Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.53246955C>A	CA2645717375	LRP8	c.63G>T (n.63G>T) c.2589G>T (n.2589G>T) c.1120G>T (n.1120G>T) c.493G>T c.2490G>T (n.2490G>T) c.1675+1G>T n.2415G>T c.457G>T (n.457G>T) c.2085G>T (n.2085G>T) c.799G>T n.2283G>T c.2174G>T (n.2174G>T) c.717G>T c.2677-974G>T (n.2677-974G>T) c.2362G>T n.2668G>T n.9419G>T c.2166G>T (n.2166G>T) c.427+1G>T c.2163G>T (n.2163G>T)	gnomAD v4
1	g.53246955C>T	CA2574374265	LRP8	c.63G>A (n.63G>A) c.2589G>A (n.2589G>A) c.1120G>A (n.1120G>A) c.493G>A c.2490G>A (n.2490G>A) c.1675+1G>A n.2415G>A c.457G>A (n.457G>A) c.2085G>A (n.2085G>A) c.799G>A n.2283G>A c.2174G>A (n.2174G>A) c.717G>A c.2677-974G>A (n.2677-974G>A) c.2362G>A n.2668G>A n.9419G>A c.2166G>A (n.2166G>A) c.427+1G>A c.2163G>A (n.2163G>A)	gnomAD v4
1	g.53246956A=	CA1167228747	LRP8	c.62T= (n.62T=) c.2588T= (n.2588T=) c.1119T= (n.1119T=) c.492T= c.2489T= (n.2489T=) c.1675T= n.2414T= c.456T= (n.456T=) c.2084T= (n.2084T=) c.798T= n.2282T= c.2173T= (n.2173T=) c.716T= c.2677-975T= (n.2677-975T=) c.2361T= n.2667T= n.9418T= c.2165T= (n.2165T=) c.427T= c.2162T= (n.2162T=)
1	g.53246956A>C	CA1167228746	LRP8	c.62T>G (n.62T>G) c.2588T>G (n.2588T>G) c.1119T>G (n.1119T>G) c.492T>G c.2489T>G (n.2489T>G) c.1675T>G n.2414T>G c.456T>G (n.456T>G) c.2084T>G (n.2084T>G) c.798T>G n.2282T>G c.2173T>G (n.2173T>G) c.716T>G c.2677-975T>G (n.2677-975T>G) c.2361T>G n.2667T>G n.9418T>G c.2165T>G (n.2165T>G) c.427T>G c.2162T>G (n.2162T>G)	dbSNP gnomAD v4
1	g.53246956A>G	CA2645717376	LRP8	c.62T>C (n.62T>C) c.2588T>C (n.2588T>C) c.1119T>C (n.1119T>C) c.492T>C c.2489T>C (n.2489T>C) c.1675T>C n.2414T>C c.456T>C (n.456T>C) c.2084T>C (n.2084T>C) c.798T>C n.2282T>C c.2173T>C (n.2173T>C) c.716T>C c.2677-975T>C (n.2677-975T>C) c.2361T>C n.2667T>C n.9418T>C c.2165T>C (n.2165T>C) c.427T>C c.2162T>C (n.2162T>C)	gnomAD v4
1	g.53246958C=	CA1167228748	LRP8	c.60G= (n.60G=) c.2586G= (n.2586G=) c.1117G= (n.1117G=) c.490G= c.2487G= (n.2487G=) c.1673G= n.2412G= c.454G= (n.454G=) c.2082G= (n.2082G=) c.796G= n.2280G= c.2171G= (n.2171G=) c.714G= c.2677-977G= (n.2677-977G=) c.2359G= n.2665G= n.9416G= c.2163G= (n.2163G=) c.1894G= (n.1894G=) c.425G= c.2160G= (n.2160G=)
1	g.53246958C>T	CA22614099	LRP8	c.60G>A (n.60G>A) c.2586G>A (n.2586G>A) c.1117G>A (n.1117G>A) c.490G>A c.2487G>A (n.2487G>A) c.1673G>A n.2412G>A c.454G>A (n.454G>A) c.2082G>A (n.2082G>A) c.796G>A n.2280G>A c.2171G>A (n.2171G>A) c.714G>A c.2677-977G>A (n.2677-977G>A) c.2359G>A n.2665G>A n.9416G>A c.2163G>A (n.2163G>A) c.1894G>A (n.1894G>A) c.425G>A c.2160G>A (n.2160G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246959A=	CA1167228749	LRP8	c.59T= (n.59T=) c.2585T= (n.2585T=) c.1116T= (n.1116T=) c.489T= c.2486T= (n.2486T=) c.1672T= n.2411T= c.453T= (n.453T=) c.2081T= (n.2081T=) c.795T= n.2279T= c.2170T= (n.2170T=) c.713T= c.2677-978T= (n.2677-978T=) c.2358T= n.2664T= n.9415T= c.2162T= (n.2162T=) c.1893T= (n.1893T=) c.424T= c.2159T= (n.2159T=)
1	g.53246959A>C	CA736877884	LRP8	c.59T>G (n.59T>G) c.2585T>G (n.2585T>G) c.1116T>G (n.1116T>G) c.489T>G c.2486T>G (n.2486T>G) c.1672T>G n.2411T>G c.453T>G (n.453T>G) c.2081T>G (n.2081T>G) c.795T>G n.2279T>G c.2170T>G (n.2170T>G) c.713T>G c.2677-978T>G (n.2677-978T>G) c.2358T>G n.2664T>G n.9415T>G c.2162T>G (n.2162T>G) c.1893T>G (n.1893T>G) c.424T>G c.2159T>G (n.2159T>G)	dbSNP gnomAD v4
1	g.53246960T>C	CA2574374268	LRP8	c.58A>G (n.58A>G) c.2584A>G (n.2584A>G) c.1115A>G (n.1115A>G) c.488A>G c.2485A>G (n.2485A>G) c.1671A>G n.2410A>G c.452A>G (n.452A>G) c.2080A>G (n.2080A>G) c.794A>G n.2278A>G c.2169A>G (n.2169A>G) c.712A>G c.2677-979A>G (n.2677-979A>G) c.2357A>G n.2663A>G n.9414A>G c.2161A>G (n.2161A>G) c.1892A>G (n.1892A>G) c.423A>G c.2158A>G (n.2158A>G)
1	g.53246961C>G	CA2645717377	LRP8	c.57G>C (n.57G>C) c.2583G>C (n.2583G>C) c.1114G>C (n.1114G>C) c.487G>C c.2484G>C (n.2484G>C) c.1670G>C n.2409G>C c.451G>C (n.451G>C) c.2079G>C (n.2079G>C) c.793G>C n.2277G>C c.2168G>C (n.2168G>C) c.711G>C c.2677-980G>C (n.2677-980G>C) c.2356G>C n.2662G>C n.9413G>C c.2160G>C (n.2160G>C) c.1891G>C (n.1891G>C) c.422G>C c.2157G>C (n.2157G>C)	gnomAD v4
1	g.53246962C>A	CA2574374269	LRP8	c.56G>T (n.56G>T) c.2582G>T (n.2582G>T) c.1113G>T (n.1113G>T) c.486G>T c.2483G>T (n.2483G>T) c.1669G>T n.2408G>T c.450G>T (n.450G>T) c.2078G>T (n.2078G>T) c.792G>T n.2276G>T c.2167G>T (n.2167G>T) c.710G>T c.2677-981G>T (n.2677-981G>T) c.2355G>T n.2661G>T n.9412G>T c.2159G>T (n.2159G>T) c.1890G>T (n.1890G>T) c.421G>T c.2156G>T (n.2156G>T)
1	g.53246962C=	CA1145703929	LRP8	c.56G= (n.56G=) c.2582G= (n.2582G=) c.1113G= (n.1113G=) c.486G= c.2483G= (n.2483G=) c.1669G= n.2408G= c.450G= (n.450G=) c.2078G= (n.2078G=) c.792G= n.2276G= c.2167G= (n.2167G=) c.710G= c.2677-981G= (n.2677-981G=) c.2355G= n.2661G= n.9412G= c.2159G= (n.2159G=) c.1890G= (n.1890G=) c.421G= c.2156G= (n.2156G=)
1	g.53246962C>T	CA22614103	LRP8	c.56G>A (n.56G>A) c.2582G>A (n.2582G>A) c.1113G>A (n.1113G>A) c.486G>A c.2483G>A (n.2483G>A) c.1669G>A n.2408G>A c.450G>A (n.450G>A) c.2078G>A (n.2078G>A) c.792G>A n.2276G>A c.2167G>A (n.2167G>A) c.710G>A c.2677-981G>A (n.2677-981G>A) c.2355G>A n.2661G>A n.9412G>A c.2159G>A (n.2159G>A) c.1890G>A (n.1890G>A) c.421G>A c.2156G>A (n.2156G>A)	dbSNP gnomAD v3 gnomAD v4
1	g.53246963A=	CA1167228750	LRP8	c.55T= (n.55T=) c.2581T= (n.2581T=) c.1112T= (n.1112T=) c.485T= c.2482T= (n.2482T=) c.1668T= n.2407T= c.449T= (n.449T=) c.2077T= (n.2077T=) c.791T= n.2275T= c.2166T= (n.2166T=) c.709T= c.2677-982T= (n.2677-982T=) c.2354T= n.2660T= n.9411T= c.2158T= (n.2158T=) c.1889T= (n.1889T=) c.420T= c.2155T= (n.2155T=)
1	g.53246963A>G	CA1167228751	LRP8	c.55T>C (n.55T>C) c.2581T>C (n.2581T>C) c.1112T>C (n.1112T>C) c.485T>C c.2482T>C (n.2482T>C) c.1668T>C n.2407T>C c.449T>C (n.449T>C) c.2077T>C (n.2077T>C) c.791T>C n.2275T>C c.2166T>C (n.2166T>C) c.709T>C c.2677-982T>C (n.2677-982T>C) c.2354T>C n.2660T>C n.9411T>C c.2158T>C (n.2158T>C) c.1889T>C (n.1889T>C) c.420T>C c.2155T>C (n.2155T>C)	dbSNP
1	g.53246964G>C	CA2645717378	LRP8	c.54C>G (n.54C>G) c.2580C>G (n.2580C>G) c.1111C>G (n.1111C>G) c.484C>G c.2481C>G (n.2481C>G) c.1667C>G n.2406C>G c.448C>G (n.448C>G) c.2076C>G (n.2076C>G) c.790C>G n.2274C>G c.2165C>G (n.2165C>G) c.708C>G c.2677-983C>G (n.2677-983C>G) c.2353C>G n.2659C>G n.9410C>G c.2157C>G (n.2157C>G) c.1888C>G (n.1888C>G) c.419C>G c.2154C>G (n.2154C>G)	gnomAD v4
1	g.53246964G>T	CA2645717379	LRP8	c.54C>A (n.54C>A) c.2580C>A (n.2580C>A) c.1111C>A (n.1111C>A) c.484C>A c.2481C>A (n.2481C>A) c.1667C>A n.2406C>A c.448C>A (n.448C>A) c.2076C>A (n.2076C>A) c.790C>A n.2274C>A c.2165C>A (n.2165C>A) c.708C>A c.2677-983C>A (n.2677-983C>A) c.2353C>A n.2659C>A n.9410C>A c.2157C>A (n.2157C>A) c.1888C>A (n.1888C>A) c.419C>A c.2154C>A (n.2154C>A)	gnomAD v4
1	g.53246966G>A	CA2574374271	LRP8	c.52C>T (n.52C>T) c.2578C>T (n.2578C>T) c.1109C>T (n.1109C>T) c.482C>T c.2479C>T (n.2479C>T) c.1665C>T n.2404C>T c.446C>T (n.446C>T) c.2074C>T (n.2074C>T) c.788C>T n.2272C>T c.2163C>T (n.2163C>T) c.706C>T c.2677-985C>T (n.2677-985C>T) c.2351C>T n.2657C>T n.9408C>T c.2155C>T (n.2155C>T) c.1886C>T (n.1886C>T) c.417C>T c.2152C>T (n.2152C>T)	gnomAD v4
1	g.53246966G>T	CA2645717380	LRP8	c.52C>A (n.52C>A) c.2578C>A (n.2578C>A) c.1109C>A (n.1109C>A) c.482C>A c.2479C>A (n.2479C>A) c.1665C>A n.2404C>A c.446C>A (n.446C>A) c.2074C>A (n.2074C>A) c.788C>A n.2272C>A c.2163C>A (n.2163C>A) c.706C>A c.2677-985C>A (n.2677-985C>A) c.2351C>A n.2657C>A n.9408C>A c.2155C>A (n.2155C>A) c.1886C>A (n.1886C>A) c.417C>A c.2152C>A (n.2152C>A)	gnomAD v4
1	g.53246968G>A	CA2645717381	LRP8	c.50C>T (n.50C>T) c.2576C>T (n.2576C>T) c.1107C>T (n.1107C>T) c.480C>T c.2477C>T (n.2477C>T) c.1663C>T n.2402C>T c.444C>T (n.444C>T) c.2072C>T (n.2072C>T) c.786C>T n.2270C>T c.2161C>T (n.2161C>T) c.704C>T c.2677-987C>T (n.2677-987C>T) c.2349C>T n.2655C>T n.9406C>T c.2153C>T (n.2153C>T) c.1884C>T (n.1884C>T) c.415C>T c.2150C>T (n.2150C>T)	gnomAD v4
1	g.53246968G>T	CA2645717382	LRP8	c.50C>A (n.50C>A) c.2576C>A (n.2576C>A) c.1107C>A (n.1107C>A) c.480C>A c.2477C>A (n.2477C>A) c.1663C>A n.2402C>A c.444C>A (n.444C>A) c.2072C>A (n.2072C>A) c.786C>A n.2270C>A c.2161C>A (n.2161C>A) c.704C>A c.2677-987C>A (n.2677-987C>A) c.2349C>A n.2655C>A n.9406C>A c.2153C>A (n.2153C>A) c.1884C>A (n.1884C>A) c.415C>A c.2150C>A (n.2150C>A)	gnomAD v4
1	g.53246969T>C	CA859810	LRP8	c.49A>G (n.49A>G) c.2575A>G (n.2575A>G) c.1106A>G (n.1106A>G) c.479A>G c.2476A>G (n.2476A>G) c.1662A>G n.2401A>G c.443A>G (n.443A>G) c.2071A>G (n.2071A>G) c.785A>G n.2269A>G c.2160A>G (n.2160A>G) c.703A>G c.2677-988A>G (n.2677-988A>G) c.2348A>G n.2654A>G n.9405A>G c.2152A>G (n.2152A>G) c.1883A>G (n.1883A>G) c.414A>G c.2149A>G (n.2149A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53246969T=	CA1167228752	LRP8	c.49A= (n.49A=) c.2575A= (n.2575A=) c.1106A= (n.1106A=) c.479A= c.2476A= (n.2476A=) c.1662A= n.2401A= c.443A= (n.443A=) c.2071A= (n.2071A=) c.785A= n.2269A= c.2160A= (n.2160A=) c.703A= c.2677-988A= (n.2677-988A=) c.2348A= n.2654A= n.9405A= c.2152A= (n.2152A=) c.1883A= (n.1883A=) c.414A= c.2149A= (n.2149A=)
1	g.53246970A=	CA1147098037	LRP8	c.48T= (n.48T=) c.2574T= (n.2574T=) c.1105T= (n.1105T=) c.478T= c.2475T= (n.2475T=) c.1661T= n.2400T= c.442T= (n.442T=) c.2070T= (n.2070T=) c.784T= n.2268T= c.2159T= (n.2159T=) c.702T= c.2677-989T= (n.2677-989T=) c.2347T= n.2653T= n.9404T= c.2151T= (n.2151T=) c.1882T= (n.1882T=) c.413T= c.2148T= (n.2148T=)
1	g.53246970A>G	CA859811	LRP8	c.48T>C (n.48T>C) c.2574T>C (n.2574T>C) c.1105T>C (n.1105T>C) c.478T>C c.2475T>C (n.2475T>C) c.1661T>C n.2400T>C c.442T>C (n.442T>C) c.2070T>C (n.2070T>C) c.784T>C n.2268T>C c.2159T>C (n.2159T>C) c.702T>C c.2677-989T>C (n.2677-989T>C) c.2347T>C n.2653T>C n.9404T>C c.2151T>C (n.2151T>C) c.1882T>C (n.1882T>C) c.413T>C c.2148T>C (n.2148T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246970A>T	CA2645717383	LRP8	c.48T>A (n.48T>A) c.2574T>A (n.2574T>A) c.1105T>A (n.1105T>A) c.478T>A c.2475T>A (n.2475T>A) c.1661T>A n.2400T>A c.442T>A (n.442T>A) c.2070T>A (n.2070T>A) c.784T>A n.2268T>A c.2159T>A (n.2159T>A) c.702T>A c.2677-989T>A (n.2677-989T>A) c.2347T>A n.2653T>A n.9404T>A c.2151T>A (n.2151T>A) c.1882T>A (n.1882T>A) c.413T>A c.2148T>A (n.2148T>A)	gnomAD v4
1	g.53246971G>C	CA1167228754	LRP8	c.47C>G (n.47C>G) c.2573C>G (n.2573C>G) c.1104C>G (n.1104C>G) c.477C>G c.2474C>G (n.2474C>G) c.1660C>G n.2399C>G c.441C>G (n.441C>G) c.2069C>G (n.2069C>G) c.783C>G n.2267C>G c.2158C>G (n.2158C>G) c.701C>G c.2677-990C>G (n.2677-990C>G) c.2346C>G n.2652C>G n.9403C>G c.2150C>G (n.2150C>G) c.1881C>G (n.1881C>G) c.412C>G c.2147C>G (n.2147C>G)	dbSNP gnomAD v4
1	g.53246971G=	CA1167228753	LRP8	c.47C= (n.47C=) c.2573C= (n.2573C=) c.1104C= (n.1104C=) c.477C= c.2474C= (n.2474C=) c.1660C= n.2399C= c.441C= (n.441C=) c.2069C= (n.2069C=) c.783C= n.2267C= c.2158C= (n.2158C=) c.701C= c.2677-990C= (n.2677-990C=) c.2346C= n.2652C= n.9403C= c.2150C= (n.2150C=) c.1881C= (n.1881C=) c.412C= c.2147C= (n.2147C=)
1	g.53246971G>T	CA2645717384	LRP8	c.47C>A (n.47C>A) c.2573C>A (n.2573C>A) c.1104C>A (n.1104C>A) c.477C>A c.2474C>A (n.2474C>A) c.1660C>A n.2399C>A c.441C>A (n.441C>A) c.2069C>A (n.2069C>A) c.783C>A n.2267C>A c.2158C>A (n.2158C>A) c.701C>A c.2677-990C>A (n.2677-990C>A) c.2346C>A n.2652C>A n.9403C>A c.2150C>A (n.2150C>A) c.1881C>A (n.1881C>A) c.412C>A c.2147C>A (n.2147C>A)	gnomAD v4
1	g.53246972T>A	CA2743636482	LRP8	c.46A>T (n.46A>T) c.2572A>T (n.2572A>T) c.1103A>T (n.1103A>T) c.476A>T c.2473A>T (n.2473A>T) c.1659A>T n.2398A>T c.440A>T (n.440A>T) c.2068A>T (n.2068A>T) c.782A>T n.2266A>T c.2157A>T (n.2157A>T) c.700A>T c.2677-991A>T (n.2677-991A>T) c.2345A>T n.2651A>T n.9402A>T c.2149A>T (n.2149A>T) c.1880A>T (n.1880A>T) c.411A>T c.2146A>T (n.2146A>T)
1	g.53246972T>C	CA859812	LRP8	c.46A>G (n.46A>G) c.2572A>G (n.2572A>G) c.1103A>G (n.1103A>G) c.476A>G c.2473A>G (n.2473A>G) c.1659A>G n.2398A>G c.440A>G (n.440A>G) c.2068A>G (n.2068A>G) c.782A>G n.2266A>G c.2157A>G (n.2157A>G) c.700A>G c.2677-991A>G (n.2677-991A>G) c.2345A>G n.2651A>G n.9402A>G c.2149A>G (n.2149A>G) c.1880A>G (n.1880A>G) c.411A>G c.2146A>G (n.2146A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246972T=	CA1148871766	LRP8	c.46A= (n.46A=) c.2572A= (n.2572A=) c.1103A= (n.1103A=) c.476A= c.2473A= (n.2473A=) c.1659A= n.2398A= c.440A= (n.440A=) c.2068A= (n.2068A=) c.782A= n.2266A= c.2157A= (n.2157A=) c.700A= c.2677-991A= (n.2677-991A=) c.2345A= n.2651A= n.9402A= c.2149A= (n.2149A=) c.1880A= (n.1880A=) c.411A= c.2146A= (n.2146A=)
1	g.53246973G>A	CA522912592	LRP8	c.45C>T (n.45C>T) c.2571C>T (n.2571C>T) c.1102C>T (n.1102C>T) c.475C>T c.2472C>T (n.2472C>T) c.1658C>T n.2397C>T c.439C>T (n.439C>T) c.2067C>T (n.2067C>T) c.781C>T n.2265C>T c.2156C>T (n.2156C>T) c.699C>T c.2677-992C>T (n.2677-992C>T) c.2344C>T n.2650C>T n.9401C>T c.2148C>T (n.2148C>T) c.1879C>T (n.1879C>T) c.410C>T c.2145C>T (n.2145C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246973G=	CA1167228755	LRP8	c.45C= (n.45C=) c.2571C= (n.2571C=) c.1102C= (n.1102C=) c.475C= c.2472C= (n.2472C=) c.1658C= n.2397C= c.439C= (n.439C=) c.2067C= (n.2067C=) c.781C= n.2265C= c.2156C= (n.2156C=) c.699C= c.2677-992C= (n.2677-992C=) c.2344C= n.2650C= n.9401C= c.2148C= (n.2148C=) c.1879C= (n.1879C=) c.410C= c.2145C= (n.2145C=)
1	g.53246973G>T	CA2574374272	LRP8	c.45C>A (n.45C>A) c.2571C>A (n.2571C>A) c.1102C>A (n.1102C>A) c.475C>A c.2472C>A (n.2472C>A) c.1658C>A n.2397C>A c.439C>A (n.439C>A) c.2067C>A (n.2067C>A) c.781C>A n.2265C>A c.2156C>A (n.2156C>A) c.699C>A c.2677-992C>A (n.2677-992C>A) c.2344C>A n.2650C>A n.9401C>A c.2148C>A (n.2148C>A) c.1879C>A (n.1879C>A) c.410C>A c.2145C>A (n.2145C>A)	gnomAD v4
1	g.53246974C>A	CA1167228756	LRP8	c.44G>T (n.44G>T) c.2570G>T (n.2570G>T) c.1101G>T (n.1101G>T) c.474G>T c.2471G>T (n.2471G>T) c.1657G>T n.2396G>T c.438G>T (n.438G>T) c.2066G>T (n.2066G>T) c.780G>T n.2264G>T c.2155G>T (n.2155G>T) c.698G>T c.2677-993G>T (n.2677-993G>T) c.2343G>T n.2649G>T n.9400G>T c.2147G>T (n.2147G>T) c.1878G>T (n.1878G>T) c.409G>T c.2144G>T (n.2144G>T)	dbSNP gnomAD v4
1	g.53246974C=	CA1167228757	LRP8	c.44G= (n.44G=) c.2570G= (n.2570G=) c.1101G= (n.1101G=) c.474G= c.2471G= (n.2471G=) c.1657G= n.2396G= c.438G= (n.438G=) c.2066G= (n.2066G=) c.780G= n.2264G= c.2155G= (n.2155G=) c.698G= c.2677-993G= (n.2677-993G=) c.2343G= n.2649G= n.9400G= c.2147G= (n.2147G=) c.1878G= (n.1878G=) c.409G= c.2144G= (n.2144G=)
1	g.53246974C>T	CA2645717385	LRP8	c.44G>A (n.44G>A) c.2570G>A (n.2570G>A) c.1101G>A (n.1101G>A) c.474G>A c.2471G>A (n.2471G>A) c.1657G>A n.2396G>A c.438G>A (n.438G>A) c.2066G>A (n.2066G>A) c.780G>A n.2264G>A c.2155G>A (n.2155G>A) c.698G>A c.2677-993G>A (n.2677-993G>A) c.2343G>A n.2649G>A n.9400G>A c.2147G>A (n.2147G>A) c.1878G>A (n.1878G>A) c.409G>A c.2144G>A (n.2144G>A)	gnomAD v4
1	g.53246978_53246992del	CA2598073571	LRP8	c.30_44del (n.30_44del) c.2556_2570del (n.2556_2570del) c.1087_1101del (n.1087_1101del) c.460_474del c.2457_2471del (n.2457_2471del) c.1643_1657del n.2382_2396del c.424_438del (n.424_438del) c.2052_2066del (n.2052_2066del) c.766_780del n.2250_2264del c.2141_2155del (n.2141_2155del) c.684_698del c.2677-1007_2677-993del (n.2677-1007_2677-993del) c.2329_2343del n.2635_2649del n.9386_9400del c.2133_2147del (n.2133_2147del) c.1864_1878del (n.1864_1878del) c.395_409del c.2130_2144del (n.2130_2144del)	gnomAD v3 gnomAD v4
1	g.53246975A=	CA1167228758	LRP8	c.43T= (n.43T=) c.2569T= (n.2569T=) c.1100T= (n.1100T=) c.473T= c.2470T= (n.2470T=) c.1656T= n.2395T= c.437T= (n.437T=) c.2065T= (n.2065T=) c.779T= n.2263T= c.2154T= (n.2154T=) c.697T= c.2677-994T= (n.2677-994T=) c.2342T= n.2648T= n.9399T= c.2146T= (n.2146T=) c.1877T= (n.1877T=) c.408T= c.2143T= (n.2143T=)
1	g.53246975A>G	CA736877897	LRP8	c.43T>C (n.43T>C) c.2569T>C (n.2569T>C) c.1100T>C (n.1100T>C) c.473T>C c.2470T>C (n.2470T>C) c.1656T>C n.2395T>C c.437T>C (n.437T>C) c.2065T>C (n.2065T>C) c.779T>C n.2263T>C c.2154T>C (n.2154T>C) c.697T>C c.2677-994T>C (n.2677-994T>C) c.2342T>C n.2648T>C n.9399T>C c.2146T>C (n.2146T>C) c.1877T>C (n.1877T>C) c.408T>C c.2143T>C (n.2143T>C)	dbSNP gnomAD v3 gnomAD v4
1	g.53246977G>C	CA2645717386	LRP8	c.41C>G (n.41C>G) c.2567C>G (n.2567C>G) c.1098C>G (n.1098C>G) c.471C>G c.2468C>G (n.2468C>G) c.1654C>G n.2393C>G c.435C>G (n.435C>G) c.2063C>G (n.2063C>G) c.777C>G n.2261C>G c.2152C>G (n.2152C>G) c.695C>G c.2677-996C>G (n.2677-996C>G) c.2340C>G n.2646C>G n.9397C>G c.2144C>G (n.2144C>G) c.1875C>G (n.1875C>G) c.406C>G c.2141C>G (n.2141C>G)	gnomAD v4
1	g.53246977G>T	CA2645717387	LRP8	c.41C>A (n.41C>A) c.2567C>A (n.2567C>A) c.1098C>A (n.1098C>A) c.471C>A c.2468C>A (n.2468C>A) c.1654C>A n.2393C>A c.435C>A (n.435C>A) c.2063C>A (n.2063C>A) c.777C>A n.2261C>A c.2152C>A (n.2152C>A) c.695C>A c.2677-996C>A (n.2677-996C>A) c.2340C>A n.2646C>A n.9397C>A c.2144C>A (n.2144C>A) c.1875C>A (n.1875C>A) c.406C>A c.2141C>A (n.2141C>A)	gnomAD v4
1	g.53246979del	CA2574374273	LRP8	c.41del (n.41del) c.2567del (n.2567del) c.1098del (n.1098del) c.471del c.2468del (n.2468del) c.1654del n.2393del c.435del (n.435del) c.2063del (n.2063del) c.777del n.2261del c.2152del (n.2152del) c.695del c.2677-996del (n.2677-996del) c.2340del n.2646del n.9397del c.2144del (n.2144del) c.1875del (n.1875del) c.406del c.2141del (n.2141del)
1	g.53246978G>C	CA2645717388	LRP8	c.40C>G (n.40C>G) c.2566C>G (n.2566C>G) c.1097C>G (n.1097C>G) c.470C>G c.2467C>G (n.2467C>G) c.1653C>G n.2392C>G c.434C>G (n.434C>G) c.2062C>G (n.2062C>G) c.776C>G n.2260C>G c.2151C>G (n.2151C>G) c.694C>G c.2677-997C>G (n.2677-997C>G) c.2339C>G n.2645C>G n.9396C>G c.2143C>G (n.2143C>G) c.1874C>G (n.1874C>G) c.405C>G c.2140C>G (n.2140C>G)	gnomAD v4
1	g.53246978G>T	CA2645717389	LRP8	c.40C>A (n.40C>A) c.2566C>A (n.2566C>A) c.1097C>A (n.1097C>A) c.470C>A c.2467C>A (n.2467C>A) c.1653C>A n.2392C>A c.434C>A (n.434C>A) c.2062C>A (n.2062C>A) c.776C>A n.2260C>A c.2151C>A (n.2151C>A) c.694C>A c.2677-997C>A (n.2677-997C>A) c.2339C>A n.2645C>A n.9396C>A c.2143C>A (n.2143C>A) c.1874C>A (n.1874C>A) c.405C>A c.2140C>A (n.2140C>A)	gnomAD v4
1	g.53246979G>A	CA2645717390	LRP8	c.39C>T (n.39C>T) c.2565C>T (n.2565C>T) c.1096C>T (n.1096C>T) c.469C>T c.2466C>T (n.2466C>T) c.1652C>T n.2391C>T c.433C>T (n.433C>T) c.2061C>T (n.2061C>T) c.775C>T n.2259C>T c.2150C>T (n.2150C>T) c.693C>T c.2677-998C>T (n.2677-998C>T) c.2338C>T n.2644C>T n.9395C>T c.2142C>T (n.2142C>T) c.1873C>T (n.1873C>T) c.404C>T c.2139C>T (n.2139C>T)	gnomAD v4
1	g.53246979G>T	CA2645717391	LRP8	c.39C>A (n.39C>A) c.2565C>A (n.2565C>A) c.1096C>A (n.1096C>A) c.469C>A c.2466C>A (n.2466C>A) c.1652C>A n.2391C>A c.433C>A (n.433C>A) c.2061C>A (n.2061C>A) c.775C>A n.2259C>A c.2150C>A (n.2150C>A) c.693C>A c.2677-998C>A (n.2677-998C>A) c.2338C>A n.2644C>A n.9395C>A c.2142C>A (n.2142C>A) c.1873C>A (n.1873C>A) c.404C>A c.2139C>A (n.2139C>A)	gnomAD v4
1	g.53246980A=	CA1167228759	LRP8	c.38T= (n.38T=) c.2564T= (n.2564T=) c.1095T= (n.1095T=) c.468T= c.2465T= (n.2465T=) c.1651T= n.2390T= c.432T= (n.432T=) c.2060T= (n.2060T=) c.774T= n.2258T= c.2149T= (n.2149T=) c.692T= c.2677-999T= (n.2677-999T=) c.2337T= n.2643T= n.9394T= c.2141T= (n.2141T=) c.1872T= (n.1872T=) c.403T= c.2138T= (n.2138T=)
1	g.53246980A>G	CA859813	LRP8	c.38T>C (n.38T>C) c.2564T>C (n.2564T>C) c.1095T>C (n.1095T>C) c.468T>C c.2465T>C (n.2465T>C) c.1651T>C n.2390T>C c.432T>C (n.432T>C) c.2060T>C (n.2060T>C) c.774T>C n.2258T>C c.2149T>C (n.2149T>C) c.692T>C c.2677-999T>C (n.2677-999T>C) c.2337T>C n.2643T>C n.9394T>C c.2141T>C (n.2141T>C) c.1872T>C (n.1872T>C) c.403T>C c.2138T>C (n.2138T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53246981C=	CA1167228760	LRP8	c.37G= (n.37G=) c.2563G= (n.2563G=) c.1094G= (n.1094G=) c.467G= c.2464G= (n.2464G=) c.1650G= n.2389G= c.431G= (n.431G=) c.2059G= (n.2059G=) c.773G= n.2257G= c.2148G= (n.2148G=) c.691G= c.2677-1000G= (n.2677-1000G=) c.2336G= n.2642G= n.9393G= c.2140G= (n.2140G=) c.1871G= (n.1871G=) c.402G= c.2137G= (n.2137G=)
1	g.53246981C>G	CA522912596	LRP8	c.37G>C (n.37G>C) c.2563G>C (n.2563G>C) c.1094G>C (n.1094G>C) c.467G>C c.2464G>C (n.2464G>C) c.1650G>C n.2389G>C c.431G>C (n.431G>C) c.2059G>C (n.2059G>C) c.773G>C n.2257G>C c.2148G>C (n.2148G>C) c.691G>C c.2677-1000G>C (n.2677-1000G>C) c.2336G>C n.2642G>C n.9393G>C c.2140G>C (n.2140G>C) c.1871G>C (n.1871G>C) c.402G>C c.2137G>C (n.2137G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246982T>G	CA2743636483	LRP8	c.36A>C (n.36A>C) c.2562A>C (n.2562A>C) c.1093A>C (n.1093A>C) c.466A>C c.2463A>C (n.2463A>C) c.1649A>C n.2388A>C c.430A>C (n.430A>C) c.2058A>C (n.2058A>C) c.772A>C n.2256A>C c.2147A>C (n.2147A>C) c.690A>C c.2677-1001A>C (n.2677-1001A>C) c.2335A>C n.2641A>C n.9392A>C c.2139A>C (n.2139A>C) c.1870A>C (n.1870A>C) c.401A>C c.2136A>C (n.2136A>C)
1	g.53246983G>T	CA2645717392	LRP8	c.35C>A (n.35C>A) c.2561C>A (n.2561C>A) c.1092C>A (n.1092C>A) c.465C>A c.2462C>A (n.2462C>A) c.1648C>A n.2387C>A c.429C>A (n.429C>A) c.2057C>A (n.2057C>A) c.771C>A n.2255C>A c.2146C>A (n.2146C>A) c.689C>A c.2677-1002C>A (n.2677-1002C>A) c.2334C>A n.2640C>A n.9391C>A c.2138C>A (n.2138C>A) c.1869C>A (n.1869C>A) c.400C>A c.2135C>A (n.2135C>A)	gnomAD v4
1	g.53246984A=	CA1144150472	LRP8	c.34T= (n.34T=) c.2560T= (n.2560T=) c.1091T= (n.1091T=) c.464T= c.2461T= (n.2461T=) c.1647T= n.2386T= c.428T= (n.428T=) c.2056T= (n.2056T=) c.770T= n.2254T= c.2145T= (n.2145T=) c.688T= c.2677-1003T= (n.2677-1003T=) c.2333T= n.2639T= n.9390T= c.2137T= (n.2137T=) c.1868T= (n.1868T=) c.399T= c.2134T= (n.2134T=)
1	g.53246984A>C	CA859814	LRP8	c.34T>G (n.34T>G) c.2560T>G (n.2560T>G) c.1091T>G (n.1091T>G) c.464T>G c.2461T>G (n.2461T>G) c.1647T>G n.2386T>G c.428T>G (n.428T>G) c.2056T>G (n.2056T>G) c.770T>G n.2254T>G c.2145T>G (n.2145T>G) c.688T>G c.2677-1003T>G (n.2677-1003T>G) c.2333T>G n.2639T>G n.9390T>G c.2137T>G (n.2137T>G) c.1868T>G (n.1868T>G) c.399T>G c.2134T>G (n.2134T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246986T>G	CA1001798616	LRP8	c.32A>C (n.32A>C) c.2558A>C (n.2558A>C) c.1089A>C (n.1089A>C) c.462A>C c.2459A>C (n.2459A>C) c.1645A>C n.2384A>C c.426A>C (n.426A>C) c.2054A>C (n.2054A>C) c.768A>C n.2252A>C c.2143A>C (n.2143A>C) c.686A>C c.2677-1005A>C (n.2677-1005A>C) c.2331A>C n.2637A>C n.9388A>C c.2135A>C (n.2135A>C) c.1866A>C (n.1866A>C) c.397A>C c.2132A>C (n.2132A>C)	dbSNP gnomAD v3 gnomAD v4
1	g.53246986T=	CA1167228761	LRP8	c.32A= (n.32A=) c.2558A= (n.2558A=) c.1089A= (n.1089A=) c.462A= c.2459A= (n.2459A=) c.1645A= n.2384A= c.426A= (n.426A=) c.2054A= (n.2054A=) c.768A= n.2252A= c.2143A= (n.2143A=) c.686A= c.2677-1005A= (n.2677-1005A=) c.2331A= n.2637A= n.9388A= c.2135A= (n.2135A=) c.1866A= (n.1866A=) c.397A= c.2132A= (n.2132A=)
1	g.53246987T>C	CA2645717393	LRP8	c.31A>G (n.31A>G) c.2557A>G (n.2557A>G) c.1088A>G (n.1088A>G) c.461A>G c.2458A>G (n.2458A>G) c.1644A>G n.2383A>G c.425A>G (n.425A>G) c.2053A>G (n.2053A>G) c.767A>G n.2251A>G c.2142A>G (n.2142A>G) c.685A>G c.2677-1006A>G (n.2677-1006A>G) c.2330A>G n.2636A>G n.9387A>G c.2134A>G (n.2134A>G) c.1865A>G (n.1865A>G) c.396A>G c.2131A>G (n.2131A>G)	gnomAD v4
1	g.53246989C>T	CA2574374274	LRP8	c.29G>A (n.29G>A) c.2555G>A (n.2555G>A) c.1086G>A (n.1086G>A) c.459G>A c.2456G>A (n.2456G>A) c.1642G>A n.2381G>A c.423G>A (n.423G>A) c.2051G>A (n.2051G>A) c.765G>A n.2249G>A c.2140G>A (n.2140G>A) c.683G>A c.2677-1008G>A (n.2677-1008G>A) c.2328G>A n.2634G>A n.9385G>A c.2132G>A (n.2132G>A) c.1863G>A (n.1863G>A) c.394G>A c.2129G>A (n.2129G>A)
1	g.53246990A=	CA1167228763	LRP8	c.28T= (n.28T=) c.2554T= (n.2554T=) c.1085T= (n.1085T=) c.458T= c.2455T= (n.2455T=) c.1641T= n.2380T= c.422T= (n.422T=) c.2050T= (n.2050T=) c.764T= n.2248T= c.2139T= (n.2139T=) c.682T= c.2677-1009T= (n.2677-1009T=) c.2327T= n.2633T= n.9384T= c.2131T= (n.2131T=) c.1862T= (n.1862T=) c.393T= c.2128T= (n.2128T=)
1	g.53246990A>G	CA2645717394	LRP8	c.28T>C (n.28T>C) c.2554T>C (n.2554T>C) c.1085T>C (n.1085T>C) c.458T>C c.2455T>C (n.2455T>C) c.1641T>C n.2380T>C c.422T>C (n.422T>C) c.2050T>C (n.2050T>C) c.764T>C n.2248T>C c.2139T>C (n.2139T>C) c.682T>C c.2677-1009T>C (n.2677-1009T>C) c.2327T>C n.2633T>C n.9384T>C c.2131T>C (n.2131T>C) c.1862T>C (n.1862T>C) c.393T>C c.2128T>C (n.2128T>C)	gnomAD v4
1	g.53246990A>T	CA1167228762	LRP8	c.28T>A (n.28T>A) c.2554T>A (n.2554T>A) c.1085T>A (n.1085T>A) c.458T>A c.2455T>A (n.2455T>A) c.1641T>A n.2380T>A c.422T>A (n.422T>A) c.2050T>A (n.2050T>A) c.764T>A n.2248T>A c.2139T>A (n.2139T>A) c.682T>A c.2677-1009T>A (n.2677-1009T>A) c.2327T>A n.2633T>A n.9384T>A c.2131T>A (n.2131T>A) c.1862T>A (n.1862T>A) c.393T>A c.2128T>A (n.2128T>A)	dbSNP gnomAD v4
1	g.53246991T>A	CA736877917	LRP8	c.27A>T (n.27A>T) c.2553A>T (n.2553A>T) c.1084A>T (n.1084A>T) c.457A>T c.2454A>T (n.2454A>T) c.1640A>T n.2379A>T c.421A>T (n.421A>T) c.2049A>T (n.2049A>T) c.763A>T n.2247A>T c.2138A>T (n.2138A>T) c.681A>T c.2677-1010A>T (n.2677-1010A>T) c.2326A>T n.2632A>T n.9383A>T c.2130A>T (n.2130A>T) c.1861A>T (n.1861A>T) c.392A>T c.2127A>T (n.2127A>T)	dbSNP
1	g.53246991T>C	CA1001798617	LRP8	c.27A>G (n.27A>G) c.2553A>G (n.2553A>G) c.1084A>G (n.1084A>G) c.457A>G c.2454A>G (n.2454A>G) c.1640A>G n.2379A>G c.421A>G (n.421A>G) c.2049A>G (n.2049A>G) c.763A>G n.2247A>G c.2138A>G (n.2138A>G) c.681A>G c.2677-1010A>G (n.2677-1010A>G) c.2326A>G n.2632A>G n.9383A>G c.2130A>G (n.2130A>G) c.1861A>G (n.1861A>G) c.392A>G c.2127A>G (n.2127A>G)	dbSNP gnomAD v3 gnomAD v4
1	g.53246991T=	CA1167228764	LRP8	c.27A= (n.27A=) c.2553A= (n.2553A=) c.1084A= (n.1084A=) c.457A= c.2454A= (n.2454A=) c.1640A= n.2379A= c.421A= (n.421A=) c.2049A= (n.2049A=) c.763A= n.2247A= c.2138A= (n.2138A=) c.681A= c.2677-1010A= (n.2677-1010A=) c.2326A= n.2632A= n.9383A= c.2130A= (n.2130A=) c.1861A= (n.1861A=) c.392A= c.2127A= (n.2127A=)
1	g.53246993A=	CA1167228765	LRP8	c.25T= (n.25T=) c.2551T= (n.2551T=) c.1082T= (n.1082T=) c.455T= c.2452T= (n.2452T=) c.1638T= n.2377T= c.419T= (n.419T=) c.2047T= (n.2047T=) c.761T= n.2245T= c.2136T= (n.2136T=) c.679T= c.2677-1012T= (n.2677-1012T=) c.2324T= n.2630T= n.9381T= c.2128T= (n.2128T=) c.1859T= (n.1859T=) c.390T= c.2125T= (n.2125T=)
1	g.53246993A>G	CA2645717395	LRP8	c.25T>C (n.25T>C) c.2551T>C (n.2551T>C) c.1082T>C (n.1082T>C) c.455T>C c.2452T>C (n.2452T>C) c.1638T>C n.2377T>C c.419T>C (n.419T>C) c.2047T>C (n.2047T>C) c.761T>C n.2245T>C c.2136T>C (n.2136T>C) c.679T>C c.2677-1012T>C (n.2677-1012T>C) c.2324T>C n.2630T>C n.9381T>C c.2128T>C (n.2128T>C) c.1859T>C (n.1859T>C) c.390T>C c.2125T>C (n.2125T>C)	gnomAD v4
1	g.53246993A>T	CA522912599	LRP8	c.25T>A (n.25T>A) c.2551T>A (n.2551T>A) c.1082T>A (n.1082T>A) c.455T>A c.2452T>A (n.2452T>A) c.1638T>A n.2377T>A c.419T>A (n.419T>A) c.2047T>A (n.2047T>A) c.761T>A n.2245T>A c.2136T>A (n.2136T>A) c.679T>A c.2677-1012T>A (n.2677-1012T>A) c.2324T>A n.2630T>A n.9381T>A c.2128T>A (n.2128T>A) c.1859T>A (n.1859T>A) c.390T>A c.2125T>A (n.2125T>A)	dbSNP gnomAD v2 gnomAD v4
1	g.53246994G>A	CA736877930	LRP8	c.24C>T (n.24C>T) c.2550C>T (n.2550C>T) c.1081C>T (n.1081C>T) c.454C>T c.2451C>T (n.2451C>T) c.1637C>T n.2376C>T c.418C>T (n.418C>T) c.2046C>T (n.2046C>T) c.760C>T n.2244C>T c.2135C>T (n.2135C>T) c.678C>T c.2677-1013C>T (n.2677-1013C>T) c.2323C>T n.2629C>T n.9380C>T c.2127C>T (n.2127C>T) c.1858C>T (n.1858C>T) c.389C>T c.2124C>T (n.2124C>T)	dbSNP gnomAD v3 gnomAD v4
1	g.53246994G>C	CA859815	LRP8	c.24C>G (n.24C>G) c.2550C>G (n.2550C>G) c.1081C>G (n.1081C>G) c.454C>G c.2451C>G (n.2451C>G) c.1637C>G n.2376C>G c.418C>G (n.418C>G) c.2046C>G (n.2046C>G) c.760C>G n.2244C>G c.2135C>G (n.2135C>G) c.678C>G c.2677-1013C>G (n.2677-1013C>G) c.2323C>G n.2629C>G n.9380C>G c.2127C>G (n.2127C>G) c.1858C>G (n.1858C>G) c.389C>G c.2124C>G (n.2124C>G)	dbSNP ExAC gnomAD v2
1	g.53246994G=	CA1148471634	LRP8	c.24C= (n.24C=) c.2550C= (n.2550C=) c.1081C= (n.1081C=) c.454C= c.2451C= (n.2451C=) c.1637C= n.2376C= c.418C= (n.418C=) c.2046C= (n.2046C=) c.760C= n.2244C= c.2135C= (n.2135C=) c.678C= c.2677-1013C= (n.2677-1013C=) c.2323C= n.2629C= n.9380C= c.2127C= (n.2127C=) c.1858C= (n.1858C=) c.389C= c.2124C= (n.2124C=)
1	g.53246995G>A	CA522912602	LRP8	c.23C>T (n.23C>T) c.2549C>T (n.2549C>T) c.1080C>T (n.1080C>T) c.453C>T c.2450C>T (n.2450C>T) c.1636C>T n.2375C>T c.417C>T (n.417C>T) c.2045C>T (n.2045C>T) c.759C>T n.2243C>T c.2134C>T (n.2134C>T) c.677C>T c.2677-1014C>T (n.2677-1014C>T) c.2322C>T n.2628C>T n.9379C>T c.2126C>T (n.2126C>T) c.1857C>T (n.1857C>T) c.388C>T c.2123C>T (n.2123C>T)	dbSNP gnomAD v2
1	g.53246995G=	CA1167228766	LRP8	c.23C= (n.23C=) c.2549C= (n.2549C=) c.1080C= (n.1080C=) c.453C= c.2450C= (n.2450C=) c.1636C= n.2375C= c.417C= (n.417C=) c.2045C= (n.2045C=) c.759C= n.2243C= c.2134C= (n.2134C=) c.677C= c.2677-1014C= (n.2677-1014C=) c.2322C= n.2628C= n.9379C= c.2126C= (n.2126C=) c.1857C= (n.1857C=) c.388C= c.2123C= (n.2123C=)
1	g.53246996C>T	CA2645717396	LRP8	c.22G>A (n.22G>A) c.2548G>A (n.2548G>A) c.1079G>A (n.1079G>A) c.452G>A c.2449G>A (n.2449G>A) c.1635G>A n.2374G>A c.416G>A (n.416G>A) c.2044G>A (n.2044G>A) c.758G>A n.2242G>A c.2133G>A (n.2133G>A) c.676G>A c.2677-1015G>A (n.2677-1015G>A) c.2321G>A n.2627G>A n.9378G>A c.2125G>A (n.2125G>A) c.1856G>A (n.1856G>A) c.387G>A c.2122G>A (n.2122G>A)	gnomAD v4
1	g.53246998C=	CA1144212696	LRP8	c.20G= (n.20G=) c.2546G= (n.2546G=) c.1077G= (n.1077G=) c.450G= c.2447G= (n.2447G=) c.1633G= n.2372G= c.414G= (n.414G=) c.2042G= (n.2042G=) c.756G= n.2240G= c.2131G= (n.2131G=) c.674G= c.2677-1017G= (n.2677-1017G=) c.2319G= n.2625G= n.9376G= c.2123G= (n.2123G=) c.1854G= (n.1854G=) c.385G= c.2120G= (n.2120G=)
1	g.53246998C>T	CA859816	LRP8	c.20G>A (n.20G>A) c.2546G>A (n.2546G>A) c.1077G>A (n.1077G>A) c.450G>A c.2447G>A (n.2447G>A) c.1633G>A n.2372G>A c.414G>A (n.414G>A) c.2042G>A (n.2042G>A) c.756G>A n.2240G>A c.2131G>A (n.2131G>A) c.674G>A c.2677-1017G>A (n.2677-1017G>A) c.2319G>A n.2625G>A n.9376G>A c.2123G>A (n.2123G>A) c.1854G>A (n.1854G>A) c.385G>A c.2120G>A (n.2120G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53246999G>A	CA859817	LRP8	c.19C>T (n.19C>T) c.2545C>T (n.2545C>T) c.1076C>T (n.1076C>T) c.449C>T c.2446C>T (n.2446C>T) c.1632C>T n.2371C>T c.413C>T (n.413C>T) c.2041C>T (n.2041C>T) c.755C>T n.2239C>T c.2130C>T (n.2130C>T) c.673C>T c.2677-1018C>T (n.2677-1018C>T) c.2318C>T n.2624C>T n.9375C>T c.2122C>T (n.2122C>T) c.1853C>T (n.1853C>T) c.384C>T c.2119C>T (n.2119C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53246999G>C	CA2645717397	LRP8	c.19C>G (n.19C>G) c.2545C>G (n.2545C>G) c.1076C>G (n.1076C>G) c.449C>G c.2446C>G (n.2446C>G) c.1632C>G n.2371C>G c.413C>G (n.413C>G) c.2041C>G (n.2041C>G) c.755C>G n.2239C>G c.2130C>G (n.2130C>G) c.673C>G c.2677-1018C>G (n.2677-1018C>G) c.2318C>G n.2624C>G n.9375C>G c.2122C>G (n.2122C>G) c.1853C>G (n.1853C>G) c.384C>G c.2119C>G (n.2119C>G)	gnomAD v4
1	g.53246999G=	CA1167228767	LRP8	c.19C= (n.19C=) c.2545C= (n.2545C=) c.1076C= (n.1076C=) c.449C= c.2446C= (n.2446C=) c.1632C= n.2371C= c.413C= (n.413C=) c.2041C= (n.2041C=) c.755C= n.2239C= c.2130C= (n.2130C=) c.673C= c.2677-1018C= (n.2677-1018C=) c.2318C= n.2624C= n.9375C= c.2122C= (n.2122C=) c.1853C= (n.1853C=) c.384C= c.2119C= (n.2119C=)
1	g.53246999G>T	CA2743636484	LRP8	c.19C>A (n.19C>A) c.2545C>A (n.2545C>A) c.1076C>A (n.1076C>A) c.449C>A c.2446C>A (n.2446C>A) c.1632C>A n.2371C>A c.413C>A (n.413C>A) c.2041C>A (n.2041C>A) c.755C>A n.2239C>A c.2130C>A (n.2130C>A) c.673C>A c.2677-1018C>A (n.2677-1018C>A) c.2318C>A n.2624C>A n.9375C>A c.2122C>A (n.2122C>A) c.1853C>A (n.1853C>A) c.384C>A c.2119C>A (n.2119C>A)
1	g.53247002G>A	CA2645717399	LRP8	c.16C>T (n.16C>T) c.2542C>T (n.2542C>T) c.1073C>T (n.1073C>T) c.446C>T c.2443C>T (n.2443C>T) c.1629C>T n.2368C>T c.410C>T (n.410C>T) c.2038C>T (n.2038C>T) c.752C>T n.2236C>T c.2127C>T (n.2127C>T) c.670C>T c.2677-1021C>T (n.2677-1021C>T) c.2315C>T n.2621C>T n.9372C>T c.2119C>T (n.2119C>T) c.1850C>T (n.1850C>T) c.381C>T c.2116C>T (n.2116C>T)	gnomAD v4
1	g.53247006del	CA2645717398	LRP8	c.16del (n.16del) c.2542del (n.2542del) c.1073del (n.1073del) c.446del c.2443del (n.2443del) c.1629del n.2368del c.410del (n.410del) c.2038del (n.2038del) c.752del n.2236del c.2127del (n.2127del) c.670del c.2677-1021del (n.2677-1021del) c.2315del n.2621del n.9372del c.2119del (n.2119del) c.1850del (n.1850del) c.381del c.2116del (n.2116del)	gnomAD v4
1	g.53247003G>A	CA859819	LRP8	c.15C>T (n.15C>T) c.2541C>T (n.2541C>T) c.1072C>T (n.1072C>T) c.445C>T c.2442C>T (n.2442C>T) c.1628C>T n.2367C>T c.409C>T (n.409C>T) c.2037C>T (n.2037C>T) c.751C>T n.2235C>T c.2126C>T (n.2126C>T) c.669C>T c.2677-1022C>T (n.2677-1022C>T) c.2314C>T n.2620C>T n.9371C>T c.2118C>T (n.2118C>T) c.1849C>T (n.1849C>T) c.380C>T c.2115C>T (n.2115C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247003G>C	CA859818	LRP8	c.15C>G (n.15C>G) c.2541C>G (n.2541C>G) c.1072C>G (n.1072C>G) c.445C>G c.2442C>G (n.2442C>G) c.1628C>G n.2367C>G c.409C>G (n.409C>G) c.2037C>G (n.2037C>G) c.751C>G n.2235C>G c.2126C>G (n.2126C>G) c.669C>G c.2677-1022C>G (n.2677-1022C>G) c.2314C>G n.2620C>G n.9371C>G c.2118C>G (n.2118C>G) c.1849C>G (n.1849C>G) c.380C>G c.2115C>G (n.2115C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247003G=	CA1143775050	LRP8	c.15C= (n.15C=) c.2541C= (n.2541C=) c.1072C= (n.1072C=) c.445C= c.2442C= (n.2442C=) c.1628C= n.2367C= c.409C= (n.409C=) c.2037C= (n.2037C=) c.751C= n.2235C= c.2126C= (n.2126C=) c.669C= c.2677-1022C= (n.2677-1022C=) c.2314C= n.2620C= n.9371C= c.2118C= (n.2118C=) c.1849C= (n.1849C=) c.380C= c.2115C= (n.2115C=)
1	g.53247003G>T	CA22614149	LRP8	c.15C>A (n.15C>A) c.2541C>A (n.2541C>A) c.1072C>A (n.1072C>A) c.445C>A c.2442C>A (n.2442C>A) c.1628C>A n.2367C>A c.409C>A (n.409C>A) c.2037C>A (n.2037C>A) c.751C>A n.2235C>A c.2126C>A (n.2126C>A) c.669C>A c.2677-1022C>A (n.2677-1022C>A) c.2314C>A n.2620C>A n.9371C>A c.2118C>A (n.2118C>A) c.1849C>A (n.1849C>A) c.380C>A c.2115C>A (n.2115C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247006G>A	CA22614152	LRP8	c.12C>T (n.12C>T) c.2538C>T (n.2538C>T) c.1069C>T (n.1069C>T) c.442C>T c.2439C>T (n.2439C>T) c.1625C>T n.2364C>T c.406C>T (n.406C>T) c.2034C>T (n.2034C>T) c.748C>T n.2232C>T c.2123C>T (n.2123C>T) c.666C>T c.2677-1025C>T (n.2677-1025C>T) c.2311C>T n.2617C>T n.9368C>T c.2115C>T (n.2115C>T) c.1846C>T (n.1846C>T) c.377C>T c.2112C>T (n.2112C>T)	dbSNP
1	g.53247006G=	CA1144024042	LRP8	c.12C= (n.12C=) c.2538C= (n.2538C=) c.1069C= (n.1069C=) c.442C= c.2439C= (n.2439C=) c.1625C= n.2364C= c.406C= (n.406C=) c.2034C= (n.2034C=) c.748C= n.2232C= c.2123C= (n.2123C=) c.666C= c.2677-1025C= (n.2677-1025C=) c.2311C= n.2617C= n.9368C= c.2115C= (n.2115C=) c.1846C= (n.1846C=) c.377C= c.2112C= (n.2112C=)
1	g.53247006G>T	CA859820	LRP8	c.12C>A (n.12C>A) c.2538C>A (n.2538C>A) c.1069C>A (n.1069C>A) c.442C>A c.2439C>A (n.2439C>A) c.1625C>A n.2364C>A c.406C>A (n.406C>A) c.2034C>A (n.2034C>A) c.748C>A n.2232C>A c.2123C>A (n.2123C>A) c.666C>A c.2677-1025C>A (n.2677-1025C>A) c.2311C>A n.2617C>A n.9368C>A c.2115C>A (n.2115C>A) c.1846C>A (n.1846C>A) c.377C>A c.2112C>A (n.2112C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247008G>T	CA2645717400	LRP8	c.10C>A (n.10C>A) c.2536C>A (n.2536C>A) c.1067C>A (n.1067C>A) c.440C>A c.2437C>A (n.2437C>A) c.1623C>A n.2362C>A c.404C>A (n.404C>A) c.2032C>A (n.2032C>A) c.746C>A n.2230C>A c.2121C>A (n.2121C>A) c.664C>A c.2677-1027C>A (n.2677-1027C>A) c.2309C>A n.2615C>A n.9366C>A c.2113C>A (n.2113C>A) c.1844C>A (n.1844C>A) c.375C>A c.2110C>A (n.2110C>A)	gnomAD v4
1	g.53247010T>C	CA2574374275	LRP8	c.8A>G (n.8A>G) c.2534A>G (n.2534A>G) c.1065A>G (n.1065A>G) c.438A>G c.2435A>G (n.2435A>G) c.1621A>G n.2360A>G c.402A>G (n.402A>G) c.2030A>G (n.2030A>G) c.744A>G n.2228A>G c.2119A>G (n.2119A>G) c.662A>G c.2677-1029A>G (n.2677-1029A>G) c.2307A>G n.2613A>G n.9364A>G c.2111A>G (n.2111A>G) c.1842A>G (n.1842A>G) c.373A>G c.2108A>G (n.2108A>G)	gnomAD v4
1	g.53247013C>G	CA2743636485	LRP8	c.5G>C (n.5G>C) c.2531G>C (n.2531G>C) c.1062G>C (n.1062G>C) c.435G>C c.2432G>C (n.2432G>C) c.1618G>C n.2357G>C c.399G>C (n.399G>C) c.2027G>C (n.2027G>C) c.741G>C n.2225G>C c.2116G>C (n.2116G>C) c.659G>C c.2677-1032G>C (n.2677-1032G>C) c.2304G>C n.2610G>C n.9361G>C c.2108G>C (n.2108G>C) c.1839G>C (n.1839G>C) c.370G>C c.2105G>C (n.2105G>C)
1	g.53247014A=	CA1167228768	LRP8	c.4T= (n.4T=) c.2530T= (n.2530T=) c.1061T= (n.1061T=) c.434T= c.2431T= (n.2431T=) c.1617T= n.2356T= c.398T= (n.398T=) c.2026T= (n.2026T=) c.740T= n.2224T= c.2115T= (n.2115T=) c.658T= c.2677-1033T= (n.2677-1033T=) c.2303T= n.2609T= n.9360T= c.2107T= (n.2107T=) c.1838T= (n.1838T=) c.369T= c.2104T= (n.2104T=)
1	g.53247014A>C	CA522912614	LRP8	c.4T>G (n.4T>G) c.2530T>G (n.2530T>G) c.1061T>G (n.1061T>G) c.434T>G c.2431T>G (n.2431T>G) c.1617T>G n.2356T>G c.398T>G (n.398T>G) c.2026T>G (n.2026T>G) c.740T>G n.2224T>G c.2115T>G (n.2115T>G) c.658T>G c.2677-1033T>G (n.2677-1033T>G) c.2303T>G n.2609T>G n.9360T>G c.2107T>G (n.2107T>G) c.1838T>G (n.1838T>G) c.369T>G c.2104T>G (n.2104T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247014A>T	CA1167228769	LRP8	c.4T>A (n.4T>A) c.2530T>A (n.2530T>A) c.1061T>A (n.1061T>A) c.434T>A c.2431T>A (n.2431T>A) c.1617T>A n.2356T>A c.398T>A (n.398T>A) c.2026T>A (n.2026T>A) c.740T>A n.2224T>A c.2115T>A (n.2115T>A) c.658T>A c.2677-1033T>A (n.2677-1033T>A) c.2303T>A n.2609T>A n.9360T>A c.2107T>A (n.2107T>A) c.1838T>A (n.1838T>A) c.369T>A c.2104T>A (n.2104T>A)	dbSNP gnomAD v4
1	g.53247015T>C	CA2645717401	LRP8	c.3A>G (n.3A>G) c.2529A>G (n.2529A>G) c.1060A>G (n.1060A>G) c.433A>G c.2430A>G (n.2430A>G) c.1616A>G n.2355A>G c.397A>G (n.397A>G) c.2025A>G (n.2025A>G) c.739A>G n.2223A>G c.2114A>G (n.2114A>G) c.657A>G c.2677-1034A>G (n.2677-1034A>G) c.2302A>G n.2608A>G n.9359A>G c.2106A>G (n.2106A>G) c.1837A>G (n.1837A>G) c.368A>G c.2103A>G (n.2103A>G)	gnomAD v4
1	g.53247016C>A	CA2645717402	LRP8	c.2G>T (n.2G>T) c.2528G>T (n.2528G>T) c.1059G>T (n.1059G>T) c.432G>T c.2429G>T (n.2429G>T) c.1615G>T n.2354G>T c.396G>T (n.396G>T) c.2024G>T (n.2024G>T) c.738G>T n.2222G>T c.2113G>T (n.2113G>T) c.656G>T c.2677-1035G>T (n.2677-1035G>T) c.2301G>T n.2607G>T n.9358G>T c.2105G>T (n.2105G>T) c.1836G>T (n.1836G>T) c.367G>T c.2102G>T (n.2102G>T)	gnomAD v4
1	g.53247016C=	CA1167228770	LRP8	c.2G= (n.2G=) c.2528G= (n.2528G=) c.1059G= (n.1059G=) c.432G= c.2429G= (n.2429G=) c.1615G= n.2354G= c.396G= (n.396G=) c.2024G= (n.2024G=) c.738G= n.2222G= c.2113G= (n.2113G=) c.656G= c.2677-1035G= (n.2677-1035G=) c.2301G= n.2607G= n.9358G= c.2105G= (n.2105G=) c.1836G= (n.1836G=) c.367G= c.2102G= (n.2102G=)
1	g.53247016C>G	CA859821	LRP8	c.2G>C (n.2G>C) c.2528G>C (n.2528G>C) c.1059G>C (n.1059G>C) c.432G>C c.2429G>C (n.2429G>C) c.1615G>C n.2354G>C c.396G>C (n.396G>C) c.2024G>C (n.2024G>C) c.738G>C n.2222G>C c.2113G>C (n.2113G>C) c.656G>C c.2677-1035G>C (n.2677-1035G>C) c.2301G>C n.2607G>C n.9358G>C c.2105G>C (n.2105G>C) c.1836G>C (n.1836G>C) c.367G>C c.2102G>C (n.2102G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53247018T>A	CA340399452	LRP8	c.2892A>T (p.Ter964Cys) c.2382A>T (p.Ter794Cys) c.2526A>T (p.Ter842Cys) c.1057A>T (n.1057A>T) c.430A>T c.2427A>T (p.Ter809Cys) c.1613A>T n.2352A>T c.394A>T (n.394A>T) c.2022A>T (p.Ter674Cys) c.736A>T c.2373A>T (p.Ter791Cys) c.2127A>T (p.Ter709Cys) n.2220A>T c.2111A>T (n.2111A>T) c.2505A>T (p.Ter835Cys) c.2199A>T (p.Ter733Cys) c.654A>T c.2677-1037A>T (n.2677-1037A>T) c.2299A>T c.2667A>T (p.Ter889Cys) n.2605A>T n.9356A>T c.2103A>T (p.Ter701Cys) c.2715A>T (p.Ter905Cys) c.1374A>T (p.Ter458Cys) c.1834A>T (n.1834A>T) c.365A>T c.2100A>T (p.Ter700Cys) c.2931A>T (p.Ter977Cys) c.2544A>T (p.Ter848Cys) c.2754A>T (p.Ter918Cys) c.2706A>T (p.Ter902Cys) c.2805A>T (p.Ter935Cys) c.2415A>T (p.Ter805Cys) c.3018A>T (p.Ter1006Cys) c.2766A>T (p.Ter922Cys) c.2529A>T (p.Ter843Cys) c.1674A>T (p.Ter558Cys)
1	g.53247018T>C	CA340399455	LRP8	c.2892A>G (p.Ter964Trp) c.2382A>G (p.Ter794Trp) c.2526A>G (p.Ter842Trp) c.1057A>G (n.1057A>G) c.430A>G c.2427A>G (p.Ter809Trp) c.1613A>G n.2352A>G c.394A>G (n.394A>G) c.2022A>G (p.Ter674Trp) c.736A>G c.2373A>G (p.Ter791Trp) c.2127A>G (p.Ter709Trp) n.2220A>G c.2111A>G (n.2111A>G) c.2505A>G (p.Ter835Trp) c.2199A>G (p.Ter733Trp) c.654A>G c.2677-1037A>G (n.2677-1037A>G) c.2299A>G c.2667A>G (p.Ter889Trp) n.2605A>G n.9356A>G c.2103A>G (p.Ter701Trp) c.2715A>G (p.Ter905Trp) c.1374A>G (p.Ter458Trp) c.1834A>G (n.1834A>G) c.365A>G c.2100A>G (p.Ter700Trp) c.2931A>G (p.Ter977Trp) c.2544A>G (p.Ter848Trp) c.2754A>G (p.Ter918Trp) c.2706A>G (p.Ter902Trp) c.2805A>G (p.Ter935Trp) c.2415A>G (p.Ter805Trp) c.3018A>G (p.Ter1006Trp) c.2766A>G (p.Ter922Trp) c.2529A>G (p.Ter843Trp) c.1674A>G (p.Ter558Trp)
1	g.53247018T>G	CA340399453	LRP8	c.2892A>C (p.Ter964Cys) c.2382A>C (p.Ter794Cys) c.2526A>C (p.Ter842Cys) c.1057A>C (n.1057A>C) c.430A>C c.2427A>C (p.Ter809Cys) c.1613A>C n.2352A>C c.394A>C (n.394A>C) c.2022A>C (p.Ter674Cys) c.736A>C c.2373A>C (p.Ter791Cys) c.2127A>C (p.Ter709Cys) n.2220A>C c.2111A>C (n.2111A>C) c.2505A>C (p.Ter835Cys) c.2199A>C (p.Ter733Cys) c.654A>C c.2677-1037A>C (n.2677-1037A>C) c.2299A>C c.2667A>C (p.Ter889Cys) n.2605A>C n.9356A>C c.2103A>C (p.Ter701Cys) c.2715A>C (p.Ter905Cys) c.1374A>C (p.Ter458Cys) c.1834A>C (n.1834A>C) c.365A>C c.2100A>C (p.Ter700Cys) c.2931A>C (p.Ter977Cys) c.2544A>C (p.Ter848Cys) c.2754A>C (p.Ter918Cys) c.2706A>C (p.Ter902Cys) c.2805A>C (p.Ter935Cys) c.2415A>C (p.Ter805Cys) c.3018A>C (p.Ter1006Cys) c.2766A>C (p.Ter922Cys) c.2529A>C (p.Ter843Cys) c.1674A>C (p.Ter558Cys)
1	g.53247019C>A	CA340399458	LRP8	c.2891G>T (p.Ter964Leu) c.2381G>T (p.Ter794Leu) c.2525G>T (p.Ter842Leu) c.1056G>T (n.1056G>T) c.429G>T c.2426G>T (p.Ter809Leu) c.1612G>T n.2351G>T c.393G>T (n.393G>T) c.2021G>T (p.Ter674Leu) c.735G>T c.2372G>T (p.Ter791Leu) c.2126G>T (p.Ter709Leu) n.2219G>T c.2110G>T (n.2110G>T) c.2504G>T (p.Ter835Leu) c.2198G>T (p.Ter733Leu) c.653G>T c.2677-1038G>T (n.2677-1038G>T) c.2298G>T c.2666G>T (p.Ter889Leu) n.2604G>T n.9355G>T c.2102G>T (p.Ter701Leu) c.2714G>T (p.Ter905Leu) c.1373G>T (p.Ter458Leu) c.1833G>T (n.1833G>T) c.364G>T c.2099G>T (p.Ter700Leu) c.2930G>T (p.Ter977Leu) c.2543G>T (p.Ter848Leu) c.2753G>T (p.Ter918Leu) c.2705G>T (p.Ter902Leu) c.2804G>T (p.Ter935Leu) c.2414G>T (p.Ter805Leu) c.3017G>T (p.Ter1006Leu) c.2765G>T (p.Ter922Leu) c.2528G>T (p.Ter843Leu) c.1673G>T (p.Ter558Leu)
1	g.53247019C>G	CA340399459	LRP8	c.2891G>C (p.Ter964Ser) c.2381G>C (p.Ter794Ser) c.2525G>C (p.Ter842Ser) c.1056G>C (n.1056G>C) c.429G>C c.2426G>C (p.Ter809Ser) c.1612G>C n.2351G>C c.393G>C (n.393G>C) c.2021G>C (p.Ter674Ser) c.735G>C c.2372G>C (p.Ter791Ser) c.2126G>C (p.Ter709Ser) n.2219G>C c.2110G>C (n.2110G>C) c.2504G>C (p.Ter835Ser) c.2198G>C (p.Ter733Ser) c.653G>C c.2677-1038G>C (n.2677-1038G>C) c.2298G>C c.2666G>C (p.Ter889Ser) n.2604G>C n.9355G>C c.2102G>C (p.Ter701Ser) c.2714G>C (p.Ter905Ser) c.1373G>C (p.Ter458Ser) c.1833G>C (n.1833G>C) c.364G>C c.2099G>C (p.Ter700Ser) c.2930G>C (p.Ter977Ser) c.2543G>C (p.Ter848Ser) c.2753G>C (p.Ter918Ser) c.2705G>C (p.Ter902Ser) c.2804G>C (p.Ter935Ser) c.2414G>C (p.Ter805Ser) c.3017G>C (p.Ter1006Ser) c.2765G>C (p.Ter922Ser) c.2528G>C (p.Ter843Ser) c.1673G>C (p.Ter558Ser)
1	g.53247019C>T	CA417902694	LRP8	c.2891G>A (p.Ter964=) c.2381G>A (p.Ter794=) c.2525G>A (p.Ter842=) c.1056G>A (n.1056G>A) c.429G>A c.2426G>A (p.Ter809=) c.1612G>A n.2351G>A c.393G>A (n.393G>A) c.2021G>A (p.Ter674=) c.735G>A c.2372G>A (p.Ter791=) c.2126G>A (p.Ter709=) n.2219G>A c.2110G>A (n.2110G>A) c.2504G>A (p.Ter835=) c.2198G>A (p.Ter733=) c.653G>A c.2677-1038G>A (n.2677-1038G>A) c.2298G>A c.2666G>A (p.Ter889=) n.2604G>A n.9355G>A c.2102G>A (p.Ter701=) c.2714G>A (p.Ter905=) c.1373G>A (p.Ter458=) c.1833G>A (n.1833G>A) c.364G>A c.2099G>A (p.Ter700=) c.2930G>A (p.Ter977=) c.2543G>A (p.Ter848=) c.2753G>A (p.Ter918=) c.2705G>A (p.Ter902=) c.2804G>A (p.Ter935=) c.2414G>A (p.Ter805=) c.3017G>A (p.Ter1006=) c.2765G>A (p.Ter922=) c.2528G>A (p.Ter843=) c.1673G>A (p.Ter558=)
1	g.53247020A>C	CA340399462	LRP8	c.2890T>G (p.Ter964Gly) c.2380T>G (p.Ter794Gly) c.2524T>G (p.Ter842Gly) c.1055T>G (n.1055T>G) c.428T>G c.2425T>G (p.Ter809Gly) c.1611T>G n.2350T>G c.392T>G (n.392T>G) c.2020T>G (p.Ter674Gly) c.734T>G c.2371T>G (p.Ter791Gly) c.2125T>G (p.Ter709Gly) n.2218T>G c.2109T>G (n.2109T>G) c.2503T>G (p.Ter835Gly) c.2197T>G (p.Ter733Gly) c.652T>G c.2677-1039T>G (n.2677-1039T>G) c.2297T>G c.2665T>G (p.Ter889Gly) n.2603T>G n.9354T>G c.2101T>G (p.Ter701Gly) c.2713T>G (p.Ter905Gly) c.1372T>G (p.Ter458Gly) c.1832T>G (n.1832T>G) c.363T>G c.2098T>G (p.Ter700Gly) c.2929T>G (p.Ter977Gly) c.2542T>G (p.Ter848Gly) c.2752T>G (p.Ter918Gly) c.2704T>G (p.Ter902Gly) c.2803T>G (p.Ter935Gly) c.2413T>G (p.Ter805Gly) c.3016T>G (p.Ter1006Gly) c.2764T>G (p.Ter922Gly) c.2527T>G (p.Ter843Gly) c.1672T>G (p.Ter558Gly)
1	g.53247020A>G	CA340399464	LRP8	c.2890T>C (p.Ter964Arg) c.2380T>C (p.Ter794Arg) c.2524T>C (p.Ter842Arg) c.1055T>C (n.1055T>C) c.428T>C c.2425T>C (p.Ter809Arg) c.1611T>C n.2350T>C c.392T>C (n.392T>C) c.2020T>C (p.Ter674Arg) c.734T>C c.2371T>C (p.Ter791Arg) c.2125T>C (p.Ter709Arg) n.2218T>C c.2109T>C (n.2109T>C) c.2503T>C (p.Ter835Arg) c.2197T>C (p.Ter733Arg) c.652T>C c.2677-1039T>C (n.2677-1039T>C) c.2297T>C c.2665T>C (p.Ter889Arg) n.2603T>C n.9354T>C c.2101T>C (p.Ter701Arg) c.2713T>C (p.Ter905Arg) c.1372T>C (p.Ter458Arg) c.1832T>C (n.1832T>C) c.363T>C c.2098T>C (p.Ter700Arg) c.2929T>C (p.Ter977Arg) c.2542T>C (p.Ter848Arg) c.2752T>C (p.Ter918Arg) c.2704T>C (p.Ter902Arg) c.2803T>C (p.Ter935Arg) c.2413T>C (p.Ter805Arg) c.3016T>C (p.Ter1006Arg) c.2764T>C (p.Ter922Arg) c.2527T>C (p.Ter843Arg) c.1672T>C (p.Ter558Arg)	gnomAD v4
1	g.53247020A>T	CA340399466	LRP8	c.2890T>A (p.Ter964Arg) c.2380T>A (p.Ter794Arg) c.2524T>A (p.Ter842Arg) c.1055T>A (n.1055T>A) c.428T>A c.2425T>A (p.Ter809Arg) c.1611T>A n.2350T>A c.392T>A (n.392T>A) c.2020T>A (p.Ter674Arg) c.734T>A c.2371T>A (p.Ter791Arg) c.2125T>A (p.Ter709Arg) n.2218T>A c.2109T>A (n.2109T>A) c.2503T>A (p.Ter835Arg) c.2197T>A (p.Ter733Arg) c.652T>A c.2677-1039T>A (n.2677-1039T>A) c.2297T>A c.2665T>A (p.Ter889Arg) n.2603T>A n.9354T>A c.2101T>A (p.Ter701Arg) c.2713T>A (p.Ter905Arg) c.1372T>A (p.Ter458Arg) c.1832T>A (n.1832T>A) c.363T>A c.2098T>A (p.Ter700Arg) c.2929T>A (p.Ter977Arg) c.2542T>A (p.Ter848Arg) c.2752T>A (p.Ter918Arg) c.2704T>A (p.Ter902Arg) c.2803T>A (p.Ter935Arg) c.2413T>A (p.Ter805Arg) c.3016T>A (p.Ter1006Arg) c.2764T>A (p.Ter922Arg) c.2527T>A (p.Ter843Arg) c.1672T>A (p.Ter558Arg)
1	g.53247021G>A	CA417902697	LRP8	c.2889C>T (p.Pro963=) c.2379C>T (p.Pro793=) c.2523C>T (p.Pro841=) c.1054C>T (n.1054C>T) c.427C>T c.2424C>T (p.Pro808=) c.1610C>T n.2349C>T c.391C>T (n.391C>T) c.2019C>T (p.Pro673=) c.733C>T c.2370C>T (p.Pro790=) c.2124C>T (p.Pro708=) n.2217C>T c.2108C>T (n.2108C>T) c.2502C>T (p.Pro834=) c.2196C>T (p.Pro732=) c.651C>T c.2677-1040C>T (n.2677-1040C>T) c.2296C>T c.2664C>T (p.Pro888=) n.2602C>T n.9353C>T c.2100C>T (p.Pro700=) c.2712C>T (p.Pro904=) c.1371C>T (p.Pro457=) c.1831C>T (n.1831C>T) c.362C>T c.2097C>T (p.Pro699=) c.2928C>T (p.Pro976=) c.2541C>T (p.Pro847=) c.2751C>T (p.Pro917=) c.2703C>T (p.Pro901=) c.2802C>T (p.Pro934=) c.2412C>T (p.Pro804=) c.3015C>T (p.Pro1005=) c.2763C>T (p.Pro921=) c.2526C>T (p.Pro842=) c.1671C>T (p.Pro557=)
1	g.53247021G>C	CA417902695	LRP8	c.2889C>G (p.Pro963=) c.2379C>G (p.Pro793=) c.2523C>G (p.Pro841=) c.1054C>G (n.1054C>G) c.427C>G c.2424C>G (p.Pro808=) c.1610C>G n.2349C>G c.391C>G (n.391C>G) c.2019C>G (p.Pro673=) c.733C>G c.2370C>G (p.Pro790=) c.2124C>G (p.Pro708=) n.2217C>G c.2108C>G (n.2108C>G) c.2502C>G (p.Pro834=) c.2196C>G (p.Pro732=) c.651C>G c.2677-1040C>G (n.2677-1040C>G) c.2296C>G c.2664C>G (p.Pro888=) n.2602C>G n.9353C>G c.2100C>G (p.Pro700=) c.2712C>G (p.Pro904=) c.1371C>G (p.Pro457=) c.1831C>G (n.1831C>G) c.362C>G c.2097C>G (p.Pro699=) c.2928C>G (p.Pro976=) c.2541C>G (p.Pro847=) c.2751C>G (p.Pro917=) c.2703C>G (p.Pro901=) c.2802C>G (p.Pro934=) c.2412C>G (p.Pro804=) c.3015C>G (p.Pro1005=) c.2763C>G (p.Pro921=) c.2526C>G (p.Pro842=) c.1671C>G (p.Pro557=)
1	g.53247021G>T	CA417902696	LRP8	c.2889C>A (p.Pro963=) c.2379C>A (p.Pro793=) c.2523C>A (p.Pro841=) c.1054C>A (n.1054C>A) c.427C>A c.2424C>A (p.Pro808=) c.1610C>A n.2349C>A c.391C>A (n.391C>A) c.2019C>A (p.Pro673=) c.733C>A c.2370C>A (p.Pro790=) c.2124C>A (p.Pro708=) n.2217C>A c.2108C>A (n.2108C>A) c.2502C>A (p.Pro834=) c.2196C>A (p.Pro732=) c.651C>A c.2677-1040C>A (n.2677-1040C>A) c.2296C>A c.2664C>A (p.Pro888=) n.2602C>A n.9353C>A c.2100C>A (p.Pro700=) c.2712C>A (p.Pro904=) c.1371C>A (p.Pro457=) c.1831C>A (n.1831C>A) c.362C>A c.2097C>A (p.Pro699=) c.2928C>A (p.Pro976=) c.2541C>A (p.Pro847=) c.2751C>A (p.Pro917=) c.2703C>A (p.Pro901=) c.2802C>A (p.Pro934=) c.2412C>A (p.Pro804=) c.3015C>A (p.Pro1005=) c.2763C>A (p.Pro921=) c.2526C>A (p.Pro842=) c.1671C>A (p.Pro557=)	gnomAD v4
1	g.53247022G>A	CA340399468	LRP8	c.2888C>T (p.Pro963Leu) c.2378C>T (p.Pro793Leu) c.2522C>T (p.Pro841Leu) c.1053C>T (n.1053C>T) c.426C>T c.2423C>T (p.Pro808Leu) c.1609C>T n.2348C>T c.390C>T (n.390C>T) c.2018C>T (p.Pro673Leu) c.732C>T c.2369C>T (p.Pro790Leu) c.2123C>T (p.Pro708Leu) n.2216C>T c.2107C>T (n.2107C>T) c.2501C>T (p.Pro834Leu) c.2195C>T (p.Pro732Leu) c.650C>T c.2677-1041C>T (n.2677-1041C>T) c.2295C>T c.2663C>T (p.Pro888Leu) n.2601C>T n.9352C>T c.2099C>T (p.Pro700Leu) c.2711C>T (p.Pro904Leu) c.1370C>T (p.Pro457Leu) c.1830C>T (n.1830C>T) c.361C>T c.2096C>T (p.Pro699Leu) c.2927C>T (p.Pro976Leu) c.2540C>T (p.Pro847Leu) c.2750C>T (p.Pro917Leu) c.2702C>T (p.Pro901Leu) c.2801C>T (p.Pro934Leu) c.2411C>T (p.Pro804Leu) c.3014C>T (p.Pro1005Leu) c.2762C>T (p.Pro921Leu) c.2525C>T (p.Pro842Leu) c.1670C>T (p.Pro557Leu)	dbSNP gnomAD v4
1	g.53247022G>C	CA340399470	LRP8	c.2888C>G (p.Pro963Arg) c.2378C>G (p.Pro793Arg) c.2522C>G (p.Pro841Arg) c.1053C>G (n.1053C>G) c.426C>G c.2423C>G (p.Pro808Arg) c.1609C>G n.2348C>G c.390C>G (n.390C>G) c.2018C>G (p.Pro673Arg) c.732C>G c.2369C>G (p.Pro790Arg) c.2123C>G (p.Pro708Arg) n.2216C>G c.2107C>G (n.2107C>G) c.2501C>G (p.Pro834Arg) c.2195C>G (p.Pro732Arg) c.650C>G c.2677-1041C>G (n.2677-1041C>G) c.2295C>G c.2663C>G (p.Pro888Arg) n.2601C>G n.9352C>G c.2099C>G (p.Pro700Arg) c.2711C>G (p.Pro904Arg) c.1370C>G (p.Pro457Arg) c.1830C>G (n.1830C>G) c.361C>G c.2096C>G (p.Pro699Arg) c.2927C>G (p.Pro976Arg) c.2540C>G (p.Pro847Arg) c.2750C>G (p.Pro917Arg) c.2702C>G (p.Pro901Arg) c.2801C>G (p.Pro934Arg) c.2411C>G (p.Pro804Arg) c.3014C>G (p.Pro1005Arg) c.2762C>G (p.Pro921Arg) c.2525C>G (p.Pro842Arg) c.1670C>G (p.Pro557Arg)	gnomAD v4
1	g.53247022G=	CA1167228771	LRP8	c.2888C= (p.Pro963=) c.2378C= (p.Pro793=) c.2522C= (p.Pro841=) c.1053C= (n.1053C=) c.426C= c.2423C= (p.Pro808=) c.1609C= n.2348C= c.390C= (n.390C=) c.2018C= (p.Pro673=) c.732C= c.2369C= (p.Pro790=) c.2123C= (p.Pro708=) n.2216C= c.2107C= (n.2107C=) c.2501C= (p.Pro834=) c.2195C= (p.Pro732=) c.650C= c.2677-1041C= (n.2677-1041C=) c.2295C= c.2663C= (p.Pro888=) n.2601C= n.9352C= c.2099C= (p.Pro700=) c.2711C= (p.Pro904=) c.1370C= (p.Pro457=) c.1830C= (n.1830C=) c.361C= c.2096C= (p.Pro699=) c.2927C= (p.Pro976=) c.2540C= (p.Pro847=) c.2750C= (p.Pro917=) c.2702C= (p.Pro901=) c.2801C= (p.Pro934=) c.2411C= (p.Pro804=) c.3014C= (p.Pro1005=) c.2762C= (p.Pro921=) c.2525C= (p.Pro842=) c.1670C= (p.Pro557=)
1	g.53247022G>T	CA340399473	LRP8	c.2888C>A (p.Pro963His) c.2378C>A (p.Pro793His) c.2522C>A (p.Pro841His) c.1053C>A (n.1053C>A) c.426C>A c.2423C>A (p.Pro808His) c.1609C>A n.2348C>A c.390C>A (n.390C>A) c.2018C>A (p.Pro673His) c.732C>A c.2369C>A (p.Pro790His) c.2123C>A (p.Pro708His) n.2216C>A c.2107C>A (n.2107C>A) c.2501C>A (p.Pro834His) c.2195C>A (p.Pro732His) c.650C>A c.2677-1041C>A (n.2677-1041C>A) c.2295C>A c.2663C>A (p.Pro888His) n.2601C>A n.9352C>A c.2099C>A (p.Pro700His) c.2711C>A (p.Pro904His) c.1370C>A (p.Pro457His) c.1830C>A (n.1830C>A) c.361C>A c.2096C>A (p.Pro699His) c.2927C>A (p.Pro976His) c.2540C>A (p.Pro847His) c.2750C>A (p.Pro917His) c.2702C>A (p.Pro901His) c.2801C>A (p.Pro934His) c.2411C>A (p.Pro804His) c.3014C>A (p.Pro1005His) c.2762C>A (p.Pro921His) c.2525C>A (p.Pro842His) c.1670C>A (p.Pro557His)
1	g.53247023G>A	CA340399476	LRP8	c.2887C>T (p.Pro963Ser) c.2377C>T (p.Pro793Ser) c.2521C>T (p.Pro841Ser) c.1052C>T (n.1052C>T) c.425C>T c.2422C>T (p.Pro808Ser) c.1608C>T n.2347C>T c.389C>T (n.389C>T) c.2017C>T (p.Pro673Ser) c.731C>T c.2368C>T (p.Pro790Ser) c.2122C>T (p.Pro708Ser) n.2215C>T c.2106C>T (n.2106C>T) c.2500C>T (p.Pro834Ser) c.2194C>T (p.Pro732Ser) c.649C>T c.2677-1042C>T (n.2677-1042C>T) c.2294C>T c.2662C>T (p.Pro888Ser) n.2600C>T n.9351C>T c.2098C>T (p.Pro700Ser) c.2710C>T (p.Pro904Ser) c.1369C>T (p.Pro457Ser) c.1829C>T (n.1829C>T) c.360C>T c.2095C>T (p.Pro699Ser) c.2926C>T (p.Pro976Ser) c.2539C>T (p.Pro847Ser) c.2749C>T (p.Pro917Ser) c.2701C>T (p.Pro901Ser) c.2800C>T (p.Pro934Ser) c.2410C>T (p.Pro804Ser) c.3013C>T (p.Pro1005Ser) c.2761C>T (p.Pro921Ser) c.2524C>T (p.Pro842Ser) c.1669C>T (p.Pro557Ser)	gnomAD v4
1	g.53247023G>C	CA340399478	LRP8	c.2887C>G (p.Pro963Ala) c.2377C>G (p.Pro793Ala) c.2521C>G (p.Pro841Ala) c.1052C>G (n.1052C>G) c.425C>G c.2422C>G (p.Pro808Ala) c.1608C>G n.2347C>G c.389C>G (n.389C>G) c.2017C>G (p.Pro673Ala) c.731C>G c.2368C>G (p.Pro790Ala) c.2122C>G (p.Pro708Ala) n.2215C>G c.2106C>G (n.2106C>G) c.2500C>G (p.Pro834Ala) c.2194C>G (p.Pro732Ala) c.649C>G c.2677-1042C>G (n.2677-1042C>G) c.2294C>G c.2662C>G (p.Pro888Ala) n.2600C>G n.9351C>G c.2098C>G (p.Pro700Ala) c.2710C>G (p.Pro904Ala) c.1369C>G (p.Pro457Ala) c.1829C>G (n.1829C>G) c.360C>G c.2095C>G (p.Pro699Ala) c.2926C>G (p.Pro976Ala) c.2539C>G (p.Pro847Ala) c.2749C>G (p.Pro917Ala) c.2701C>G (p.Pro901Ala) c.2800C>G (p.Pro934Ala) c.2410C>G (p.Pro804Ala) c.3013C>G (p.Pro1005Ala) c.2761C>G (p.Pro921Ala) c.2524C>G (p.Pro842Ala) c.1669C>G (p.Pro557Ala)
1	g.53247023G>T	CA340399480	LRP8	c.2887C>A (p.Pro963Thr) c.2377C>A (p.Pro793Thr) c.2521C>A (p.Pro841Thr) c.1052C>A (n.1052C>A) c.425C>A c.2422C>A (p.Pro808Thr) c.1608C>A n.2347C>A c.389C>A (n.389C>A) c.2017C>A (p.Pro673Thr) c.731C>A c.2368C>A (p.Pro790Thr) c.2122C>A (p.Pro708Thr) n.2215C>A c.2106C>A (n.2106C>A) c.2500C>A (p.Pro834Thr) c.2194C>A (p.Pro732Thr) c.649C>A c.2677-1042C>A (n.2677-1042C>A) c.2294C>A c.2662C>A (p.Pro888Thr) n.2600C>A n.9351C>A c.2098C>A (p.Pro700Thr) c.2710C>A (p.Pro904Thr) c.1369C>A (p.Pro457Thr) c.1829C>A (n.1829C>A) c.360C>A c.2095C>A (p.Pro699Thr) c.2926C>A (p.Pro976Thr) c.2539C>A (p.Pro847Thr) c.2749C>A (p.Pro917Thr) c.2701C>A (p.Pro901Thr) c.2800C>A (p.Pro934Thr) c.2410C>A (p.Pro804Thr) c.3013C>A (p.Pro1005Thr) c.2761C>A (p.Pro921Thr) c.2524C>A (p.Pro842Thr) c.1669C>A (p.Pro557Thr)
1	g.53247024T>A	CA417902700	LRP8	c.2886A>T (p.Leu962=) c.2376A>T (p.Leu792=) c.2520A>T (p.Leu840=) c.1051A>T (n.1051A>T) c.424A>T c.2421A>T (p.Leu807=) c.1607A>T n.2346A>T c.388A>T (n.388A>T) c.2016A>T (p.Leu672=) c.730A>T c.2367A>T (p.Leu789=) c.2121A>T (p.Leu707=) n.2214A>T c.2105A>T (n.2105A>T) c.2499A>T (p.Leu833=) c.2193A>T (p.Leu731=) c.648A>T c.2677-1043A>T (n.2677-1043A>T) c.2293A>T c.2661A>T (p.Leu887=) n.2599A>T n.9350A>T c.2097A>T (p.Leu699=) c.2709A>T (p.Leu903=) c.1368A>T (p.Leu456=) c.1828A>T (n.1828A>T) c.359A>T c.2094A>T (p.Leu698=) c.2925A>T (p.Leu975=) c.2538A>T (p.Leu846=) c.2748A>T (p.Leu916=) c.2700A>T (p.Leu900=) c.2799A>T (p.Leu933=) c.2409A>T (p.Leu803=) c.3012A>T (p.Leu1004=) c.2760A>T (p.Leu920=) c.2523A>T (p.Leu841=) c.1668A>T (p.Leu556=)
1	g.53247024T>C	CA417902699	LRP8	c.2886A>G (p.Leu962=) c.2376A>G (p.Leu792=) c.2520A>G (p.Leu840=) c.1051A>G (n.1051A>G) c.424A>G c.2421A>G (p.Leu807=) c.1607A>G n.2346A>G c.388A>G (n.388A>G) c.2016A>G (p.Leu672=) c.730A>G c.2367A>G (p.Leu789=) c.2121A>G (p.Leu707=) n.2214A>G c.2105A>G (n.2105A>G) c.2499A>G (p.Leu833=) c.2193A>G (p.Leu731=) c.648A>G c.2677-1043A>G (n.2677-1043A>G) c.2293A>G c.2661A>G (p.Leu887=) n.2599A>G n.9350A>G c.2097A>G (p.Leu699=) c.2709A>G (p.Leu903=) c.1368A>G (p.Leu456=) c.1828A>G (n.1828A>G) c.359A>G c.2094A>G (p.Leu698=) c.2925A>G (p.Leu975=) c.2538A>G (p.Leu846=) c.2748A>G (p.Leu916=) c.2700A>G (p.Leu900=) c.2799A>G (p.Leu933=) c.2409A>G (p.Leu803=) c.3012A>G (p.Leu1004=) c.2760A>G (p.Leu920=) c.2523A>G (p.Leu841=) c.1668A>G (p.Leu556=)	dbSNP gnomAD v3 gnomAD v4
1	g.53247024T>G	CA417902698	LRP8	c.2886A>C (p.Leu962=) c.2376A>C (p.Leu792=) c.2520A>C (p.Leu840=) c.1051A>C (n.1051A>C) c.424A>C c.2421A>C (p.Leu807=) c.1607A>C n.2346A>C c.388A>C (n.388A>C) c.2016A>C (p.Leu672=) c.730A>C c.2367A>C (p.Leu789=) c.2121A>C (p.Leu707=) n.2214A>C c.2105A>C (n.2105A>C) c.2499A>C (p.Leu833=) c.2193A>C (p.Leu731=) c.648A>C c.2677-1043A>C (n.2677-1043A>C) c.2293A>C c.2661A>C (p.Leu887=) n.2599A>C n.9350A>C c.2097A>C (p.Leu699=) c.2709A>C (p.Leu903=) c.1368A>C (p.Leu456=) c.1828A>C (n.1828A>C) c.359A>C c.2094A>C (p.Leu698=) c.2925A>C (p.Leu975=) c.2538A>C (p.Leu846=) c.2748A>C (p.Leu916=) c.2700A>C (p.Leu900=) c.2799A>C (p.Leu933=) c.2409A>C (p.Leu803=) c.3012A>C (p.Leu1004=) c.2760A>C (p.Leu920=) c.2523A>C (p.Leu841=) c.1668A>C (p.Leu556=)
1	g.53247024T=	CA1167228772	LRP8	c.2886A= (p.Leu962=) c.2376A= (p.Leu792=) c.2520A= (p.Leu840=) c.1051A= (n.1051A=) c.424A= c.2421A= (p.Leu807=) c.1607A= n.2346A= c.388A= (n.388A=) c.2016A= (p.Leu672=) c.730A= c.2367A= (p.Leu789=) c.2121A= (p.Leu707=) n.2214A= c.2105A= (n.2105A=) c.2499A= (p.Leu833=) c.2193A= (p.Leu731=) c.648A= c.2677-1043A= (n.2677-1043A=) c.2293A= c.2661A= (p.Leu887=) n.2599A= n.9350A= c.2097A= (p.Leu699=) c.2709A= (p.Leu903=) c.1368A= (p.Leu456=) c.1828A= (n.1828A=) c.359A= c.2094A= (p.Leu698=) c.2925A= (p.Leu975=) c.2538A= (p.Leu846=) c.2748A= (p.Leu916=) c.2700A= (p.Leu900=) c.2799A= (p.Leu933=) c.2409A= (p.Leu803=) c.3012A= (p.Leu1004=) c.2760A= (p.Leu920=) c.2523A= (p.Leu841=) c.1668A= (p.Leu556=)
1	g.53247025A>C	CA340399486	LRP8	c.2885T>G (p.Leu962Arg) c.2375T>G (p.Leu792Arg) c.2519T>G (p.Leu840Arg) c.1050T>G (n.1050T>G) c.423T>G c.2420T>G (p.Leu807Arg) c.1606T>G n.2345T>G c.387T>G (n.387T>G) c.2015T>G (p.Leu672Arg) c.729T>G c.2366T>G (p.Leu789Arg) c.2120T>G (p.Leu707Arg) n.2213T>G c.2104T>G (n.2104T>G) c.2498T>G (p.Leu833Arg) c.2192T>G (p.Leu731Arg) c.647T>G c.2677-1044T>G (n.2677-1044T>G) c.2292T>G c.2660T>G (p.Leu887Arg) n.2598T>G n.9349T>G c.2096T>G (p.Leu699Arg) c.2708T>G (p.Leu903Arg) c.1367T>G (p.Leu456Arg) c.1827T>G (n.1827T>G) c.358T>G c.2093T>G (p.Leu698Arg) c.2924T>G (p.Leu975Arg) c.2537T>G (p.Leu846Arg) c.2747T>G (p.Leu916Arg) c.2699T>G (p.Leu900Arg) c.2798T>G (p.Leu933Arg) c.2408T>G (p.Leu803Arg) c.3011T>G (p.Leu1004Arg) c.2759T>G (p.Leu920Arg) c.2522T>G (p.Leu841Arg) c.1667T>G (p.Leu556Arg)
1	g.53247025A>G	CA340399484	LRP8	c.2885T>C (p.Leu962Pro) c.2375T>C (p.Leu792Pro) c.2519T>C (p.Leu840Pro) c.1050T>C (n.1050T>C) c.423T>C c.2420T>C (p.Leu807Pro) c.1606T>C n.2345T>C c.387T>C (n.387T>C) c.2015T>C (p.Leu672Pro) c.729T>C c.2366T>C (p.Leu789Pro) c.2120T>C (p.Leu707Pro) n.2213T>C c.2104T>C (n.2104T>C) c.2498T>C (p.Leu833Pro) c.2192T>C (p.Leu731Pro) c.647T>C c.2677-1044T>C (n.2677-1044T>C) c.2292T>C c.2660T>C (p.Leu887Pro) n.2598T>C n.9349T>C c.2096T>C (p.Leu699Pro) c.2708T>C (p.Leu903Pro) c.1367T>C (p.Leu456Pro) c.1827T>C (n.1827T>C) c.358T>C c.2093T>C (p.Leu698Pro) c.2924T>C (p.Leu975Pro) c.2537T>C (p.Leu846Pro) c.2747T>C (p.Leu916Pro) c.2699T>C (p.Leu900Pro) c.2798T>C (p.Leu933Pro) c.2408T>C (p.Leu803Pro) c.3011T>C (p.Leu1004Pro) c.2759T>C (p.Leu920Pro) c.2522T>C (p.Leu841Pro) c.1667T>C (p.Leu556Pro)	COSMIC
1	g.53247025A>T	CA340399483	LRP8	c.2885T>A (p.Leu962Gln) c.2375T>A (p.Leu792Gln) c.2519T>A (p.Leu840Gln) c.1050T>A (n.1050T>A) c.423T>A c.2420T>A (p.Leu807Gln) c.1606T>A n.2345T>A c.387T>A (n.387T>A) c.2015T>A (p.Leu672Gln) c.729T>A c.2366T>A (p.Leu789Gln) c.2120T>A (p.Leu707Gln) n.2213T>A c.2104T>A (n.2104T>A) c.2498T>A (p.Leu833Gln) c.2192T>A (p.Leu731Gln) c.647T>A c.2677-1044T>A (n.2677-1044T>A) c.2292T>A c.2660T>A (p.Leu887Gln) n.2598T>A n.9349T>A c.2096T>A (p.Leu699Gln) c.2708T>A (p.Leu903Gln) c.1367T>A (p.Leu456Gln) c.1827T>A (n.1827T>A) c.358T>A c.2093T>A (p.Leu698Gln) c.2924T>A (p.Leu975Gln) c.2537T>A (p.Leu846Gln) c.2747T>A (p.Leu916Gln) c.2699T>A (p.Leu900Gln) c.2798T>A (p.Leu933Gln) c.2408T>A (p.Leu803Gln) c.3011T>A (p.Leu1004Gln) c.2759T>A (p.Leu920Gln) c.2522T>A (p.Leu841Gln) c.1667T>A (p.Leu556Gln)
1	g.53247026G>A	CA859822	LRP8	c.2884C>T (p.Leu962=) c.2374C>T (p.Leu792=) c.2518C>T (p.Leu840=) c.1049C>T (n.1049C>T) c.422C>T c.2419C>T (p.Leu807=) c.1605C>T n.2344C>T c.386C>T (n.386C>T) c.2014C>T (p.Leu672=) c.728C>T c.2365C>T (p.Leu789=) c.2119C>T (p.Leu707=) n.2212C>T c.2103C>T (n.2103C>T) c.2497C>T (p.Leu833=) c.2191C>T (p.Leu731=) c.646C>T c.2677-1045C>T (n.2677-1045C>T) c.2291C>T c.2659C>T (p.Leu887=) n.2597C>T n.9348C>T c.2095C>T (p.Leu699=) c.2707C>T (p.Leu903=) c.1366C>T (p.Leu456=) c.1826C>T (n.1826C>T) c.357C>T c.2092C>T (p.Leu698=) c.2923C>T (p.Leu975=) c.2536C>T (p.Leu846=) c.2746C>T (p.Leu916=) c.2698C>T (p.Leu900=) c.2797C>T (p.Leu933=) c.2407C>T (p.Leu803=) c.3010C>T (p.Leu1004=) c.2758C>T (p.Leu920=) c.2521C>T (p.Leu841=) c.1666C>T (p.Leu556=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53247026G>C	CA340399489	LRP8	c.2884C>G (p.Leu962Val) c.2374C>G (p.Leu792Val) c.2518C>G (p.Leu840Val) c.1049C>G (n.1049C>G) c.422C>G c.2419C>G (p.Leu807Val) c.1605C>G n.2344C>G c.386C>G (n.386C>G) c.2014C>G (p.Leu672Val) c.728C>G c.2365C>G (p.Leu789Val) c.2119C>G (p.Leu707Val) n.2212C>G c.2103C>G (n.2103C>G) c.2497C>G (p.Leu833Val) c.2191C>G (p.Leu731Val) c.646C>G c.2677-1045C>G (n.2677-1045C>G) c.2291C>G c.2659C>G (p.Leu887Val) n.2597C>G n.9348C>G c.2095C>G (p.Leu699Val) c.2707C>G (p.Leu903Val) c.1366C>G (p.Leu456Val) c.1826C>G (n.1826C>G) c.357C>G c.2092C>G (p.Leu698Val) c.2923C>G (p.Leu975Val) c.2536C>G (p.Leu846Val) c.2746C>G (p.Leu916Val) c.2698C>G (p.Leu900Val) c.2797C>G (p.Leu933Val) c.2407C>G (p.Leu803Val) c.3010C>G (p.Leu1004Val) c.2758C>G (p.Leu920Val) c.2521C>G (p.Leu841Val) c.1666C>G (p.Leu556Val)
1	g.53247026G=	CA1167228773	LRP8	c.2884C= (p.Leu962=) c.2374C= (p.Leu792=) c.2518C= (p.Leu840=) c.1049C= (n.1049C=) c.422C= c.2419C= (p.Leu807=) c.1605C= n.2344C= c.386C= (n.386C=) c.2014C= (p.Leu672=) c.728C= c.2365C= (p.Leu789=) c.2119C= (p.Leu707=) n.2212C= c.2103C= (n.2103C=) c.2497C= (p.Leu833=) c.2191C= (p.Leu731=) c.646C= c.2677-1045C= (n.2677-1045C=) c.2291C= c.2659C= (p.Leu887=) n.2597C= n.9348C= c.2095C= (p.Leu699=) c.2707C= (p.Leu903=) c.1366C= (p.Leu456=) c.1826C= (n.1826C=) c.357C= c.2092C= (p.Leu698=) c.2923C= (p.Leu975=) c.2536C= (p.Leu846=) c.2746C= (p.Leu916=) c.2698C= (p.Leu900=) c.2797C= (p.Leu933=) c.2407C= (p.Leu803=) c.3010C= (p.Leu1004=) c.2758C= (p.Leu920=) c.2521C= (p.Leu841=) c.1666C= (p.Leu556=)
1	g.53247026G>T	CA340399491	LRP8	c.2884C>A (p.Leu962Ile) c.2374C>A (p.Leu792Ile) c.2518C>A (p.Leu840Ile) c.1049C>A (n.1049C>A) c.422C>A c.2419C>A (p.Leu807Ile) c.1605C>A n.2344C>A c.386C>A (n.386C>A) c.2014C>A (p.Leu672Ile) c.728C>A c.2365C>A (p.Leu789Ile) c.2119C>A (p.Leu707Ile) n.2212C>A c.2103C>A (n.2103C>A) c.2497C>A (p.Leu833Ile) c.2191C>A (p.Leu731Ile) c.646C>A c.2677-1045C>A (n.2677-1045C>A) c.2291C>A c.2659C>A (p.Leu887Ile) n.2597C>A n.9348C>A c.2095C>A (p.Leu699Ile) c.2707C>A (p.Leu903Ile) c.1366C>A (p.Leu456Ile) c.1826C>A (n.1826C>A) c.357C>A c.2092C>A (p.Leu698Ile) c.2923C>A (p.Leu975Ile) c.2536C>A (p.Leu846Ile) c.2746C>A (p.Leu916Ile) c.2698C>A (p.Leu900Ile) c.2797C>A (p.Leu933Ile) c.2407C>A (p.Leu803Ile) c.3010C>A (p.Leu1004Ile) c.2758C>A (p.Leu920Ile) c.2521C>A (p.Leu841Ile) c.1666C>A (p.Leu556Ile)
1	g.53247027T>A	CA417902701	LRP8	c.2883A>T (p.Gly961=) c.2373A>T (p.Gly791=) c.2517A>T (p.Gly839=) c.1048A>T (n.1048A>T) c.421A>T c.2418A>T (p.Gly806=) c.1604A>T n.2343A>T c.385A>T (n.385A>T) c.2013A>T (p.Gly671=) c.727A>T c.2364A>T (p.Gly788=) c.2118A>T (p.Gly706=) n.2211A>T c.2102A>T (n.2102A>T) c.2496A>T (p.Gly832=) c.2190A>T (p.Gly730=) c.645A>T c.2677-1046A>T (n.2677-1046A>T) c.2290A>T c.2658A>T (p.Gly886=) n.2596A>T n.9347A>T c.2094A>T (p.Gly698=) c.2706A>T (p.Gly902=) c.1365A>T (p.Gly455=) c.1825A>T (n.1825A>T) c.356A>T c.2091A>T (p.Gly697=) c.2922A>T (p.Gly974=) c.2535A>T (p.Gly845=) c.2745A>T (p.Gly915=) c.2697A>T (p.Gly899=) c.2796A>T (p.Gly932=) c.2406A>T (p.Gly802=) c.3009A>T (p.Gly1003=) c.2757A>T (p.Gly919=) c.2520A>T (p.Gly840=) c.1665A>T (p.Gly555=)
1	g.53247027T>C	CA417902703	LRP8	c.2883A>G (p.Gly961=) c.2373A>G (p.Gly791=) c.2517A>G (p.Gly839=) c.1048A>G (n.1048A>G) c.421A>G c.2418A>G (p.Gly806=) c.1604A>G n.2343A>G c.385A>G (n.385A>G) c.2013A>G (p.Gly671=) c.727A>G c.2364A>G (p.Gly788=) c.2118A>G (p.Gly706=) n.2211A>G c.2102A>G (n.2102A>G) c.2496A>G (p.Gly832=) c.2190A>G (p.Gly730=) c.645A>G c.2677-1046A>G (n.2677-1046A>G) c.2290A>G c.2658A>G (p.Gly886=) n.2596A>G n.9347A>G c.2094A>G (p.Gly698=) c.2706A>G (p.Gly902=) c.1365A>G (p.Gly455=) c.1825A>G (n.1825A>G) c.356A>G c.2091A>G (p.Gly697=) c.2922A>G (p.Gly974=) c.2535A>G (p.Gly845=) c.2745A>G (p.Gly915=) c.2697A>G (p.Gly899=) c.2796A>G (p.Gly932=) c.2406A>G (p.Gly802=) c.3009A>G (p.Gly1003=) c.2757A>G (p.Gly919=) c.2520A>G (p.Gly840=) c.1665A>G (p.Gly555=)	gnomAD v4
1	g.53247027T>G	CA417902702	LRP8	c.2883A>C (p.Gly961=) c.2373A>C (p.Gly791=) c.2517A>C (p.Gly839=) c.1048A>C (n.1048A>C) c.421A>C c.2418A>C (p.Gly806=) c.1604A>C n.2343A>C c.385A>C (n.385A>C) c.2013A>C (p.Gly671=) c.727A>C c.2364A>C (p.Gly788=) c.2118A>C (p.Gly706=) n.2211A>C c.2102A>C (n.2102A>C) c.2496A>C (p.Gly832=) c.2190A>C (p.Gly730=) c.645A>C c.2677-1046A>C (n.2677-1046A>C) c.2290A>C c.2658A>C (p.Gly886=) n.2596A>C n.9347A>C c.2094A>C (p.Gly698=) c.2706A>C (p.Gly902=) c.1365A>C (p.Gly455=) c.1825A>C (n.1825A>C) c.356A>C c.2091A>C (p.Gly697=) c.2922A>C (p.Gly974=) c.2535A>C (p.Gly845=) c.2745A>C (p.Gly915=) c.2697A>C (p.Gly899=) c.2796A>C (p.Gly932=) c.2406A>C (p.Gly802=) c.3009A>C (p.Gly1003=) c.2757A>C (p.Gly919=) c.2520A>C (p.Gly840=) c.1665A>C (p.Gly555=)
1	g.53247028C>A	CA340399493	LRP8	c.2882G>T (p.Gly961Val) c.2372G>T (p.Gly791Val) c.2516G>T (p.Gly839Val) c.1047G>T (n.1047G>T) c.420G>T c.2417G>T (p.Gly806Val) c.1603G>T n.2342G>T c.384G>T (n.384G>T) c.2012G>T (p.Gly671Val) c.726G>T c.2363G>T (p.Gly788Val) c.2117G>T (p.Gly706Val) n.2210G>T c.2101G>T (n.2101G>T) c.2495G>T (p.Gly832Val) c.2189G>T (p.Gly730Val) c.644G>T c.2677-1047G>T (n.2677-1047G>T) c.2289G>T c.2657G>T (p.Gly886Val) n.2595G>T n.9346G>T c.2093G>T (p.Gly698Val) c.2705G>T (p.Gly902Val) c.1364G>T (p.Gly455Val) c.1824G>T (n.1824G>T) c.355G>T c.2090G>T (p.Gly697Val) c.2921G>T (p.Gly974Val) c.2534G>T (p.Gly845Val) c.2744G>T (p.Gly915Val) c.2696G>T (p.Gly899Val) c.2795G>T (p.Gly932Val) c.2405G>T (p.Gly802Val) c.3008G>T (p.Gly1003Val) c.2756G>T (p.Gly919Val) c.2519G>T (p.Gly840Val) c.1664G>T (p.Gly555Val)
1	g.53247028C>G	CA340399495	LRP8	c.2882G>C (p.Gly961Ala) c.2372G>C (p.Gly791Ala) c.2516G>C (p.Gly839Ala) c.1047G>C (n.1047G>C) c.420G>C c.2417G>C (p.Gly806Ala) c.1603G>C n.2342G>C c.384G>C (n.384G>C) c.2012G>C (p.Gly671Ala) c.726G>C c.2363G>C (p.Gly788Ala) c.2117G>C (p.Gly706Ala) n.2210G>C c.2101G>C (n.2101G>C) c.2495G>C (p.Gly832Ala) c.2189G>C (p.Gly730Ala) c.644G>C c.2677-1047G>C (n.2677-1047G>C) c.2289G>C c.2657G>C (p.Gly886Ala) n.2595G>C n.9346G>C c.2093G>C (p.Gly698Ala) c.2705G>C (p.Gly902Ala) c.1364G>C (p.Gly455Ala) c.1824G>C (n.1824G>C) c.355G>C c.2090G>C (p.Gly697Ala) c.2921G>C (p.Gly974Ala) c.2534G>C (p.Gly845Ala) c.2744G>C (p.Gly915Ala) c.2696G>C (p.Gly899Ala) c.2795G>C (p.Gly932Ala) c.2405G>C (p.Gly802Ala) c.3008G>C (p.Gly1003Ala) c.2756G>C (p.Gly919Ala) c.2519G>C (p.Gly840Ala) c.1664G>C (p.Gly555Ala)
1	g.53247028C>T	CA340399497	LRP8	c.2882G>A (p.Gly961Glu) c.2372G>A (p.Gly791Glu) c.2516G>A (p.Gly839Glu) c.1047G>A (n.1047G>A) c.420G>A c.2417G>A (p.Gly806Glu) c.1603G>A n.2342G>A c.384G>A (n.384G>A) c.2012G>A (p.Gly671Glu) c.726G>A c.2363G>A (p.Gly788Glu) c.2117G>A (p.Gly706Glu) n.2210G>A c.2101G>A (n.2101G>A) c.2495G>A (p.Gly832Glu) c.2189G>A (p.Gly730Glu) c.644G>A c.2677-1047G>A (n.2677-1047G>A) c.2289G>A c.2657G>A (p.Gly886Glu) n.2595G>A n.9346G>A c.2093G>A (p.Gly698Glu) c.2705G>A (p.Gly902Glu) c.1364G>A (p.Gly455Glu) c.1824G>A (n.1824G>A) c.355G>A c.2090G>A (p.Gly697Glu) c.2921G>A (p.Gly974Glu) c.2534G>A (p.Gly845Glu) c.2744G>A (p.Gly915Glu) c.2696G>A (p.Gly899Glu) c.2795G>A (p.Gly932Glu) c.2405G>A (p.Gly802Glu) c.3008G>A (p.Gly1003Glu) c.2756G>A (p.Gly919Glu) c.2519G>A (p.Gly840Glu) c.1664G>A (p.Gly555Glu)	gnomAD v4
1	g.53247029del	CA2645717403	LRP8	c.2882del (p.Gly961AspfsTer29) c.2372del (p.Gly791AspfsTer?) c.2516del (p.Gly839AspfsTer29) c.1047del (n.1047del) c.420del c.2417del (p.Gly806AspfsTer29) c.1603del n.2342del c.384del (n.384del) c.2012del (p.Gly671AspfsTer29) c.726del c.2363del (p.Gly788AspfsTer29) c.2117del (p.Gly706AspfsTer29) n.2210del c.2101del (n.2101del) c.2495del (p.Gly832AspfsTer29) c.2189del (p.Gly730AspfsTer29) c.644del c.2677-1047del (n.2677-1047del) c.2289del c.2657del (p.Gly886AspfsTer29) n.2595del n.9346del c.2093del (p.Gly698AspfsTer29) c.2705del (p.Gly902AspfsTer29) c.1364del (p.Gly455AspfsTer29) c.1824del (n.1824del) c.355del c.2090del (p.Gly697AspfsTer29) c.2372del (p.Gly791AspfsTer29) c.2921del (p.Gly974AspfsTer29) c.2534del (p.Gly845AspfsTer29) c.2744del (p.Gly915AspfsTer29) c.2696del (p.Gly899AspfsTer29) c.2795del (p.Gly932AspfsTer29) c.2405del (p.Gly802AspfsTer29) c.3008del (p.Gly1003AspfsTer29) c.2756del (p.Gly919AspfsTer29) c.2519del (p.Gly840AspfsTer29) c.1664del (p.Gly555AspfsTer29)	gnomAD v4
1	g.53247029C>A	CA340399499	LRP8	c.2881G>T (p.Gly961Ter) c.2371G>T (p.Gly791Ter) c.2515G>T (p.Gly839Ter) c.1046G>T (n.1046G>T) c.419G>T c.2416G>T (p.Gly806Ter) c.1602G>T n.2341G>T c.383G>T (n.383G>T) c.2011G>T (p.Gly671Ter) c.725G>T c.2362G>T (p.Gly788Ter) c.2116G>T (p.Gly706Ter) n.2209G>T c.2100G>T (n.2100G>T) c.2494G>T (p.Gly832Ter) c.2188G>T (p.Gly730Ter) c.643G>T c.2677-1048G>T (n.2677-1048G>T) c.2288G>T c.2656G>T (p.Gly886Ter) n.2594G>T n.9345G>T c.2092G>T (p.Gly698Ter) c.2704G>T (p.Gly902Ter) c.1363G>T (p.Gly455Ter) c.1823G>T (n.1823G>T) c.354G>T c.2089G>T (p.Gly697Ter) c.2920G>T (p.Gly974Ter) c.2533G>T (p.Gly845Ter) c.2743G>T (p.Gly915Ter) c.2695G>T (p.Gly899Ter) c.2794G>T (p.Gly932Ter) c.2404G>T (p.Gly802Ter) c.3007G>T (p.Gly1003Ter) c.2755G>T (p.Gly919Ter) c.2518G>T (p.Gly840Ter) c.1663G>T (p.Gly555Ter)
1	g.53247029C>G	CA340399501	LRP8	c.2881G>C (p.Gly961Arg) c.2371G>C (p.Gly791Arg) c.2515G>C (p.Gly839Arg) c.1046G>C (n.1046G>C) c.419G>C c.2416G>C (p.Gly806Arg) c.1602G>C n.2341G>C c.383G>C (n.383G>C) c.2011G>C (p.Gly671Arg) c.725G>C c.2362G>C (p.Gly788Arg) c.2116G>C (p.Gly706Arg) n.2209G>C c.2100G>C (n.2100G>C) c.2494G>C (p.Gly832Arg) c.2188G>C (p.Gly730Arg) c.643G>C c.2677-1048G>C (n.2677-1048G>C) c.2288G>C c.2656G>C (p.Gly886Arg) n.2594G>C n.9345G>C c.2092G>C (p.Gly698Arg) c.2704G>C (p.Gly902Arg) c.1363G>C (p.Gly455Arg) c.1823G>C (n.1823G>C) c.354G>C c.2089G>C (p.Gly697Arg) c.2920G>C (p.Gly974Arg) c.2533G>C (p.Gly845Arg) c.2743G>C (p.Gly915Arg) c.2695G>C (p.Gly899Arg) c.2794G>C (p.Gly932Arg) c.2404G>C (p.Gly802Arg) c.3007G>C (p.Gly1003Arg) c.2755G>C (p.Gly919Arg) c.2518G>C (p.Gly840Arg) c.1663G>C (p.Gly555Arg)
1	g.53247029C>T	CA340399503	LRP8	c.2881G>A (p.Gly961Arg) c.2371G>A (p.Gly791Arg) c.2515G>A (p.Gly839Arg) c.1046G>A (n.1046G>A) c.419G>A c.2416G>A (p.Gly806Arg) c.1602G>A n.2341G>A c.383G>A (n.383G>A) c.2011G>A (p.Gly671Arg) c.725G>A c.2362G>A (p.Gly788Arg) c.2116G>A (p.Gly706Arg) n.2209G>A c.2100G>A (n.2100G>A) c.2494G>A (p.Gly832Arg) c.2188G>A (p.Gly730Arg) c.643G>A c.2677-1048G>A (n.2677-1048G>A) c.2288G>A c.2656G>A (p.Gly886Arg) n.2594G>A n.9345G>A c.2092G>A (p.Gly698Arg) c.2704G>A (p.Gly902Arg) c.1363G>A (p.Gly455Arg) c.1823G>A (n.1823G>A) c.354G>A c.2089G>A (p.Gly697Arg) c.2920G>A (p.Gly974Arg) c.2533G>A (p.Gly845Arg) c.2743G>A (p.Gly915Arg) c.2695G>A (p.Gly899Arg) c.2794G>A (p.Gly932Arg) c.2404G>A (p.Gly802Arg) c.3007G>A (p.Gly1003Arg) c.2755G>A (p.Gly919Arg) c.2518G>A (p.Gly840Arg) c.1663G>A (p.Gly555Arg)
1	g.53247030A=	CA1167228774	LRP8	c.2880T= (p.Asp960=) c.2370T= (p.Asp790=) c.2514T= (p.Asp838=) c.1045T= (n.1045T=) c.418T= c.2415T= (p.Asp805=) c.1601T= n.2340T= c.382T= (n.382T=) c.2010T= (p.Asp670=) c.724T= c.2361T= (p.Asp787=) c.2115T= (p.Asp705=) n.2208T= c.2099T= (n.2099T=) c.2493T= (p.Asp831=) c.2187T= (p.Asp729=) c.642T= c.2677-1049T= (n.2677-1049T=) c.2287T= c.2655T= (p.Asp885=) n.2593T= n.9344T= c.2091T= (p.Asp697=) c.2703T= (p.Asp901=) c.1362T= (p.Asp454=) c.1822T= (n.1822T=) c.353T= c.2088T= (p.Asp696=) c.2919T= (p.Asp973=) c.2532T= (p.Asp844=) c.2742T= (p.Asp914=) c.2694T= (p.Asp898=) c.2793T= (p.Asp931=) c.2403T= (p.Asp801=) c.3006T= (p.Asp1002=) c.2754T= (p.Asp918=) c.2517T= (p.Asp839=) c.1662T= (p.Asp554=)
1	g.53247030A>C	CA340399506	LRP8	c.2880T>G (p.Asp960Glu) c.2370T>G (p.Asp790Glu) c.2514T>G (p.Asp838Glu) c.1045T>G (n.1045T>G) c.418T>G c.2415T>G (p.Asp805Glu) c.1601T>G n.2340T>G c.382T>G (n.382T>G) c.2010T>G (p.Asp670Glu) c.724T>G c.2361T>G (p.Asp787Glu) c.2115T>G (p.Asp705Glu) n.2208T>G c.2099T>G (n.2099T>G) c.2493T>G (p.Asp831Glu) c.2187T>G (p.Asp729Glu) c.642T>G c.2677-1049T>G (n.2677-1049T>G) c.2287T>G c.2655T>G (p.Asp885Glu) n.2593T>G n.9344T>G c.2091T>G (p.Asp697Glu) c.2703T>G (p.Asp901Glu) c.1362T>G (p.Asp454Glu) c.1822T>G (n.1822T>G) c.353T>G c.2088T>G (p.Asp696Glu) c.2919T>G (p.Asp973Glu) c.2532T>G (p.Asp844Glu) c.2742T>G (p.Asp914Glu) c.2694T>G (p.Asp898Glu) c.2793T>G (p.Asp931Glu) c.2403T>G (p.Asp801Glu) c.3006T>G (p.Asp1002Glu) c.2754T>G (p.Asp918Glu) c.2517T>G (p.Asp839Glu) c.1662T>G (p.Asp554Glu)
1	g.53247030A>G	CA859823	LRP8	c.2880T>C (p.Asp960=) c.2370T>C (p.Asp790=) c.2514T>C (p.Asp838=) c.1045T>C (n.1045T>C) c.418T>C c.2415T>C (p.Asp805=) c.1601T>C n.2340T>C c.382T>C (n.382T>C) c.2010T>C (p.Asp670=) c.724T>C c.2361T>C (p.Asp787=) c.2115T>C (p.Asp705=) n.2208T>C c.2099T>C (n.2099T>C) c.2493T>C (p.Asp831=) c.2187T>C (p.Asp729=) c.642T>C c.2677-1049T>C (n.2677-1049T>C) c.2287T>C c.2655T>C (p.Asp885=) n.2593T>C n.9344T>C c.2091T>C (p.Asp697=) c.2703T>C (p.Asp901=) c.1362T>C (p.Asp454=) c.1822T>C (n.1822T>C) c.353T>C c.2088T>C (p.Asp696=) c.2919T>C (p.Asp973=) c.2532T>C (p.Asp844=) c.2742T>C (p.Asp914=) c.2694T>C (p.Asp898=) c.2793T>C (p.Asp931=) c.2403T>C (p.Asp801=) c.3006T>C (p.Asp1002=) c.2754T>C (p.Asp918=) c.2517T>C (p.Asp839=) c.1662T>C (p.Asp554=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53247030A>T	CA340399509	LRP8	c.2880T>A (p.Asp960Glu) c.2370T>A (p.Asp790Glu) c.2514T>A (p.Asp838Glu) c.1045T>A (n.1045T>A) c.418T>A c.2415T>A (p.Asp805Glu) c.1601T>A n.2340T>A c.382T>A (n.382T>A) c.2010T>A (p.Asp670Glu) c.724T>A c.2361T>A (p.Asp787Glu) c.2115T>A (p.Asp705Glu) n.2208T>A c.2099T>A (n.2099T>A) c.2493T>A (p.Asp831Glu) c.2187T>A (p.Asp729Glu) c.642T>A c.2677-1049T>A (n.2677-1049T>A) c.2287T>A c.2655T>A (p.Asp885Glu) n.2593T>A n.9344T>A c.2091T>A (p.Asp697Glu) c.2703T>A (p.Asp901Glu) c.1362T>A (p.Asp454Glu) c.1822T>A (n.1822T>A) c.353T>A c.2088T>A (p.Asp696Glu) c.2919T>A (p.Asp973Glu) c.2532T>A (p.Asp844Glu) c.2742T>A (p.Asp914Glu) c.2694T>A (p.Asp898Glu) c.2793T>A (p.Asp931Glu) c.2403T>A (p.Asp801Glu) c.3006T>A (p.Asp1002Glu) c.2754T>A (p.Asp918Glu) c.2517T>A (p.Asp839Glu) c.1662T>A (p.Asp554Glu)	dbSNP
1	g.53247031T>A	CA340399517	LRP8	c.2879A>T (p.Asp960Val) c.2369A>T (p.Asp790Val) c.2513A>T (p.Asp838Val) c.1044A>T (n.1044A>T) c.417A>T c.2414A>T (p.Asp805Val) c.1600A>T n.2339A>T c.381A>T (n.381A>T) c.2009A>T (p.Asp670Val) c.723A>T c.2360A>T (p.Asp787Val) c.2114A>T (p.Asp705Val) n.2207A>T c.2098A>T (n.2098A>T) c.2492A>T (p.Asp831Val) c.2186A>T (p.Asp729Val) c.641A>T c.2677-1050A>T (n.2677-1050A>T) c.2286A>T c.2654A>T (p.Asp885Val) n.2592A>T n.9343A>T c.2090A>T (p.Asp697Val) c.2702A>T (p.Asp901Val) c.1361A>T (p.Asp454Val) c.1821A>T (n.1821A>T) c.352A>T c.2087A>T (p.Asp696Val) c.2918A>T (p.Asp973Val) c.2531A>T (p.Asp844Val) c.2741A>T (p.Asp914Val) c.2693A>T (p.Asp898Val) c.2792A>T (p.Asp931Val) c.2402A>T (p.Asp801Val) c.3005A>T (p.Asp1002Val) c.2753A>T (p.Asp918Val) c.2516A>T (p.Asp839Val) c.1661A>T (p.Asp554Val)
1	g.53247031T>C	CA340399515	LRP8	c.2879A>G (p.Asp960Gly) c.2369A>G (p.Asp790Gly) c.2513A>G (p.Asp838Gly) c.1044A>G (n.1044A>G) c.417A>G c.2414A>G (p.Asp805Gly) c.1600A>G n.2339A>G c.381A>G (n.381A>G) c.2009A>G (p.Asp670Gly) c.723A>G c.2360A>G (p.Asp787Gly) c.2114A>G (p.Asp705Gly) n.2207A>G c.2098A>G (n.2098A>G) c.2492A>G (p.Asp831Gly) c.2186A>G (p.Asp729Gly) c.641A>G c.2677-1050A>G (n.2677-1050A>G) c.2286A>G c.2654A>G (p.Asp885Gly) n.2592A>G n.9343A>G c.2090A>G (p.Asp697Gly) c.2702A>G (p.Asp901Gly) c.1361A>G (p.Asp454Gly) c.1821A>G (n.1821A>G) c.352A>G c.2087A>G (p.Asp696Gly) c.2918A>G (p.Asp973Gly) c.2531A>G (p.Asp844Gly) c.2741A>G (p.Asp914Gly) c.2693A>G (p.Asp898Gly) c.2792A>G (p.Asp931Gly) c.2402A>G (p.Asp801Gly) c.3005A>G (p.Asp1002Gly) c.2753A>G (p.Asp918Gly) c.2516A>G (p.Asp839Gly) c.1661A>G (p.Asp554Gly)
1	g.53247031T>G	CA340399513	LRP8	c.2879A>C (p.Asp960Ala) c.2369A>C (p.Asp790Ala) c.2513A>C (p.Asp838Ala) c.1044A>C (n.1044A>C) c.417A>C c.2414A>C (p.Asp805Ala) c.1600A>C n.2339A>C c.381A>C (n.381A>C) c.2009A>C (p.Asp670Ala) c.723A>C c.2360A>C (p.Asp787Ala) c.2114A>C (p.Asp705Ala) n.2207A>C c.2098A>C (n.2098A>C) c.2492A>C (p.Asp831Ala) c.2186A>C (p.Asp729Ala) c.641A>C c.2677-1050A>C (n.2677-1050A>C) c.2286A>C c.2654A>C (p.Asp885Ala) n.2592A>C n.9343A>C c.2090A>C (p.Asp697Ala) c.2702A>C (p.Asp901Ala) c.1361A>C (p.Asp454Ala) c.1821A>C (n.1821A>C) c.352A>C c.2087A>C (p.Asp696Ala) c.2918A>C (p.Asp973Ala) c.2531A>C (p.Asp844Ala) c.2741A>C (p.Asp914Ala) c.2693A>C (p.Asp898Ala) c.2792A>C (p.Asp931Ala) c.2402A>C (p.Asp801Ala) c.3005A>C (p.Asp1002Ala) c.2753A>C (p.Asp918Ala) c.2516A>C (p.Asp839Ala) c.1661A>C (p.Asp554Ala)
1	g.53247031dup	CA2645717404	LRP8	c.2879dup (p.Asp960GlufsTer28) c.2369dup (p.Asp790GlufsTer?) c.2513dup (p.Asp838GlufsTer28) c.1044dup (n.1044dup) c.417dup c.2414dup (p.Asp805GlufsTer28) c.1600dup n.2339dup c.381dup (n.381dup) c.2009dup (p.Asp670GlufsTer28) c.723dup c.2360dup (p.Asp787GlufsTer28) c.2114dup (p.Asp705GlufsTer28) n.2207dup c.2098dup (n.2098dup) c.2492dup (p.Asp831GlufsTer28) c.2186dup (p.Asp729GlufsTer28) c.641dup c.2677-1050dup (n.2677-1050dup) c.2286dup c.2654dup (p.Asp885GlufsTer28) n.2592dup n.9343dup c.2090dup (p.Asp697GlufsTer28) c.2702dup (p.Asp901GlufsTer28) c.1361dup (p.Asp454GlufsTer28) c.1821dup (n.1821dup) c.352dup c.2087dup (p.Asp696GlufsTer28) c.2369dup (p.Asp790GlufsTer28) c.2918dup (p.Asp973GlufsTer28) c.2531dup (p.Asp844GlufsTer28) c.2741dup (p.Asp914GlufsTer28) c.2693dup (p.Asp898GlufsTer28) c.2792dup (p.Asp931GlufsTer28) c.2402dup (p.Asp801GlufsTer28) c.3005dup (p.Asp1002GlufsTer28) c.2753dup (p.Asp918GlufsTer28) c.2516dup (p.Asp839GlufsTer28) c.1661dup (p.Asp554GlufsTer28)	gnomAD v4
1	g.53247032C>A	CA340399519	LRP8	c.2878G>T (p.Asp960Tyr) c.2368G>T (p.Asp790Tyr) c.2512G>T (p.Asp838Tyr) c.1043G>T (n.1043G>T) c.416G>T c.2413G>T (p.Asp805Tyr) c.1599G>T n.2338G>T c.380G>T (n.380G>T) c.2008G>T (p.Asp670Tyr) c.722G>T c.2359G>T (p.Asp787Tyr) c.2113G>T (p.Asp705Tyr) n.2206G>T c.2097G>T (n.2097G>T) c.2491G>T (p.Asp831Tyr) c.2185G>T (p.Asp729Tyr) c.640G>T c.2677-1051G>T (n.2677-1051G>T) c.2285G>T c.2653G>T (p.Asp885Tyr) n.2591G>T n.9342G>T c.2089G>T (p.Asp697Tyr) c.2701G>T (p.Asp901Tyr) c.1360G>T (p.Asp454Tyr) c.1820G>T (n.1820G>T) c.351G>T c.2086G>T (p.Asp696Tyr) c.2917G>T (p.Asp973Tyr) c.2530G>T (p.Asp844Tyr) c.2740G>T (p.Asp914Tyr) c.2692G>T (p.Asp898Tyr) c.2791G>T (p.Asp931Tyr) c.2401G>T (p.Asp801Tyr) c.3004G>T (p.Asp1002Tyr) c.2752G>T (p.Asp918Tyr) c.2515G>T (p.Asp839Tyr) c.1660G>T (p.Asp554Tyr)
1	g.53247032C=	CA1167228775	LRP8	c.2878G= (p.Asp960=) c.2368G= (p.Asp790=) c.2512G= (p.Asp838=) c.1043G= (n.1043G=) c.416G= c.2413G= (p.Asp805=) c.1599G= n.2338G= c.380G= (n.380G=) c.2008G= (p.Asp670=) c.722G= c.2359G= (p.Asp787=) c.2113G= (p.Asp705=) n.2206G= c.2097G= (n.2097G=) c.2491G= (p.Asp831=) c.2185G= (p.Asp729=) c.640G= c.2677-1051G= (n.2677-1051G=) c.2285G= c.2653G= (p.Asp885=) n.2591G= n.9342G= c.2089G= (p.Asp697=) c.2701G= (p.Asp901=) c.1360G= (p.Asp454=) c.1820G= (n.1820G=) c.351G= c.2086G= (p.Asp696=) c.2917G= (p.Asp973=) c.2530G= (p.Asp844=) c.2740G= (p.Asp914=) c.2692G= (p.Asp898=) c.2791G= (p.Asp931=) c.2401G= (p.Asp801=) c.3004G= (p.Asp1002=) c.2752G= (p.Asp918=) c.2515G= (p.Asp839=) c.1660G= (p.Asp554=)
1	g.53247032C>G	CA340399521	LRP8	c.2878G>C (p.Asp960His) c.2368G>C (p.Asp790His) c.2512G>C (p.Asp838His) c.1043G>C (n.1043G>C) c.416G>C c.2413G>C (p.Asp805His) c.1599G>C n.2338G>C c.380G>C (n.380G>C) c.2008G>C (p.Asp670His) c.722G>C c.2359G>C (p.Asp787His) c.2113G>C (p.Asp705His) n.2206G>C c.2097G>C (n.2097G>C) c.2491G>C (p.Asp831His) c.2185G>C (p.Asp729His) c.640G>C c.2677-1051G>C (n.2677-1051G>C) c.2285G>C c.2653G>C (p.Asp885His) n.2591G>C n.9342G>C c.2089G>C (p.Asp697His) c.2701G>C (p.Asp901His) c.1360G>C (p.Asp454His) c.1820G>C (n.1820G>C) c.351G>C c.2086G>C (p.Asp696His) c.2917G>C (p.Asp973His) c.2530G>C (p.Asp844His) c.2740G>C (p.Asp914His) c.2692G>C (p.Asp898His) c.2791G>C (p.Asp931His) c.2401G>C (p.Asp801His) c.3004G>C (p.Asp1002His) c.2752G>C (p.Asp918His) c.2515G>C (p.Asp839His) c.1660G>C (p.Asp554His)
1	g.53247032C>T	CA859824	LRP8	c.2878G>A (p.Asp960Asn) c.2368G>A (p.Asp790Asn) c.2512G>A (p.Asp838Asn) c.1043G>A (n.1043G>A) c.416G>A c.2413G>A (p.Asp805Asn) c.1599G>A n.2338G>A c.380G>A (n.380G>A) c.2008G>A (p.Asp670Asn) c.722G>A c.2359G>A (p.Asp787Asn) c.2113G>A (p.Asp705Asn) n.2206G>A c.2097G>A (n.2097G>A) c.2491G>A (p.Asp831Asn) c.2185G>A (p.Asp729Asn) c.640G>A c.2677-1051G>A (n.2677-1051G>A) c.2285G>A c.2653G>A (p.Asp885Asn) n.2591G>A n.9342G>A c.2089G>A (p.Asp697Asn) c.2701G>A (p.Asp901Asn) c.1360G>A (p.Asp454Asn) c.1820G>A (n.1820G>A) c.351G>A c.2086G>A (p.Asp696Asn) c.2917G>A (p.Asp973Asn) c.2530G>A (p.Asp844Asn) c.2740G>A (p.Asp914Asn) c.2692G>A (p.Asp898Asn) c.2791G>A (p.Asp931Asn) c.2401G>A (p.Asp801Asn) c.3004G>A (p.Asp1002Asn) c.2752G>A (p.Asp918Asn) c.2515G>A (p.Asp839Asn) c.1660G>A (p.Asp554Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53247033A>C	CA340399523	LRP8	c.2877T>G (p.Asp959Glu) c.2367T>G (p.Asp789Glu) c.2511T>G (p.Asp837Glu) c.1042T>G (n.1042T>G) c.415T>G c.2412T>G (p.Asp804Glu) c.1598T>G n.2337T>G c.379T>G (n.379T>G) c.2007T>G (p.Asp669Glu) c.721T>G c.2358T>G (p.Asp786Glu) c.2112T>G (p.Asp704Glu) n.2205T>G c.2096T>G (n.2096T>G) c.2490T>G (p.Asp830Glu) c.2184T>G (p.Asp728Glu) c.639T>G c.2677-1052T>G (n.2677-1052T>G) c.2284T>G c.2652T>G (p.Asp884Glu) n.2590T>G n.9341T>G c.2088T>G (p.Asp696Glu) c.2700T>G (p.Asp900Glu) c.1359T>G (p.Asp453Glu) c.1819T>G (n.1819T>G) c.350T>G c.2085T>G (p.Asp695Glu) c.2916T>G (p.Asp972Glu) c.2529T>G (p.Asp843Glu) c.2739T>G (p.Asp913Glu) c.2691T>G (p.Asp897Glu) c.2790T>G (p.Asp930Glu) c.2400T>G (p.Asp800Glu) c.3003T>G (p.Asp1001Glu) c.2751T>G (p.Asp917Glu) c.2514T>G (p.Asp838Glu) c.1659T>G (p.Asp553Glu)
1	g.53247033A>G	CA417902704	LRP8	c.2877T>C (p.Asp959=) c.2367T>C (p.Asp789=) c.2511T>C (p.Asp837=) c.1042T>C (n.1042T>C) c.415T>C c.2412T>C (p.Asp804=) c.1598T>C n.2337T>C c.379T>C (n.379T>C) c.2007T>C (p.Asp669=) c.721T>C c.2358T>C (p.Asp786=) c.2112T>C (p.Asp704=) n.2205T>C c.2096T>C (n.2096T>C) c.2490T>C (p.Asp830=) c.2184T>C (p.Asp728=) c.639T>C c.2677-1052T>C (n.2677-1052T>C) c.2284T>C c.2652T>C (p.Asp884=) n.2590T>C n.9341T>C c.2088T>C (p.Asp696=) c.2700T>C (p.Asp900=) c.1359T>C (p.Asp453=) c.1819T>C (n.1819T>C) c.350T>C c.2085T>C (p.Asp695=) c.2916T>C (p.Asp972=) c.2529T>C (p.Asp843=) c.2739T>C (p.Asp913=) c.2691T>C (p.Asp897=) c.2790T>C (p.Asp930=) c.2400T>C (p.Asp800=) c.3003T>C (p.Asp1001=) c.2751T>C (p.Asp917=) c.2514T>C (p.Asp838=) c.1659T>C (p.Asp553=)
1	g.53247033A>T	CA340399524	LRP8	c.2877T>A (p.Asp959Glu) c.2367T>A (p.Asp789Glu) c.2511T>A (p.Asp837Glu) c.1042T>A (n.1042T>A) c.415T>A c.2412T>A (p.Asp804Glu) c.1598T>A n.2337T>A c.379T>A (n.379T>A) c.2007T>A (p.Asp669Glu) c.721T>A c.2358T>A (p.Asp786Glu) c.2112T>A (p.Asp704Glu) n.2205T>A c.2096T>A (n.2096T>A) c.2490T>A (p.Asp830Glu) c.2184T>A (p.Asp728Glu) c.639T>A c.2677-1052T>A (n.2677-1052T>A) c.2284T>A c.2652T>A (p.Asp884Glu) n.2590T>A n.9341T>A c.2088T>A (p.Asp696Glu) c.2700T>A (p.Asp900Glu) c.1359T>A (p.Asp453Glu) c.1819T>A (n.1819T>A) c.350T>A c.2085T>A (p.Asp695Glu) c.2916T>A (p.Asp972Glu) c.2529T>A (p.Asp843Glu) c.2739T>A (p.Asp913Glu) c.2691T>A (p.Asp897Glu) c.2790T>A (p.Asp930Glu) c.2400T>A (p.Asp800Glu) c.3003T>A (p.Asp1001Glu) c.2751T>A (p.Asp917Glu) c.2514T>A (p.Asp838Glu) c.1659T>A (p.Asp553Glu)
1	g.53247034T>A	CA340399528	LRP8	c.2876A>T (p.Asp959Val) c.2366A>T (p.Asp789Val) c.2510A>T (p.Asp837Val) c.1041A>T (n.1041A>T) c.414A>T c.2411A>T (p.Asp804Val) c.1597A>T n.2336A>T c.378A>T (n.378A>T) c.2006A>T (p.Asp669Val) c.720A>T c.2357A>T (p.Asp786Val) c.2111A>T (p.Asp704Val) n.2204A>T c.2095A>T (n.2095A>T) c.2489A>T (p.Asp830Val) c.2183A>T (p.Asp728Val) c.638A>T c.2677-1053A>T (n.2677-1053A>T) c.2283A>T c.2651A>T (p.Asp884Val) n.2589A>T n.9340A>T c.2087A>T (p.Asp696Val) c.2699A>T (p.Asp900Val) c.1358A>T (p.Asp453Val) c.1818A>T (n.1818A>T) c.349A>T c.2084A>T (p.Asp695Val) c.2915A>T (p.Asp972Val) c.2528A>T (p.Asp843Val) c.2738A>T (p.Asp913Val) c.2690A>T (p.Asp897Val) c.2789A>T (p.Asp930Val) c.2399A>T (p.Asp800Val) c.3002A>T (p.Asp1001Val) c.2750A>T (p.Asp917Val) c.2513A>T (p.Asp838Val) c.1658A>T (p.Asp553Val)
1	g.53247034T>C	CA340399531	LRP8	c.2876A>G (p.Asp959Gly) c.2366A>G (p.Asp789Gly) c.2510A>G (p.Asp837Gly) c.1041A>G (n.1041A>G) c.414A>G c.2411A>G (p.Asp804Gly) c.1597A>G n.2336A>G c.378A>G (n.378A>G) c.2006A>G (p.Asp669Gly) c.720A>G c.2357A>G (p.Asp786Gly) c.2111A>G (p.Asp704Gly) n.2204A>G c.2095A>G (n.2095A>G) c.2489A>G (p.Asp830Gly) c.2183A>G (p.Asp728Gly) c.638A>G c.2677-1053A>G (n.2677-1053A>G) c.2283A>G c.2651A>G (p.Asp884Gly) n.2589A>G n.9340A>G c.2087A>G (p.Asp696Gly) c.2699A>G (p.Asp900Gly) c.1358A>G (p.Asp453Gly) c.1818A>G (n.1818A>G) c.349A>G c.2084A>G (p.Asp695Gly) c.2915A>G (p.Asp972Gly) c.2528A>G (p.Asp843Gly) c.2738A>G (p.Asp913Gly) c.2690A>G (p.Asp897Gly) c.2789A>G (p.Asp930Gly) c.2399A>G (p.Asp800Gly) c.3002A>G (p.Asp1001Gly) c.2750A>G (p.Asp917Gly) c.2513A>G (p.Asp838Gly) c.1658A>G (p.Asp553Gly)
1	g.53247034T>G	CA340399529	LRP8	c.2876A>C (p.Asp959Ala) c.2366A>C (p.Asp789Ala) c.2510A>C (p.Asp837Ala) c.1041A>C (n.1041A>C) c.414A>C c.2411A>C (p.Asp804Ala) c.1597A>C n.2336A>C c.378A>C (n.378A>C) c.2006A>C (p.Asp669Ala) c.720A>C c.2357A>C (p.Asp786Ala) c.2111A>C (p.Asp704Ala) n.2204A>C c.2095A>C (n.2095A>C) c.2489A>C (p.Asp830Ala) c.2183A>C (p.Asp728Ala) c.638A>C c.2677-1053A>C (n.2677-1053A>C) c.2283A>C c.2651A>C (p.Asp884Ala) n.2589A>C n.9340A>C c.2087A>C (p.Asp696Ala) c.2699A>C (p.Asp900Ala) c.1358A>C (p.Asp453Ala) c.1818A>C (n.1818A>C) c.349A>C c.2084A>C (p.Asp695Ala) c.2915A>C (p.Asp972Ala) c.2528A>C (p.Asp843Ala) c.2738A>C (p.Asp913Ala) c.2690A>C (p.Asp897Ala) c.2789A>C (p.Asp930Ala) c.2399A>C (p.Asp800Ala) c.3002A>C (p.Asp1001Ala) c.2750A>C (p.Asp917Ala) c.2513A>C (p.Asp838Ala) c.1658A>C (p.Asp553Ala)
1	g.53247035del	CA417902705	LRP8	c.2875del (p.Asp959MetfsTer?) c.2365del (p.Asp789MetfsTer?) c.2509del (p.Asp837MetfsTer?) c.1040del (n.1040del) c.413del c.2410del (p.Asp804MetfsTer?) c.1596del n.2335del c.377del (n.377del) c.2005del (p.Asp669MetfsTer?) c.719del c.2356del (p.Asp786MetfsTer?) c.2110del (p.Asp704MetfsTer?) n.2203del c.2094del (n.2094del) c.2488del (p.Asp830MetfsTer?) c.2182del (p.Asp728MetfsTer?) c.637del c.2677-1054del (n.2677-1054del) c.2282del c.2650del (p.Asp884MetfsTer?) n.2588del n.9339del c.2086del (p.Asp696MetfsTer?) c.2698del (p.Asp900MetfsTer?) c.1357del (p.Asp453MetfsTer?) c.1817del (n.1817del) c.348del c.2083del (p.Asp695MetfsTer?) c.2914del (p.Asp972MetfsTer?) c.2527del (p.Asp843MetfsTer?) c.2737del (p.Asp913MetfsTer?) c.2689del (p.Asp897MetfsTer?) c.2788del (p.Asp930MetfsTer?) c.2398del (p.Asp800MetfsTer?) c.3001del (p.Asp1001MetfsTer?) c.2749del (p.Asp917MetfsTer?) c.2512del (p.Asp838MetfsTer?) c.1657del (p.Asp553MetfsTer?)
1	g.53247035C>A	CA340399534	LRP8	c.2875G>T (p.Asp959Tyr) c.2365G>T (p.Asp789Tyr) c.2509G>T (p.Asp837Tyr) c.1040G>T (n.1040G>T) c.413G>T c.2410G>T (p.Asp804Tyr) c.1596G>T n.2335G>T c.377G>T (n.377G>T) c.2005G>T (p.Asp669Tyr) c.719G>T c.2356G>T (p.Asp786Tyr) c.2110G>T (p.Asp704Tyr) n.2203G>T c.2094G>T (n.2094G>T) c.2488G>T (p.Asp830Tyr) c.2182G>T (p.Asp728Tyr) c.637G>T c.2677-1054G>T (n.2677-1054G>T) c.2282G>T c.2650G>T (p.Asp884Tyr) n.2588G>T n.9339G>T c.2086G>T (p.Asp696Tyr) c.2698G>T (p.Asp900Tyr) c.1357G>T (p.Asp453Tyr) c.1817G>T (n.1817G>T) c.348G>T c.2083G>T (p.Asp695Tyr) c.2914G>T (p.Asp972Tyr) c.2527G>T (p.Asp843Tyr) c.2737G>T (p.Asp913Tyr) c.2689G>T (p.Asp897Tyr) c.2788G>T (p.Asp930Tyr) c.2398G>T (p.Asp800Tyr) c.3001G>T (p.Asp1001Tyr) c.2749G>T (p.Asp917Tyr) c.2512G>T (p.Asp838Tyr) c.1657G>T (p.Asp553Tyr)
1	g.53247035C>G	CA340399536	LRP8	c.2875G>C (p.Asp959His) c.2365G>C (p.Asp789His) c.2509G>C (p.Asp837His) c.1040G>C (n.1040G>C) c.413G>C c.2410G>C (p.Asp804His) c.1596G>C n.2335G>C c.377G>C (n.377G>C) c.2005G>C (p.Asp669His) c.719G>C c.2356G>C (p.Asp786His) c.2110G>C (p.Asp704His) n.2203G>C c.2094G>C (n.2094G>C) c.2488G>C (p.Asp830His) c.2182G>C (p.Asp728His) c.637G>C c.2677-1054G>C (n.2677-1054G>C) c.2282G>C c.2650G>C (p.Asp884His) n.2588G>C n.9339G>C c.2086G>C (p.Asp696His) c.2698G>C (p.Asp900His) c.1357G>C (p.Asp453His) c.1817G>C (n.1817G>C) c.348G>C c.2083G>C (p.Asp695His) c.2914G>C (p.Asp972His) c.2527G>C (p.Asp843His) c.2737G>C (p.Asp913His) c.2689G>C (p.Asp897His) c.2788G>C (p.Asp930His) c.2398G>C (p.Asp800His) c.3001G>C (p.Asp1001His) c.2749G>C (p.Asp917His) c.2512G>C (p.Asp838His) c.1657G>C (p.Asp553His)
1	g.53247035C>T	CA340399538	LRP8	c.2875G>A (p.Asp959Asn) c.2365G>A (p.Asp789Asn) c.2509G>A (p.Asp837Asn) c.1040G>A (n.1040G>A) c.413G>A c.2410G>A (p.Asp804Asn) c.1596G>A n.2335G>A c.377G>A (n.377G>A) c.2005G>A (p.Asp669Asn) c.719G>A c.2356G>A (p.Asp786Asn) c.2110G>A (p.Asp704Asn) n.2203G>A c.2094G>A (n.2094G>A) c.2488G>A (p.Asp830Asn) c.2182G>A (p.Asp728Asn) c.637G>A c.2677-1054G>A (n.2677-1054G>A) c.2282G>A c.2650G>A (p.Asp884Asn) n.2588G>A n.9339G>A c.2086G>A (p.Asp696Asn) c.2698G>A (p.Asp900Asn) c.1357G>A (p.Asp453Asn) c.1817G>A (n.1817G>A) c.348G>A c.2083G>A (p.Asp695Asn) c.2914G>A (p.Asp972Asn) c.2527G>A (p.Asp843Asn) c.2737G>A (p.Asp913Asn) c.2689G>A (p.Asp897Asn) c.2788G>A (p.Asp930Asn) c.2398G>A (p.Asp800Asn) c.3001G>A (p.Asp1001Asn) c.2749G>A (p.Asp917Asn) c.2512G>A (p.Asp838Asn) c.1657G>A (p.Asp553Asn)
1	g.53247036T>A	CA340399539	LRP8	c.2874A>T (p.Glu958Asp) c.2364A>T (p.Glu788Asp) c.2508A>T (p.Glu836Asp) c.1039A>T (n.1039A>T) c.412A>T c.2409A>T (p.Glu803Asp) c.1595A>T n.2334A>T c.376A>T (n.376A>T) c.2004A>T (p.Glu668Asp) c.718A>T c.2355A>T (p.Glu785Asp) c.2109A>T (p.Glu703Asp) n.2202A>T c.2093A>T (n.2093A>T) c.2487A>T (p.Glu829Asp) c.2181A>T (p.Glu727Asp) c.636A>T c.2677-1055A>T (n.2677-1055A>T) c.2281A>T c.2649A>T (p.Glu883Asp) n.2587A>T n.9338A>T c.2085A>T (p.Glu695Asp) c.2697A>T (p.Glu899Asp) c.1356A>T (p.Glu452Asp) c.1816A>T (n.1816A>T) c.347A>T c.2082A>T (p.Glu694Asp) c.2913A>T (p.Glu971Asp) c.2526A>T (p.Glu842Asp) c.2736A>T (p.Glu912Asp) c.2688A>T (p.Glu896Asp) c.2787A>T (p.Glu929Asp) c.2397A>T (p.Glu799Asp) c.3000A>T (p.Glu1000Asp) c.2748A>T (p.Glu916Asp) c.2511A>T (p.Glu837Asp) c.1656A>T (p.Glu552Asp)
1	g.53247036T>C	CA417902706	LRP8	c.2874A>G (p.Glu958=) c.2364A>G (p.Glu788=) c.2508A>G (p.Glu836=) c.1039A>G (n.1039A>G) c.412A>G c.2409A>G (p.Glu803=) c.1595A>G n.2334A>G c.376A>G (n.376A>G) c.2004A>G (p.Glu668=) c.718A>G c.2355A>G (p.Glu785=) c.2109A>G (p.Glu703=) n.2202A>G c.2093A>G (n.2093A>G) c.2487A>G (p.Glu829=) c.2181A>G (p.Glu727=) c.636A>G c.2677-1055A>G (n.2677-1055A>G) c.2281A>G c.2649A>G (p.Glu883=) n.2587A>G n.9338A>G c.2085A>G (p.Glu695=) c.2697A>G (p.Glu899=) c.1356A>G (p.Glu452=) c.1816A>G (n.1816A>G) c.347A>G c.2082A>G (p.Glu694=) c.2913A>G (p.Glu971=) c.2526A>G (p.Glu842=) c.2736A>G (p.Glu912=) c.2688A>G (p.Glu896=) c.2787A>G (p.Glu929=) c.2397A>G (p.Glu799=) c.3000A>G (p.Glu1000=) c.2748A>G (p.Glu916=) c.2511A>G (p.Glu837=) c.1656A>G (p.Glu552=)
1	g.53247036T>G	CA340399541	LRP8	c.2874A>C (p.Glu958Asp) c.2364A>C (p.Glu788Asp) c.2508A>C (p.Glu836Asp) c.1039A>C (n.1039A>C) c.412A>C c.2409A>C (p.Glu803Asp) c.1595A>C n.2334A>C c.376A>C (n.376A>C) c.2004A>C (p.Glu668Asp) c.718A>C c.2355A>C (p.Glu785Asp) c.2109A>C (p.Glu703Asp) n.2202A>C c.2093A>C (n.2093A>C) c.2487A>C (p.Glu829Asp) c.2181A>C (p.Glu727Asp) c.636A>C c.2677-1055A>C (n.2677-1055A>C) c.2281A>C c.2649A>C (p.Glu883Asp) n.2587A>C n.9338A>C c.2085A>C (p.Glu695Asp) c.2697A>C (p.Glu899Asp) c.1356A>C (p.Glu452Asp) c.1816A>C (n.1816A>C) c.347A>C c.2082A>C (p.Glu694Asp) c.2913A>C (p.Glu971Asp) c.2526A>C (p.Glu842Asp) c.2736A>C (p.Glu912Asp) c.2688A>C (p.Glu896Asp) c.2787A>C (p.Glu929Asp) c.2397A>C (p.Glu799Asp) c.3000A>C (p.Glu1000Asp) c.2748A>C (p.Glu916Asp) c.2511A>C (p.Glu837Asp) c.1656A>C (p.Glu552Asp)
1	g.53247037T>A	CA340399543	LRP8	c.2873A>T (p.Glu958Val) c.2363A>T (p.Glu788Val) c.2507A>T (p.Glu836Val) c.1038A>T (n.1038A>T) c.411A>T c.2408A>T (p.Glu803Val) c.1594A>T n.2333A>T c.375A>T (p.Ter125Cys) c.2003A>T (p.Glu668Val) c.717A>T c.2354A>T (p.Glu785Val) c.2108A>T (p.Glu703Val) n.2201A>T c.2092A>T (n.2092A>T) c.2486A>T (p.Glu829Val) c.2180A>T (p.Glu727Val) c.635A>T c.2677-1056A>T (n.2677-1056A>T) c.2280A>T c.2648A>T (p.Glu883Val) n.2586A>T n.9337A>T c.2084A>T (p.Glu695Val) c.2696A>T (p.Glu899Val) c.1355A>T (p.Glu452Val) c.1815A>T (n.1815A>T) c.346A>T c.2081A>T (p.Glu694Val) c.2912A>T (p.Glu971Val) c.2525A>T (p.Glu842Val) c.2735A>T (p.Glu912Val) c.2687A>T (p.Glu896Val) c.2786A>T (p.Glu929Val) c.2396A>T (p.Glu799Val) c.2999A>T (p.Glu1000Val) c.2747A>T (p.Glu916Val) c.2510A>T (p.Glu837Val) c.1655A>T (p.Glu552Val)
1	g.53247037T>C	CA340399544	LRP8	c.2873A>G (p.Glu958Gly) c.2363A>G (p.Glu788Gly) c.2507A>G (p.Glu836Gly) c.1038A>G (n.1038A>G) c.411A>G c.2408A>G (p.Glu803Gly) c.1594A>G n.2333A>G c.375A>G (p.Ter125Trp) c.2003A>G (p.Glu668Gly) c.717A>G c.2354A>G (p.Glu785Gly) c.2108A>G (p.Glu703Gly) n.2201A>G c.2092A>G (n.2092A>G) c.2486A>G (p.Glu829Gly) c.2180A>G (p.Glu727Gly) c.635A>G c.2677-1056A>G (n.2677-1056A>G) c.2280A>G c.2648A>G (p.Glu883Gly) n.2586A>G n.9337A>G c.2084A>G (p.Glu695Gly) c.2696A>G (p.Glu899Gly) c.1355A>G (p.Glu452Gly) c.1815A>G (n.1815A>G) c.346A>G c.2081A>G (p.Glu694Gly) c.2912A>G (p.Glu971Gly) c.2525A>G (p.Glu842Gly) c.2735A>G (p.Glu912Gly) c.2687A>G (p.Glu896Gly) c.2786A>G (p.Glu929Gly) c.2396A>G (p.Glu799Gly) c.2999A>G (p.Glu1000Gly) c.2747A>G (p.Glu916Gly) c.2510A>G (p.Glu837Gly) c.1655A>G (p.Glu552Gly)
1	g.53247037T>G	CA340399546	LRP8	c.2873A>C (p.Glu958Ala) c.2363A>C (p.Glu788Ala) c.2507A>C (p.Glu836Ala) c.1038A>C (n.1038A>C) c.411A>C c.2408A>C (p.Glu803Ala) c.1594A>C n.2333A>C c.375A>C (p.Ter125Cys) c.2003A>C (p.Glu668Ala) c.717A>C c.2354A>C (p.Glu785Ala) c.2108A>C (p.Glu703Ala) n.2201A>C c.2092A>C (n.2092A>C) c.2486A>C (p.Glu829Ala) c.2180A>C (p.Glu727Ala) c.635A>C c.2677-1056A>C (n.2677-1056A>C) c.2280A>C c.2648A>C (p.Glu883Ala) n.2586A>C n.9337A>C c.2084A>C (p.Glu695Ala) c.2696A>C (p.Glu899Ala) c.1355A>C (p.Glu452Ala) c.1815A>C (n.1815A>C) c.346A>C c.2081A>C (p.Glu694Ala) c.2912A>C (p.Glu971Ala) c.2525A>C (p.Glu842Ala) c.2735A>C (p.Glu912Ala) c.2687A>C (p.Glu896Ala) c.2786A>C (p.Glu929Ala) c.2396A>C (p.Glu799Ala) c.2999A>C (p.Glu1000Ala) c.2747A>C (p.Glu916Ala) c.2510A>C (p.Glu837Ala) c.1655A>C (p.Glu552Ala)
1	g.53247038C>A	CA340399548	LRP8	c.2872G>T (p.Glu958Ter) c.2362G>T (p.Glu788Ter) c.2506G>T (p.Glu836Ter) c.1037G>T (n.1037G>T) c.410G>T c.2407G>T (p.Glu803Ter) c.1593G>T n.2332G>T c.374G>T (p.Ter125Leu) c.2002G>T (p.Glu668Ter) c.716G>T c.2353G>T (p.Glu785Ter) c.2107G>T (p.Glu703Ter) n.2200G>T c.2091G>T (n.2091G>T) c.2485G>T (p.Glu829Ter) c.2179G>T (p.Glu727Ter) c.634G>T c.2677-1057G>T (n.2677-1057G>T) c.2279G>T c.2647G>T (p.Glu883Ter) n.2585G>T n.9336G>T c.2083G>T (p.Glu695Ter) c.2695G>T (p.Glu899Ter) c.1354G>T (p.Glu452Ter) c.1814G>T (n.1814G>T) c.345G>T c.2080G>T (p.Glu694Ter) c.2911G>T (p.Glu971Ter) c.2524G>T (p.Glu842Ter) c.2734G>T (p.Glu912Ter) c.2686G>T (p.Glu896Ter) c.2785G>T (p.Glu929Ter) c.2395G>T (p.Glu799Ter) c.2998G>T (p.Glu1000Ter) c.2746G>T (p.Glu916Ter) c.2509G>T (p.Glu837Ter) c.1654G>T (p.Glu552Ter)	dbSNP gnomAD v2 gnomAD v4
1	g.53247038C=	CA1167228776	LRP8	c.2872G= (p.Glu958=) c.2362G= (p.Glu788=) c.2506G= (p.Glu836=) c.1037G= (n.1037G=) c.410G= c.2407G= (p.Glu803=) c.1593G= n.2332G= c.374G= (p.Ter125=) c.2002G= (p.Glu668=) c.716G= c.2353G= (p.Glu785=) c.2107G= (p.Glu703=) n.2200G= c.2091G= (n.2091G=) c.2485G= (p.Glu829=) c.2179G= (p.Glu727=) c.634G= c.2677-1057G= (n.2677-1057G=) c.2279G= c.2647G= (p.Glu883=) n.2585G= n.9336G= c.2083G= (p.Glu695=) c.2695G= (p.Glu899=) c.1354G= (p.Glu452=) c.1814G= (n.1814G=) c.345G= c.2080G= (p.Glu694=) c.2911G= (p.Glu971=) c.2524G= (p.Glu842=) c.2734G= (p.Glu912=) c.2686G= (p.Glu896=) c.2785G= (p.Glu929=) c.2395G= (p.Glu799=) c.2998G= (p.Glu1000=) c.2746G= (p.Glu916=) c.2509G= (p.Glu837=) c.1654G= (p.Glu552=)
1	g.53247038C>G	CA340399550	LRP8	c.2872G>C (p.Glu958Gln) c.2362G>C (p.Glu788Gln) c.2506G>C (p.Glu836Gln) c.1037G>C (n.1037G>C) c.410G>C c.2407G>C (p.Glu803Gln) c.1593G>C n.2332G>C c.374G>C (p.Ter125Ser) c.2002G>C (p.Glu668Gln) c.716G>C c.2353G>C (p.Glu785Gln) c.2107G>C (p.Glu703Gln) n.2200G>C c.2091G>C (n.2091G>C) c.2485G>C (p.Glu829Gln) c.2179G>C (p.Glu727Gln) c.634G>C c.2677-1057G>C (n.2677-1057G>C) c.2279G>C c.2647G>C (p.Glu883Gln) n.2585G>C n.9336G>C c.2083G>C (p.Glu695Gln) c.2695G>C (p.Glu899Gln) c.1354G>C (p.Glu452Gln) c.1814G>C (n.1814G>C) c.345G>C c.2080G>C (p.Glu694Gln) c.2911G>C (p.Glu971Gln) c.2524G>C (p.Glu842Gln) c.2734G>C (p.Glu912Gln) c.2686G>C (p.Glu896Gln) c.2785G>C (p.Glu929Gln) c.2395G>C (p.Glu799Gln) c.2998G>C (p.Glu1000Gln) c.2746G>C (p.Glu916Gln) c.2509G>C (p.Glu837Gln) c.1654G>C (p.Glu552Gln)
1	g.53247038C>T	CA340399552	LRP8	c.2872G>A (p.Glu958Lys) c.2362G>A (p.Glu788Lys) c.2506G>A (p.Glu836Lys) c.1037G>A (n.1037G>A) c.410G>A c.2407G>A (p.Glu803Lys) c.1593G>A n.2332G>A c.374G>A (p.Ter125=) c.2002G>A (p.Glu668Lys) c.716G>A c.2353G>A (p.Glu785Lys) c.2107G>A (p.Glu703Lys) n.2200G>A c.2091G>A (n.2091G>A) c.2485G>A (p.Glu829Lys) c.2179G>A (p.Glu727Lys) c.634G>A c.2677-1057G>A (n.2677-1057G>A) c.2279G>A c.2647G>A (p.Glu883Lys) n.2585G>A n.9336G>A c.2083G>A (p.Glu695Lys) c.2695G>A (p.Glu899Lys) c.1354G>A (p.Glu452Lys) c.1814G>A (n.1814G>A) c.345G>A c.2080G>A (p.Glu694Lys) c.2911G>A (p.Glu971Lys) c.2524G>A (p.Glu842Lys) c.2734G>A (p.Glu912Lys) c.2686G>A (p.Glu896Lys) c.2785G>A (p.Glu929Lys) c.2395G>A (p.Glu799Lys) c.2998G>A (p.Glu1000Lys) c.2746G>A (p.Glu916Lys) c.2509G>A (p.Glu837Lys) c.1654G>A (p.Glu552Lys)
1	g.53247039A=	CA1167228777	LRP8	c.2871T= (p.Leu957=) c.2361T= (p.Leu787=) c.2505T= (p.Leu835=) c.1036T= (n.1036T=) c.409T= c.2406T= (p.Leu802=) c.1592T= n.2331T= c.373T= (p.Ter125=) c.2001T= (p.Leu667=) c.715T= c.2352T= (p.Leu784=) c.2106T= (p.Leu702=) n.2199T= c.2090T= (n.2090T=) c.2484T= (p.Leu828=) c.2178T= (p.Leu726=) c.633T= c.2677-1058T= (n.2677-1058T=) c.2278T= c.2646T= (p.Leu882=) n.2584T= n.9335T= c.2082T= (p.Leu694=) c.2694T= (p.Leu898=) c.1353T= (p.Leu451=) c.1813T= (n.1813T=) c.344T= c.2079T= (p.Leu693=) c.2910T= (p.Leu970=) c.2523T= (p.Leu841=) c.2733T= (p.Leu911=) c.2685T= (p.Leu895=) c.2784T= (p.Leu928=) c.2394T= (p.Leu798=) c.2997T= (p.Leu999=) c.2745T= (p.Leu915=) c.2508T= (p.Leu836=) c.1653T= (p.Leu551=)
1	g.53247039A>C	CA417902707	LRP8	c.2871T>G (p.Leu957=) c.2361T>G (p.Leu787=) c.2505T>G (p.Leu835=) c.1036T>G (n.1036T>G) c.409T>G c.2406T>G (p.Leu802=) c.1592T>G n.2331T>G c.373T>G (p.Ter125Gly) c.2001T>G (p.Leu667=) c.715T>G c.2352T>G (p.Leu784=) c.2106T>G (p.Leu702=) n.2199T>G c.2090T>G (n.2090T>G) c.2484T>G (p.Leu828=) c.2178T>G (p.Leu726=) c.633T>G c.2677-1058T>G (n.2677-1058T>G) c.2278T>G c.2646T>G (p.Leu882=) n.2584T>G n.9335T>G c.2082T>G (p.Leu694=) c.2694T>G (p.Leu898=) c.1353T>G (p.Leu451=) c.1813T>G (n.1813T>G) c.344T>G c.2079T>G (p.Leu693=) c.2910T>G (p.Leu970=) c.2523T>G (p.Leu841=) c.2733T>G (p.Leu911=) c.2685T>G (p.Leu895=) c.2784T>G (p.Leu928=) c.2394T>G (p.Leu798=) c.2997T>G (p.Leu999=) c.2745T>G (p.Leu915=) c.2508T>G (p.Leu836=) c.1653T>G (p.Leu551=)
1	g.53247039A>G	CA417902708	LRP8	c.2871T>C (p.Leu957=) c.2361T>C (p.Leu787=) c.2505T>C (p.Leu835=) c.1036T>C (n.1036T>C) c.409T>C c.2406T>C (p.Leu802=) c.1592T>C n.2331T>C c.373T>C (p.Ter125Arg) c.2001T>C (p.Leu667=) c.715T>C c.2352T>C (p.Leu784=) c.2106T>C (p.Leu702=) n.2199T>C c.2090T>C (n.2090T>C) c.2484T>C (p.Leu828=) c.2178T>C (p.Leu726=) c.633T>C c.2677-1058T>C (n.2677-1058T>C) c.2278T>C c.2646T>C (p.Leu882=) n.2584T>C n.9335T>C c.2082T>C (p.Leu694=) c.2694T>C (p.Leu898=) c.1353T>C (p.Leu451=) c.1813T>C (n.1813T>C) c.344T>C c.2079T>C (p.Leu693=) c.2910T>C (p.Leu970=) c.2523T>C (p.Leu841=) c.2733T>C (p.Leu911=) c.2685T>C (p.Leu895=) c.2784T>C (p.Leu928=) c.2394T>C (p.Leu798=) c.2997T>C (p.Leu999=) c.2745T>C (p.Leu915=) c.2508T>C (p.Leu836=) c.1653T>C (p.Leu551=)
1	g.53247039A>T	CA417902709	LRP8	c.2871T>A (p.Leu957=) c.2361T>A (p.Leu787=) c.2505T>A (p.Leu835=) c.1036T>A (n.1036T>A) c.409T>A c.2406T>A (p.Leu802=) c.1592T>A n.2331T>A c.373T>A (p.Ter125Arg) c.2001T>A (p.Leu667=) c.715T>A c.2352T>A (p.Leu784=) c.2106T>A (p.Leu702=) n.2199T>A c.2090T>A (n.2090T>A) c.2484T>A (p.Leu828=) c.2178T>A (p.Leu726=) c.633T>A c.2677-1058T>A (n.2677-1058T>A) c.2278T>A c.2646T>A (p.Leu882=) n.2584T>A n.9335T>A c.2082T>A (p.Leu694=) c.2694T>A (p.Leu898=) c.1353T>A (p.Leu451=) c.1813T>A (n.1813T>A) c.344T>A c.2079T>A (p.Leu693=) c.2910T>A (p.Leu970=) c.2523T>A (p.Leu841=) c.2733T>A (p.Leu911=) c.2685T>A (p.Leu895=) c.2784T>A (p.Leu928=) c.2394T>A (p.Leu798=) c.2997T>A (p.Leu999=) c.2745T>A (p.Leu915=) c.2508T>A (p.Leu836=) c.1653T>A (p.Leu551=)	dbSNP gnomAD v2 gnomAD v4
1	g.53247040A>C	CA340399559	LRP8	c.2870T>G (p.Leu957Arg) c.2360T>G (p.Leu787Arg) c.2504T>G (p.Leu835Arg) c.1035T>G (n.1035T>G) c.408T>G c.2405T>G (p.Leu802Arg) c.1591T>G n.2330T>G c.372T>G (p.Pro124=) c.2000T>G (p.Leu667Arg) c.714T>G c.2351T>G (p.Leu784Arg) c.2105T>G (p.Leu702Arg) n.2198T>G c.2089T>G (n.2089T>G) c.2483T>G (p.Leu828Arg) c.2177T>G (p.Leu726Arg) c.632T>G c.2677-1059T>G (n.2677-1059T>G) c.2277T>G c.2645T>G (p.Leu882Arg) n.2583T>G n.9334T>G c.2081T>G (p.Leu694Arg) c.2693T>G (p.Leu898Arg) c.1352T>G (p.Leu451Arg) c.1812T>G (n.1812T>G) c.343T>G c.2078T>G (p.Leu693Arg) c.2909T>G (p.Leu970Arg) c.2522T>G (p.Leu841Arg) c.2732T>G (p.Leu911Arg) c.2684T>G (p.Leu895Arg) c.2783T>G (p.Leu928Arg) c.2393T>G (p.Leu798Arg) c.2996T>G (p.Leu999Arg) c.2744T>G (p.Leu915Arg) c.2507T>G (p.Leu836Arg) c.1652T>G (p.Leu551Arg)
1	g.53247040A>G	CA340399555	LRP8	c.2870T>C (p.Leu957Pro) c.2360T>C (p.Leu787Pro) c.2504T>C (p.Leu835Pro) c.1035T>C (n.1035T>C) c.408T>C c.2405T>C (p.Leu802Pro) c.1591T>C n.2330T>C c.372T>C (p.Pro124=) c.2000T>C (p.Leu667Pro) c.714T>C c.2351T>C (p.Leu784Pro) c.2105T>C (p.Leu702Pro) n.2198T>C c.2089T>C (n.2089T>C) c.2483T>C (p.Leu828Pro) c.2177T>C (p.Leu726Pro) c.632T>C c.2677-1059T>C (n.2677-1059T>C) c.2277T>C c.2645T>C (p.Leu882Pro) n.2583T>C n.9334T>C c.2081T>C (p.Leu694Pro) c.2693T>C (p.Leu898Pro) c.1352T>C (p.Leu451Pro) c.1812T>C (n.1812T>C) c.343T>C c.2078T>C (p.Leu693Pro) c.2909T>C (p.Leu970Pro) c.2522T>C (p.Leu841Pro) c.2732T>C (p.Leu911Pro) c.2684T>C (p.Leu895Pro) c.2783T>C (p.Leu928Pro) c.2393T>C (p.Leu798Pro) c.2996T>C (p.Leu999Pro) c.2744T>C (p.Leu915Pro) c.2507T>C (p.Leu836Pro) c.1652T>C (p.Leu551Pro)	gnomAD v4
1	g.53247040A>T	CA340399557	LRP8	c.2870T>A (p.Leu957His) c.2360T>A (p.Leu787His) c.2504T>A (p.Leu835His) c.1035T>A (n.1035T>A) c.408T>A c.2405T>A (p.Leu802His) c.1591T>A n.2330T>A c.372T>A (p.Pro124=) c.2000T>A (p.Leu667His) c.714T>A c.2351T>A (p.Leu784His) c.2105T>A (p.Leu702His) n.2198T>A c.2089T>A (n.2089T>A) c.2483T>A (p.Leu828His) c.2177T>A (p.Leu726His) c.632T>A c.2677-1059T>A (n.2677-1059T>A) c.2277T>A c.2645T>A (p.Leu882His) n.2583T>A n.9334T>A c.2081T>A (p.Leu694His) c.2693T>A (p.Leu898His) c.1352T>A (p.Leu451His) c.1812T>A (n.1812T>A) c.343T>A c.2078T>A (p.Leu693His) c.2909T>A (p.Leu970His) c.2522T>A (p.Leu841His) c.2732T>A (p.Leu911His) c.2684T>A (p.Leu895His) c.2783T>A (p.Leu928His) c.2393T>A (p.Leu798His) c.2996T>A (p.Leu999His) c.2744T>A (p.Leu915His) c.2507T>A (p.Leu836His) c.1652T>A (p.Leu551His)
1	g.53247041G>A	CA340399562	LRP8	c.2869C>T (p.Leu957Phe) c.2359C>T (p.Leu787Phe) c.2503C>T (p.Leu835Phe) c.1034C>T (n.1034C>T) c.407C>T c.2404C>T (p.Leu802Phe) c.1590C>T n.2329C>T c.371C>T (p.Pro124Leu) c.1999C>T (p.Leu667Phe) c.713C>T c.2350C>T (p.Leu784Phe) c.2104C>T (p.Leu702Phe) n.2197C>T c.2088C>T (n.2088C>T) c.2482C>T (p.Leu828Phe) c.2176C>T (p.Leu726Phe) c.631C>T c.2677-1060C>T (n.2677-1060C>T) c.2276C>T c.2644C>T (p.Leu882Phe) n.2582C>T n.9333C>T c.2080C>T (p.Leu694Phe) c.2692C>T (p.Leu898Phe) c.1351C>T (p.Leu451Phe) c.1811C>T (n.1811C>T) c.342C>T c.2077C>T (p.Leu693Phe) c.2908C>T (p.Leu970Phe) c.2521C>T (p.Leu841Phe) c.2731C>T (p.Leu911Phe) c.2683C>T (p.Leu895Phe) c.2782C>T (p.Leu928Phe) c.2392C>T (p.Leu798Phe) c.2995C>T (p.Leu999Phe) c.2743C>T (p.Leu915Phe) c.2506C>T (p.Leu836Phe) c.1651C>T (p.Leu551Phe)
1	g.53247041G>C	CA340399563	LRP8	c.2869C>G (p.Leu957Val) c.2359C>G (p.Leu787Val) c.2503C>G (p.Leu835Val) c.1034C>G (n.1034C>G) c.407C>G c.2404C>G (p.Leu802Val) c.1590C>G n.2329C>G c.371C>G (p.Pro124Arg) c.1999C>G (p.Leu667Val) c.713C>G c.2350C>G (p.Leu784Val) c.2104C>G (p.Leu702Val) n.2197C>G c.2088C>G (n.2088C>G) c.2482C>G (p.Leu828Val) c.2176C>G (p.Leu726Val) c.631C>G c.2677-1060C>G (n.2677-1060C>G) c.2276C>G c.2644C>G (p.Leu882Val) n.2582C>G n.9333C>G c.2080C>G (p.Leu694Val) c.2692C>G (p.Leu898Val) c.1351C>G (p.Leu451Val) c.1811C>G (n.1811C>G) c.342C>G c.2077C>G (p.Leu693Val) c.2908C>G (p.Leu970Val) c.2521C>G (p.Leu841Val) c.2731C>G (p.Leu911Val) c.2683C>G (p.Leu895Val) c.2782C>G (p.Leu928Val) c.2392C>G (p.Leu798Val) c.2995C>G (p.Leu999Val) c.2743C>G (p.Leu915Val) c.2506C>G (p.Leu836Val) c.1651C>G (p.Leu551Val)
1	g.53247041G>T	CA340399565	LRP8	c.2869C>A (p.Leu957Ile) c.2359C>A (p.Leu787Ile) c.2503C>A (p.Leu835Ile) c.1034C>A (n.1034C>A) c.407C>A c.2404C>A (p.Leu802Ile) c.1590C>A n.2329C>A c.371C>A (p.Pro124His) c.1999C>A (p.Leu667Ile) c.713C>A c.2350C>A (p.Leu784Ile) c.2104C>A (p.Leu702Ile) n.2197C>A c.2088C>A (n.2088C>A) c.2482C>A (p.Leu828Ile) c.2176C>A (p.Leu726Ile) c.631C>A c.2677-1060C>A (n.2677-1060C>A) c.2276C>A c.2644C>A (p.Leu882Ile) n.2582C>A n.9333C>A c.2080C>A (p.Leu694Ile) c.2692C>A (p.Leu898Ile) c.1351C>A (p.Leu451Ile) c.1811C>A (n.1811C>A) c.342C>A c.2077C>A (p.Leu693Ile) c.2908C>A (p.Leu970Ile) c.2521C>A (p.Leu841Ile) c.2731C>A (p.Leu911Ile) c.2683C>A (p.Leu895Ile) c.2782C>A (p.Leu928Ile) c.2392C>A (p.Leu798Ile) c.2995C>A (p.Leu999Ile) c.2743C>A (p.Leu915Ile) c.2506C>A (p.Leu836Ile) c.1651C>A (p.Leu551Ile)
1	g.53247042G>A	CA417902710	LRP8	c.2868C>T (p.Ser956=) c.2358C>T (p.Ser786=) c.2502C>T (p.Ser834=) c.1033C>T (n.1033C>T) c.406C>T c.2403C>T (p.Ser801=) c.1589C>T n.2328C>T c.370C>T (p.Pro124Ser) c.1998C>T (p.Ser666=) c.712C>T c.2349C>T (p.Ser783=) c.2103C>T (p.Ser701=) n.2196C>T c.2087C>T (n.2087C>T) c.2481C>T (p.Ser827=) c.2175C>T (p.Ser725=) c.630C>T c.2677-1061C>T (n.2677-1061C>T) c.2275C>T c.2643C>T (p.Ser881=) n.2581C>T n.9332C>T c.2079C>T (p.Ser693=) c.2691C>T (p.Ser897=) c.1350C>T (p.Ser450=) c.1810C>T (n.1810C>T) c.341C>T c.2076C>T (p.Ser692=) c.2907C>T (p.Ser969=) c.2520C>T (p.Ser840=) c.2730C>T (p.Ser910=) c.2682C>T (p.Ser894=) c.2781C>T (p.Ser927=) c.2391C>T (p.Ser797=) c.2994C>T (p.Ser998=) c.2742C>T (p.Ser914=) c.2505C>T (p.Ser835=) c.1650C>T (p.Ser550=)
1	g.53247042G>C	CA859825	LRP8	c.2868C>G (p.Ser956Arg) c.2358C>G (p.Ser786Arg) c.2502C>G (p.Ser834Arg) c.1033C>G (n.1033C>G) c.406C>G c.2403C>G (p.Ser801Arg) c.1589C>G n.2328C>G c.370C>G (p.Pro124Ala) c.1998C>G (p.Ser666Arg) c.712C>G c.2349C>G (p.Ser783Arg) c.2103C>G (p.Ser701Arg) n.2196C>G c.2087C>G (n.2087C>G) c.2481C>G (p.Ser827Arg) c.2175C>G (p.Ser725Arg) c.630C>G c.2677-1061C>G (n.2677-1061C>G) c.2275C>G c.2643C>G (p.Ser881Arg) n.2581C>G n.9332C>G c.2079C>G (p.Ser693Arg) c.2691C>G (p.Ser897Arg) c.1350C>G (p.Ser450Arg) c.1810C>G (n.1810C>G) c.341C>G c.2076C>G (p.Ser692Arg) c.2907C>G (p.Ser969Arg) c.2520C>G (p.Ser840Arg) c.2730C>G (p.Ser910Arg) c.2682C>G (p.Ser894Arg) c.2781C>G (p.Ser927Arg) c.2391C>G (p.Ser797Arg) c.2994C>G (p.Ser998Arg) c.2742C>G (p.Ser914Arg) c.2505C>G (p.Ser835Arg) c.1650C>G (p.Ser550Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.53247042G=	CA1167228778	LRP8	c.2868C= (p.Ser956=) c.2358C= (p.Ser786=) c.2502C= (p.Ser834=) c.1033C= (n.1033C=) c.406C= c.2403C= (p.Ser801=) c.1589C= n.2328C= c.370C= (p.Pro124=) c.1998C= (p.Ser666=) c.712C= c.2349C= (p.Ser783=) c.2103C= (p.Ser701=) n.2196C= c.2087C= (n.2087C=) c.2481C= (p.Ser827=) c.2175C= (p.Ser725=) c.630C= c.2677-1061C= (n.2677-1061C=) c.2275C= c.2643C= (p.Ser881=) n.2581C= n.9332C= c.2079C= (p.Ser693=) c.2691C= (p.Ser897=) c.1350C= (p.Ser450=) c.1810C= (n.1810C=) c.341C= c.2076C= (p.Ser692=) c.2907C= (p.Ser969=) c.2520C= (p.Ser840=) c.2730C= (p.Ser910=) c.2682C= (p.Ser894=) c.2781C= (p.Ser927=) c.2391C= (p.Ser797=) c.2994C= (p.Ser998=) c.2742C= (p.Ser914=) c.2505C= (p.Ser835=) c.1650C= (p.Ser550=)
1	g.53247042G>T	CA340399569	LRP8	c.2868C>A (p.Ser956Arg) c.2358C>A (p.Ser786Arg) c.2502C>A (p.Ser834Arg) c.1033C>A (n.1033C>A) c.406C>A c.2403C>A (p.Ser801Arg) c.1589C>A n.2328C>A c.370C>A (p.Pro124Thr) c.1998C>A (p.Ser666Arg) c.712C>A c.2349C>A (p.Ser783Arg) c.2103C>A (p.Ser701Arg) n.2196C>A c.2087C>A (n.2087C>A) c.2481C>A (p.Ser827Arg) c.2175C>A (p.Ser725Arg) c.630C>A c.2677-1061C>A (n.2677-1061C>A) c.2275C>A c.2643C>A (p.Ser881Arg) n.2581C>A n.9332C>A c.2079C>A (p.Ser693Arg) c.2691C>A (p.Ser897Arg) c.1350C>A (p.Ser450Arg) c.1810C>A (n.1810C>A) c.341C>A c.2076C>A (p.Ser692Arg) c.2907C>A (p.Ser969Arg) c.2520C>A (p.Ser840Arg) c.2730C>A (p.Ser910Arg) c.2682C>A (p.Ser894Arg) c.2781C>A (p.Ser927Arg) c.2391C>A (p.Ser797Arg) c.2994C>A (p.Ser998Arg) c.2742C>A (p.Ser914Arg) c.2505C>A (p.Ser835Arg) c.1650C>A (p.Ser550Arg)
1	g.53247043C>A	CA340399572	LRP8	c.2867G>T (p.Ser956Ile) c.2357G>T (p.Ser786Ile) c.2501G>T (p.Ser834Ile) c.1032G>T (n.1032G>T) c.405G>T c.2402G>T (p.Ser801Ile) c.1588G>T n.2327G>T c.369G>T (p.Lys123Asn) c.1997G>T (p.Ser666Ile) c.711G>T c.2348G>T (p.Ser783Ile) c.2102G>T (p.Ser701Ile) n.2195G>T c.2086G>T (n.2086G>T) c.2480G>T (p.Ser827Ile) c.2174G>T (p.Ser725Ile) c.629G>T c.2677-1062G>T (n.2677-1062G>T) c.2274G>T c.2642G>T (p.Ser881Ile) n.2580G>T n.9331G>T c.2078G>T (p.Ser693Ile) c.2690G>T (p.Ser897Ile) c.1349G>T (p.Ser450Ile) c.1809G>T (n.1809G>T) c.340G>T c.2075G>T (p.Ser692Ile) c.2906G>T (p.Ser969Ile) c.2519G>T (p.Ser840Ile) c.2729G>T (p.Ser910Ile) c.2681G>T (p.Ser894Ile) c.2780G>T (p.Ser927Ile) c.2390G>T (p.Ser797Ile) c.2993G>T (p.Ser998Ile) c.2741G>T (p.Ser914Ile) c.2504G>T (p.Ser835Ile) c.1649G>T (p.Ser550Ile)
1	g.53247043C=	CA1167228779	LRP8	c.2867G= (p.Ser956=) c.2357G= (p.Ser786=) c.2501G= (p.Ser834=) c.1032G= (n.1032G=) c.405G= c.2402G= (p.Ser801=) c.1588G= n.2327G= c.369G= (p.Lys123=) c.1997G= (p.Ser666=) c.711G= c.2348G= (p.Ser783=) c.2102G= (p.Ser701=) n.2195G= c.2086G= (n.2086G=) c.2480G= (p.Ser827=) c.2174G= (p.Ser725=) c.629G= c.2677-1062G= (n.2677-1062G=) c.2274G= c.2642G= (p.Ser881=) n.2580G= n.9331G= c.2078G= (p.Ser693=) c.2690G= (p.Ser897=) c.1349G= (p.Ser450=) c.1809G= (n.1809G=) c.340G= c.2075G= (p.Ser692=) c.2906G= (p.Ser969=) c.2519G= (p.Ser840=) c.2729G= (p.Ser910=) c.2681G= (p.Ser894=) c.2780G= (p.Ser927=) c.2390G= (p.Ser797=) c.2993G= (p.Ser998=) c.2741G= (p.Ser914=) c.2504G= (p.Ser835=) c.1649G= (p.Ser550=)
1	g.53247043C>G	CA340399573	LRP8	c.2867G>C (p.Ser956Thr) c.2357G>C (p.Ser786Thr) c.2501G>C (p.Ser834Thr) c.1032G>C (n.1032G>C) c.405G>C c.2402G>C (p.Ser801Thr) c.1588G>C n.2327G>C c.369G>C (p.Lys123Asn) c.1997G>C (p.Ser666Thr) c.711G>C c.2348G>C (p.Ser783Thr) c.2102G>C (p.Ser701Thr) n.2195G>C c.2086G>C (n.2086G>C) c.2480G>C (p.Ser827Thr) c.2174G>C (p.Ser725Thr) c.629G>C c.2677-1062G>C (n.2677-1062G>C) c.2274G>C c.2642G>C (p.Ser881Thr) n.2580G>C n.9331G>C c.2078G>C (p.Ser693Thr) c.2690G>C (p.Ser897Thr) c.1349G>C (p.Ser450Thr) c.1809G>C (n.1809G>C) c.340G>C c.2075G>C (p.Ser692Thr) c.2906G>C (p.Ser969Thr) c.2519G>C (p.Ser840Thr) c.2729G>C (p.Ser910Thr) c.2681G>C (p.Ser894Thr) c.2780G>C (p.Ser927Thr) c.2390G>C (p.Ser797Thr) c.2993G>C (p.Ser998Thr) c.2741G>C (p.Ser914Thr) c.2504G>C (p.Ser835Thr) c.1649G>C (p.Ser550Thr)
1	g.53247043C>T	CA340399576	LRP8	c.2867G>A (p.Ser956Asn) c.2357G>A (p.Ser786Asn) c.2501G>A (p.Ser834Asn) c.1032G>A (n.1032G>A) c.405G>A c.2402G>A (p.Ser801Asn) c.1588G>A n.2327G>A c.369G>A (p.Lys123=) c.1997G>A (p.Ser666Asn) c.711G>A c.2348G>A (p.Ser783Asn) c.2102G>A (p.Ser701Asn) n.2195G>A c.2086G>A (n.2086G>A) c.2480G>A (p.Ser827Asn) c.2174G>A (p.Ser725Asn) c.629G>A c.2677-1062G>A (n.2677-1062G>A) c.2274G>A c.2642G>A (p.Ser881Asn) n.2580G>A n.9331G>A c.2078G>A (p.Ser693Asn) c.2690G>A (p.Ser897Asn) c.1349G>A (p.Ser450Asn) c.1809G>A (n.1809G>A) c.340G>A c.2075G>A (p.Ser692Asn) c.2906G>A (p.Ser969Asn) c.2519G>A (p.Ser840Asn) c.2729G>A (p.Ser910Asn) c.2681G>A (p.Ser894Asn) c.2780G>A (p.Ser927Asn) c.2390G>A (p.Ser797Asn) c.2993G>A (p.Ser998Asn) c.2741G>A (p.Ser914Asn) c.2504G>A (p.Ser835Asn) c.1649G>A (p.Ser550Asn)	dbSNP gnomAD v3 gnomAD v4
1	g.53247044T>A	CA340399578	LRP8	c.2866A>T (p.Ser956Cys) c.2356A>T (p.Ser786Cys) c.2500A>T (p.Ser834Cys) c.1031A>T (n.1031A>T) c.404A>T c.2401A>T (p.Ser801Cys) c.1587A>T n.2326A>T c.368A>T (p.Lys123Met) c.1996A>T (p.Ser666Cys) c.710A>T c.2347A>T (p.Ser783Cys) c.2101A>T (p.Ser701Cys) n.2194A>T c.2085A>T (n.2085A>T) c.2479A>T (p.Ser827Cys) c.2173A>T (p.Ser725Cys) c.628A>T c.2677-1063A>T (n.2677-1063A>T) c.2273A>T c.2641A>T (p.Ser881Cys) n.2579A>T n.9330A>T c.2077A>T (p.Ser693Cys) c.2689A>T (p.Ser897Cys) c.1348A>T (p.Ser450Cys) c.1808A>T (n.1808A>T) c.339A>T c.2074A>T (p.Ser692Cys) c.2905A>T (p.Ser969Cys) c.2518A>T (p.Ser840Cys) c.2728A>T (p.Ser910Cys) c.2680A>T (p.Ser894Cys) c.2779A>T (p.Ser927Cys) c.2389A>T (p.Ser797Cys) c.2992A>T (p.Ser998Cys) c.2740A>T (p.Ser914Cys) c.2503A>T (p.Ser835Cys) c.1648A>T (p.Ser550Cys)
1	g.53247044T>C	CA340399581	LRP8	c.2866A>G (p.Ser956Gly) c.2356A>G (p.Ser786Gly) c.2500A>G (p.Ser834Gly) c.1031A>G (n.1031A>G) c.404A>G c.2401A>G (p.Ser801Gly) c.1587A>G n.2326A>G c.368A>G (p.Lys123Arg) c.1996A>G (p.Ser666Gly) c.710A>G c.2347A>G (p.Ser783Gly) c.2101A>G (p.Ser701Gly) n.2194A>G c.2085A>G (n.2085A>G) c.2479A>G (p.Ser827Gly) c.2173A>G (p.Ser725Gly) c.628A>G c.2677-1063A>G (n.2677-1063A>G) c.2273A>G c.2641A>G (p.Ser881Gly) n.2579A>G n.9330A>G c.2077A>G (p.Ser693Gly) c.2689A>G (p.Ser897Gly) c.1348A>G (p.Ser450Gly) c.1808A>G (n.1808A>G) c.339A>G c.2074A>G (p.Ser692Gly) c.2905A>G (p.Ser969Gly) c.2518A>G (p.Ser840Gly) c.2728A>G (p.Ser910Gly) c.2680A>G (p.Ser894Gly) c.2779A>G (p.Ser927Gly) c.2389A>G (p.Ser797Gly) c.2992A>G (p.Ser998Gly) c.2740A>G (p.Ser914Gly) c.2503A>G (p.Ser835Gly) c.1648A>G (p.Ser550Gly)
1	g.53247044T>G	CA340399583	LRP8	c.2866A>C (p.Ser956Arg) c.2356A>C (p.Ser786Arg) c.2500A>C (p.Ser834Arg) c.1031A>C (n.1031A>C) c.404A>C c.2401A>C (p.Ser801Arg) c.1587A>C n.2326A>C c.368A>C (p.Lys123Thr) c.1996A>C (p.Ser666Arg) c.710A>C c.2347A>C (p.Ser783Arg) c.2101A>C (p.Ser701Arg) n.2194A>C c.2085A>C (n.2085A>C) c.2479A>C (p.Ser827Arg) c.2173A>C (p.Ser725Arg) c.628A>C c.2677-1063A>C (n.2677-1063A>C) c.2273A>C c.2641A>C (p.Ser881Arg) n.2579A>C n.9330A>C c.2077A>C (p.Ser693Arg) c.2689A>C (p.Ser897Arg) c.1348A>C (p.Ser450Arg) c.1808A>C (n.1808A>C) c.339A>C c.2074A>C (p.Ser692Arg) c.2905A>C (p.Ser969Arg) c.2518A>C (p.Ser840Arg) c.2728A>C (p.Ser910Arg) c.2680A>C (p.Ser894Arg) c.2779A>C (p.Ser927Arg) c.2389A>C (p.Ser797Arg) c.2992A>C (p.Ser998Arg) c.2740A>C (p.Ser914Arg) c.2503A>C (p.Ser835Arg) c.1648A>C (p.Ser550Arg)
1	g.53247045T>A	CA340399588	LRP8	c.2865A>T (p.Leu955Phe) c.2355A>T (p.Leu785Phe) c.2499A>T (p.Leu833Phe) c.1030A>T (n.1030A>T) c.403A>T c.2400A>T (p.Leu800Phe) c.1586A>T n.2325A>T c.367A>T (p.Lys123Ter) c.1995A>T (p.Leu665Phe) c.709A>T c.2346A>T (p.Leu782Phe) c.2100A>T (p.Leu700Phe) n.2193A>T c.2084A>T (n.2084A>T) c.2478A>T (p.Leu826Phe) c.2172A>T (p.Leu724Phe) c.627A>T c.2677-1064A>T (n.2677-1064A>T) c.2272A>T c.2640A>T (p.Leu880Phe) n.2578A>T n.9329A>T c.2076A>T (p.Leu692Phe) c.2688A>T (p.Leu896Phe) c.1347A>T (p.Leu449Phe) c.1807A>T (n.1807A>T) c.338A>T c.2073A>T (p.Leu691Phe) c.2904A>T (p.Leu968Phe) c.2517A>T (p.Leu839Phe) c.2727A>T (p.Leu909Phe) c.2679A>T (p.Leu893Phe) c.2778A>T (p.Leu926Phe) c.2388A>T (p.Leu796Phe) c.2991A>T (p.Leu997Phe) c.2739A>T (p.Leu913Phe) c.2502A>T (p.Leu834Phe) c.1647A>T (p.Leu549Phe)
1	g.53247045T>C	CA417902711	LRP8	c.2865A>G (p.Leu955=) c.2355A>G (p.Leu785=) c.2499A>G (p.Leu833=) c.1030A>G (n.1030A>G) c.403A>G c.2400A>G (p.Leu800=) c.1586A>G n.2325A>G c.367A>G (p.Lys123Glu) c.1995A>G (p.Leu665=) c.709A>G c.2346A>G (p.Leu782=) c.2100A>G (p.Leu700=) n.2193A>G c.2084A>G (n.2084A>G) c.2478A>G (p.Leu826=) c.2172A>G (p.Leu724=) c.627A>G c.2677-1064A>G (n.2677-1064A>G) c.2272A>G c.2640A>G (p.Leu880=) n.2578A>G n.9329A>G c.2076A>G (p.Leu692=) c.2688A>G (p.Leu896=) c.1347A>G (p.Leu449=) c.1807A>G (n.1807A>G) c.338A>G c.2073A>G (p.Leu691=) c.2904A>G (p.Leu968=) c.2517A>G (p.Leu839=) c.2727A>G (p.Leu909=) c.2679A>G (p.Leu893=) c.2778A>G (p.Leu926=) c.2388A>G (p.Leu796=) c.2991A>G (p.Leu997=) c.2739A>G (p.Leu913=) c.2502A>G (p.Leu834=) c.1647A>G (p.Leu549=)
1	g.53247045T>G	CA340399585	LRP8	c.2865A>C (p.Leu955Phe) c.2355A>C (p.Leu785Phe) c.2499A>C (p.Leu833Phe) c.1030A>C (n.1030A>C) c.403A>C c.2400A>C (p.Leu800Phe) c.1586A>C n.2325A>C c.367A>C (p.Lys123Gln) c.1995A>C (p.Leu665Phe) c.709A>C c.2346A>C (p.Leu782Phe) c.2100A>C (p.Leu700Phe) n.2193A>C c.2084A>C (n.2084A>C) c.2478A>C (p.Leu826Phe) c.2172A>C (p.Leu724Phe) c.627A>C c.2677-1064A>C (n.2677-1064A>C) c.2272A>C c.2640A>C (p.Leu880Phe) n.2578A>C n.9329A>C c.2076A>C (p.Leu692Phe) c.2688A>C (p.Leu896Phe) c.1347A>C (p.Leu449Phe) c.1807A>C (n.1807A>C) c.338A>C c.2073A>C (p.Leu691Phe) c.2904A>C (p.Leu968Phe) c.2517A>C (p.Leu839Phe) c.2727A>C (p.Leu909Phe) c.2679A>C (p.Leu893Phe) c.2778A>C (p.Leu926Phe) c.2388A>C (p.Leu796Phe) c.2991A>C (p.Leu997Phe) c.2739A>C (p.Leu913Phe) c.2502A>C (p.Leu834Phe) c.1647A>C (p.Leu549Phe)
1	g.53247046A=	CA1167228780	LRP8	c.2864T= (p.Leu955=) c.2354T= (p.Leu785=) c.2498T= (p.Leu833=) c.1029T= (n.1029T=) c.402T= c.2399T= (p.Leu800=) c.1585T= n.2324T= c.366T= (p.Ile122=) c.1994T= (p.Leu665=) c.708T= c.2345T= (p.Leu782=) c.2099T= (p.Leu700=) n.2192T= c.2083T= (n.2083T=) c.2477T= (p.Leu826=) c.2171T= (p.Leu724=) c.626T= c.2677-1065T= (n.2677-1065T=) c.2271T= c.2639T= (p.Leu880=) n.2577T= n.9328T= c.2075T= (p.Leu692=) c.2687T= (p.Leu896=) c.1346T= (p.Leu449=) c.1806T= (n.1806T=) c.337T= c.2072T= (p.Leu691=) c.2903T= (p.Leu968=) c.2516T= (p.Leu839=) c.2726T= (p.Leu909=) c.2678T= (p.Leu893=) c.2777T= (p.Leu926=) c.2387T= (p.Leu796=) c.2990T= (p.Leu997=) c.2738T= (p.Leu913=) c.2501T= (p.Leu834=) c.1646T= (p.Leu549=)
1	g.53247046A>C	CA340399590	LRP8	c.2864T>G (p.Leu955Ter) c.2354T>G (p.Leu785Ter) c.2498T>G (p.Leu833Ter) c.1029T>G (n.1029T>G) c.402T>G c.2399T>G (p.Leu800Ter) c.1585T>G n.2324T>G c.366T>G (p.Ile122Met) c.1994T>G (p.Leu665Ter) c.708T>G c.2345T>G (p.Leu782Ter) c.2099T>G (p.Leu700Ter) n.2192T>G c.2083T>G (n.2083T>G) c.2477T>G (p.Leu826Ter) c.2171T>G (p.Leu724Ter) c.626T>G c.2677-1065T>G (n.2677-1065T>G) c.2271T>G c.2639T>G (p.Leu880Ter) n.2577T>G n.9328T>G c.2075T>G (p.Leu692Ter) c.2687T>G (p.Leu896Ter) c.1346T>G (p.Leu449Ter) c.1806T>G (n.1806T>G) c.337T>G c.2072T>G (p.Leu691Ter) c.2903T>G (p.Leu968Ter) c.2516T>G (p.Leu839Ter) c.2726T>G (p.Leu909Ter) c.2678T>G (p.Leu893Ter) c.2777T>G (p.Leu926Ter) c.2387T>G (p.Leu796Ter) c.2990T>G (p.Leu997Ter) c.2738T>G (p.Leu913Ter) c.2501T>G (p.Leu834Ter) c.1646T>G (p.Leu549Ter)
1	g.53247046A>G	CA340399592	LRP8	c.2864T>C (p.Leu955Ser) c.2354T>C (p.Leu785Ser) c.2498T>C (p.Leu833Ser) c.1029T>C (n.1029T>C) c.402T>C c.2399T>C (p.Leu800Ser) c.1585T>C n.2324T>C c.366T>C (p.Ile122=) c.1994T>C (p.Leu665Ser) c.708T>C c.2345T>C (p.Leu782Ser) c.2099T>C (p.Leu700Ser) n.2192T>C c.2083T>C (n.2083T>C) c.2477T>C (p.Leu826Ser) c.2171T>C (p.Leu724Ser) c.626T>C c.2677-1065T>C (n.2677-1065T>C) c.2271T>C c.2639T>C (p.Leu880Ser) n.2577T>C n.9328T>C c.2075T>C (p.Leu692Ser) c.2687T>C (p.Leu896Ser) c.1346T>C (p.Leu449Ser) c.1806T>C (n.1806T>C) c.337T>C c.2072T>C (p.Leu691Ser) c.2903T>C (p.Leu968Ser) c.2516T>C (p.Leu839Ser) c.2726T>C (p.Leu909Ser) c.2678T>C (p.Leu893Ser) c.2777T>C (p.Leu926Ser) c.2387T>C (p.Leu796Ser) c.2990T>C (p.Leu997Ser) c.2738T>C (p.Leu913Ser) c.2501T>C (p.Leu834Ser) c.1646T>C (p.Leu549Ser)	dbSNP gnomAD v4
1	g.53247046A>T	CA340399594	LRP8	c.2864T>A (p.Leu955Ter) c.2354T>A (p.Leu785Ter) c.2498T>A (p.Leu833Ter) c.1029T>A (n.1029T>A) c.402T>A c.2399T>A (p.Leu800Ter) c.1585T>A n.2324T>A c.366T>A (p.Ile122=) c.1994T>A (p.Leu665Ter) c.708T>A c.2345T>A (p.Leu782Ter) c.2099T>A (p.Leu700Ter) n.2192T>A c.2083T>A (n.2083T>A) c.2477T>A (p.Leu826Ter) c.2171T>A (p.Leu724Ter) c.626T>A c.2677-1065T>A (n.2677-1065T>A) c.2271T>A c.2639T>A (p.Leu880Ter) n.2577T>A n.9328T>A c.2075T>A (p.Leu692Ter) c.2687T>A (p.Leu896Ter) c.1346T>A (p.Leu449Ter) c.1806T>A (n.1806T>A) c.337T>A c.2072T>A (p.Leu691Ter) c.2903T>A (p.Leu968Ter) c.2516T>A (p.Leu839Ter) c.2726T>A (p.Leu909Ter) c.2678T>A (p.Leu893Ter) c.2777T>A (p.Leu926Ter) c.2387T>A (p.Leu796Ter) c.2990T>A (p.Leu997Ter) c.2738T>A (p.Leu913Ter) c.2501T>A (p.Leu834Ter) c.1646T>A (p.Leu549Ter)
1	g.53247047A=	CA1167228781	LRP8	c.2863T= (p.Leu955=) c.2353T= (p.Leu785=) c.2497T= (p.Leu833=) c.1028T= (n.1028T=) c.401T= c.2398T= (p.Leu800=) c.1584T= n.2323T= c.365T= (p.Ile122=) c.1993T= (p.Leu665=) c.707T= c.2344T= (p.Leu782=) c.2098T= (p.Leu700=) n.2191T= c.2082T= (n.2082T=) c.2476T= (p.Leu826=) c.2170T= (p.Leu724=) c.625T= c.2677-1066T= (n.2677-1066T=) c.2270T= c.2638T= (p.Leu880=) n.2576T= n.9327T= c.2074T= (p.Leu692=) c.2686T= (p.Leu896=) c.1345T= (p.Leu449=) c.1805T= (n.1805T=) c.336T= c.2071T= (p.Leu691=) c.2902T= (p.Leu968=) c.2515T= (p.Leu839=) c.2725T= (p.Leu909=) c.2677T= (p.Leu893=) c.2776T= (p.Leu926=) c.2386T= (p.Leu796=) c.2989T= (p.Leu997=) c.2737T= (p.Leu913=) c.2500T= (p.Leu834=) c.1645T= (p.Leu549=)
1	g.53247047A>C	CA340399595	LRP8	c.2863T>G (p.Leu955Val) c.2353T>G (p.Leu785Val) c.2497T>G (p.Leu833Val) c.1028T>G (n.1028T>G) c.401T>G c.2398T>G (p.Leu800Val) c.1584T>G n.2323T>G c.365T>G (p.Ile122Ser) c.1993T>G (p.Leu665Val) c.707T>G c.2344T>G (p.Leu782Val) c.2098T>G (p.Leu700Val) n.2191T>G c.2082T>G (n.2082T>G) c.2476T>G (p.Leu826Val) c.2170T>G (p.Leu724Val) c.625T>G c.2677-1066T>G (n.2677-1066T>G) c.2270T>G c.2638T>G (p.Leu880Val) n.2576T>G n.9327T>G c.2074T>G (p.Leu692Val) c.2686T>G (p.Leu896Val) c.1345T>G (p.Leu449Val) c.1805T>G (n.1805T>G) c.336T>G c.2071T>G (p.Leu691Val) c.2902T>G (p.Leu968Val) c.2515T>G (p.Leu839Val) c.2725T>G (p.Leu909Val) c.2677T>G (p.Leu893Val) c.2776T>G (p.Leu926Val) c.2386T>G (p.Leu796Val) c.2989T>G (p.Leu997Val) c.2737T>G (p.Leu913Val) c.2500T>G (p.Leu834Val) c.1645T>G (p.Leu549Val)
1	g.53247047A>G	CA859826	LRP8	c.2863T>C (p.Leu955=) c.2353T>C (p.Leu785=) c.2497T>C (p.Leu833=) c.1028T>C (n.1028T>C) c.401T>C c.2398T>C (p.Leu800=) c.1584T>C n.2323T>C c.365T>C (p.Ile122Thr) c.1993T>C (p.Leu665=) c.707T>C c.2344T>C (p.Leu782=) c.2098T>C (p.Leu700=) n.2191T>C c.2082T>C (n.2082T>C) c.2476T>C (p.Leu826=) c.2170T>C (p.Leu724=) c.625T>C c.2677-1066T>C (n.2677-1066T>C) c.2270T>C c.2638T>C (p.Leu880=) n.2576T>C n.9327T>C c.2074T>C (p.Leu692=) c.2686T>C (p.Leu896=) c.1345T>C (p.Leu449=) c.1805T>C (n.1805T>C) c.336T>C c.2071T>C (p.Leu691=) c.2902T>C (p.Leu968=) c.2515T>C (p.Leu839=) c.2725T>C (p.Leu909=) c.2677T>C (p.Leu893=) c.2776T>C (p.Leu926=) c.2386T>C (p.Leu796=) c.2989T>C (p.Leu997=) c.2737T>C (p.Leu913=) c.2500T>C (p.Leu834=) c.1645T>C (p.Leu549=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247047A>T	CA340399598	LRP8	c.2863T>A (p.Leu955Ile) c.2353T>A (p.Leu785Ile) c.2497T>A (p.Leu833Ile) c.1028T>A (n.1028T>A) c.401T>A c.2398T>A (p.Leu800Ile) c.1584T>A n.2323T>A c.365T>A (p.Ile122Asn) c.1993T>A (p.Leu665Ile) c.707T>A c.2344T>A (p.Leu782Ile) c.2098T>A (p.Leu700Ile) n.2191T>A c.2082T>A (n.2082T>A) c.2476T>A (p.Leu826Ile) c.2170T>A (p.Leu724Ile) c.625T>A c.2677-1066T>A (n.2677-1066T>A) c.2270T>A c.2638T>A (p.Leu880Ile) n.2576T>A n.9327T>A c.2074T>A (p.Leu692Ile) c.2686T>A (p.Leu896Ile) c.1345T>A (p.Leu449Ile) c.1805T>A (n.1805T>A) c.336T>A c.2071T>A (p.Leu691Ile) c.2902T>A (p.Leu968Ile) c.2515T>A (p.Leu839Ile) c.2725T>A (p.Leu909Ile) c.2677T>A (p.Leu893Ile) c.2776T>A (p.Leu926Ile) c.2386T>A (p.Leu796Ile) c.2989T>A (p.Leu997Ile) c.2737T>A (p.Leu913Ile) c.2500T>A (p.Leu834Ile) c.1645T>A (p.Leu549Ile)
1	g.53247048T>A	CA417902712	LRP8	c.2862A>T (p.Ala954=) c.2352A>T (p.Ala784=) c.2496A>T (p.Ala832=) c.1027A>T (n.1027A>T) c.400A>T c.2397A>T (p.Ala799=) c.1583A>T n.2322A>T c.364A>T (p.Ile122Phe) c.1992A>T (p.Ala664=) c.706A>T c.2343A>T (p.Ala781=) c.2097A>T (p.Ala699=) n.2190A>T c.2081A>T (n.2081A>T) c.2475A>T (p.Ala825=) c.2169A>T (p.Ala723=) c.624A>T c.2677-1067A>T (n.2677-1067A>T) c.2269A>T c.2637A>T (p.Ala879=) n.2575A>T n.9326A>T c.2073A>T (p.Ala691=) c.2685A>T (p.Ala895=) c.1344A>T (p.Ala448=) c.1804A>T (n.1804A>T) c.335A>T c.2070A>T (p.Ala690=) c.2901A>T (p.Ala967=) c.2514A>T (p.Ala838=) c.2724A>T (p.Ala908=) c.2676A>T (p.Ala892=) c.2775A>T (p.Ala925=) c.2385A>T (p.Ala795=) c.2988A>T (p.Ala996=) c.2736A>T (p.Ala912=) c.2499A>T (p.Ala833=) c.1644A>T (p.Ala548=)
1	g.53247048T>C	CA417902713	LRP8	c.2862A>G (p.Ala954=) c.2352A>G (p.Ala784=) c.2496A>G (p.Ala832=) c.1027A>G (n.1027A>G) c.400A>G c.2397A>G (p.Ala799=) c.1583A>G n.2322A>G c.364A>G (p.Ile122Val) c.1992A>G (p.Ala664=) c.706A>G c.2343A>G (p.Ala781=) c.2097A>G (p.Ala699=) n.2190A>G c.2081A>G (n.2081A>G) c.2475A>G (p.Ala825=) c.2169A>G (p.Ala723=) c.624A>G c.2677-1067A>G (n.2677-1067A>G) c.2269A>G c.2637A>G (p.Ala879=) n.2575A>G n.9326A>G c.2073A>G (p.Ala691=) c.2685A>G (p.Ala895=) c.1344A>G (p.Ala448=) c.1804A>G (n.1804A>G) c.335A>G c.2070A>G (p.Ala690=) c.2901A>G (p.Ala967=) c.2514A>G (p.Ala838=) c.2724A>G (p.Ala908=) c.2676A>G (p.Ala892=) c.2775A>G (p.Ala925=) c.2385A>G (p.Ala795=) c.2988A>G (p.Ala996=) c.2736A>G (p.Ala912=) c.2499A>G (p.Ala833=) c.1644A>G (p.Ala548=)
1	g.53247048T>G	CA417902714	LRP8	c.2862A>C (p.Ala954=) c.2352A>C (p.Ala784=) c.2496A>C (p.Ala832=) c.1027A>C (n.1027A>C) c.400A>C c.2397A>C (p.Ala799=) c.1583A>C n.2322A>C c.364A>C (p.Ile122Leu) c.1992A>C (p.Ala664=) c.706A>C c.2343A>C (p.Ala781=) c.2097A>C (p.Ala699=) n.2190A>C c.2081A>C (n.2081A>C) c.2475A>C (p.Ala825=) c.2169A>C (p.Ala723=) c.624A>C c.2677-1067A>C (n.2677-1067A>C) c.2269A>C c.2637A>C (p.Ala879=) n.2575A>C n.9326A>C c.2073A>C (p.Ala691=) c.2685A>C (p.Ala895=) c.1344A>C (p.Ala448=) c.1804A>C (n.1804A>C) c.335A>C c.2070A>C (p.Ala690=) c.2901A>C (p.Ala967=) c.2514A>C (p.Ala838=) c.2724A>C (p.Ala908=) c.2676A>C (p.Ala892=) c.2775A>C (p.Ala925=) c.2385A>C (p.Ala795=) c.2988A>C (p.Ala996=) c.2736A>C (p.Ala912=) c.2499A>C (p.Ala833=) c.1644A>C (p.Ala548=)
1	g.53247049G>A	CA340399601	LRP8	c.2861C>T (p.Ala954Val) c.2351C>T (p.Ala784Val) c.2495C>T (p.Ala832Val) c.1026C>T (n.1026C>T) c.399C>T c.2396C>T (p.Ala799Val) c.1582C>T n.2321C>T c.363C>T (p.Gly121=) c.1991C>T (p.Ala664Val) c.705C>T c.2342C>T (p.Ala781Val) c.2096C>T (p.Ala699Val) n.2189C>T c.2080C>T (n.2080C>T) c.2474C>T (p.Ala825Val) c.2168C>T (p.Ala723Val) c.623C>T c.2677-1068C>T (n.2677-1068C>T) c.2268C>T c.2636C>T (p.Ala879Val) n.2574C>T n.9325C>T c.2072C>T (p.Ala691Val) c.2684C>T (p.Ala895Val) c.1343C>T (p.Ala448Val) c.1803C>T (n.1803C>T) c.334C>T c.2069C>T (p.Ala690Val) c.2900C>T (p.Ala967Val) c.2513C>T (p.Ala838Val) c.2723C>T (p.Ala908Val) c.2675C>T (p.Ala892Val) c.2774C>T (p.Ala925Val) c.2384C>T (p.Ala795Val) c.2987C>T (p.Ala996Val) c.2735C>T (p.Ala912Val) c.2498C>T (p.Ala833Val) c.1643C>T (p.Ala548Val)
1	g.53247049G>C	CA340399603	LRP8	c.2861C>G (p.Ala954Gly) c.2351C>G (p.Ala784Gly) c.2495C>G (p.Ala832Gly) c.1026C>G (n.1026C>G) c.399C>G c.2396C>G (p.Ala799Gly) c.1582C>G n.2321C>G c.363C>G (p.Gly121=) c.1991C>G (p.Ala664Gly) c.705C>G c.2342C>G (p.Ala781Gly) c.2096C>G (p.Ala699Gly) n.2189C>G c.2080C>G (n.2080C>G) c.2474C>G (p.Ala825Gly) c.2168C>G (p.Ala723Gly) c.623C>G c.2677-1068C>G (n.2677-1068C>G) c.2268C>G c.2636C>G (p.Ala879Gly) n.2574C>G n.9325C>G c.2072C>G (p.Ala691Gly) c.2684C>G (p.Ala895Gly) c.1343C>G (p.Ala448Gly) c.1803C>G (n.1803C>G) c.334C>G c.2069C>G (p.Ala690Gly) c.2900C>G (p.Ala967Gly) c.2513C>G (p.Ala838Gly) c.2723C>G (p.Ala908Gly) c.2675C>G (p.Ala892Gly) c.2774C>G (p.Ala925Gly) c.2384C>G (p.Ala795Gly) c.2987C>G (p.Ala996Gly) c.2735C>G (p.Ala912Gly) c.2498C>G (p.Ala833Gly) c.1643C>G (p.Ala548Gly)
1	g.53247049G>T	CA340399604	LRP8	c.2861C>A (p.Ala954Glu) c.2351C>A (p.Ala784Glu) c.2495C>A (p.Ala832Glu) c.1026C>A (n.1026C>A) c.399C>A c.2396C>A (p.Ala799Glu) c.1582C>A n.2321C>A c.363C>A (p.Gly121=) c.1991C>A (p.Ala664Glu) c.705C>A c.2342C>A (p.Ala781Glu) c.2096C>A (p.Ala699Glu) n.2189C>A c.2080C>A (n.2080C>A) c.2474C>A (p.Ala825Glu) c.2168C>A (p.Ala723Glu) c.623C>A c.2677-1068C>A (n.2677-1068C>A) c.2268C>A c.2636C>A (p.Ala879Glu) n.2574C>A n.9325C>A c.2072C>A (p.Ala691Glu) c.2684C>A (p.Ala895Glu) c.1343C>A (p.Ala448Glu) c.1803C>A (n.1803C>A) c.334C>A c.2069C>A (p.Ala690Glu) c.2900C>A (p.Ala967Glu) c.2513C>A (p.Ala838Glu) c.2723C>A (p.Ala908Glu) c.2675C>A (p.Ala892Glu) c.2774C>A (p.Ala925Glu) c.2384C>A (p.Ala795Glu) c.2987C>A (p.Ala996Glu) c.2735C>A (p.Ala912Glu) c.2498C>A (p.Ala833Glu) c.1643C>A (p.Ala548Glu)
1	g.53247050C>A	CA340399606	LRP8	c.2860G>T (p.Ala954Ser) c.2350G>T (p.Ala784Ser) c.2494G>T (p.Ala832Ser) c.1025G>T (n.1025G>T) c.398G>T c.2395G>T (p.Ala799Ser) c.1581G>T n.2320G>T c.362G>T (p.Gly121Val) c.1990G>T (p.Ala664Ser) c.704G>T c.2341G>T (p.Ala781Ser) c.2095G>T (p.Ala699Ser) n.2188G>T c.2079G>T (n.2079G>T) c.2473G>T (p.Ala825Ser) c.2167G>T (p.Ala723Ser) c.622G>T c.2677-1069G>T (n.2677-1069G>T) c.2267G>T c.2635G>T (p.Ala879Ser) n.2573G>T n.9324G>T c.2071G>T (p.Ala691Ser) c.2683G>T (p.Ala895Ser) c.1342G>T (p.Ala448Ser) c.1802G>T (n.1802G>T) c.333G>T c.2068G>T (p.Ala690Ser) c.2899G>T (p.Ala967Ser) c.2512G>T (p.Ala838Ser) c.2722G>T (p.Ala908Ser) c.2674G>T (p.Ala892Ser) c.2773G>T (p.Ala925Ser) c.2383G>T (p.Ala795Ser) c.2986G>T (p.Ala996Ser) c.2734G>T (p.Ala912Ser) c.2497G>T (p.Ala833Ser) c.1642G>T (p.Ala548Ser)	gnomAD v4
1	g.53247050C>G	CA340399608	LRP8	c.2860G>C (p.Ala954Pro) c.2350G>C (p.Ala784Pro) c.2494G>C (p.Ala832Pro) c.1025G>C (n.1025G>C) c.398G>C c.2395G>C (p.Ala799Pro) c.1581G>C n.2320G>C c.362G>C (p.Gly121Ala) c.1990G>C (p.Ala664Pro) c.704G>C c.2341G>C (p.Ala781Pro) c.2095G>C (p.Ala699Pro) n.2188G>C c.2079G>C (n.2079G>C) c.2473G>C (p.Ala825Pro) c.2167G>C (p.Ala723Pro) c.622G>C c.2677-1069G>C (n.2677-1069G>C) c.2267G>C c.2635G>C (p.Ala879Pro) n.2573G>C n.9324G>C c.2071G>C (p.Ala691Pro) c.2683G>C (p.Ala895Pro) c.1342G>C (p.Ala448Pro) c.1802G>C (n.1802G>C) c.333G>C c.2068G>C (p.Ala690Pro) c.2899G>C (p.Ala967Pro) c.2512G>C (p.Ala838Pro) c.2722G>C (p.Ala908Pro) c.2674G>C (p.Ala892Pro) c.2773G>C (p.Ala925Pro) c.2383G>C (p.Ala795Pro) c.2986G>C (p.Ala996Pro) c.2734G>C (p.Ala912Pro) c.2497G>C (p.Ala833Pro) c.1642G>C (p.Ala548Pro)
1	g.53247050C>T	CA340399610	LRP8	c.2860G>A (p.Ala954Thr) c.2350G>A (p.Ala784Thr) c.2494G>A (p.Ala832Thr) c.1025G>A (n.1025G>A) c.398G>A c.2395G>A (p.Ala799Thr) c.1581G>A n.2320G>A c.362G>A (p.Gly121Asp) c.1990G>A (p.Ala664Thr) c.704G>A c.2341G>A (p.Ala781Thr) c.2095G>A (p.Ala699Thr) n.2188G>A c.2079G>A (n.2079G>A) c.2473G>A (p.Ala825Thr) c.2167G>A (p.Ala723Thr) c.622G>A c.2677-1069G>A (n.2677-1069G>A) c.2267G>A c.2635G>A (p.Ala879Thr) n.2573G>A n.9324G>A c.2071G>A (p.Ala691Thr) c.2683G>A (p.Ala895Thr) c.1342G>A (p.Ala448Thr) c.1802G>A (n.1802G>A) c.333G>A c.2068G>A (p.Ala690Thr) c.2899G>A (p.Ala967Thr) c.2512G>A (p.Ala838Thr) c.2722G>A (p.Ala908Thr) c.2674G>A (p.Ala892Thr) c.2773G>A (p.Ala925Thr) c.2383G>A (p.Ala795Thr) c.2986G>A (p.Ala996Thr) c.2734G>A (p.Ala912Thr) c.2497G>A (p.Ala833Thr) c.1642G>A (p.Ala548Thr)	gnomAD v4
1	g.53247050_53247051insTTCTCCGACTAATAATTCTGTACGACGAGGATTGT	CA2529697157	LRP8	c.2859_2860insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala954ThrfsTer9) c.2349_2350insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala784ThrfsTer9) c.2493_2494insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala832ThrfsTer9) c.1024_1025insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.1024_1025insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.397_398insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2394_2395insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala799ThrfsTer9) c.1580_1581insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA n.2319_2320insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.361_362insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Gly121AspfsTer23) c.1989_1990insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala664ThrfsTer9) c.703_704insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2340_2341insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala781ThrfsTer9) c.2094_2095insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala699ThrfsTer9) n.2187_2188insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2078_2079insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.2078_2079insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.2472_2473insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala825ThrfsTer9) c.2166_2167insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala723ThrfsTer9) c.621_622insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2677-1070_2677-1069insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.2677-1070_2677-1069insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.2266_2267insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2634_2635insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala879ThrfsTer9) n.2572_2573insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA n.9323_9324insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2070_2071insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala691ThrfsTer9) c.2682_2683insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala895ThrfsTer9) c.1341_1342insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala448ThrfsTer9) c.1801_1802insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.1801_1802insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.332_333insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2067_2068insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala690ThrfsTer9) c.2898_2899insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala967ThrfsTer9) c.2511_2512insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala838ThrfsTer9) c.2721_2722insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala908ThrfsTer9) c.2673_2674insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala892ThrfsTer9) c.2772_2773insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala925ThrfsTer9) c.2382_2383insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala795ThrfsTer9) c.2985_2986insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala996ThrfsTer9) c.2733_2734insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala912ThrfsTer9) c.2496_2497insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala833ThrfsTer9) c.1641_1642insACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala548ThrfsTer9)
1	g.53247050_53247051insTTCTCCGACTAATAATTCTGTACGACGAGGATTGTCGAAACGTTGTTGGATTT	CA2572391465	LRP8	c.2859_2860insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala954LysfsTer15) c.2349_2350insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala784LysfsTer15) c.2493_2494insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala832LysfsTer15) c.1024_1025insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.1024_1025insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.397_398insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2394_2395insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala799LysfsTer15) c.1580_1581insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA n.2319_2320insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.361_362insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Gly121GlufsTer29) c.1989_1990insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala664LysfsTer15) c.703_704insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2340_2341insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala781LysfsTer15) c.2094_2095insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala699LysfsTer15) n.2187_2188insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2078_2079insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.2078_2079insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.2472_2473insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala825LysfsTer15) c.2166_2167insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala723LysfsTer15) c.621_622insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2677-1070_2677-1069insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.2677-1070_2677-1069insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.2266_2267insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2634_2635insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala879LysfsTer15) n.2572_2573insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA n.9323_9324insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2070_2071insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala691LysfsTer15) c.2682_2683insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala895LysfsTer15) c.1341_1342insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala448LysfsTer15) c.1801_1802insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (n.1801_1802insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA) c.332_333insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA c.2067_2068insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala690LysfsTer15) c.2898_2899insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala967LysfsTer15) c.2511_2512insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala838LysfsTer15) c.2721_2722insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala908LysfsTer15) c.2673_2674insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala892LysfsTer15) c.2772_2773insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala925LysfsTer15) c.2382_2383insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala795LysfsTer15) c.2985_2986insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala996LysfsTer15) c.2733_2734insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala912LysfsTer15) c.2496_2497insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala833LysfsTer15) c.1641_1642insAAATCCAACAACGTTTCGACAATCCTCGTCGTACAGAATTATTAGTCGGAGAA (p.Ala548LysfsTer15)
1	g.53247051C>A	CA417902715	LRP8	c.2859G>T (p.Val953=) c.2349G>T (p.Val783=) c.2493G>T (p.Val831=) c.1024G>T (n.1024G>T) c.397G>T c.2394G>T (p.Val798=) c.1580G>T n.2319G>T c.361G>T (p.Gly121Cys) c.1989G>T (p.Val663=) c.703G>T c.2340G>T (p.Val780=) c.2094G>T (p.Val698=) n.2187G>T c.2078G>T (n.2078G>T) c.2472G>T (p.Val824=) c.2166G>T (p.Val722=) c.621G>T c.2677-1070G>T (n.2677-1070G>T) c.2266G>T c.2634G>T (p.Val878=) n.2572G>T n.9323G>T c.2070G>T (p.Val690=) c.2682G>T (p.Val894=) c.1341G>T (p.Val447=) c.1801G>T (n.1801G>T) c.332G>T c.2067G>T (p.Val689=) c.2898G>T (p.Val966=) c.2511G>T (p.Val837=) c.2721G>T (p.Val907=) c.2673G>T (p.Val891=) c.2772G>T (p.Val924=) c.2382G>T (p.Val794=) c.2985G>T (p.Val995=) c.2733G>T (p.Val911=) c.2496G>T (p.Val832=) c.1641G>T (p.Val547=)
1	g.53247051C>G	CA417902716	LRP8	c.2859G>C (p.Val953=) c.2349G>C (p.Val783=) c.2493G>C (p.Val831=) c.1024G>C (n.1024G>C) c.397G>C c.2394G>C (p.Val798=) c.1580G>C n.2319G>C c.361G>C (p.Gly121Arg) c.1989G>C (p.Val663=) c.703G>C c.2340G>C (p.Val780=) c.2094G>C (p.Val698=) n.2187G>C c.2078G>C (n.2078G>C) c.2472G>C (p.Val824=) c.2166G>C (p.Val722=) c.621G>C c.2677-1070G>C (n.2677-1070G>C) c.2266G>C c.2634G>C (p.Val878=) n.2572G>C n.9323G>C c.2070G>C (p.Val690=) c.2682G>C (p.Val894=) c.1341G>C (p.Val447=) c.1801G>C (n.1801G>C) c.332G>C c.2067G>C (p.Val689=) c.2898G>C (p.Val966=) c.2511G>C (p.Val837=) c.2721G>C (p.Val907=) c.2673G>C (p.Val891=) c.2772G>C (p.Val924=) c.2382G>C (p.Val794=) c.2985G>C (p.Val995=) c.2733G>C (p.Val911=) c.2496G>C (p.Val832=) c.1641G>C (p.Val547=)
1	g.53247051C>T	CA417902717	LRP8	c.2859G>A (p.Val953=) c.2349G>A (p.Val783=) c.2493G>A (p.Val831=) c.1024G>A (n.1024G>A) c.397G>A c.2394G>A (p.Val798=) c.1580G>A n.2319G>A c.361G>A (p.Gly121Ser) c.1989G>A (p.Val663=) c.703G>A c.2340G>A (p.Val780=) c.2094G>A (p.Val698=) n.2187G>A c.2078G>A (n.2078G>A) c.2472G>A (p.Val824=) c.2166G>A (p.Val722=) c.621G>A c.2677-1070G>A (n.2677-1070G>A) c.2266G>A c.2634G>A (p.Val878=) n.2572G>A n.9323G>A c.2070G>A (p.Val690=) c.2682G>A (p.Val894=) c.1341G>A (p.Val447=) c.1801G>A (n.1801G>A) c.332G>A c.2067G>A (p.Val689=) c.2898G>A (p.Val966=) c.2511G>A (p.Val837=) c.2721G>A (p.Val907=) c.2673G>A (p.Val891=) c.2772G>A (p.Val924=) c.2382G>A (p.Val794=) c.2985G>A (p.Val995=) c.2733G>A (p.Val911=) c.2496G>A (p.Val832=) c.1641G>A (p.Val547=)
1	g.53247052A>C	CA340399615	LRP8	c.2858T>G (p.Val953Gly) c.2348T>G (p.Val783Gly) c.2492T>G (p.Val831Gly) c.1023T>G (n.1023T>G) c.396T>G c.2393T>G (p.Val798Gly) c.1579T>G n.2318T>G c.360T>G (p.Ser120Arg) c.1988T>G (p.Val663Gly) c.702T>G c.2339T>G (p.Val780Gly) c.2093T>G (p.Val698Gly) n.2186T>G c.2077T>G (n.2077T>G) c.2471T>G (p.Val824Gly) c.2165T>G (p.Val722Gly) c.620T>G c.2677-1071T>G (n.2677-1071T>G) c.2265T>G c.2633T>G (p.Val878Gly) n.2571T>G n.9322T>G c.2069T>G (p.Val690Gly) c.2681T>G (p.Val894Gly) c.1340T>G (p.Val447Gly) c.1800T>G (n.1800T>G) c.331T>G c.2066T>G (p.Val689Gly) c.2897T>G (p.Val966Gly) c.2510T>G (p.Val837Gly) c.2720T>G (p.Val907Gly) c.2672T>G (p.Val891Gly) c.2771T>G (p.Val924Gly) c.2381T>G (p.Val794Gly) c.2984T>G (p.Val995Gly) c.2732T>G (p.Val911Gly) c.2495T>G (p.Val832Gly) c.1640T>G (p.Val547Gly)
1	g.53247052A>G	CA340399616	LRP8	c.2858T>C (p.Val953Ala) c.2348T>C (p.Val783Ala) c.2492T>C (p.Val831Ala) c.1023T>C (n.1023T>C) c.396T>C c.2393T>C (p.Val798Ala) c.1579T>C n.2318T>C c.360T>C (p.Ser120=) c.1988T>C (p.Val663Ala) c.702T>C c.2339T>C (p.Val780Ala) c.2093T>C (p.Val698Ala) n.2186T>C c.2077T>C (n.2077T>C) c.2471T>C (p.Val824Ala) c.2165T>C (p.Val722Ala) c.620T>C c.2677-1071T>C (n.2677-1071T>C) c.2265T>C c.2633T>C (p.Val878Ala) n.2571T>C n.9322T>C c.2069T>C (p.Val690Ala) c.2681T>C (p.Val894Ala) c.1340T>C (p.Val447Ala) c.1800T>C (n.1800T>C) c.331T>C c.2066T>C (p.Val689Ala) c.2897T>C (p.Val966Ala) c.2510T>C (p.Val837Ala) c.2720T>C (p.Val907Ala) c.2672T>C (p.Val891Ala) c.2771T>C (p.Val924Ala) c.2381T>C (p.Val794Ala) c.2984T>C (p.Val995Ala) c.2732T>C (p.Val911Ala) c.2495T>C (p.Val832Ala) c.1640T>C (p.Val547Ala)
1	g.53247052A>T	CA340399612	LRP8	c.2858T>A (p.Val953Glu) c.2348T>A (p.Val783Glu) c.2492T>A (p.Val831Glu) c.1023T>A (n.1023T>A) c.396T>A c.2393T>A (p.Val798Glu) c.1579T>A n.2318T>A c.360T>A (p.Ser120Arg) c.1988T>A (p.Val663Glu) c.702T>A c.2339T>A (p.Val780Glu) c.2093T>A (p.Val698Glu) n.2186T>A c.2077T>A (n.2077T>A) c.2471T>A (p.Val824Glu) c.2165T>A (p.Val722Glu) c.620T>A c.2677-1071T>A (n.2677-1071T>A) c.2265T>A c.2633T>A (p.Val878Glu) n.2571T>A n.9322T>A c.2069T>A (p.Val690Glu) c.2681T>A (p.Val894Glu) c.1340T>A (p.Val447Glu) c.1800T>A (n.1800T>A) c.331T>A c.2066T>A (p.Val689Glu) c.2897T>A (p.Val966Glu) c.2510T>A (p.Val837Glu) c.2720T>A (p.Val907Glu) c.2672T>A (p.Val891Glu) c.2771T>A (p.Val924Glu) c.2381T>A (p.Val794Glu) c.2984T>A (p.Val995Glu) c.2732T>A (p.Val911Glu) c.2495T>A (p.Val832Glu) c.1640T>A (p.Val547Glu)
1	g.53247052_53247053insAGAAG	CA2499318290	LRP8	c.2857_2858insCTTCT (p.Val953AlafsTer5) c.2347_2348insCTTCT (p.Val783AlafsTer5) c.2491_2492insCTTCT (p.Val831AlafsTer5) c.1022_1023insCTTCT (n.1022_1023insCTTCT) c.395_396insCTTCT c.2392_2393insCTTCT (p.Val798AlafsTer5) c.1578_1579insCTTCT n.2317_2318insCTTCT c.359_360insCTTCT (p.Gly121PhefsTer13) c.1987_1988insCTTCT (p.Val663AlafsTer5) c.701_702insCTTCT c.2338_2339insCTTCT (p.Val780AlafsTer5) c.2092_2093insCTTCT (p.Val698AlafsTer5) n.2185_2186insCTTCT c.2076_2077insCTTCT (n.2076_2077insCTTCT) c.2470_2471insCTTCT (p.Val824AlafsTer5) c.2164_2165insCTTCT (p.Val722AlafsTer5) c.619_620insCTTCT c.2677-1072_2677-1071insCTTCT (n.2677-1072_2677-1071insCTTCT) c.2264_2265insCTTCT c.2632_2633insCTTCT (p.Val878AlafsTer5) n.2570_2571insCTTCT n.9321_9322insCTTCT c.2068_2069insCTTCT (p.Val690AlafsTer5) c.2680_2681insCTTCT (p.Val894AlafsTer5) c.1339_1340insCTTCT (p.Val447AlafsTer5) c.1799_1800insCTTCT (n.1799_1800insCTTCT) c.330_331insCTTCT c.2065_2066insCTTCT (p.Val689AlafsTer5) c.2896_2897insCTTCT (p.Val966AlafsTer5) c.2509_2510insCTTCT (p.Val837AlafsTer5) c.2719_2720insCTTCT (p.Val907AlafsTer5) c.2671_2672insCTTCT (p.Val891AlafsTer5) c.2770_2771insCTTCT (p.Val924AlafsTer5) c.2380_2381insCTTCT (p.Val794AlafsTer5) c.2983_2984insCTTCT (p.Val995AlafsTer5) c.2731_2732insCTTCT (p.Val911AlafsTer5) c.2494_2495insCTTCT (p.Val832AlafsTer5) c.1639_1640insCTTCT (p.Val547AlafsTer5)
1	g.53247052_53247053insAAACGTTGTTGGATTTCAAGAAG	CA2504598689	LRP8	c.2857_2858insCTTCTTGAAATCCAACAACGTTT (p.Val953AlafsTer3) c.2347_2348insCTTCTTGAAATCCAACAACGTTT (p.Val783AlafsTer3) c.2491_2492insCTTCTTGAAATCCAACAACGTTT (p.Val831AlafsTer3) c.1022_1023insCTTCTTGAAATCCAACAACGTTT (n.1022_1023insCTTCTTGAAATCCAACAACGTTT) c.395_396insCTTCTTGAAATCCAACAACGTTT c.2392_2393insCTTCTTGAAATCCAACAACGTTT (p.Val798AlafsTer3) c.1578_1579insCTTCTTGAAATCCAACAACGTTT n.2317_2318insCTTCTTGAAATCCAACAACGTTT c.359_360insCTTCTTGAAATCCAACAACGTTT (p.Gly121PhefsTer19) c.1987_1988insCTTCTTGAAATCCAACAACGTTT (p.Val663AlafsTer3) c.701_702insCTTCTTGAAATCCAACAACGTTT c.2338_2339insCTTCTTGAAATCCAACAACGTTT (p.Val780AlafsTer3) c.2092_2093insCTTCTTGAAATCCAACAACGTTT (p.Val698AlafsTer3) n.2185_2186insCTTCTTGAAATCCAACAACGTTT c.2076_2077insCTTCTTGAAATCCAACAACGTTT (n.2076_2077insCTTCTTGAAATCCAACAACGTTT) c.2470_2471insCTTCTTGAAATCCAACAACGTTT (p.Val824AlafsTer3) c.2164_2165insCTTCTTGAAATCCAACAACGTTT (p.Val722AlafsTer3) c.619_620insCTTCTTGAAATCCAACAACGTTT c.2677-1072_2677-1071insCTTCTTGAAATCCAACAACGTTT (n.2677-1072_2677-1071insCTTCTTGAAATCCAACAACGTTT) c.2264_2265insCTTCTTGAAATCCAACAACGTTT c.2632_2633insCTTCTTGAAATCCAACAACGTTT (p.Val878AlafsTer3) n.2570_2571insCTTCTTGAAATCCAACAACGTTT n.9321_9322insCTTCTTGAAATCCAACAACGTTT c.2068_2069insCTTCTTGAAATCCAACAACGTTT (p.Val690AlafsTer3) c.2680_2681insCTTCTTGAAATCCAACAACGTTT (p.Val894AlafsTer3) c.1339_1340insCTTCTTGAAATCCAACAACGTTT (p.Val447AlafsTer3) c.1799_1800insCTTCTTGAAATCCAACAACGTTT (n.1799_1800insCTTCTTGAAATCCAACAACGTTT) c.330_331insCTTCTTGAAATCCAACAACGTTT c.2065_2066insCTTCTTGAAATCCAACAACGTTT (p.Val689AlafsTer3) c.2896_2897insCTTCTTGAAATCCAACAACGTTT (p.Val966AlafsTer3) c.2509_2510insCTTCTTGAAATCCAACAACGTTT (p.Val837AlafsTer3) c.2719_2720insCTTCTTGAAATCCAACAACGTTT (p.Val907AlafsTer3) c.2671_2672insCTTCTTGAAATCCAACAACGTTT (p.Val891AlafsTer3) c.2770_2771insCTTCTTGAAATCCAACAACGTTT (p.Val924AlafsTer3) c.2380_2381insCTTCTTGAAATCCAACAACGTTT (p.Val794AlafsTer3) c.2983_2984insCTTCTTGAAATCCAACAACGTTT (p.Val995AlafsTer3) c.2731_2732insCTTCTTGAAATCCAACAACGTTT (p.Val911AlafsTer3) c.2494_2495insCTTCTTGAAATCCAACAACGTTT (p.Val832AlafsTer3) c.1639_1640insCTTCTTGAAATCCAACAACGTTT (p.Val547AlafsTer3)
1	g.53247053C>A	CA340399619	LRP8	c.2857G>T (p.Val953Leu) c.2347G>T (p.Val783Leu) c.2491G>T (p.Val831Leu) c.1022G>T (n.1022G>T) c.395G>T c.2392G>T (p.Val798Leu) c.1578G>T n.2317G>T c.359G>T (p.Ser120Ile) c.1987G>T (p.Val663Leu) c.701G>T c.2338G>T (p.Val780Leu) c.2092G>T (p.Val698Leu) n.2185G>T c.2076G>T (n.2076G>T) c.2470G>T (p.Val824Leu) c.2164G>T (p.Val722Leu) c.619G>T c.2677-1072G>T (n.2677-1072G>T) c.2264G>T c.2632G>T (p.Val878Leu) n.2570G>T n.9321G>T c.2068G>T (p.Val690Leu) c.2680G>T (p.Val894Leu) c.1339G>T (p.Val447Leu) c.1799G>T (n.1799G>T) c.330G>T c.2065G>T (p.Val689Leu) c.2896G>T (p.Val966Leu) c.2509G>T (p.Val837Leu) c.2719G>T (p.Val907Leu) c.2671G>T (p.Val891Leu) c.2770G>T (p.Val924Leu) c.2380G>T (p.Val794Leu) c.2983G>T (p.Val995Leu) c.2731G>T (p.Val911Leu) c.2494G>T (p.Val832Leu) c.1639G>T (p.Val547Leu)
1	g.53247053C=	CA1167228782	LRP8	c.2857G= (p.Val953=) c.2347G= (p.Val783=) c.2491G= (p.Val831=) c.1022G= (n.1022G=) c.395G= c.2392G= (p.Val798=) c.1578G= n.2317G= c.359G= (p.Ser120=) c.1987G= (p.Val663=) c.701G= c.2338G= (p.Val780=) c.2092G= (p.Val698=) n.2185G= c.2076G= (n.2076G=) c.2470G= (p.Val824=) c.2164G= (p.Val722=) c.619G= c.2677-1072G= (n.2677-1072G=) c.2264G= c.2632G= (p.Val878=) n.2570G= n.9321G= c.2068G= (p.Val690=) c.2680G= (p.Val894=) c.1339G= (p.Val447=) c.1799G= (n.1799G=) c.330G= c.2065G= (p.Val689=) c.2896G= (p.Val966=) c.2509G= (p.Val837=) c.2719G= (p.Val907=) c.2671G= (p.Val891=) c.2770G= (p.Val924=) c.2380G= (p.Val794=) c.2983G= (p.Val995=) c.2731G= (p.Val911=) c.2494G= (p.Val832=) c.1639G= (p.Val547=)
1	g.53247053C>G	CA340399621	LRP8	c.2857G>C (p.Val953Leu) c.2347G>C (p.Val783Leu) c.2491G>C (p.Val831Leu) c.1022G>C (n.1022G>C) c.395G>C c.2392G>C (p.Val798Leu) c.1578G>C n.2317G>C c.359G>C (p.Ser120Thr) c.1987G>C (p.Val663Leu) c.701G>C c.2338G>C (p.Val780Leu) c.2092G>C (p.Val698Leu) n.2185G>C c.2076G>C (n.2076G>C) c.2470G>C (p.Val824Leu) c.2164G>C (p.Val722Leu) c.619G>C c.2677-1072G>C (n.2677-1072G>C) c.2264G>C c.2632G>C (p.Val878Leu) n.2570G>C n.9321G>C c.2068G>C (p.Val690Leu) c.2680G>C (p.Val894Leu) c.1339G>C (p.Val447Leu) c.1799G>C (n.1799G>C) c.330G>C c.2065G>C (p.Val689Leu) c.2896G>C (p.Val966Leu) c.2509G>C (p.Val837Leu) c.2719G>C (p.Val907Leu) c.2671G>C (p.Val891Leu) c.2770G>C (p.Val924Leu) c.2380G>C (p.Val794Leu) c.2983G>C (p.Val995Leu) c.2731G>C (p.Val911Leu) c.2494G>C (p.Val832Leu) c.1639G>C (p.Val547Leu)	dbSNP gnomAD v3 gnomAD v4
1	g.53247053C>T	CA340399622	LRP8	c.2857G>A (p.Val953Met) c.2347G>A (p.Val783Met) c.2491G>A (p.Val831Met) c.1022G>A (n.1022G>A) c.395G>A c.2392G>A (p.Val798Met) c.1578G>A n.2317G>A c.359G>A (p.Ser120Asn) c.1987G>A (p.Val663Met) c.701G>A c.2338G>A (p.Val780Met) c.2092G>A (p.Val698Met) n.2185G>A c.2076G>A (n.2076G>A) c.2470G>A (p.Val824Met) c.2164G>A (p.Val722Met) c.619G>A c.2677-1072G>A (n.2677-1072G>A) c.2264G>A c.2632G>A (p.Val878Met) n.2570G>A n.9321G>A c.2068G>A (p.Val690Met) c.2680G>A (p.Val894Met) c.1339G>A (p.Val447Met) c.1799G>A (n.1799G>A) c.330G>A c.2065G>A (p.Val689Met) c.2896G>A (p.Val966Met) c.2509G>A (p.Val837Met) c.2719G>A (p.Val907Met) c.2671G>A (p.Val891Met) c.2770G>A (p.Val924Met) c.2380G>A (p.Val794Met) c.2983G>A (p.Val995Met) c.2731G>A (p.Val911Met) c.2494G>A (p.Val832Met) c.1639G>A (p.Val547Met)	gnomAD v4
1	g.53247053_53247054insG	CA2573320229	LRP8	c.2856_2857insC (p.Val953ArgfsTer6) c.2346_2347insC (p.Val783ArgfsTer6) c.2490_2491insC (p.Val831ArgfsTer6) c.1021_1022insC (n.1021_1022insC) c.394_395insC c.2391_2392insC (p.Val798ArgfsTer6) c.1577_1578insC n.2316_2317insC c.358_359insC (p.Ser120ThrfsTer4) c.1986_1987insC (p.Val663ArgfsTer6) c.700_701insC c.2337_2338insC (p.Val780ArgfsTer6) c.2091_2092insC (p.Val698ArgfsTer6) n.2184_2185insC c.2075_2076insC (n.2075_2076insC) c.2469_2470insC (p.Val824ArgfsTer6) c.2163_2164insC (p.Val722ArgfsTer6) c.618_619insC c.2677-1073_2677-1072insC (n.2677-1073_2677-1072insC) c.2263_2264insC c.2631_2632insC (p.Val878ArgfsTer6) n.2569_2570insC n.9320_9321insC c.2067_2068insC (p.Val690ArgfsTer6) c.2679_2680insC (p.Val894ArgfsTer6) c.1338_1339insC (p.Val447ArgfsTer6) c.1798_1799insC (n.1798_1799insC) c.329_330insC c.2064_2065insC (p.Val689ArgfsTer6) c.2895_2896insC (p.Val966ArgfsTer6) c.2508_2509insC (p.Val837ArgfsTer6) c.2718_2719insC (p.Val907ArgfsTer6) c.2670_2671insC (p.Val891ArgfsTer6) c.2769_2770insC (p.Val924ArgfsTer6) c.2379_2380insC (p.Val794ArgfsTer6) c.2982_2983insC (p.Val995ArgfsTer6) c.2730_2731insC (p.Val911ArgfsTer6) c.2493_2494insC (p.Val832ArgfsTer6) c.1638_1639insC (p.Val547ArgfsTer6)
1	g.53247054T>A	CA417902718	LRP8	c.2856A>T (p.Arg952=) c.2346A>T (p.Arg782=) c.2490A>T (p.Arg830=) c.1021A>T (n.1021A>T) c.394A>T c.2391A>T (p.Arg797=) c.1577A>T n.2316A>T c.358A>T (p.Ser120Cys) c.1986A>T (p.Arg662=) c.700A>T c.2337A>T (p.Arg779=) c.2091A>T (p.Arg697=) n.2184A>T c.2075A>T (n.2075A>T) c.2469A>T (p.Arg823=) c.2163A>T (p.Arg721=) c.618A>T c.2677-1073A>T (n.2677-1073A>T) c.2263A>T c.2631A>T (p.Arg877=) n.2569A>T n.9320A>T c.2067A>T (p.Arg689=) c.2679A>T (p.Arg893=) c.1338A>T (p.Arg446=) c.1798A>T (n.1798A>T) c.329A>T c.2064A>T (p.Arg688=) c.2895A>T (p.Arg965=) c.2508A>T (p.Arg836=) c.2718A>T (p.Arg906=) c.2670A>T (p.Arg890=) c.2769A>T (p.Arg923=) c.2379A>T (p.Arg793=) c.2982A>T (p.Arg994=) c.2730A>T (p.Arg910=) c.2493A>T (p.Arg831=) c.1638A>T (p.Arg546=)
1	g.53247054T>C	CA417902719	LRP8	c.2856A>G (p.Arg952=) c.2346A>G (p.Arg782=) c.2490A>G (p.Arg830=) c.1021A>G (n.1021A>G) c.394A>G c.2391A>G (p.Arg797=) c.1577A>G n.2316A>G c.358A>G (p.Ser120Gly) c.1986A>G (p.Arg662=) c.700A>G c.2337A>G (p.Arg779=) c.2091A>G (p.Arg697=) n.2184A>G c.2075A>G (n.2075A>G) c.2469A>G (p.Arg823=) c.2163A>G (p.Arg721=) c.618A>G c.2677-1073A>G (n.2677-1073A>G) c.2263A>G c.2631A>G (p.Arg877=) n.2569A>G n.9320A>G c.2067A>G (p.Arg689=) c.2679A>G (p.Arg893=) c.1338A>G (p.Arg446=) c.1798A>G (n.1798A>G) c.329A>G c.2064A>G (p.Arg688=) c.2895A>G (p.Arg965=) c.2508A>G (p.Arg836=) c.2718A>G (p.Arg906=) c.2670A>G (p.Arg890=) c.2769A>G (p.Arg923=) c.2379A>G (p.Arg793=) c.2982A>G (p.Arg994=) c.2730A>G (p.Arg910=) c.2493A>G (p.Arg831=) c.1638A>G (p.Arg546=)
1	g.53247054T>G	CA417902720	LRP8	c.2856A>C (p.Arg952=) c.2346A>C (p.Arg782=) c.2490A>C (p.Arg830=) c.1021A>C (n.1021A>C) c.394A>C c.2391A>C (p.Arg797=) c.1577A>C n.2316A>C c.358A>C (p.Ser120Arg) c.1986A>C (p.Arg662=) c.700A>C c.2337A>C (p.Arg779=) c.2091A>C (p.Arg697=) n.2184A>C c.2075A>C (n.2075A>C) c.2469A>C (p.Arg823=) c.2163A>C (p.Arg721=) c.618A>C c.2677-1073A>C (n.2677-1073A>C) c.2263A>C c.2631A>C (p.Arg877=) n.2569A>C n.9320A>C c.2067A>C (p.Arg689=) c.2679A>C (p.Arg893=) c.1338A>C (p.Arg446=) c.1798A>C (n.1798A>C) c.329A>C c.2064A>C (p.Arg688=) c.2895A>C (p.Arg965=) c.2508A>C (p.Arg836=) c.2718A>C (p.Arg906=) c.2670A>C (p.Arg890=) c.2769A>C (p.Arg923=) c.2379A>C (p.Arg793=) c.2982A>C (p.Arg994=) c.2730A>C (p.Arg910=) c.2493A>C (p.Arg831=) c.1638A>C (p.Arg546=)
1	g.53247054dup	CA2573320228	LRP8	c.2856dup (p.Val953SerfsTer6) c.2346dup (p.Val783SerfsTer6) c.2490dup (p.Val831SerfsTer6) c.1021dup (n.1021dup) c.394dup c.2391dup (p.Val798SerfsTer6) c.1577dup n.2316dup c.358dup (p.Ser120LysfsTer4) c.1986dup (p.Val663SerfsTer6) c.700dup c.2337dup (p.Val780SerfsTer6) c.2091dup (p.Val698SerfsTer6) n.2184dup c.2075dup (n.2075dup) c.2469dup (p.Val824SerfsTer6) c.2163dup (p.Val722SerfsTer6) c.618dup c.2677-1073dup (n.2677-1073dup) c.2263dup c.2631dup (p.Val878SerfsTer6) n.2569dup n.9320dup c.2067dup (p.Val690SerfsTer6) c.2679dup (p.Val894SerfsTer6) c.1338dup (p.Val447SerfsTer6) c.1798dup (n.1798dup) c.329dup c.2064dup (p.Val689SerfsTer6) c.2895dup (p.Val966SerfsTer6) c.2508dup (p.Val837SerfsTer6) c.2718dup (p.Val907SerfsTer6) c.2670dup (p.Val891SerfsTer6) c.2769dup (p.Val924SerfsTer6) c.2379dup (p.Val794SerfsTer6) c.2982dup (p.Val995SerfsTer6) c.2730dup (p.Val911SerfsTer6) c.2493dup (p.Val832SerfsTer6) c.1638dup (p.Val547SerfsTer6)
1	g.53247054_53247055insA	CA2573320348	LRP8	c.2855_2856insT (p.Val953SerfsTer6) c.2345_2346insT (p.Val783SerfsTer6) c.2489_2490insT (p.Val831SerfsTer6) c.1020_1021insT (n.1020_1021insT) c.393_394insT c.2390_2391insT (p.Val798SerfsTer6) c.1576_1577insT n.2315_2316insT c.357_358insT (p.Ser120Ter) c.1985_1986insT (p.Val663SerfsTer6) c.699_700insT c.2336_2337insT (p.Val780SerfsTer6) c.2090_2091insT (p.Val698SerfsTer6) n.2183_2184insT c.2074_2075insT (n.2074_2075insT) c.2468_2469insT (p.Val824SerfsTer6) c.2162_2163insT (p.Val722SerfsTer6) c.617_618insT c.2677-1074_2677-1073insT (n.2677-1074_2677-1073insT) c.2262_2263insT c.2630_2631insT (p.Val878SerfsTer6) n.2568_2569insT n.9319_9320insT c.2066_2067insT (p.Val690SerfsTer6) c.2678_2679insT (p.Val894SerfsTer6) c.1337_1338insT (p.Val447SerfsTer6) c.1797_1798insT (n.1797_1798insT) c.328_329insT c.2063_2064insT (p.Val689SerfsTer6) c.2894_2895insT (p.Val966SerfsTer6) c.2507_2508insT (p.Val837SerfsTer6) c.2717_2718insT (p.Val907SerfsTer6) c.2669_2670insT (p.Val891SerfsTer6) c.2768_2769insT (p.Val924SerfsTer6) c.2378_2379insT (p.Val794SerfsTer6) c.2981_2982insT (p.Val995SerfsTer6) c.2729_2730insT (p.Val911SerfsTer6) c.2492_2493insT (p.Val832SerfsTer6) c.1637_1638insT (p.Val547SerfsTer6)
1	g.53247055C>A	CA340399626	LRP8	c.2855G>T (p.Arg952Leu) c.2345G>T (p.Arg782Leu) c.2489G>T (p.Arg830Leu) c.1020G>T (n.1020G>T) c.393G>T c.2390G>T (p.Arg797Leu) c.1576G>T n.2315G>T c.357G>T (p.Ala119=) c.1985G>T (p.Arg662Leu) c.699G>T c.2336G>T (p.Arg779Leu) c.2090G>T (p.Arg697Leu) n.2183G>T c.2074G>T (n.2074G>T) c.2468G>T (p.Arg823Leu) c.2162G>T (p.Arg721Leu) c.617G>T c.2677-1074G>T (n.2677-1074G>T) c.2262G>T c.2630G>T (p.Arg877Leu) n.2568G>T n.9319G>T c.2066G>T (p.Arg689Leu) c.2678G>T (p.Arg893Leu) c.1337G>T (p.Arg446Leu) c.1797G>T (n.1797G>T) c.328G>T c.2063G>T (p.Arg688Leu) c.2894G>T (p.Arg965Leu) c.2507G>T (p.Arg836Leu) c.2717G>T (p.Arg906Leu) c.2669G>T (p.Arg890Leu) c.2768G>T (p.Arg923Leu) c.2378G>T (p.Arg793Leu) c.2981G>T (p.Arg994Leu) c.2729G>T (p.Arg910Leu) c.2492G>T (p.Arg831Leu) c.1637G>T (p.Arg546Leu)	dbSNP gnomAD v4
1	g.53247055C=	CA1139772927	LRP8	c.2855G= (p.Arg952=) c.2345G= (p.Arg782=) c.2489G= (p.Arg830=) c.1020G= (n.1020G=) c.393G= c.2390G= (p.Arg797=) c.1576G= n.2315G= c.357G= (p.Ala119=) c.1985G= (p.Arg662=) c.699G= c.2336G= (p.Arg779=) c.2090G= (p.Arg697=) n.2183G= c.2074G= (n.2074G=) c.2468G= (p.Arg823=) c.2162G= (p.Arg721=) c.617G= c.2677-1074G= (n.2677-1074G=) c.2262G= c.2630G= (p.Arg877=) n.2568G= n.9319G= c.2066G= (p.Arg689=) c.2678G= (p.Arg893=) c.1337G= (p.Arg446=) c.1797G= (n.1797G=) c.328G= c.2063G= (p.Arg688=) c.2894G= (p.Arg965=) c.2507G= (p.Arg836=) c.2717G= (p.Arg906=) c.2669G= (p.Arg890=) c.2768G= (p.Arg923=) c.2378G= (p.Arg793=) c.2981G= (p.Arg994=) c.2729G= (p.Arg910=) c.2492G= (p.Arg831=) c.1637G= (p.Arg546=)
1	g.53247055C>G	CA340399627	LRP8	c.2855G>C (p.Arg952Pro) c.2345G>C (p.Arg782Pro) c.2489G>C (p.Arg830Pro) c.1020G>C (n.1020G>C) c.393G>C c.2390G>C (p.Arg797Pro) c.1576G>C n.2315G>C c.357G>C (p.Ala119=) c.1985G>C (p.Arg662Pro) c.699G>C c.2336G>C (p.Arg779Pro) c.2090G>C (p.Arg697Pro) n.2183G>C c.2074G>C (n.2074G>C) c.2468G>C (p.Arg823Pro) c.2162G>C (p.Arg721Pro) c.617G>C c.2677-1074G>C (n.2677-1074G>C) c.2262G>C c.2630G>C (p.Arg877Pro) n.2568G>C n.9319G>C c.2066G>C (p.Arg689Pro) c.2678G>C (p.Arg893Pro) c.1337G>C (p.Arg446Pro) c.1797G>C (n.1797G>C) c.328G>C c.2063G>C (p.Arg688Pro) c.2894G>C (p.Arg965Pro) c.2507G>C (p.Arg836Pro) c.2717G>C (p.Arg906Pro) c.2669G>C (p.Arg890Pro) c.2768G>C (p.Arg923Pro) c.2378G>C (p.Arg793Pro) c.2981G>C (p.Arg994Pro) c.2729G>C (p.Arg910Pro) c.2492G>C (p.Arg831Pro) c.1637G>C (p.Arg546Pro)	dbSNP
1	g.53247055C>T	CA118585	LRP8	c.2855G>A (p.Arg952Gln) c.2345G>A (p.Arg782Gln) c.2489G>A (p.Arg830Gln) c.1020G>A (n.1020G>A) c.393G>A c.2390G>A (p.Arg797Gln) c.1576G>A n.2315G>A c.357G>A (p.Ala119=) c.1985G>A (p.Arg662Gln) c.699G>A c.2336G>A (p.Arg779Gln) c.2090G>A (p.Arg697Gln) n.2183G>A c.2074G>A (n.2074G>A) c.2468G>A (p.Arg823Gln) c.2162G>A (p.Arg721Gln) c.617G>A c.2677-1074G>A (n.2677-1074G>A) c.2262G>A c.2630G>A (p.Arg877Gln) n.2568G>A n.9319G>A c.2066G>A (p.Arg689Gln) c.2678G>A (p.Arg893Gln) c.1337G>A (p.Arg446Gln) c.1797G>A (n.1797G>A) c.328G>A c.2063G>A (p.Arg688Gln) c.2894G>A (p.Arg965Gln) c.2507G>A (p.Arg836Gln) c.2717G>A (p.Arg906Gln) c.2669G>A (p.Arg890Gln) c.2768G>A (p.Arg923Gln) c.2378G>A (p.Arg793Gln) c.2981G>A (p.Arg994Gln) c.2729G>A (p.Arg910Gln) c.2492G>A (p.Arg831Gln) c.1637G>A (p.Arg546Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.53247055dup	CA1139532231	LRP8	c.2855dup (p.Val953SerfsTer6) c.2345dup (p.Val783SerfsTer6) c.2489dup (p.Val831SerfsTer6) c.1020dup (n.1020dup) c.393dup c.2390dup (p.Val798SerfsTer6) c.1576dup n.2315dup c.357dup (p.Ser120GlufsTer4) c.1985dup (p.Val663SerfsTer6) c.699dup c.2336dup (p.Val780SerfsTer6) c.2090dup (p.Val698SerfsTer6) n.2183dup c.2074dup (n.2074dup) c.2468dup (p.Val824SerfsTer6) c.2162dup (p.Val722SerfsTer6) c.617dup c.2677-1074dup (n.2677-1074dup) c.2262dup c.2630dup (p.Val878SerfsTer6) n.2568dup n.9319dup c.2066dup (p.Val690SerfsTer6) c.2678dup (p.Val894SerfsTer6) c.1337dup (p.Val447SerfsTer6) c.1797dup (n.1797dup) c.328dup c.2063dup (p.Val689SerfsTer6) c.2894dup (p.Val966SerfsTer6) c.2507dup (p.Val837SerfsTer6) c.2717dup (p.Val907SerfsTer6) c.2669dup (p.Val891SerfsTer6) c.2768dup (p.Val924SerfsTer6) c.2378dup (p.Val794SerfsTer6) c.2981dup (p.Val995SerfsTer6) c.2729dup (p.Val911SerfsTer6) c.2492dup (p.Val832SerfsTer6) c.1637dup (p.Val547SerfsTer6)

Number of alleles fetched