Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.11123595_11132129del	CA250473	LDLR	c.2569+251_813del c.380+251_1465del c.2191+251_813del c.2311+251_813del c.2565+251_3650del c.2188+251_813del c.1807+251_813del c.1777+251_813del c.1930+251_*813del n.2645+251_3730del n.2288+251_3373del	ClinVar
19	g.11125285_11132532dup	CA10585823	LDLR	c.2569+1941_1216dup c.380+1941_1868dup c.2191+1941_1216dup c.2311+1941_1216dup c.2565+1941_4053dup c.2188+1941_1216dup c.1807+1941_1216dup c.1777+1941_1216dup c.1930+1941_*1216dup n.2645+1941_4133dup n.2288+1941_3776dup
19	g.11127453_11132598del	CA2573050624	LDLR	c.2570-555_1282del c.381-555_1934del c.2192-555_1282del c.2312-555_1282del c.2566-555_4119del c.2189-555_1282del c.1808-555_1282del c.1778-555_1282del c.2312-2060_1282del c.1931-555_1282del n.2646-555_4199del n.2289-555_3842del
19	g.11128007_11133830del	CA658824396	LDLR	c.2312-1_2514del c.2189-1_2514del c.1808-1_2514del c.1778-1_2514del	ClinVar
19	g.11128008_11131316del	CA2695202621	LDLR	c.2570_2841del c.381_652del c.2192_2463del c.2312_2583del c.2566_2837del c.1808_2079del c.2189_2460del c.1778_2049del c.2312_2645del c.2312_2577del n.108+354_109-1779del c.2312-1505_2505del c.1931_2202del n.2646_2917del n.2289_2560del
19	g.11129502T>A	CA404098101	LDLR	c.2648-11T>A (n.2648-11T>A) c.459-11T>A (n.459-11T>A) c.2270-11T>A (n.2270-11T>A) c.2390-11T>A (n.2390-11T>A) c.2644-11T>A c.1886-11T>A (n.1886-11T>A) c.2267-11T>A (n.2267-11T>A) c.1856-11T>A (n.1856-11T>A) c.2441T>A (p.Leu814His) n.108+1848T>A c.2312-11T>A (n.2312-11T>A) c.2009-11T>A (n.2009-11T>A) n.2400-11T>A n.2724-11T>A n.2367-11T>A
19	g.11129502T>C	CA404098103	LDLR	c.2648-11T>C (n.2648-11T>C) c.459-11T>C (n.459-11T>C) c.2270-11T>C (n.2270-11T>C) c.2390-11T>C (n.2390-11T>C) c.2644-11T>C c.1886-11T>C (n.1886-11T>C) c.2267-11T>C (n.2267-11T>C) c.1856-11T>C (n.1856-11T>C) c.2441T>C (p.Leu814Pro) n.108+1848T>C c.2312-11T>C (n.2312-11T>C) c.2009-11T>C (n.2009-11T>C) n.2400-11T>C n.2724-11T>C n.2367-11T>C
19	g.11129502T>G	CA404098106	LDLR	c.2648-11T>G (n.2648-11T>G) c.459-11T>G (n.459-11T>G) c.2270-11T>G (n.2270-11T>G) c.2390-11T>G (n.2390-11T>G) c.2644-11T>G c.1886-11T>G (n.1886-11T>G) c.2267-11T>G (n.2267-11T>G) c.1856-11T>G (n.1856-11T>G) c.2441T>G (p.Leu814Arg) n.108+1848T>G c.2312-11T>G (n.2312-11T>G) c.2009-11T>G (n.2009-11T>G) n.2400-11T>G n.2724-11T>G n.2367-11T>G
19	g.11129503C=	CA2322780232	LDLR	c.2648-10C= (n.2648-10C=) c.459-10C= (n.459-10C=) c.2270-10C= (n.2270-10C=) c.2390-10C= (n.2390-10C=) c.2644-10C= c.1886-10C= (n.1886-10C=) c.2267-10C= (n.2267-10C=) c.1856-10C= (n.1856-10C=) c.2442C= (p.Leu814=) n.108+1849C= c.2312-10C= (n.2312-10C=) c.2009-10C= (n.2009-10C=) n.2400-10C= n.2724-10C= n.2367-10C=
19	g.11129503C>T	CA915952554	LDLR	c.2648-10C>T (n.2648-10C>T) c.459-10C>T (n.459-10C>T) c.2270-10C>T (n.2270-10C>T) c.2390-10C>T (n.2390-10C>T) c.2644-10C>T c.1886-10C>T (n.1886-10C>T) c.2267-10C>T (n.2267-10C>T) c.1856-10C>T (n.1856-10C>T) c.2442C>T (p.Leu814=) n.108+1849C>T c.2312-10C>T (n.2312-10C>T) c.2009-10C>T (n.2009-10C>T) n.2400-10C>T n.2724-10C>T n.2367-10C>T	ClinVar dbSNP
19	g.11129504T>A	CA404098111	LDLR	c.2648-9T>A (n.2648-9T>A) c.459-9T>A (n.459-9T>A) c.2270-9T>A (n.2270-9T>A) c.2390-9T>A (n.2390-9T>A) c.2644-9T>A c.1886-9T>A (n.1886-9T>A) c.2267-9T>A (n.2267-9T>A) c.1856-9T>A (n.1856-9T>A) c.2443T>A (p.Ser815Thr) n.108+1850T>A c.2312-9T>A (n.2312-9T>A) c.2009-9T>A (n.2009-9T>A) n.2400-9T>A n.2724-9T>A n.2367-9T>A
19	g.11129504T>C	CA404098117	LDLR	c.2648-9T>C (n.2648-9T>C) c.459-9T>C (n.459-9T>C) c.2270-9T>C (n.2270-9T>C) c.2390-9T>C (n.2390-9T>C) c.2644-9T>C c.1886-9T>C (n.1886-9T>C) c.2267-9T>C (n.2267-9T>C) c.1856-9T>C (n.1856-9T>C) c.2443T>C (p.Ser815Pro) n.108+1850T>C c.2312-9T>C (n.2312-9T>C) c.2009-9T>C (n.2009-9T>C) n.2400-9T>C n.2724-9T>C n.2367-9T>C	ClinVar
19	g.11129504T>G	CA404098118	LDLR	c.2648-9T>G (n.2648-9T>G) c.459-9T>G (n.459-9T>G) c.2270-9T>G (n.2270-9T>G) c.2390-9T>G (n.2390-9T>G) c.2644-9T>G c.1886-9T>G (n.1886-9T>G) c.2267-9T>G (n.2267-9T>G) c.1856-9T>G (n.1856-9T>G) c.2443T>G (p.Ser815Ala) n.108+1850T>G c.2312-9T>G (n.2312-9T>G) c.2009-9T>G (n.2009-9T>G) n.2400-9T>G n.2724-9T>G n.2367-9T>G
19	g.11129505C>A	CA404098126	LDLR	c.2648-8C>A (n.2648-8C>A) c.459-8C>A (n.459-8C>A) c.2270-8C>A (n.2270-8C>A) c.2390-8C>A (n.2390-8C>A) c.2644-8C>A c.1886-8C>A (n.1886-8C>A) c.2267-8C>A (n.2267-8C>A) c.1856-8C>A (n.1856-8C>A) c.2444C>A (p.Ser815Tyr) n.108+1851C>A c.2312-8C>A (n.2312-8C>A) c.2009-8C>A (n.2009-8C>A) n.2400-8C>A n.2724-8C>A n.2367-8C>A
19	g.11129505C=	CA2322780233	LDLR	c.2648-8C= (n.2648-8C=) c.459-8C= (n.459-8C=) c.2270-8C= (n.2270-8C=) c.2390-8C= (n.2390-8C=) c.2644-8C= c.1886-8C= (n.1886-8C=) c.2267-8C= (n.2267-8C=) c.1856-8C= (n.1856-8C=) c.2444C= (p.Ser815=) n.108+1851C= c.2312-8C= (n.2312-8C=) c.2009-8C= (n.2009-8C=) n.2400-8C= n.2724-8C= n.2367-8C=
19	g.11129505C>G	CA404098127	LDLR	c.2648-8C>G (n.2648-8C>G) c.459-8C>G (n.459-8C>G) c.2270-8C>G (n.2270-8C>G) c.2390-8C>G (n.2390-8C>G) c.2644-8C>G c.1886-8C>G (n.1886-8C>G) c.2267-8C>G (n.2267-8C>G) c.1856-8C>G (n.1856-8C>G) c.2444C>G (p.Ser815Cys) n.108+1851C>G c.2312-8C>G (n.2312-8C>G) c.2009-8C>G (n.2009-8C>G) n.2400-8C>G n.2724-8C>G n.2367-8C>G
19	g.11129505C>T	CA404098132	LDLR	c.2648-8C>T (n.2648-8C>T) c.459-8C>T (n.459-8C>T) c.2270-8C>T (n.2270-8C>T) c.2390-8C>T (n.2390-8C>T) c.2644-8C>T c.1886-8C>T (n.1886-8C>T) c.2267-8C>T (n.2267-8C>T) c.1856-8C>T (n.1856-8C>T) c.2444C>T (p.Ser815Phe) n.108+1851C>T c.2312-8C>T (n.2312-8C>T) c.2009-8C>T (n.2009-8C>T) n.2400-8C>T n.2724-8C>T n.2367-8C>T	dbSNP gnomAD v4
19	g.11129506C>A	CA040536	LDLR	c.2648-7C>A (n.2648-7C>A) c.459-7C>A (n.459-7C>A) c.2270-7C>A (n.2270-7C>A) c.2390-7C>A (n.2390-7C>A) c.2644-7C>A c.1886-7C>A (n.1886-7C>A) c.2267-7C>A (n.2267-7C>A) c.1856-7C>A (n.1856-7C>A) c.2445C>A (p.Ser815=) n.108+1852C>A c.2312-7C>A (n.2312-7C>A) c.2009-7C>A (n.2009-7C>A) n.2400-7C>A n.2724-7C>A n.2367-7C>A	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129506C=	CA2322780234	LDLR	c.2648-7C= (n.2648-7C=) c.459-7C= (n.459-7C=) c.2270-7C= (n.2270-7C=) c.2390-7C= (n.2390-7C=) c.2644-7C= c.1886-7C= (n.1886-7C=) c.2267-7C= (n.2267-7C=) c.1856-7C= (n.1856-7C=) c.2445C= (p.Ser815=) n.108+1852C= c.2312-7C= (n.2312-7C=) c.2009-7C= (n.2009-7C=) n.2400-7C= n.2724-7C= n.2367-7C=
19	g.11129506C>G	CA040550	LDLR	c.2648-7C>G (n.2648-7C>G) c.459-7C>G (n.459-7C>G) c.2270-7C>G (n.2270-7C>G) c.2390-7C>G (n.2390-7C>G) c.2644-7C>G c.1886-7C>G (n.1886-7C>G) c.2267-7C>G (n.2267-7C>G) c.1856-7C>G (n.1856-7C>G) c.2445C>G (p.Ser815=) n.108+1852C>G c.2312-7C>G (n.2312-7C>G) c.2009-7C>G (n.2009-7C>G) n.2400-7C>G n.2724-7C>G n.2367-7C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129506C>T	CA783254623	LDLR	c.2648-7C>T (n.2648-7C>T) c.459-7C>T (n.459-7C>T) c.2270-7C>T (n.2270-7C>T) c.2390-7C>T (n.2390-7C>T) c.2644-7C>T c.1886-7C>T (n.1886-7C>T) c.2267-7C>T (n.2267-7C>T) c.1856-7C>T (n.1856-7C>T) c.2445C>T (p.Ser815=) n.108+1852C>T c.2312-7C>T (n.2312-7C>T) c.2009-7C>T (n.2009-7C>T) n.2400-7C>T n.2724-7C>T n.2367-7C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129507C>A	CA404098146	LDLR	c.2648-6C>A (n.2648-6C>A) c.459-6C>A (n.459-6C>A) c.2270-6C>A (n.2270-6C>A) c.2390-6C>A (n.2390-6C>A) c.2644-6C>A c.1886-6C>A (n.1886-6C>A) c.2267-6C>A (n.2267-6C>A) c.1856-6C>A (n.1856-6C>A) c.2446C>A (p.Leu816Ile) n.108+1853C>A c.2312-6C>A (n.2312-6C>A) c.2009-6C>A (n.2009-6C>A) n.2400-6C>A n.2724-6C>A n.2367-6C>A
19	g.11129507C>G	CA404098151	LDLR	c.2648-6C>G (n.2648-6C>G) c.459-6C>G (n.459-6C>G) c.2270-6C>G (n.2270-6C>G) c.2390-6C>G (n.2390-6C>G) c.2644-6C>G c.1886-6C>G (n.1886-6C>G) c.2267-6C>G (n.2267-6C>G) c.1856-6C>G (n.1856-6C>G) c.2446C>G (p.Leu816Val) n.108+1853C>G c.2312-6C>G (n.2312-6C>G) c.2009-6C>G (n.2009-6C>G) n.2400-6C>G n.2724-6C>G n.2367-6C>G
19	g.11129509_11129516del	CA2695228326	LDLR	c.2648-4_2651del c.459-4_462del c.2270-4_2273del c.2390-4_2393del c.2644-4_2647del c.1886-4_1889del c.2267-4_2270del c.1856-4_1859del c.2448_2455del (p.Gln817LeufsTer?) n.108+1855_108+1862del c.2312-4_2315del c.2009-4_2012del n.2400-4_2403del n.2724-4_2727del n.2367-4_2370del
19	g.11129508T>A	CA404098155	LDLR	c.2648-5T>A (n.2648-5T>A) c.459-5T>A (n.459-5T>A) c.2270-5T>A (n.2270-5T>A) c.2390-5T>A (n.2390-5T>A) c.2644-5T>A c.1886-5T>A (n.1886-5T>A) c.2267-5T>A (n.2267-5T>A) c.1856-5T>A (n.1856-5T>A) c.2447T>A (p.Leu816Gln) n.108+1854T>A c.2312-5T>A (n.2312-5T>A) c.2009-5T>A (n.2009-5T>A) n.2400-5T>A n.2724-5T>A n.2367-5T>A
19	g.11129508T>C	CA404098157	LDLR	c.2648-5T>C (n.2648-5T>C) c.459-5T>C (n.459-5T>C) c.2270-5T>C (n.2270-5T>C) c.2390-5T>C (n.2390-5T>C) c.2644-5T>C c.1886-5T>C (n.1886-5T>C) c.2267-5T>C (n.2267-5T>C) c.1856-5T>C (n.1856-5T>C) c.2447T>C (p.Leu816Pro) n.108+1854T>C c.2312-5T>C (n.2312-5T>C) c.2009-5T>C (n.2009-5T>C) n.2400-5T>C n.2724-5T>C n.2367-5T>C
19	g.11129508T>G	CA404098160	LDLR	c.2648-5T>G (n.2648-5T>G) c.459-5T>G (n.459-5T>G) c.2270-5T>G (n.2270-5T>G) c.2390-5T>G (n.2390-5T>G) c.2644-5T>G c.1886-5T>G (n.1886-5T>G) c.2267-5T>G (n.2267-5T>G) c.1856-5T>G (n.1856-5T>G) c.2447T>G (p.Leu816Arg) n.108+1854T>G c.2312-5T>G (n.2312-5T>G) c.2009-5T>G (n.2009-5T>G) n.2400-5T>G n.2724-5T>G n.2367-5T>G
19	g.11129509A>G	CA2499225331	LDLR	c.2648-4A>G (n.2648-4A>G) c.459-4A>G (n.459-4A>G) c.2270-4A>G (n.2270-4A>G) c.2390-4A>G (n.2390-4A>G) c.2644-4A>G c.1886-4A>G (n.1886-4A>G) c.2267-4A>G (n.2267-4A>G) c.1856-4A>G (n.1856-4A>G) c.2448A>G (p.Leu816=) n.108+1855A>G c.2312-4A>G (n.2312-4A>G) c.2009-4A>G (n.2009-4A>G) n.2400-4A>G n.2724-4A>G n.2367-4A>G	ClinVar dbSNP gnomAD v4
19	g.11129510C>A	CA404098163	LDLR	c.2648-3C>A (n.2648-3C>A) c.459-3C>A (n.459-3C>A) c.2270-3C>A (n.2270-3C>A) c.2390-3C>A (n.2390-3C>A) c.2644-3C>A c.1886-3C>A (n.1886-3C>A) c.2267-3C>A (n.2267-3C>A) c.1856-3C>A (n.1856-3C>A) c.2449C>A (p.Gln817Lys) n.108+1856C>A c.2312-3C>A (n.2312-3C>A) c.2009-3C>A (n.2009-3C>A) n.2400-3C>A n.2724-3C>A n.2367-3C>A
19	g.11129510C=	CA2322780235	LDLR	c.2648-3C= (n.2648-3C=) c.459-3C= (n.459-3C=) c.2270-3C= (n.2270-3C=) c.2390-3C= (n.2390-3C=) c.2644-3C= c.1886-3C= (n.1886-3C=) c.2267-3C= (n.2267-3C=) c.1856-3C= (n.1856-3C=) c.2449C= (p.Gln817=) n.108+1856C= c.2312-3C= (n.2312-3C=) c.2009-3C= (n.2009-3C=) n.2400-3C= n.2724-3C= n.2367-3C=
19	g.11129510C>G	CA404098168	LDLR	c.2648-3C>G (n.2648-3C>G) c.459-3C>G (n.459-3C>G) c.2270-3C>G (n.2270-3C>G) c.2390-3C>G (n.2390-3C>G) c.2644-3C>G c.1886-3C>G (n.1886-3C>G) c.2267-3C>G (n.2267-3C>G) c.1856-3C>G (n.1856-3C>G) c.2449C>G (p.Gln817Glu) n.108+1856C>G c.2312-3C>G (n.2312-3C>G) c.2009-3C>G (n.2009-3C>G) n.2400-3C>G n.2724-3C>G n.2367-3C>G	ClinVar dbSNP
19	g.11129510C>T	CA040445	LDLR	c.2648-3C>T (n.2648-3C>T) c.459-3C>T (n.459-3C>T) c.2270-3C>T (n.2270-3C>T) c.2390-3C>T (n.2390-3C>T) c.2644-3C>T c.1886-3C>T (n.1886-3C>T) c.2267-3C>T (n.2267-3C>T) c.1856-3C>T (n.1856-3C>T) c.2449C>T (p.Gln817Ter) n.108+1856C>T c.2312-3C>T (n.2312-3C>T) c.2009-3C>T (n.2009-3C>T) n.2400-3C>T n.2724-3C>T n.2367-3C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129511A=	CA2322780236	LDLR	c.2648-2A= (n.2648-2A=) c.459-2A= (n.459-2A=) c.2270-2A= (n.2270-2A=) c.2390-2A= (n.2390-2A=) c.2644-2A= c.1886-2A= (n.1886-2A=) c.2267-2A= (n.2267-2A=) c.1856-2A= (n.1856-2A=) c.2450A= (p.Gln817=) n.108+1857A= c.2312-2A= (n.2312-2A=) c.2009-2A= (n.2009-2A=) n.2400-2A= n.2724-2A= n.2367-2A=
19	g.11129511A>C	CA404098179	LDLR	c.2648-2A>C (n.2648-2A>C) c.459-2A>C (n.459-2A>C) c.2270-2A>C (n.2270-2A>C) c.2390-2A>C (n.2390-2A>C) c.2644-2A>C c.1886-2A>C (n.1886-2A>C) c.2267-2A>C (n.2267-2A>C) c.1856-2A>C (n.1856-2A>C) c.2450A>C (p.Gln817Pro) n.108+1857A>C c.2312-2A>C (n.2312-2A>C) c.2009-2A>C (n.2009-2A>C) n.2400-2A>C n.2724-2A>C n.2367-2A>C
19	g.11129511A>G	CA040410	LDLR	c.2648-2A>G (n.2648-2A>G) c.459-2A>G (n.459-2A>G) c.2270-2A>G (n.2270-2A>G) c.2390-2A>G (n.2390-2A>G) c.2644-2A>G c.1886-2A>G (n.1886-2A>G) c.2267-2A>G (n.2267-2A>G) c.1856-2A>G (n.1856-2A>G) c.2450A>G (p.Gln817Arg) n.108+1857A>G c.2312-2A>G (n.2312-2A>G) c.2009-2A>G (n.2009-2A>G) n.2400-2A>G n.2724-2A>G n.2367-2A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129511A>T	CA404098175	LDLR	c.2648-2A>T (n.2648-2A>T) c.459-2A>T (n.459-2A>T) c.2270-2A>T (n.2270-2A>T) c.2390-2A>T (n.2390-2A>T) c.2644-2A>T c.1886-2A>T (n.1886-2A>T) c.2267-2A>T (n.2267-2A>T) c.1856-2A>T (n.1856-2A>T) c.2450A>T (p.Gln817Leu) n.108+1857A>T c.2312-2A>T (n.2312-2A>T) c.2009-2A>T (n.2009-2A>T) n.2400-2A>T n.2724-2A>T n.2367-2A>T
19	g.11129512_11133830del	CA658824397	LDLR	c.2390-1_2514del c.2267-1_2514del c.1886-1_2514del c.1856-1_2514del	ClinVar
19	g.11129512del	CA2695202617	LDLR	c.2648-1del (n.2648-1del) c.459-1del (n.459-1del) c.2270-1del (n.2270-1del) c.2390-1del (n.2390-1del) c.2644-1del c.1886-1del (n.1886-1del) c.2267-1del (n.2267-1del) c.1856-1del (n.1856-1del) c.2451del (p.Gln817HisfsTer20) n.108+1858del c.2312-1del (n.2312-1del) c.2009-1del (n.2009-1del) n.2400-1del n.2724-1del n.2367-1del
19	g.11129512G>A	CA10585846	LDLR	c.2648-1G>A (n.2648-1G>A) c.459-1G>A (n.459-1G>A) c.2270-1G>A (n.2270-1G>A) c.2390-1G>A (n.2390-1G>A) c.2644-1G>A c.1886-1G>A (n.1886-1G>A) c.2267-1G>A (n.2267-1G>A) c.1856-1G>A (n.1856-1G>A) c.2451G>A (p.Gln817=) n.108+1858G>A c.2312-1G>A (n.2312-1G>A) c.2009-1G>A (n.2009-1G>A) n.2400-1G>A n.2724-1G>A n.2367-1G>A	ClinVar dbSNP
19	g.11129512G>C	CA10585847	LDLR	c.2648-1G>C (n.2648-1G>C) c.459-1G>C (n.459-1G>C) c.2270-1G>C (n.2270-1G>C) c.2390-1G>C (n.2390-1G>C) c.2644-1G>C c.1886-1G>C (n.1886-1G>C) c.2267-1G>C (n.2267-1G>C) c.1856-1G>C (n.1856-1G>C) c.2451G>C (p.Gln817His) n.108+1858G>C c.2312-1G>C (n.2312-1G>C) c.2009-1G>C (n.2009-1G>C) n.2400-1G>C n.2724-1G>C n.2367-1G>C	ClinVar dbSNP gnomAD v4
19	g.11129512G=	CA2322780237	LDLR	c.2648-1G= (n.2648-1G=) c.459-1G= (n.459-1G=) c.2270-1G= (n.2270-1G=) c.2390-1G= (n.2390-1G=) c.2644-1G= c.1886-1G= (n.1886-1G=) c.2267-1G= (n.2267-1G=) c.1856-1G= (n.1856-1G=) c.2451G= (p.Gln817=) n.108+1858G= c.2312-1G= (n.2312-1G=) c.2009-1G= (n.2009-1G=) n.2400-1G= n.2724-1G= n.2367-1G=
19	g.11129512G>T	CA404098187	LDLR	c.2648-1G>T (n.2648-1G>T) c.459-1G>T (n.459-1G>T) c.2270-1G>T (n.2270-1G>T) c.2390-1G>T (n.2390-1G>T) c.2644-1G>T c.1886-1G>T (n.1886-1G>T) c.2267-1G>T (n.2267-1G>T) c.1856-1G>T (n.1856-1G>T) c.2451G>T (p.Gln817His) n.108+1858G>T c.2312-1G>T (n.2312-1G>T) c.2009-1G>T (n.2009-1G>T) n.2400-1G>T n.2724-1G>T n.2367-1G>T
19	g.11129512_11129529delinsGTGCTCCTCGTCTTCCTT	CA2322780238	LDLR	c.2648-1_2664delinsGTGCTCCTCGTCTTCCTT c.459-1_475delinsGTGCTCCTCGTCTTCCTT c.2270-1_2286delinsGTGCTCCTCGTCTTCCTT c.2390-1_2406delinsGTGCTCCTCGTCTTCCTT c.2644-1_2660delinsGTGCTCCTCGTCTTCCTT c.1886-1_1902delinsGTGCTCCTCGTCTTCCTT c.2267-1_2283delinsGTGCTCCTCGTCTTCCTT c.1856-1_1872delinsGTGCTCCTCGTCTTCCTT c.2451_2468delinsGTGCTCCTCGTCTTCCTT (p.Gln817=) n.108+1858_108+1875delinsGTGCTCCTCGTCTTCCTT c.2312-1_2328delinsGTGCTCCTCGTCTTCCTT c.2009-1_2025delinsGTGCTCCTCGTCTTCCTT n.2400-1_2416delinsGTGCTCCTCGTCTTCCTT n.2724-1_2740delinsGTGCTCCTCGTCTTCCTT n.2367-1_2383delinsGTGCTCCTCGTCTTCCTT
19	g.11129513T>A	CA404098192	LDLR	c.2648T>A (p.Val883Glu) c.459T>A (n.459T>A) c.2270T>A (p.Val757Glu) c.2390T>A (p.Val797Glu) c.2644T>A c.1886T>A (p.Val629Glu) c.2267T>A (p.Val756Glu) c.1856T>A (p.Val619Glu) c.2452T>A (p.Cys818Ser) n.108+1859T>A c.2312T>A (p.Val771Glu) c.2009T>A (p.Val670Glu) n.2400T>A n.2724T>A n.2367T>A
19	g.11129513T>C	CA404098194	LDLR	c.2648T>C (p.Val883Ala) c.459T>C (n.459T>C) c.2270T>C (p.Val757Ala) c.2390T>C (p.Val797Ala) c.2644T>C c.1886T>C (p.Val629Ala) c.2267T>C (p.Val756Ala) c.1856T>C (p.Val619Ala) c.2452T>C (p.Cys818Arg) n.108+1859T>C c.2312T>C (p.Val771Ala) c.2009T>C (p.Val670Ala) n.2400T>C n.2724T>C n.2367T>C
19	g.11129513T>G	CA404098197	LDLR	c.2648T>G (p.Val883Gly) c.459T>G (n.459T>G) c.2270T>G (p.Val757Gly) c.2390T>G (p.Val797Gly) c.2644T>G c.1886T>G (p.Val629Gly) c.2267T>G (p.Val756Gly) c.1856T>G (p.Val619Gly) c.2452T>G (p.Cys818Gly) n.108+1859T>G c.2312T>G (p.Val771Gly) c.2009T>G (p.Val670Gly) n.2400T>G n.2724T>G n.2367T>G
19	g.11129513_11129530dup	CA2695228327	LDLR	c.2648_2665dup (p.Leu888_Cys889insLeuLeuLeuValPheLeu) c.459_476dup (n.459_476dup) c.2270_2287dup (p.Leu762_Cys763insLeuLeuLeuValPheLeu) c.2390_2407dup (p.Leu802_Cys803insLeuLeuLeuValPheLeu) c.2644_2661dup c.1886_1903dup (p.Leu634_Cys635insLeuLeuLeuValPheLeu) c.2267_2284dup (p.Leu761_Cys762insLeuLeuLeuValPheLeu) c.1856_1873dup (p.Leu624_Cys625insLeuLeuLeuValPheLeu) c.2452_2469dup (p.Phe823_Ala824insCysSerSerSerSerPhe) n.108+1859_108+1876dup c.2312_2329dup (p.Leu776_Cys777insLeuLeuLeuValPheLeu) c.2009_2026dup (p.Leu675_Cys676insLeuLeuLeuValPheLeu) n.2400_2417dup n.2724_2741dup n.2367_2384dup
19	g.11129516_11129532del	CA645373240	LDLR	c.2651_2667del (p.Leu884ProfsTer13) c.462_478del (n.462_478del) c.2273_2289del (p.Leu758ProfsTer13) c.2393_2409del (p.Leu798ProfsTer13) c.2647_2663del c.1889_1905del (p.Leu630ProfsTer13) c.2270_2286del (p.Leu757ProfsTer13) c.1859_1875del (p.Leu620ProfsTer13) c.2455_2471del (p.Ser819LeufsTer?) n.108+1862_108+1878del c.2315_2331del (p.Leu772ProfsTer13) c.2012_2028del (p.Leu671ProfsTer13) n.2403_2419del n.2727_2743del n.2370_2386del	ClinVar dbSNP
19	g.11129514G>A	CA404098202	LDLR	c.2649G>A (p.Val883=) c.460G>A (n.460G>A) c.2271G>A (p.Val757=) c.2391G>A (p.Val797=) c.2645G>A c.1887G>A (p.Val629=) c.2268G>A (p.Val756=) c.1857G>A (p.Val619=) c.2453G>A (p.Cys818Tyr) n.108+1860G>A c.2313G>A (p.Val771=) c.2010G>A (p.Val670=) n.2401G>A n.2725G>A n.2368G>A	gnomAD v4
19	g.11129514G>C	CA040600	LDLR	c.2649G>C (p.Val883=) c.460G>C (n.460G>C) c.2271G>C (p.Val757=) c.2391G>C (p.Val797=) c.2645G>C c.1887G>C (p.Val629=) c.2268G>C (p.Val756=) c.1857G>C (p.Val619=) c.2453G>C (p.Cys818Ser) n.108+1860G>C c.2313G>C (p.Val771=) c.2010G>C (p.Val670=) n.2401G>C n.2725G>C n.2368G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129514G=	CA2322780242	LDLR	c.2649G= (p.Val883=) c.460G= (n.460G=) c.2271G= (p.Val757=) c.2391G= (p.Val797=) c.2645G= c.1887G= (p.Val629=) c.2268G= (p.Val756=) c.1857G= (p.Val619=) c.2453G= (p.Cys818=) n.108+1860G= c.2313G= (p.Val771=) c.2010G= (p.Val670=) n.2401G= n.2725G= n.2368G=
19	g.11129514G>T	CA404098203	LDLR	c.2649G>T (p.Val883=) c.460G>T (n.460G>T) c.2271G>T (p.Val757=) c.2391G>T (p.Val797=) c.2645G>T c.1887G>T (p.Val629=) c.2268G>T (p.Val756=) c.1857G>T (p.Val619=) c.2453G>T (p.Cys818Phe) n.108+1860G>T c.2313G>T (p.Val771=) c.2010G>T (p.Val670=) n.2401G>T n.2725G>T n.2368G>T	ClinVar dbSNP gnomAD v4
19	g.11129514_11129517delinsGCTC	CA2322780241	LDLR	c.2649_2652delinsGCTC (p.Val883=) c.460_463delinsGCTC (n.460_463delinsGCTC) c.2271_2274delinsGCTC (p.Val757=) c.2391_2394delinsGCTC (p.Val797=) c.2645_2648delinsGCTC c.1887_1890delinsGCTC (p.Val629=) c.2268_2271delinsGCTC (p.Val756=) c.1857_1860delinsGCTC (p.Val619=) c.2453_2456delinsGCTC (p.Cys818=) n.108+1860_108+1863delinsGCTC c.2313_2316delinsGCTC (p.Val771=) c.2010_2013delinsGCTC (p.Val670=) n.2401_2404delinsGCTC n.2725_2728delinsGCTC n.2368_2371delinsGCTC
19	g.11129514_11129522delinsGCTCCTCGT	CA2322780240	LDLR	c.2649_2657delinsGCTCCTCGT (p.Val883=) c.460_468delinsGCTCCTCGT (n.460_468delinsGCTCCTCGT) c.2271_2279delinsGCTCCTCGT (p.Val757=) c.2391_2399delinsGCTCCTCGT (p.Val797=) c.2645_2653delinsGCTCCTCGT c.1887_1895delinsGCTCCTCGT (p.Val629=) c.2268_2276delinsGCTCCTCGT (p.Val756=) c.1857_1865delinsGCTCCTCGT (p.Val619=) c.2453_2461delinsGCTCCTCGT (p.Cys818=) n.108+1860_108+1868delinsGCTCCTCGT c.2313_2321delinsGCTCCTCGT (p.Val771=) c.2010_2018delinsGCTCCTCGT (p.Val670=) n.2401_2409delinsGCTCCTCGT n.2725_2733delinsGCTCCTCGT n.2368_2376delinsGCTCCTCGT
19	g.11129514_11129523delinsGCTCCTCGTC	CA2322780239	LDLR	c.2649_2658delinsGCTCCTCGTC (p.Val883=) c.460_469delinsGCTCCTCGTC (n.460_469delinsGCTCCTCGTC) c.2271_2280delinsGCTCCTCGTC (p.Val757=) c.2391_2400delinsGCTCCTCGTC (p.Val797=) c.2645_2654delinsGCTCCTCGTC c.1887_1896delinsGCTCCTCGTC (p.Val629=) c.2268_2277delinsGCTCCTCGTC (p.Val756=) c.1857_1866delinsGCTCCTCGTC (p.Val619=) c.2453_2462delinsGCTCCTCGTC (p.Cys818=) n.108+1860_108+1869delinsGCTCCTCGTC c.2313_2322delinsGCTCCTCGTC (p.Val771=) c.2010_2019delinsGCTCCTCGTC (p.Val670=) n.2401_2410delinsGCTCCTCGTC n.2725_2734delinsGCTCCTCGTC n.2368_2377delinsGCTCCTCGTC
19	g.11129515C>A	CA404098204	LDLR	c.2650C>A (p.Leu884Ile) c.461C>A (n.461C>A) c.2272C>A (p.Leu758Ile) c.2392C>A (p.Leu798Ile) c.2646C>A c.1888C>A (p.Leu630Ile) c.2269C>A (p.Leu757Ile) c.1858C>A (p.Leu620Ile) c.2454C>A (p.Cys818Ter) n.108+1861C>A c.2314C>A (p.Leu772Ile) c.2011C>A (p.Leu671Ile) n.2402C>A n.2726C>A n.2369C>A	COSMIC
19	g.11129515C>G	CA404098206	LDLR	c.2650C>G (p.Leu884Val) c.461C>G (n.461C>G) c.2272C>G (p.Leu758Val) c.2392C>G (p.Leu798Val) c.2646C>G c.1888C>G (p.Leu630Val) c.2269C>G (p.Leu757Val) c.1858C>G (p.Leu620Val) c.2454C>G (p.Cys818Trp) n.108+1861C>G c.2314C>G (p.Leu772Val) c.2011C>G (p.Leu671Val) n.2402C>G n.2726C>G n.2369C>G
19	g.11129515C>T	CA404098208	LDLR	c.2650C>T (p.Leu884Phe) c.461C>T (n.461C>T) c.2272C>T (p.Leu758Phe) c.2392C>T (p.Leu798Phe) c.2646C>T c.1888C>T (p.Leu630Phe) c.2269C>T (p.Leu757Phe) c.1858C>T (p.Leu620Phe) c.2454C>T (p.Cys818=) n.108+1861C>T c.2314C>T (p.Leu772Phe) c.2011C>T (p.Leu671Phe) n.2402C>T n.2726C>T n.2369C>T
19	g.11129518_11129520del	CA10585849	LDLR	c.2653_2655del (p.Leu885del) c.464_466del (n.464_466del) c.2275_2277del (p.Leu759del) c.2395_2397del (p.Leu799del) c.2649_2651del c.1891_1893del (p.Leu631del) c.2272_2274del (p.Leu758del) c.1861_1863del (p.Leu621del) c.2457_2459del (p.Ser820del) n.108+1864_108+1866del c.2317_2319del (p.Leu773del) c.2014_2016del (p.Leu672del) n.2405_2407del n.2729_2731del n.2372_2374del	ClinVar dbSNP gnomAD v4
19	g.11129515_11129523del	CA10585848	LDLR	c.2650_2658del (p.Leu884_Val886del) c.461_469del (n.461_469del) c.2272_2280del (p.Leu758_Val760del) c.2392_2400del (p.Leu798_Val800del) c.2646_2654del c.1888_1896del (p.Leu630_Val632del) c.2269_2277del (p.Leu757_Val759del) c.1858_1866del (p.Leu620_Val622del) c.2454_2462del (p.Ser819_Ser821del) n.108+1861_108+1869del c.2314_2322del (p.Leu772_Val774del) c.2011_2019del (p.Leu671_Val673del) n.2402_2410del n.2726_2734del n.2369_2377del	ClinVar dbSNP
19	g.11129515_11129524delinsCTCCTCGTCT	CA2322780243	LDLR	c.2650_2659delinsCTCCTCGTCT (p.Leu884=) c.461_470delinsCTCCTCGTCT (n.461_470delinsCTCCTCGTCT) c.2272_2281delinsCTCCTCGTCT (p.Leu758=) c.2392_2401delinsCTCCTCGTCT (p.Leu798=) c.2646_2655delinsCTCCTCGTCT c.1888_1897delinsCTCCTCGTCT (p.Leu630=) c.2269_2278delinsCTCCTCGTCT (p.Leu757=) c.1858_1867delinsCTCCTCGTCT (p.Leu620=) c.2454_2463delinsCTCCTCGTCT (p.Cys818=) n.108+1861_108+1870delinsCTCCTCGTCT c.2314_2323delinsCTCCTCGTCT (p.Leu772=) c.2011_2020delinsCTCCTCGTCT (p.Leu671=) n.2402_2411delinsCTCCTCGTCT n.2726_2735delinsCTCCTCGTCT n.2369_2378delinsCTCCTCGTCT
19	g.11129517_11129524del	CA645509299	LDLR	c.2652_2659del (p.Leu885ProfsTer15) c.463_470del (n.463_470del) c.2274_2281del (p.Leu759ProfsTer15) c.2394_2401del (p.Leu799ProfsTer15) c.2648_2655del c.1890_1897del (p.Leu631ProfsTer15) c.2271_2278del (p.Leu758ProfsTer15) c.1860_1867del (p.Leu621ProfsTer15) c.2456_2463del (p.Ser819PhefsTer?) n.108+1863_108+1870del c.2316_2323del (p.Leu773ProfsTer15) c.2013_2020del (p.Leu672ProfsTer15) n.2404_2411del n.2728_2735del n.2371_2378del	ClinVar dbSNP
19	g.11129516T>A	CA404098215	LDLR	c.2651T>A (p.Leu884His) c.462T>A (n.462T>A) c.2273T>A (p.Leu758His) c.2393T>A (p.Leu798His) c.2647T>A c.1889T>A (p.Leu630His) c.2270T>A (p.Leu757His) c.1859T>A (p.Leu620His) c.2455T>A (p.Ser819Thr) n.108+1862T>A c.2315T>A (p.Leu772His) c.2012T>A (p.Leu671His) n.2403T>A n.2727T>A n.2370T>A
19	g.11129516T>C	CA404098216	LDLR	c.2651T>C (p.Leu884Pro) c.462T>C (n.462T>C) c.2273T>C (p.Leu758Pro) c.2393T>C (p.Leu798Pro) c.2647T>C c.1889T>C (p.Leu630Pro) c.2270T>C (p.Leu757Pro) c.1859T>C (p.Leu620Pro) c.2455T>C (p.Ser819Pro) n.108+1862T>C c.2315T>C (p.Leu772Pro) c.2012T>C (p.Leu671Pro) n.2403T>C n.2727T>C n.2370T>C
19	g.11129516T>G	CA404098217	LDLR	c.2651T>G (p.Leu884Arg) c.462T>G (n.462T>G) c.2273T>G (p.Leu758Arg) c.2393T>G (p.Leu798Arg) c.2647T>G c.1889T>G (p.Leu630Arg) c.2270T>G (p.Leu757Arg) c.1859T>G (p.Leu620Arg) c.2455T>G (p.Ser819Ala) n.108+1862T>G c.2315T>G (p.Leu772Arg) c.2012T>G (p.Leu671Arg) n.2403T>G n.2727T>G n.2370T>G
19	g.11129520_11129528del	CA023662	LDLR	c.2655_2663del (p.Val886_Leu888del) c.466_474del (n.466_474del) c.2277_2285del (p.Val760_Leu762del) c.2397_2405del (p.Val800_Leu802del) c.2651_2659del c.1893_1901del (p.Val632_Leu634del) c.2274_2282del (p.Val759_Leu761del) c.1863_1871del (p.Val622_Leu624del) c.2459_2467del (p.Ser820_Ser822del) n.108+1866_108+1874del c.2319_2327del (p.Val774_Leu776del) c.2016_2024del (p.Val673_Leu675del) n.2407_2415del n.2731_2739del n.2374_2382del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129517_11129529del	CA2695228328	LDLR	c.2652_2664del (p.Leu885AlafsTer?) c.463_475del (n.463_475del) c.2274_2286del (p.Leu759AlafsTer?) c.2394_2406del (p.Leu799AlafsTer?) c.2648_2660del c.1890_1902del (p.Leu631AlafsTer?) c.2271_2283del (p.Leu758AlafsTer?) c.1860_1872del (p.Leu621AlafsTer?) c.2456_2468del (p.Ser819LeufsTer14) n.108+1863_108+1875del c.2316_2328del (p.Leu773AlafsTer?) c.2013_2025del (p.Leu672AlafsTer?) n.2404_2416del n.2728_2740del n.2371_2383del
19	g.11129517C>A	CA404098222	LDLR	c.2652C>A (p.Leu884=) c.463C>A (n.463C>A) c.2274C>A (p.Leu758=) c.2394C>A (p.Leu798=) c.2648C>A c.1890C>A (p.Leu630=) c.2271C>A (p.Leu757=) c.1860C>A (p.Leu620=) c.2456C>A (p.Ser819Tyr) n.108+1863C>A c.2316C>A (p.Leu772=) c.2013C>A (p.Leu671=) n.2404C>A n.2728C>A n.2371C>A
19	g.11129517C=	CA2322780244	LDLR	c.2652C= (p.Leu884=) c.463C= (n.463C=) c.2274C= (p.Leu758=) c.2394C= (p.Leu798=) c.2648C= c.1890C= (p.Leu630=) c.2271C= (p.Leu757=) c.1860C= (p.Leu620=) c.2456C= (p.Ser819=) n.108+1863C= c.2316C= (p.Leu772=) c.2013C= (p.Leu671=) n.2404C= n.2728C= n.2371C=
19	g.11129517C>G	CA040617	LDLR	c.2652C>G (p.Leu884=) c.463C>G (n.463C>G) c.2274C>G (p.Leu758=) c.2394C>G (p.Leu798=) c.2648C>G c.1890C>G (p.Leu630=) c.2271C>G (p.Leu757=) c.1860C>G (p.Leu620=) c.2456C>G (p.Ser819Cys) n.108+1863C>G c.2316C>G (p.Leu772=) c.2013C>G (p.Leu671=) n.2404C>G n.2728C>G n.2371C>G	ClinVar dbSNP ExAC gnomAD v2
19	g.11129517C>T	CA404098228	LDLR	c.2652C>T (p.Leu884=) c.463C>T (n.463C>T) c.2274C>T (p.Leu758=) c.2394C>T (p.Leu798=) c.2648C>T c.1890C>T (p.Leu630=) c.2271C>T (p.Leu757=) c.1860C>T (p.Leu620=) c.2456C>T (p.Ser819Phe) n.108+1863C>T c.2316C>T (p.Leu772=) c.2013C>T (p.Leu671=) n.2404C>T n.2728C>T n.2371C>T	dbSNP
19	g.11129518dup	CA2580096309	LDLR	c.2653dup (p.Leu885ProfsTer18) c.464dup (n.464dup) c.2275dup (p.Leu759ProfsTer18) c.2395dup (p.Leu799ProfsTer18) c.2649dup c.1891dup (p.Leu631ProfsTer18) c.2272dup (p.Leu758ProfsTer18) c.1861dup (p.Leu621ProfsTer18) c.2457dup (p.Ser820LeufsTer?) n.108+1864dup c.2317dup (p.Leu773ProfsTer18) c.2014dup (p.Leu672ProfsTer18) n.2405dup n.2729dup n.2372dup	ClinVar
19	g.11129520_11129534del	CA1139654948	LDLR	c.2655_2669del (p.Val886_Leu890del) c.466_480del (n.466_480del) c.2277_2291del (p.Val760_Leu764del) c.2397_2411del (p.Val800_Leu804del) c.2651_2665del c.1893_1907del (p.Val632_Leu636del) c.2274_2288del (p.Val759_Leu763del) c.1863_1877del (p.Val622_Leu626del) c.2459_2473del (p.Ser820_Ala824del) n.108+1866_108+1880del c.2319_2333del (p.Val774_Leu778del) c.2016_2030del (p.Val673_Leu677del) n.2407_2421del n.2731_2745del n.2374_2388del
19	g.11129518C>A	CA404098238	LDLR	c.2653C>A (p.Leu885Ile) c.464C>A (n.464C>A) c.2275C>A (p.Leu759Ile) c.2395C>A (p.Leu799Ile) c.2649C>A c.1891C>A (p.Leu631Ile) c.2272C>A (p.Leu758Ile) c.1861C>A (p.Leu621Ile) c.2457C>A (p.Ser819=) n.108+1864C>A c.2317C>A (p.Leu773Ile) c.2014C>A (p.Leu672Ile) n.2405C>A n.2729C>A n.2372C>A
19	g.11129518C=	CA2322780245	LDLR	c.2653C= (p.Leu885=) c.464C= (n.464C=) c.2275C= (p.Leu759=) c.2395C= (p.Leu799=) c.2649C= c.1891C= (p.Leu631=) c.2272C= (p.Leu758=) c.1861C= (p.Leu621=) c.2457C= (p.Ser819=) n.108+1864C= c.2317C= (p.Leu773=) c.2014C= (p.Leu672=) n.2405C= n.2729C= n.2372C=
19	g.11129518C>G	CA404098242	LDLR	c.2653C>G (p.Leu885Val) c.464C>G (n.464C>G) c.2275C>G (p.Leu759Val) c.2395C>G (p.Leu799Val) c.2649C>G c.1891C>G (p.Leu631Val) c.2272C>G (p.Leu758Val) c.1861C>G (p.Leu621Val) c.2457C>G (p.Ser819=) n.108+1864C>G c.2317C>G (p.Leu773Val) c.2014C>G (p.Leu672Val) n.2405C>G n.2729C>G n.2372C>G
19	g.11129518C>T	CA040651	LDLR	c.2653C>T (p.Leu885Phe) c.464C>T (n.464C>T) c.2275C>T (p.Leu759Phe) c.2395C>T (p.Leu799Phe) c.2649C>T c.1891C>T (p.Leu631Phe) c.2272C>T (p.Leu758Phe) c.1861C>T (p.Leu621Phe) c.2457C>T (p.Ser819=) n.108+1864C>T c.2317C>T (p.Leu773Phe) c.2014C>T (p.Leu672Phe) n.2405C>T n.2729C>T n.2372C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129519T>A	CA404098247	LDLR	c.2654T>A (p.Leu885His) c.465T>A (n.465T>A) c.2276T>A (p.Leu759His) c.2396T>A (p.Leu799His) c.2650T>A c.1892T>A (p.Leu631His) c.2273T>A (p.Leu758His) c.1862T>A (p.Leu621His) c.2458T>A (p.Ser820Thr) n.108+1865T>A c.2318T>A (p.Leu773His) c.2015T>A (p.Leu672His) n.2406T>A n.2730T>A n.2373T>A
19	g.11129519T>C	CA404098249	LDLR	c.2654T>C (p.Leu885Pro) c.465T>C (n.465T>C) c.2276T>C (p.Leu759Pro) c.2396T>C (p.Leu799Pro) c.2650T>C c.1892T>C (p.Leu631Pro) c.2273T>C (p.Leu758Pro) c.1862T>C (p.Leu621Pro) c.2458T>C (p.Ser820Pro) n.108+1865T>C c.2318T>C (p.Leu773Pro) c.2015T>C (p.Leu672Pro) n.2406T>C n.2730T>C n.2373T>C
19	g.11129519T>G	CA10585850	LDLR	c.2654T>G (p.Leu885Arg) c.465T>G (n.465T>G) c.2276T>G (p.Leu759Arg) c.2396T>G (p.Leu799Arg) c.2650T>G c.1892T>G (p.Leu631Arg) c.2273T>G (p.Leu758Arg) c.1862T>G (p.Leu621Arg) c.2458T>G (p.Ser820Ala) n.108+1865T>G c.2318T>G (p.Leu773Arg) c.2015T>G (p.Leu672Arg) n.2406T>G n.2730T>G n.2373T>G	ClinVar dbSNP
19	g.11129519T=	CA2322780246	LDLR	c.2654T= (p.Leu885=) c.465T= (n.465T=) c.2276T= (p.Leu759=) c.2396T= (p.Leu799=) c.2650T= c.1892T= (p.Leu631=) c.2273T= (p.Leu758=) c.1862T= (p.Leu621=) c.2458T= (p.Ser820=) n.108+1865T= c.2318T= (p.Leu773=) c.2015T= (p.Leu672=) n.2406T= n.2730T= n.2373T=
19	g.11129519_11129535delinsTCGTCTTCCTTTGCCTG	CA2322780247	LDLR	c.2654_2670delinsTCGTCTTCCTTTGCCTG (p.Leu885=) c.465_481delinsTCGTCTTCCTTTGCCTG (n.465_481delinsTCGTCTTCCTTTGCCTG) c.2276_2292delinsTCGTCTTCCTTTGCCTG (p.Leu759=) c.2396_2412delinsTCGTCTTCCTTTGCCTG (p.Leu799=) c.2650_2666delinsTCGTCTTCCTTTGCCTG c.1892_1908delinsTCGTCTTCCTTTGCCTG (p.Leu631=) c.2273_2289delinsTCGTCTTCCTTTGCCTG (p.Leu758=) c.1862_1878delinsTCGTCTTCCTTTGCCTG (p.Leu621=) c.2458_2474delinsTCGTCTTCCTTTGCCTG (p.Ser820=) n.108+1865_108+1881delinsTCGTCTTCCTTTGCCTG c.2318_2334delinsTCGTCTTCCTTTGCCTG (p.Leu773=) c.2015_2031delinsTCGTCTTCCTTTGCCTG (p.Leu672=) n.2406_2422delinsTCGTCTTCCTTTGCCTG n.2730_2746delinsTCGTCTTCCTTTGCCTG n.2373_2389delinsTCGTCTTCCTTTGCCTG
19	g.11129520del	CA2695228329	LDLR	c.2655del (p.Val886SerfsTer?) c.466del (n.466del) c.2277del (p.Val760SerfsTer?) c.2397del (p.Val800SerfsTer?) c.2651del c.1893del (p.Val632SerfsTer?) c.2274del (p.Val759SerfsTer?) c.1863del (p.Val622SerfsTer?) c.2459del (p.Ser820CysfsTer17) n.108+1866del c.2319del (p.Val774SerfsTer?) c.2016del (p.Val673SerfsTer?) n.2407del n.2731del n.2374del
19	g.11129520C>A	CA404098256	LDLR	c.2655C>A (p.Leu885=) c.466C>A (n.466C>A) c.2277C>A (p.Leu759=) c.2397C>A (p.Leu799=) c.2651C>A c.1893C>A (p.Leu631=) c.2274C>A (p.Leu758=) c.1863C>A (p.Leu621=) c.2459C>A (p.Ser820Ter) n.108+1866C>A c.2319C>A (p.Leu773=) c.2016C>A (p.Leu672=) n.2407C>A n.2731C>A n.2374C>A
19	g.11129520C=	CA2322780248	LDLR	c.2655C= (p.Leu885=) c.466C= (n.466C=) c.2277C= (p.Leu759=) c.2397C= (p.Leu799=) c.2651C= c.1893C= (p.Leu631=) c.2274C= (p.Leu758=) c.1863C= (p.Leu621=) c.2459C= (p.Ser820=) n.108+1866C= c.2319C= (p.Leu773=) c.2016C= (p.Leu672=) n.2407C= n.2731C= n.2374C=
19	g.11129520C>G	CA404098261	LDLR	c.2655C>G (p.Leu885=) c.466C>G (n.466C>G) c.2277C>G (p.Leu759=) c.2397C>G (p.Leu799=) c.2651C>G c.1893C>G (p.Leu631=) c.2274C>G (p.Leu758=) c.1863C>G (p.Leu621=) c.2459C>G (p.Ser820Trp) n.108+1866C>G c.2319C>G (p.Leu773=) c.2016C>G (p.Leu672=) n.2407C>G n.2731C>G n.2374C>G
19	g.11129520C>T	CA040665	LDLR	c.2655C>T (p.Leu885=) c.466C>T (n.466C>T) c.2277C>T (p.Leu759=) c.2397C>T (p.Leu799=) c.2651C>T c.1893C>T (p.Leu631=) c.2274C>T (p.Leu758=) c.1863C>T (p.Leu621=) c.2459C>T (p.Ser820Leu) n.108+1866C>T c.2319C>T (p.Leu773=) c.2016C>T (p.Leu672=) n.2407C>T n.2731C>T n.2374C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129520_11129535del	CA10585851	LDLR	c.2655_2670del (p.Val886GlyfsTer?) c.466_481del (n.466_481del) c.2277_2292del (p.Val760GlyfsTer?) c.2397_2412del (p.Val800GlyfsTer?) c.2651_2666del c.1893_1908del (p.Val632GlyfsTer?) c.2274_2289del (p.Val759GlyfsTer?) c.1863_1878del (p.Val622GlyfsTer?) c.2459_2474del (p.Ser820TrpfsTer12) n.108+1866_108+1881del c.2319_2334del (p.Val774GlyfsTer?) c.2016_2031del (p.Val673GlyfsTer?) n.2407_2422del n.2731_2746del n.2374_2389del	ClinVar dbSNP
19	g.11129520_11129538delinsCGTCTTCCTTTGCCTGGGG	CA2322780249	LDLR	c.2655_2673delinsCGTCTTCCTTTGCCTGGGG (p.Leu885=) c.466_484delinsCGTCTTCCTTTGCCTGGGG (n.466_484delinsCGTCTTCCTTTGCCTGGGG) c.2277_2295delinsCGTCTTCCTTTGCCTGGGG (p.Leu759=) c.2397_2415delinsCGTCTTCCTTTGCCTGGGG (p.Leu799=) c.2651_2669delinsCGTCTTCCTTTGCCTGGGG c.1893_1911delinsCGTCTTCCTTTGCCTGGGG (p.Leu631=) c.2274_2292delinsCGTCTTCCTTTGCCTGGGG (p.Leu758=) c.1863_1881delinsCGTCTTCCTTTGCCTGGGG (p.Leu621=) c.2459_2477delinsCGTCTTCCTTTGCCTGGGG (p.Ser820=) n.108+1866_108+1884delinsCGTCTTCCTTTGCCTGGGG c.2319_2337delinsCGTCTTCCTTTGCCTGGGG (p.Leu773=) c.2016_2034delinsCGTCTTCCTTTGCCTGGGG (p.Leu672=) n.2407_2425delinsCGTCTTCCTTTGCCTGGGG n.2731_2749delinsCGTCTTCCTTTGCCTGGGG n.2374_2392delinsCGTCTTCCTTTGCCTGGGG
19	g.11129521G>A	CA023664	LDLR	c.2656G>A (p.Val886Ile) c.467G>A (n.467G>A) c.2278G>A (p.Val760Ile) c.2398G>A (p.Val800Ile) c.2652G>A c.1894G>A (p.Val632Ile) c.2275G>A (p.Val759Ile) c.1864G>A (p.Val622Ile) c.2460G>A (p.Ser820=) n.108+1867G>A c.2320G>A (p.Val774Ile) c.2017G>A (p.Val673Ile) n.2408G>A n.2732G>A n.2375G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129521G>C	CA404098276	LDLR	c.2656G>C (p.Val886Leu) c.467G>C (n.467G>C) c.2278G>C (p.Val760Leu) c.2398G>C (p.Val800Leu) c.2652G>C c.1894G>C (p.Val632Leu) c.2275G>C (p.Val759Leu) c.1864G>C (p.Val622Leu) c.2460G>C (p.Ser820=) n.108+1867G>C c.2320G>C (p.Val774Leu) c.2017G>C (p.Val673Leu) n.2408G>C n.2732G>C n.2375G>C
19	g.11129521G=	CA2322780251	LDLR	c.2656G= (p.Val886=) c.467G= (n.467G=) c.2278G= (p.Val760=) c.2398G= (p.Val800=) c.2652G= c.1894G= (p.Val632=) c.2275G= (p.Val759=) c.1864G= (p.Val622=) c.2460G= (p.Ser820=) n.108+1867G= c.2320G= (p.Val774=) c.2017G= (p.Val673=) n.2408G= n.2732G= n.2375G=
19	g.11129521G>T	CA040704	LDLR	c.2656G>T (p.Val886Phe) c.467G>T (n.467G>T) c.2278G>T (p.Val760Phe) c.2398G>T (p.Val800Phe) c.2652G>T c.1894G>T (p.Val632Phe) c.2275G>T (p.Val759Phe) c.1864G>T (p.Val622Phe) c.2460G>T (p.Ser820=) n.108+1867G>T c.2320G>T (p.Val774Phe) c.2017G>T (p.Val673Phe) n.2408G>T n.2732G>T n.2375G>T	dbSNP ExAC gnomAD v4
19	g.11129521_11129526delinsGTCTTC	CA2322780250	LDLR	c.2656_2661delinsGTCTTC (p.Val886=) c.467_472delinsGTCTTC (n.467_472delinsGTCTTC) c.2278_2283delinsGTCTTC (p.Val760=) c.2398_2403delinsGTCTTC (p.Val800=) c.2652_2657delinsGTCTTC c.1894_1899delinsGTCTTC (p.Val632=) c.2275_2280delinsGTCTTC (p.Val759=) c.1864_1869delinsGTCTTC (p.Val622=) c.2460_2465delinsGTCTTC (p.Ser820=) n.108+1867_108+1872delinsGTCTTC c.2320_2325delinsGTCTTC (p.Val774=) c.2017_2022delinsGTCTTC (p.Val673=) n.2408_2413delinsGTCTTC n.2732_2737delinsGTCTTC n.2375_2380delinsGTCTTC
19	g.11129530_11129547dup	CA10585855	LDLR	c.2665_2682dup (p.Leu894_Leu895insCysLeuGlyValPheLeu) c.476_493dup (n.476_493dup) c.2287_2304dup (p.Leu768_Leu769insCysLeuGlyValPheLeu) c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu) c.2661_2678dup c.1903_1920dup (p.Leu640_Leu641insCysLeuGlyValPheLeu) c.2284_2301dup (p.Leu767_Leu768insCysLeuGlyValPheLeu) c.1873_1890dup (p.Leu630_Leu631insCysLeuGlyValPheLeu) c.2469_2486dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe) n.108+1876_108+1893dup c.2329_2346dup (p.Leu782_Leu783insCysLeuGlyValPheLeu) c.2026_2043dup (p.Leu681_Leu682insCysLeuGlyValPheLeu) n.2417_2434dup n.2741_2758dup n.2384_2401dup	ClinVar dbSNP
19	g.11129530_11129547del	CA645509300	LDLR	c.2665_2682del (p.Cys889_Leu894del) c.476_493del (n.476_493del) c.2287_2304del (p.Cys763_Leu768del) c.2407_2424del (p.Cys803_Leu808del) c.2661_2678del c.1903_1920del (p.Cys635_Leu640del) c.2284_2301del (p.Cys762_Leu767del) c.1873_1890del (p.Cys625_Leu630del) c.2469_2486del (p.Ala824_Phe829del) n.108+1876_108+1893del c.2329_2346del (p.Cys777_Leu782del) c.2026_2043del (p.Cys676_Leu681del) n.2417_2434del n.2741_2758del n.2384_2401del	ClinVar dbSNP
19	g.11129522T>A	CA10585852	LDLR	c.2657T>A (p.Val886Asp) c.468T>A (n.468T>A) c.2279T>A (p.Val760Asp) c.2399T>A (p.Val800Asp) c.2653T>A c.1895T>A (p.Val632Asp) c.2276T>A (p.Val759Asp) c.1865T>A (p.Val622Asp) c.2461T>A (p.Ser821Thr) n.108+1868T>A c.2321T>A (p.Val774Asp) c.2018T>A (p.Val673Asp) n.2409T>A n.2733T>A n.2376T>A	ClinVar dbSNP gnomAD v4
19	g.11129522T>C	CA404098282	LDLR	c.2657T>C (p.Val886Ala) c.468T>C (n.468T>C) c.2279T>C (p.Val760Ala) c.2399T>C (p.Val800Ala) c.2653T>C c.1895T>C (p.Val632Ala) c.2276T>C (p.Val759Ala) c.1865T>C (p.Val622Ala) c.2461T>C (p.Ser821Pro) n.108+1868T>C c.2321T>C (p.Val774Ala) c.2018T>C (p.Val673Ala) n.2409T>C n.2733T>C n.2376T>C	gnomAD v4
19	g.11129522T>G	CA404098283	LDLR	c.2657T>G (p.Val886Gly) c.468T>G (n.468T>G) c.2279T>G (p.Val760Gly) c.2399T>G (p.Val800Gly) c.2653T>G c.1895T>G (p.Val632Gly) c.2276T>G (p.Val759Gly) c.1865T>G (p.Val622Gly) c.2461T>G (p.Ser821Ala) n.108+1868T>G c.2321T>G (p.Val774Gly) c.2018T>G (p.Val673Gly) n.2409T>G n.2733T>G n.2376T>G
19	g.11129522T=	CA2322780252	LDLR	c.2657T= (p.Val886=) c.468T= (n.468T=) c.2279T= (p.Val760=) c.2399T= (p.Val800=) c.2653T= c.1895T= (p.Val632=) c.2276T= (p.Val759=) c.1865T= (p.Val622=) c.2461T= (p.Ser821=) n.108+1868T= c.2321T= (p.Val774=) c.2018T= (p.Val673=) n.2409T= n.2733T= n.2376T=
19	g.11129522_11129526delinsGGGT	CA10585853	LDLR	c.2657_2661delinsGGGT (p.Val886GlyfsTer?) c.468_472delinsGGGT (n.468_472delinsGGGT) c.2279_2283delinsGGGT (p.Val760GlyfsTer?) c.2399_2403delinsGGGT (p.Val800GlyfsTer?) c.2653_2657delinsGGGT c.1895_1899delinsGGGT (p.Val632GlyfsTer?) c.2276_2280delinsGGGT (p.Val759GlyfsTer?) c.1865_1869delinsGGGT (p.Val622GlyfsTer?) c.2461_2465delinsGGGT (p.Ser821GlyfsTer16) n.108+1868_108+1872delinsGGGT c.2321_2325delinsGGGT (p.Val774GlyfsTer?) c.2018_2022delinsGGGT (p.Val673GlyfsTer?) n.2409_2413delinsGGGT n.2733_2737delinsGGGT n.2376_2380delinsGGGT	ClinVar dbSNP
19	g.11129522_11129526delinsTCTTC	CA2322780253	LDLR	c.2657_2661delinsTCTTC (p.Val886=) c.468_472delinsTCTTC (n.468_472delinsTCTTC) c.2279_2283delinsTCTTC (p.Val760=) c.2399_2403delinsTCTTC (p.Val800=) c.2653_2657delinsTCTTC c.1895_1899delinsTCTTC (p.Val632=) c.2276_2280delinsTCTTC (p.Val759=) c.1865_1869delinsTCTTC (p.Val622=) c.2461_2465delinsTCTTC (p.Ser821=) n.108+1868_108+1872delinsTCTTC c.2321_2325delinsTCTTC (p.Val774=) c.2018_2022delinsTCTTC (p.Val673=) n.2409_2413delinsTCTTC n.2733_2737delinsTCTTC n.2376_2380delinsTCTTC
19	g.11129523C>A	CA404098297	LDLR	c.2658C>A (p.Val886=) c.469C>A (n.469C>A) c.2280C>A (p.Val760=) c.2400C>A (p.Val800=) c.2654C>A c.1896C>A (p.Val632=) c.2277C>A (p.Val759=) c.1866C>A (p.Val622=) c.2462C>A (p.Ser821Tyr) n.108+1869C>A c.2322C>A (p.Val774=) c.2019C>A (p.Val673=) n.2410C>A n.2734C>A n.2377C>A
19	g.11129523C>G	CA404098289	LDLR	c.2658C>G (p.Val886=) c.469C>G (n.469C>G) c.2280C>G (p.Val760=) c.2400C>G (p.Val800=) c.2654C>G c.1896C>G (p.Val632=) c.2277C>G (p.Val759=) c.1866C>G (p.Val622=) c.2462C>G (p.Ser821Cys) n.108+1869C>G c.2322C>G (p.Val774=) c.2019C>G (p.Val673=) n.2410C>G n.2734C>G n.2377C>G
19	g.11129523C>T	CA404098294	LDLR	c.2658C>T (p.Val886=) c.469C>T (n.469C>T) c.2280C>T (p.Val760=) c.2400C>T (p.Val800=) c.2654C>T c.1896C>T (p.Val632=) c.2277C>T (p.Val759=) c.1866C>T (p.Val622=) c.2462C>T (p.Ser821Phe) n.108+1869C>T c.2322C>T (p.Val774=) c.2019C>T (p.Val673=) n.2410C>T n.2734C>T n.2377C>T
19	g.11129523dup	CA915952555	LDLR	c.2658dup (p.Phe887LeufsTer16) c.469dup (n.469dup) c.2280dup (p.Phe761LeufsTer16) c.2400dup (p.Phe801LeufsTer16) c.2654dup c.1896dup (p.Phe633LeufsTer16) c.2277dup (p.Phe760LeufsTer16) c.1866dup (p.Phe623LeufsTer16) c.2462dup (p.Ser822PhefsTer?) n.108+1869dup c.2322dup (p.Phe775LeufsTer16) c.2019dup (p.Phe674LeufsTer16) n.2410dup n.2734dup n.2377dup	ClinVar dbSNP
19	g.11129523_11129524delinsCT	CA2322780254	LDLR	c.2658_2659delinsCT (p.Val886=) c.469_470delinsCT (n.469_470delinsCT) c.2280_2281delinsCT (p.Val760=) c.2400_2401delinsCT (p.Val800=) c.2654_2655delinsCT c.1896_1897delinsCT (p.Val632=) c.2277_2278delinsCT (p.Val759=) c.1866_1867delinsCT (p.Val622=) c.2462_2463delinsCT (p.Ser821=) n.108+1869_108+1870delinsCT c.2322_2323delinsCT (p.Val774=) c.2019_2020delinsCT (p.Val673=) n.2410_2411delinsCT n.2734_2735delinsCT n.2377_2378delinsCT
19	g.11129526_11129529del	CA10585854	LDLR	c.2661_2664del (p.Leu888AlafsTer?) c.472_475del (n.472_475del) c.2283_2286del (p.Leu762AlafsTer?) c.2403_2406del (p.Leu802AlafsTer?) c.2657_2660del c.1899_1902del (p.Leu634AlafsTer?) c.2280_2283del (p.Leu761AlafsTer?) c.1869_1872del (p.Leu624AlafsTer?) c.2465_2468del (p.Ser822LeufsTer14) n.108+1872_108+1875del c.2325_2328del (p.Leu776AlafsTer?) c.2022_2025del (p.Leu675AlafsTer?) n.2413_2416del n.2737_2740del n.2380_2383del	ClinVar dbSNP
19	g.11129524T>A	CA404098301	LDLR	c.2659T>A (p.Phe887Ile) c.470T>A (n.470T>A) c.2281T>A (p.Phe761Ile) c.2401T>A (p.Phe801Ile) c.2655T>A c.1897T>A (p.Phe633Ile) c.2278T>A (p.Phe760Ile) c.1867T>A (p.Phe623Ile) c.2463T>A (p.Ser821=) n.108+1870T>A c.2323T>A (p.Phe775Ile) c.2020T>A (p.Phe674Ile) n.2411T>A n.2735T>A n.2378T>A
19	g.11129524T>C	CA404098304	LDLR	c.2659T>C (p.Phe887Leu) c.470T>C (n.470T>C) c.2281T>C (p.Phe761Leu) c.2401T>C (p.Phe801Leu) c.2655T>C c.1897T>C (p.Phe633Leu) c.2278T>C (p.Phe760Leu) c.1867T>C (p.Phe623Leu) c.2463T>C (p.Ser821=) n.108+1870T>C c.2323T>C (p.Phe775Leu) c.2020T>C (p.Phe674Leu) n.2411T>C n.2735T>C n.2378T>C
19	g.11129524T>G	CA404098308	LDLR	c.2659T>G (p.Phe887Val) c.470T>G (n.470T>G) c.2281T>G (p.Phe761Val) c.2401T>G (p.Phe801Val) c.2655T>G c.1897T>G (p.Phe633Val) c.2278T>G (p.Phe760Val) c.1867T>G (p.Phe623Val) c.2463T>G (p.Ser821=) n.108+1870T>G c.2323T>G (p.Phe775Val) c.2020T>G (p.Phe674Val) n.2411T>G n.2735T>G n.2378T>G
19	g.11129525del	CA645509301	LDLR	c.2660del (p.Phe887SerfsTer?) c.471del (n.471del) c.2282del (p.Phe761SerfsTer?) c.2402del (p.Phe801SerfsTer?) c.2656del c.1898del (p.Phe633SerfsTer?) c.2279del (p.Phe760SerfsTer?) c.1868del (p.Phe623SerfsTer?) c.2464del (p.Ser822ProfsTer15) n.108+1871del c.2324del (p.Phe775SerfsTer?) c.2021del (p.Phe674SerfsTer?) n.2412del n.2736del n.2379del	ClinVar dbSNP
19	g.11129524_11129526delinsTTC	CA2322780255	LDLR	c.2659_2661delinsTTC (p.Phe887=) c.470_472delinsTTC (n.470_472delinsTTC) c.2281_2283delinsTTC (p.Phe761=) c.2401_2403delinsTTC (p.Phe801=) c.2655_2657delinsTTC c.1897_1899delinsTTC (p.Phe633=) c.2278_2280delinsTTC (p.Phe760=) c.1867_1869delinsTTC (p.Phe623=) c.2463_2465delinsTTC (p.Ser821=) n.108+1870_108+1872delinsTTC c.2323_2325delinsTTC (p.Phe775=) c.2020_2022delinsTTC (p.Phe674=) n.2411_2413delinsTTC n.2735_2737delinsTTC n.2378_2380delinsTTC
19	g.11129525T>A	CA404098318	LDLR	c.2660T>A (p.Phe887Tyr) c.471T>A (n.471T>A) c.2282T>A (p.Phe761Tyr) c.2402T>A (p.Phe801Tyr) c.2656T>A c.1898T>A (p.Phe633Tyr) c.2279T>A (p.Phe760Tyr) c.1868T>A (p.Phe623Tyr) c.2464T>A (p.Ser822Thr) n.108+1871T>A c.2324T>A (p.Phe775Tyr) c.2021T>A (p.Phe674Tyr) n.2412T>A n.2736T>A n.2379T>A
19	g.11129525T>C	CA404098326	LDLR	c.2660T>C (p.Phe887Ser) c.471T>C (n.471T>C) c.2282T>C (p.Phe761Ser) c.2402T>C (p.Phe801Ser) c.2656T>C c.1898T>C (p.Phe633Ser) c.2279T>C (p.Phe760Ser) c.1868T>C (p.Phe623Ser) c.2464T>C (p.Ser822Pro) n.108+1871T>C c.2324T>C (p.Phe775Ser) c.2021T>C (p.Phe674Ser) n.2412T>C n.2736T>C n.2379T>C
19	g.11129525T>G	CA404098329	LDLR	c.2660T>G (p.Phe887Cys) c.471T>G (n.471T>G) c.2282T>G (p.Phe761Cys) c.2402T>G (p.Phe801Cys) c.2656T>G c.1898T>G (p.Phe633Cys) c.2279T>G (p.Phe760Cys) c.1868T>G (p.Phe623Cys) c.2464T>G (p.Ser822Ala) n.108+1871T>G c.2324T>G (p.Phe775Cys) c.2021T>G (p.Phe674Cys) n.2412T>G n.2736T>G n.2379T>G	dbSNP gnomAD v4
19	g.11129525T=	CA2322780256	LDLR	c.2660T= (p.Phe887=) c.471T= (n.471T=) c.2282T= (p.Phe761=) c.2402T= (p.Phe801=) c.2656T= c.1898T= (p.Phe633=) c.2279T= (p.Phe760=) c.1868T= (p.Phe623=) c.2464T= (p.Ser822=) n.108+1871T= c.2324T= (p.Phe775=) c.2021T= (p.Phe674=) n.2412T= n.2736T= n.2379T=
19	g.11129525_11129526del	CA16602352	LDLR	c.2660_2661del (p.Phe887SerfsTer15) c.471_472del (n.471_472del) c.2282_2283del (p.Phe761SerfsTer15) c.2402_2403del (p.Phe801SerfsTer15) c.2656_2657del c.1898_1899del (p.Phe633SerfsTer15) c.2279_2280del (p.Phe760SerfsTer15) c.1868_1869del (p.Phe623SerfsTer15) c.2464_2465del (p.Ser822LeufsTer?) n.108+1871_108+1872del c.2324_2325del (p.Phe775SerfsTer15) c.2021_2022del (p.Phe674SerfsTer15) n.2412_2413del n.2736_2737del n.2379_2380del	ClinVar dbSNP
19	g.11129526C>A	CA404098332	LDLR	c.2661C>A (p.Phe887Leu) c.472C>A (n.472C>A) c.2283C>A (p.Phe761Leu) c.2403C>A (p.Phe801Leu) c.2657C>A c.1899C>A (p.Phe633Leu) c.2280C>A (p.Phe760Leu) c.1869C>A (p.Phe623Leu) c.2465C>A (p.Ser822Tyr) n.108+1872C>A c.2325C>A (p.Phe775Leu) c.2022C>A (p.Phe674Leu) n.2413C>A n.2737C>A n.2380C>A
19	g.11129526C>G	CA404098336	LDLR	c.2661C>G (p.Phe887Leu) c.472C>G (n.472C>G) c.2283C>G (p.Phe761Leu) c.2403C>G (p.Phe801Leu) c.2657C>G c.1899C>G (p.Phe633Leu) c.2280C>G (p.Phe760Leu) c.1869C>G (p.Phe623Leu) c.2465C>G (p.Ser822Cys) n.108+1872C>G c.2325C>G (p.Phe775Leu) c.2022C>G (p.Phe674Leu) n.2413C>G n.2737C>G n.2380C>G
19	g.11129526C>T	CA404098339	LDLR	c.2661C>T (p.Phe887=) c.472C>T (n.472C>T) c.2283C>T (p.Phe761=) c.2403C>T (p.Phe801=) c.2657C>T c.1899C>T (p.Phe633=) c.2280C>T (p.Phe760=) c.1869C>T (p.Phe623=) c.2465C>T (p.Ser822Phe) n.108+1872C>T c.2325C>T (p.Phe775=) c.2022C>T (p.Phe674=) n.2413C>T n.2737C>T n.2380C>T	ClinVar dbSNP COSMIC
19	g.11129527C>A	CA404098354	LDLR	c.2662C>A (p.Leu888Ile) c.473C>A (n.473C>A) c.2284C>A (p.Leu762Ile) c.2404C>A (p.Leu802Ile) c.2658C>A c.1900C>A (p.Leu634Ile) c.2281C>A (p.Leu761Ile) c.1870C>A (p.Leu624Ile) c.2466C>A (p.Ser822=) n.108+1873C>A c.2326C>A (p.Leu776Ile) c.2023C>A (p.Leu675Ile) n.2414C>A n.2738C>A n.2381C>A
19	g.11129527C=	CA2322780257	LDLR	c.2662C= (p.Leu888=) c.473C= (n.473C=) c.2284C= (p.Leu762=) c.2404C= (p.Leu802=) c.2658C= c.1900C= (p.Leu634=) c.2281C= (p.Leu761=) c.1870C= (p.Leu624=) c.2466C= (p.Ser822=) n.108+1873C= c.2326C= (p.Leu776=) c.2023C= (p.Leu675=) n.2414C= n.2738C= n.2381C=
19	g.11129527C>G	CA404098345	LDLR	c.2662C>G (p.Leu888Val) c.473C>G (n.473C>G) c.2284C>G (p.Leu762Val) c.2404C>G (p.Leu802Val) c.2658C>G c.1900C>G (p.Leu634Val) c.2281C>G (p.Leu761Val) c.1870C>G (p.Leu624Val) c.2466C>G (p.Ser822=) n.108+1873C>G c.2326C>G (p.Leu776Val) c.2023C>G (p.Leu675Val) n.2414C>G n.2738C>G n.2381C>G
19	g.11129527C>T	CA404098366	LDLR	c.2662C>T (p.Leu888Phe) c.473C>T (n.473C>T) c.2284C>T (p.Leu762Phe) c.2404C>T (p.Leu802Phe) c.2658C>T c.1900C>T (p.Leu634Phe) c.2281C>T (p.Leu761Phe) c.1870C>T (p.Leu624Phe) c.2466C>T (p.Ser822=) n.108+1873C>T c.2326C>T (p.Leu776Phe) c.2023C>T (p.Leu675Phe) n.2414C>T n.2738C>T n.2381C>T	dbSNP gnomAD v2 gnomAD v4
19	g.11129528T>A	CA404098369	LDLR	c.2663T>A (p.Leu888His) c.474T>A (n.474T>A) c.2285T>A (p.Leu762His) c.2405T>A (p.Leu802His) c.2659T>A c.1901T>A (p.Leu634His) c.2282T>A (p.Leu761His) c.1871T>A (p.Leu624His) c.2467T>A (p.Phe823Ile) n.108+1874T>A c.2327T>A (p.Leu776His) c.2024T>A (p.Leu675His) n.2415T>A n.2739T>A n.2382T>A
19	g.11129528T>C	CA404098371	LDLR	c.2663T>C (p.Leu888Pro) c.474T>C (n.474T>C) c.2285T>C (p.Leu762Pro) c.2405T>C (p.Leu802Pro) c.2659T>C c.1901T>C (p.Leu634Pro) c.2282T>C (p.Leu761Pro) c.1871T>C (p.Leu624Pro) c.2467T>C (p.Phe823Leu) n.108+1874T>C c.2327T>C (p.Leu776Pro) c.2024T>C (p.Leu675Pro) n.2415T>C n.2739T>C n.2382T>C
19	g.11129528T>G	CA404098375	LDLR	c.2663T>G (p.Leu888Arg) c.474T>G (n.474T>G) c.2285T>G (p.Leu762Arg) c.2405T>G (p.Leu802Arg) c.2659T>G c.1901T>G (p.Leu634Arg) c.2282T>G (p.Leu761Arg) c.1871T>G (p.Leu624Arg) c.2467T>G (p.Phe823Val) n.108+1874T>G c.2327T>G (p.Leu776Arg) c.2024T>G (p.Leu675Arg) n.2415T>G n.2739T>G n.2382T>G
19	g.11129529T>A	CA404098381	LDLR	c.2664T>A (p.Leu888=) c.475T>A (n.475T>A) c.2286T>A (p.Leu762=) c.2406T>A (p.Leu802=) c.2660T>A c.1902T>A (p.Leu634=) c.2283T>A (p.Leu761=) c.1872T>A (p.Leu624=) c.2468T>A (p.Phe823Tyr) n.108+1875T>A c.2328T>A (p.Leu776=) c.2025T>A (p.Leu675=) n.2416T>A n.2740T>A n.2383T>A	ClinVar gnomAD v4
19	g.11129529T>C	CA404098388	LDLR	c.2664T>C (p.Leu888=) c.475T>C (n.475T>C) c.2286T>C (p.Leu762=) c.2406T>C (p.Leu802=) c.2660T>C c.1902T>C (p.Leu634=) c.2283T>C (p.Leu761=) c.1872T>C (p.Leu624=) c.2468T>C (p.Phe823Ser) n.108+1875T>C c.2328T>C (p.Leu776=) c.2025T>C (p.Leu675=) n.2416T>C n.2740T>C n.2383T>C	dbSNP
19	g.11129529T>G	CA404098397	LDLR	c.2664T>G (p.Leu888=) c.475T>G (n.475T>G) c.2286T>G (p.Leu762=) c.2406T>G (p.Leu802=) c.2660T>G c.1902T>G (p.Leu634=) c.2283T>G (p.Leu761=) c.1872T>G (p.Leu624=) c.2468T>G (p.Phe823Cys) n.108+1875T>G c.2328T>G (p.Leu776=) c.2025T>G (p.Leu675=) n.2416T>G n.2740T>G n.2383T>G
19	g.11129530T>A	CA404098400	LDLR	c.2665T>A (p.Cys889Ser) c.476T>A (n.476T>A) c.2287T>A (p.Cys763Ser) c.2407T>A (p.Cys803Ser) c.2661T>A c.1903T>A (p.Cys635Ser) c.2284T>A (p.Cys762Ser) c.1873T>A (p.Cys625Ser) c.2469T>A (p.Phe823Leu) n.108+1876T>A c.2329T>A (p.Cys777Ser) c.2026T>A (p.Cys676Ser) n.2417T>A n.2741T>A n.2384T>A
19	g.11129530T>C	CA16609822	LDLR	c.2665T>C (p.Cys889Arg) c.476T>C (n.476T>C) c.2287T>C (p.Cys763Arg) c.2407T>C (p.Cys803Arg) c.2661T>C c.1903T>C (p.Cys635Arg) c.2284T>C (p.Cys762Arg) c.1873T>C (p.Cys625Arg) c.2469T>C (p.Phe823=) n.108+1876T>C c.2329T>C (p.Cys777Arg) c.2026T>C (p.Cys676Arg) n.2417T>C n.2741T>C n.2384T>C	ClinVar dbSNP
19	g.11129530T>G	CA404098402	LDLR	c.2665T>G (p.Cys889Gly) c.476T>G (n.476T>G) c.2287T>G (p.Cys763Gly) c.2407T>G (p.Cys803Gly) c.2661T>G c.1903T>G (p.Cys635Gly) c.2284T>G (p.Cys762Gly) c.1873T>G (p.Cys625Gly) c.2469T>G (p.Phe823Leu) n.108+1876T>G c.2329T>G (p.Cys777Gly) c.2026T>G (p.Cys676Gly) n.2417T>G n.2741T>G n.2384T>G
19	g.11129530T=	CA2322780258	LDLR	c.2665T= (p.Cys889=) c.476T= (n.476T=) c.2287T= (p.Cys763=) c.2407T= (p.Cys803=) c.2661T= c.1903T= (p.Cys635=) c.2284T= (p.Cys762=) c.1873T= (p.Cys625=) c.2469T= (p.Phe823=) n.108+1876T= c.2329T= (p.Cys777=) c.2026T= (p.Cys676=) n.2417T= n.2741T= n.2384T=
19	g.11129531del	CA2695228330	LDLR	c.2666del (p.Cys889SerfsTer?) c.477del (n.477del) c.2288del (p.Cys763SerfsTer?) c.2408del (p.Cys803SerfsTer?) c.2662del c.1904del (p.Cys635SerfsTer?) c.2285del (p.Cys762SerfsTer?) c.1874del (p.Cys625SerfsTer?) c.2470del (p.Ala824ProfsTer13) n.108+1877del c.2330del (p.Cys777SerfsTer?) c.2027del (p.Cys676SerfsTer?) n.2418del n.2742del n.2385del
19	g.11129531G>A	CA404098408	LDLR	c.2666G>A (p.Cys889Tyr) c.477G>A (n.477G>A) c.2288G>A (p.Cys763Tyr) c.2408G>A (p.Cys803Tyr) c.2662G>A c.1904G>A (p.Cys635Tyr) c.2285G>A (p.Cys762Tyr) c.1874G>A (p.Cys625Tyr) c.2470G>A (p.Ala824Thr) n.108+1877G>A c.2330G>A (p.Cys777Tyr) c.2027G>A (p.Cys676Tyr) n.2418G>A n.2742G>A n.2385G>A	gnomAD v4
19	g.11129531G>C	CA404098407	LDLR	c.2666G>C (p.Cys889Ser) c.477G>C (n.477G>C) c.2288G>C (p.Cys763Ser) c.2408G>C (p.Cys803Ser) c.2662G>C c.1904G>C (p.Cys635Ser) c.2285G>C (p.Cys762Ser) c.1874G>C (p.Cys625Ser) c.2470G>C (p.Ala824Pro) n.108+1877G>C c.2330G>C (p.Cys777Ser) c.2027G>C (p.Cys676Ser) n.2418G>C n.2742G>C n.2385G>C	ClinVar gnomAD v4
19	g.11129531G>T	CA404098406	LDLR	c.2666G>T (p.Cys889Phe) c.477G>T (n.477G>T) c.2288G>T (p.Cys763Phe) c.2408G>T (p.Cys803Phe) c.2662G>T c.1904G>T (p.Cys635Phe) c.2285G>T (p.Cys762Phe) c.1874G>T (p.Cys625Phe) c.2470G>T (p.Ala824Ser) n.108+1877G>T c.2330G>T (p.Cys777Phe) c.2027G>T (p.Cys676Phe) n.2418G>T n.2742G>T n.2385G>T
19	g.11129531_11129532dup	CA10585856	LDLR	c.2666_2667dup (p.Leu890AlafsTer?) c.477_478dup (n.477_478dup) c.2288_2289dup (p.Leu764AlafsTer?) c.2408_2409dup (p.Leu804AlafsTer?) c.2662_2663dup c.1904_1905dup (p.Leu636AlafsTer?) c.2285_2286dup (p.Leu763AlafsTer?) c.1874_1875dup (p.Leu626AlafsTer?) c.2470_2471dup (p.Trp825ProfsTer13) n.108+1877_108+1878dup c.2330_2331dup (p.Leu778AlafsTer?) c.2027_2028dup (p.Leu677AlafsTer?) n.2418_2419dup n.2742_2743dup n.2385_2386dup	ClinVar dbSNP
19	g.11129531_11129548dup	CA2739276489	LDLR	c.2666_2683dup (p.Leu894_Leu895insArgLeuGlyValPheLeu) c.477_494dup (n.477_494dup) c.2288_2305dup (p.Leu768_Leu769insArgLeuGlyValPheLeu) c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu) c.2662_2679dup c.1904_1921dup (p.Leu640_Leu641insArgLeuGlyValPheLeu) c.2285_2302dup (p.Leu767_Leu768insArgLeuGlyValPheLeu) c.1874_1891dup (p.Leu630_Leu631insArgLeuGlyValPheLeu) c.2470_2487dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe) n.108+1877_108+1894dup c.2330_2347dup (p.Leu782_Leu783insArgLeuGlyValPheLeu) c.2027_2044dup (p.Leu681_Leu682insArgLeuGlyValPheLeu) n.2418_2435dup n.2742_2759dup n.2385_2402dup	ClinVar
19	g.11129532C>A	CA404098409	LDLR	c.2667C>A (p.Cys889Ter) c.478C>A (n.478C>A) c.2289C>A (p.Cys763Ter) c.2409C>A (p.Cys803Ter) c.2663C>A c.1905C>A (p.Cys635Ter) c.2286C>A (p.Cys762Ter) c.1875C>A (p.Cys625Ter) c.2471C>A (p.Ala824Asp) n.108+1878C>A c.2331C>A (p.Cys777Ter) c.2028C>A (p.Cys676Ter) n.2419C>A n.2743C>A n.2386C>A	dbSNP
19	g.11129532C=	CA2322780259	LDLR	c.2667C= (p.Cys889=) c.478C= (n.478C=) c.2289C= (p.Cys763=) c.2409C= (p.Cys803=) c.2663C= c.1905C= (p.Cys635=) c.2286C= (p.Cys762=) c.1875C= (p.Cys625=) c.2471C= (p.Ala824=) n.108+1878C= c.2331C= (p.Cys777=) c.2028C= (p.Cys676=) n.2419C= n.2743C= n.2386C=
19	g.11129532C>G	CA404098411	LDLR	c.2667C>G (p.Cys889Trp) c.478C>G (n.478C>G) c.2289C>G (p.Cys763Trp) c.2409C>G (p.Cys803Trp) c.2663C>G c.1905C>G (p.Cys635Trp) c.2286C>G (p.Cys762Trp) c.1875C>G (p.Cys625Trp) c.2471C>G (p.Ala824Gly) n.108+1878C>G c.2331C>G (p.Cys777Trp) c.2028C>G (p.Cys676Trp) n.2419C>G n.2743C>G n.2386C>G
19	g.11129532C>T	CA404098413	LDLR	c.2667C>T (p.Cys889=) c.478C>T (n.478C>T) c.2289C>T (p.Cys763=) c.2409C>T (p.Cys803=) c.2663C>T c.1905C>T (p.Cys635=) c.2286C>T (p.Cys762=) c.1875C>T (p.Cys625=) c.2471C>T (p.Ala824Val) n.108+1878C>T c.2331C>T (p.Cys777=) c.2028C>T (p.Cys676=) n.2419C>T n.2743C>T n.2386C>T	ClinVar dbSNP
19	g.11129533C>A	CA404098416	LDLR	c.2668C>A (p.Leu890Met) c.479C>A (n.479C>A) c.2290C>A (p.Leu764Met) c.2410C>A (p.Leu804Met) c.2664C>A c.1906C>A (p.Leu636Met) c.2287C>A (p.Leu763Met) c.1876C>A (p.Leu626Met) c.2472C>A (p.Ala824=) n.108+1879C>A c.2332C>A (p.Leu778Met) c.2029C>A (p.Leu677Met) n.2420C>A n.2744C>A n.2387C>A	dbSNP
19	g.11129533C=	CA2322780260	LDLR	c.2668C= (p.Leu890=) c.479C= (n.479C=) c.2290C= (p.Leu764=) c.2410C= (p.Leu804=) c.2664C= c.1906C= (p.Leu636=) c.2287C= (p.Leu763=) c.1876C= (p.Leu626=) c.2472C= (p.Ala824=) n.108+1879C= c.2332C= (p.Leu778=) c.2029C= (p.Leu677=) n.2420C= n.2744C= n.2387C=
19	g.11129533C>G	CA404098419	LDLR	c.2668C>G (p.Leu890Val) c.479C>G (n.479C>G) c.2290C>G (p.Leu764Val) c.2410C>G (p.Leu804Val) c.2664C>G c.1906C>G (p.Leu636Val) c.2287C>G (p.Leu763Val) c.1876C>G (p.Leu626Val) c.2472C>G (p.Ala824=) n.108+1879C>G c.2332C>G (p.Leu778Val) c.2029C>G (p.Leu677Val) n.2420C>G n.2744C>G n.2387C>G
19	g.11129533C>T	CA505743515	LDLR	c.2668C>T (p.Leu890=) c.479C>T (n.479C>T) c.2290C>T (p.Leu764=) c.2410C>T (p.Leu804=) c.2664C>T c.1906C>T (p.Leu636=) c.2287C>T (p.Leu763=) c.1876C>T (p.Leu626=) c.2472C>T (p.Ala824=) n.108+1879C>T c.2332C>T (p.Leu778=) c.2029C>T (p.Leu677=) n.2420C>T n.2744C>T n.2387C>T	ClinVar
19	g.11129533_11129534dup	CA645611974	LDLR	c.2668_2669dup (p.Gly891TrpfsTer?) c.479_480dup (n.479_480dup) c.2290_2291dup (p.Gly765TrpfsTer?) c.2410_2411dup (p.Gly805TrpfsTer?) c.2664_2665dup c.1906_1907dup (p.Gly637TrpfsTer?) c.2287_2288dup (p.Gly764TrpfsTer?) c.1876_1877dup (p.Gly627TrpfsTer?) c.2472_2473dup (p.Trp825SerfsTer13) n.108+1879_108+1880dup c.2332_2333dup (p.Gly779TrpfsTer?) c.2029_2030dup (p.Gly678TrpfsTer?) n.2420_2421dup n.2744_2745dup n.2387_2388dup	COSMIC
19	g.11129534del	CA2695228331	LDLR	c.2669del (p.Leu890ArgfsTer?) c.480del (n.480del) c.2291del (p.Leu764ArgfsTer?) c.2411del (p.Leu804ArgfsTer?) c.2665del c.1907del (p.Leu636ArgfsTer?) c.2288del (p.Leu763ArgfsTer?) c.1877del (p.Leu626ArgfsTer?) c.2473del (p.Trp825GlyfsTer12) n.108+1880del c.2333del (p.Leu778ArgfsTer?) c.2030del (p.Leu677ArgfsTer?) n.2421del n.2745del n.2388del
19	g.11129534T>A	CA404098423	LDLR	c.2669T>A (p.Leu890Gln) c.480T>A (n.480T>A) c.2291T>A (p.Leu764Gln) c.2411T>A (p.Leu804Gln) c.2665T>A c.1907T>A (p.Leu636Gln) c.2288T>A (p.Leu763Gln) c.1877T>A (p.Leu626Gln) c.2473T>A (p.Trp825Arg) n.108+1880T>A c.2333T>A (p.Leu778Gln) c.2030T>A (p.Leu677Gln) n.2421T>A n.2745T>A n.2388T>A
19	g.11129534T>C	CA10585857	LDLR	c.2669T>C (p.Leu890Pro) c.480T>C (n.480T>C) c.2291T>C (p.Leu764Pro) c.2411T>C (p.Leu804Pro) c.2665T>C c.1907T>C (p.Leu636Pro) c.2288T>C (p.Leu763Pro) c.1877T>C (p.Leu626Pro) c.2473T>C (p.Trp825Arg) n.108+1880T>C c.2333T>C (p.Leu778Pro) c.2030T>C (p.Leu677Pro) n.2421T>C n.2745T>C n.2388T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129534T>G	CA404098426	LDLR	c.2669T>G (p.Leu890Arg) c.480T>G (n.480T>G) c.2291T>G (p.Leu764Arg) c.2411T>G (p.Leu804Arg) c.2665T>G c.1907T>G (p.Leu636Arg) c.2288T>G (p.Leu763Arg) c.1877T>G (p.Leu626Arg) c.2473T>G (p.Trp825Gly) n.108+1880T>G c.2333T>G (p.Leu778Arg) c.2030T>G (p.Leu677Arg) n.2421T>G n.2745T>G n.2388T>G
19	g.11129534T=	CA2322780262	LDLR	c.2669T= (p.Leu890=) c.480T= (n.480T=) c.2291T= (p.Leu764=) c.2411T= (p.Leu804=) c.2665T= c.1907T= (p.Leu636=) c.2288T= (p.Leu763=) c.1877T= (p.Leu626=) c.2473T= (p.Trp825=) n.108+1880T= c.2333T= (p.Leu778=) c.2030T= (p.Leu677=) n.2421T= n.2745T= n.2388T=
19	g.11129534_11129535delinsTG	CA2322780261	LDLR	c.2669_2670delinsTG (p.Leu890=) c.480_481delinsTG (n.480_481delinsTG) c.2291_2292delinsTG (p.Leu764=) c.2411_2412delinsTG (p.Leu804=) c.2665_2666delinsTG c.1907_1908delinsTG (p.Leu636=) c.2288_2289delinsTG (p.Leu763=) c.1877_1878delinsTG (p.Leu626=) c.2473_2474delinsTG (p.Trp825=) n.108+1880_108+1881delinsTG c.2333_2334delinsTG (p.Leu778=) c.2030_2031delinsTG (p.Leu677=) n.2421_2422delinsTG n.2745_2746delinsTG n.2388_2389delinsTG
19	g.11129535G>A	CA404098430	LDLR	c.2670G>A (p.Leu890=) c.481G>A (n.481G>A) c.2292G>A (p.Leu764=) c.2412G>A (p.Leu804=) c.2666G>A c.1908G>A (p.Leu636=) c.2289G>A (p.Leu763=) c.1878G>A (p.Leu626=) c.2474G>A (p.Trp825Ter) n.108+1881G>A c.2334G>A (p.Leu778=) c.2031G>A (p.Leu677=) n.2422G>A n.2746G>A n.2389G>A	ClinVar dbSNP gnomAD v4
19	g.11129535G>C	CA404098437	LDLR	c.2670G>C (p.Leu890=) c.481G>C (n.481G>C) c.2292G>C (p.Leu764=) c.2412G>C (p.Leu804=) c.2666G>C c.1908G>C (p.Leu636=) c.2289G>C (p.Leu763=) c.1878G>C (p.Leu626=) c.2474G>C (p.Trp825Ser) n.108+1881G>C c.2334G>C (p.Leu778=) c.2031G>C (p.Leu677=) n.2422G>C n.2746G>C n.2389G>C
19	g.11129535G=	CA2322780263	LDLR	c.2670G= (p.Leu890=) c.481G= (n.481G=) c.2292G= (p.Leu764=) c.2412G= (p.Leu804=) c.2666G= c.1908G= (p.Leu636=) c.2289G= (p.Leu763=) c.1878G= (p.Leu626=) c.2474G= (p.Trp825=) n.108+1881G= c.2334G= (p.Leu778=) c.2031G= (p.Leu677=) n.2422G= n.2746G= n.2389G=
19	g.11129535G>T	CA404098440	LDLR	c.2670G>T (p.Leu890=) c.481G>T (n.481G>T) c.2292G>T (p.Leu764=) c.2412G>T (p.Leu804=) c.2666G>T c.1908G>T (p.Leu636=) c.2289G>T (p.Leu763=) c.1878G>T (p.Leu626=) c.2474G>T (p.Trp825Leu) n.108+1881G>T c.2334G>T (p.Leu778=) c.2031G>T (p.Leu677=) n.2422G>T n.2746G>T n.2389G>T	dbSNP
19	g.11129539dup	CA040715	LDLR	c.2674dup (p.Val892GlyfsTer11) c.485dup (n.485dup) c.2296dup (p.Val766GlyfsTer11) c.2416dup (p.Val806GlyfsTer11) c.2670dup c.1912dup (p.Val638GlyfsTer11) c.2293dup (p.Val765GlyfsTer11) c.1882dup (p.Val628GlyfsTer11) c.2478dup (p.Ser827ValfsTer?) n.108+1885dup c.2338dup (p.Val780GlyfsTer11) c.2035dup (p.Val679GlyfsTer11) n.2426dup n.2750dup n.2393dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129538_11129539dup	CA2695228332	LDLR	c.2673_2674dup (p.Val892GlyfsTer?) c.484_485dup (n.484_485dup) c.2295_2296dup (p.Val766GlyfsTer?) c.2415_2416dup (p.Val806GlyfsTer?) c.2669_2670dup c.1911_1912dup (p.Val638GlyfsTer?) c.2292_2293dup (p.Val765GlyfsTer?) c.1881_1882dup (p.Val628GlyfsTer?) c.2477_2478dup (p.Ser827GlyfsTer11) n.108+1884_108+1885dup c.2337_2338dup (p.Val780GlyfsTer?) c.2034_2035dup (p.Val679GlyfsTer?) n.2425_2426dup n.2749_2750dup n.2392_2393dup
19	g.11129539del	CA10585859	LDLR	c.2674del (p.Val892SerfsTer?) c.485del (n.485del) c.2296del (p.Val766SerfsTer?) c.2416del (p.Val806SerfsTer?) c.2670del c.1912del (p.Val638SerfsTer?) c.2293del (p.Val765SerfsTer?) c.1882del (p.Val628SerfsTer?) c.2478del (p.Ser827LeufsTer10) n.108+1885del c.2338del (p.Val780SerfsTer?) c.2035del (p.Val679SerfsTer?) n.2426del n.2750del n.2393del	ClinVar dbSNP
19	g.11129536G>A	CA10585858	LDLR	c.2671G>A (p.Gly891Arg) c.482G>A (n.482G>A) c.2293G>A (p.Gly765Arg) c.2413G>A (p.Gly805Arg) c.2667G>A c.1909G>A (p.Gly637Arg) c.2290G>A (p.Gly764Arg) c.1879G>A (p.Gly627Arg) c.2475G>A (p.Trp825Ter) n.108+1882G>A c.2335G>A (p.Gly779Arg) c.2032G>A (p.Gly678Arg) n.2423G>A n.2747G>A n.2390G>A	ClinVar dbSNP gnomAD v4 COSMIC
19	g.11129536G>C	CA404098452	LDLR	c.2671G>C (p.Gly891Arg) c.482G>C (n.482G>C) c.2293G>C (p.Gly765Arg) c.2413G>C (p.Gly805Arg) c.2667G>C c.1909G>C (p.Gly637Arg) c.2290G>C (p.Gly764Arg) c.1879G>C (p.Gly627Arg) c.2475G>C (p.Trp825Cys) n.108+1882G>C c.2335G>C (p.Gly779Arg) c.2032G>C (p.Gly678Arg) n.2423G>C n.2747G>C n.2390G>C	ClinVar dbSNP gnomAD v4
19	g.11129536G=	CA2322780264	LDLR	c.2671G= (p.Gly891=) c.482G= (n.482G=) c.2293G= (p.Gly765=) c.2413G= (p.Gly805=) c.2667G= c.1909G= (p.Gly637=) c.2290G= (p.Gly764=) c.1879G= (p.Gly627=) c.2475G= (p.Trp825=) n.108+1882G= c.2335G= (p.Gly779=) c.2032G= (p.Gly678=) n.2423G= n.2747G= n.2390G=
19	g.11129536G>T	CA404098449	LDLR	c.2671G>T (p.Gly891Trp) c.482G>T (n.482G>T) c.2293G>T (p.Gly765Trp) c.2413G>T (p.Gly805Trp) c.2667G>T c.1909G>T (p.Gly637Trp) c.2290G>T (p.Gly764Trp) c.1879G>T (p.Gly627Trp) c.2475G>T (p.Trp825Cys) n.108+1882G>T c.2335G>T (p.Gly779Trp) c.2032G>T (p.Gly678Trp) n.2423G>T n.2747G>T n.2390G>T
19	g.11129537G>A	CA404098458	LDLR	c.2672G>A (p.Gly891Glu) c.483G>A (n.483G>A) c.2294G>A (p.Gly765Glu) c.2414G>A (p.Gly805Glu) c.2668G>A c.1910G>A (p.Gly637Glu) c.2291G>A (p.Gly764Glu) c.1880G>A (p.Gly627Glu) c.2476G>A (p.Gly826Arg) n.108+1883G>A c.2336G>A (p.Gly779Glu) c.2033G>A (p.Gly678Glu) n.2424G>A n.2748G>A n.2391G>A	ClinVar dbSNP gnomAD v4
19	g.11129537G>C	CA404098463	LDLR	c.2672G>C (p.Gly891Ala) c.483G>C (n.483G>C) c.2294G>C (p.Gly765Ala) c.2414G>C (p.Gly805Ala) c.2668G>C c.1910G>C (p.Gly637Ala) c.2291G>C (p.Gly764Ala) c.1880G>C (p.Gly627Ala) c.2476G>C (p.Gly826Arg) n.108+1883G>C c.2336G>C (p.Gly779Ala) c.2033G>C (p.Gly678Ala) n.2424G>C n.2748G>C n.2391G>C
19	g.11129537G>T	CA404098461	LDLR	c.2672G>T (p.Gly891Val) c.483G>T (n.483G>T) c.2294G>T (p.Gly765Val) c.2414G>T (p.Gly805Val) c.2668G>T c.1910G>T (p.Gly637Val) c.2291G>T (p.Gly764Val) c.1880G>T (p.Gly627Val) c.2476G>T (p.Gly826Trp) n.108+1883G>T c.2336G>T (p.Gly779Val) c.2033G>T (p.Gly678Val) n.2424G>T n.2748G>T n.2391G>T
19	g.11129538G>A	CA404098469	LDLR	c.2673G>A (p.Gly891=) c.484G>A (n.484G>A) c.2295G>A (p.Gly765=) c.2415G>A (p.Gly805=) c.2669G>A c.1911G>A (p.Gly637=) c.2292G>A (p.Gly764=) c.1881G>A (p.Gly627=) c.2477G>A (p.Gly826Glu) n.108+1884G>A c.2337G>A (p.Gly779=) c.2034G>A (p.Gly678=) n.2425G>A n.2749G>A n.2392G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129538G>C	CA404098485	LDLR	c.2673G>C (p.Gly891=) c.484G>C (n.484G>C) c.2295G>C (p.Gly765=) c.2415G>C (p.Gly805=) c.2669G>C c.1911G>C (p.Gly637=) c.2292G>C (p.Gly764=) c.1881G>C (p.Gly627=) c.2477G>C (p.Gly826Ala) n.108+1884G>C c.2337G>C (p.Gly779=) c.2034G>C (p.Gly678=) n.2425G>C n.2749G>C n.2392G>C	dbSNP
19	g.11129538G=	CA2322780265	LDLR	c.2673G= (p.Gly891=) c.484G= (n.484G=) c.2295G= (p.Gly765=) c.2415G= (p.Gly805=) c.2669G= c.1911G= (p.Gly637=) c.2292G= (p.Gly764=) c.1881G= (p.Gly627=) c.2477G= (p.Gly826=) n.108+1884G= c.2337G= (p.Gly779=) c.2034G= (p.Gly678=) n.2425G= n.2749G= n.2392G=
19	g.11129538G>T	CA404098473	LDLR	c.2673G>T (p.Gly891=) c.484G>T (n.484G>T) c.2295G>T (p.Gly765=) c.2415G>T (p.Gly805=) c.2669G>T c.1911G>T (p.Gly637=) c.2292G>T (p.Gly764=) c.1881G>T (p.Gly627=) c.2477G>T (p.Gly826Val) n.108+1884G>T c.2337G>T (p.Gly779=) c.2034G>T (p.Gly678=) n.2425G>T n.2749G>T n.2392G>T
19	g.11129538_11129539insA	CA2499306837	LDLR	c.2673_2674insA (p.Val892SerfsTer11) c.484_485insA (n.484_485insA) c.2295_2296insA (p.Val766SerfsTer11) c.2415_2416insA (p.Val806SerfsTer11) c.2669_2670insA c.1911_1912insA (p.Val638SerfsTer11) c.2292_2293insA (p.Val765SerfsTer11) c.1881_1882insA (p.Val628SerfsTer11) c.2477_2478insA (p.Ser827ValfsTer?) n.108+1884_108+1885insA c.2337_2338insA (p.Val780SerfsTer11) c.2034_2035insA (p.Val679SerfsTer11) n.2425_2426insA n.2749_2750insA n.2392_2393insA
19	g.11129539G>A	CA404098496	LDLR	c.2674G>A (p.Val892Ile) c.485G>A (n.485G>A) c.2296G>A (p.Val766Ile) c.2416G>A (p.Val806Ile) c.2670G>A c.1912G>A (p.Val638Ile) c.2293G>A (p.Val765Ile) c.1882G>A (p.Val628Ile) c.2478G>A (p.Gly826=) n.108+1885G>A c.2338G>A (p.Val780Ile) c.2035G>A (p.Val679Ile) n.2426G>A n.2750G>A n.2393G>A
19	g.11129539G>C	CA404098504	LDLR	c.2674G>C (p.Val892Leu) c.485G>C (n.485G>C) c.2296G>C (p.Val766Leu) c.2416G>C (p.Val806Leu) c.2670G>C c.1912G>C (p.Val638Leu) c.2293G>C (p.Val765Leu) c.1882G>C (p.Val628Leu) c.2478G>C (p.Gly826=) n.108+1885G>C c.2338G>C (p.Val780Leu) c.2035G>C (p.Val679Leu) n.2426G>C n.2750G>C n.2393G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129539G=	CA2322780267	LDLR	c.2674G= (p.Val892=) c.485G= (n.485G=) c.2296G= (p.Val766=) c.2416G= (p.Val806=) c.2670G= c.1912G= (p.Val638=) c.2293G= (p.Val765=) c.1882G= (p.Val628=) c.2478G= (p.Gly826=) n.108+1885G= c.2338G= (p.Val780=) c.2035G= (p.Val679=) n.2426G= n.2750G= n.2393G=
19	g.11129539G>T	CA040732	LDLR	c.2674G>T (p.Val892Phe) c.485G>T (n.485G>T) c.2296G>T (p.Val766Phe) c.2416G>T (p.Val806Phe) c.2670G>T c.1912G>T (p.Val638Phe) c.2293G>T (p.Val765Phe) c.1882G>T (p.Val628Phe) c.2478G>T (p.Gly826=) n.108+1885G>T c.2338G>T (p.Val780Phe) c.2035G>T (p.Val679Phe) n.2426G>T n.2750G>T n.2393G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129539_11129541delinsAGAAG	CA2573050627	LDLR	c.2674_2676delinsAGAAG (p.Val892ArgfsTer?) c.485_487delinsAGAAG (n.485_487delinsAGAAG) c.2296_2298delinsAGAAG (p.Val766ArgfsTer?) c.2416_2418delinsAGAAG (p.Val806ArgfsTer?) c.2670_2672delinsAGAAG c.1912_1914delinsAGAAG (p.Val638ArgfsTer?) c.2293_2295delinsAGAAG (p.Val765ArgfsTer?) c.1882_1884delinsAGAAG (p.Val628ArgfsTer?) c.2478_2480delinsAGAAG (p.Ser827GlufsTer11) n.108+1885_108+1887delinsAGAAG c.2338_2340delinsAGAAG (p.Val780ArgfsTer?) c.2035_2037delinsAGAAG (p.Val679ArgfsTer?) n.2426_2428delinsAGAAG n.2750_2752delinsAGAAG n.2393_2395delinsAGAAG
19	g.11129539_11129546delinsGTCTTCCT	CA2322780266	LDLR	c.2674_2681delinsGTCTTCCT (p.Val892=) c.485_492delinsGTCTTCCT (n.485_492delinsGTCTTCCT) c.2296_2303delinsGTCTTCCT (p.Val766=) c.2416_2423delinsGTCTTCCT (p.Val806=) c.2670_2677delinsGTCTTCCT c.1912_1919delinsGTCTTCCT (p.Val638=) c.2293_2300delinsGTCTTCCT (p.Val765=) c.1882_1889delinsGTCTTCCT (p.Val628=) c.2478_2485delinsGTCTTCCT (p.Gly826=) n.108+1885_108+1892delinsGTCTTCCT c.2338_2345delinsGTCTTCCT (p.Val780=) c.2035_2042delinsGTCTTCCT (p.Val679=) n.2426_2433delinsGTCTTCCT n.2750_2757delinsGTCTTCCT n.2393_2400delinsGTCTTCCT
19	g.11129540T>A	CA10585860	LDLR	c.2675T>A (p.Val892Asp) c.486T>A (n.486T>A) c.2297T>A (p.Val766Asp) c.2417T>A (p.Val806Asp) c.2671T>A c.1913T>A (p.Val638Asp) c.2294T>A (p.Val765Asp) c.1883T>A (p.Val628Asp) c.2479T>A (p.Ser827Thr) n.108+1886T>A c.2339T>A (p.Val780Asp) c.2036T>A (p.Val679Asp) n.2427T>A n.2751T>A n.2394T>A	ClinVar dbSNP
19	g.11129540T>C	CA404098523	LDLR	c.2675T>C (p.Val892Ala) c.486T>C (n.486T>C) c.2297T>C (p.Val766Ala) c.2417T>C (p.Val806Ala) c.2671T>C c.1913T>C (p.Val638Ala) c.2294T>C (p.Val765Ala) c.1883T>C (p.Val628Ala) c.2479T>C (p.Ser827Pro) n.108+1886T>C c.2339T>C (p.Val780Ala) c.2036T>C (p.Val679Ala) n.2427T>C n.2751T>C n.2394T>C	dbSNP gnomAD v4
19	g.11129540T>G	CA404098536	LDLR	c.2675T>G (p.Val892Gly) c.486T>G (n.486T>G) c.2297T>G (p.Val766Gly) c.2417T>G (p.Val806Gly) c.2671T>G c.1913T>G (p.Val638Gly) c.2294T>G (p.Val765Gly) c.1883T>G (p.Val628Gly) c.2479T>G (p.Ser827Ala) n.108+1886T>G c.2339T>G (p.Val780Gly) c.2036T>G (p.Val679Gly) n.2427T>G n.2751T>G n.2394T>G
19	g.11129540T=	CA2322780268	LDLR	c.2675T= (p.Val892=) c.486T= (n.486T=) c.2297T= (p.Val766=) c.2417T= (p.Val806=) c.2671T= c.1913T= (p.Val638=) c.2294T= (p.Val765=) c.1883T= (p.Val628=) c.2479T= (p.Ser827=) n.108+1886T= c.2339T= (p.Val780=) c.2036T= (p.Val679=) n.2427T= n.2751T= n.2394T=
19	g.11129540dup	CA2573320459	LDLR	c.2675dup (p.Phe893LeufsTer10) c.486dup (n.486dup) c.2297dup (p.Phe767LeufsTer10) c.2417dup (p.Phe807LeufsTer10) c.2671dup c.1913dup (p.Phe639LeufsTer10) c.2294dup (p.Phe766LeufsTer10) c.1883dup (p.Phe629LeufsTer10) c.2479dup (p.Ser827PhefsTer?) n.108+1886dup c.2339dup (p.Phe781LeufsTer10) c.2036dup (p.Phe680LeufsTer10) n.2427dup n.2751dup n.2394dup
19	g.11129540_11129544delinsTCTTC	CA2322780269	LDLR	c.2675_2679delinsTCTTC (p.Val892=) c.486_490delinsTCTTC (n.486_490delinsTCTTC) c.2297_2301delinsTCTTC (p.Val766=) c.2417_2421delinsTCTTC (p.Val806=) c.2671_2675delinsTCTTC c.1913_1917delinsTCTTC (p.Val638=) c.2294_2298delinsTCTTC (p.Val765=) c.1883_1887delinsTCTTC (p.Val628=) c.2479_2483delinsTCTTC (p.Ser827=) n.108+1886_108+1890delinsTCTTC c.2339_2343delinsTCTTC (p.Val780=) c.2036_2040delinsTCTTC (p.Val679=) n.2427_2431delinsTCTTC n.2751_2755delinsTCTTC n.2394_2398delinsTCTTC
19	g.11129543_11129549del	CA10585863	LDLR	c.2678_2684del (p.Phe893TyrfsTer?) c.489_495del (n.489_495del) c.2300_2306del (p.Phe767TyrfsTer?) c.2420_2426del (p.Phe807TyrfsTer?) c.2674_2680del c.1916_1922del (p.Phe639TyrfsTer?) c.2297_2303del (p.Phe766TyrfsTer?) c.1886_1892del (p.Phe629TyrfsTer?) c.2482_2488del (p.Ser828MetfsTer7) n.108+1889_108+1895del c.2342_2348del (p.Phe781TyrfsTer?) c.2039_2045del (p.Phe680TyrfsTer?) n.2430_2436del n.2754_2760del n.2397_2403del	ClinVar dbSNP
19	g.11129540_11129541insG	CA10585861	LDLR	c.2675_2676insG (p.Phe893LeufsTer10) c.486_487insG (n.486_487insG) c.2297_2298insG (p.Phe767LeufsTer10) c.2417_2418insG (p.Phe807LeufsTer10) c.2671_2672insG c.1913_1914insG (p.Phe639LeufsTer10) c.2294_2295insG (p.Phe766LeufsTer10) c.1883_1884insG (p.Phe629LeufsTer10) c.2479_2480insG (p.Ser827CysfsTer?) n.108+1886_108+1887insG c.2339_2340insG (p.Phe781LeufsTer10) c.2036_2037insG (p.Phe680LeufsTer10) n.2427_2428insG n.2751_2752insG n.2394_2395insG	ClinVar dbSNP
19	g.11129540_11129541insGG	CA10585862	LDLR	c.2675_2676insGG (p.Phe893AlafsTer?) c.486_487insGG (n.486_487insGG) c.2297_2298insGG (p.Phe767AlafsTer?) c.2417_2418insGG (p.Phe807AlafsTer?) c.2671_2672insGG c.1913_1914insGG (p.Phe639AlafsTer?) c.2294_2295insGG (p.Phe766AlafsTer?) c.1883_1884insGG (p.Phe629AlafsTer?) c.2479_2480insGG (p.Ser827TrpfsTer11) n.108+1886_108+1887insGG c.2339_2340insGG (p.Phe781AlafsTer?) c.2036_2037insGG (p.Phe680AlafsTer?) n.2427_2428insGG n.2751_2752insGG n.2394_2395insGG	ClinVar dbSNP
19	g.11129541C>A	CA040743	LDLR	c.2676C>A (p.Val892=) c.487C>A (n.487C>A) c.2298C>A (p.Val766=) c.2418C>A (p.Val806=) c.2672C>A c.1914C>A (p.Val638=) c.2295C>A (p.Val765=) c.1884C>A (p.Val628=) c.2480C>A (p.Ser827Tyr) n.108+1887C>A c.2340C>A (p.Val780=) c.2037C>A (p.Val679=) n.2428C>A n.2752C>A n.2395C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129541C=	CA2322780270	LDLR	c.2676C= (p.Val892=) c.487C= (n.487C=) c.2298C= (p.Val766=) c.2418C= (p.Val806=) c.2672C= c.1914C= (p.Val638=) c.2295C= (p.Val765=) c.1884C= (p.Val628=) c.2480C= (p.Ser827=) n.108+1887C= c.2340C= (p.Val780=) c.2037C= (p.Val679=) n.2428C= n.2752C= n.2395C=
19	g.11129541C>G	CA404098554	LDLR	c.2676C>G (p.Val892=) c.487C>G (n.487C>G) c.2298C>G (p.Val766=) c.2418C>G (p.Val806=) c.2672C>G c.1914C>G (p.Val638=) c.2295C>G (p.Val765=) c.1884C>G (p.Val628=) c.2480C>G (p.Ser827Cys) n.108+1887C>G c.2340C>G (p.Val780=) c.2037C>G (p.Val679=) n.2428C>G n.2752C>G n.2395C>G
19	g.11129541C>T	CA404098558	LDLR	c.2676C>T (p.Val892=) c.487C>T (n.487C>T) c.2298C>T (p.Val766=) c.2418C>T (p.Val806=) c.2672C>T c.1914C>T (p.Val638=) c.2295C>T (p.Val765=) c.1884C>T (p.Val628=) c.2480C>T (p.Ser827Phe) n.108+1887C>T c.2340C>T (p.Val780=) c.2037C>T (p.Val679=) n.2428C>T n.2752C>T n.2395C>T
19	g.11129545_11129548del	CA645509302	LDLR	c.2680_2683del (p.Leu894TyrfsTer?) c.491_494del (n.491_494del) c.2302_2305del (p.Leu768TyrfsTer?) c.2422_2425del (p.Leu808TyrfsTer?) c.2676_2679del c.1918_1921del (p.Leu640TyrfsTer?) c.2299_2302del (p.Leu767TyrfsTer?) c.1888_1891del (p.Leu630TyrfsTer?) c.2484_2487del (p.Phe829MetfsTer7) n.108+1891_108+1894del c.2344_2347del (p.Leu782TyrfsTer?) c.2041_2044del (p.Leu681TyrfsTer?) n.2432_2435del n.2756_2759del n.2399_2402del	ClinVar dbSNP
19	g.11129542T>A	CA404098562	LDLR	c.2677T>A (p.Phe893Ile) c.488T>A (n.488T>A) c.2299T>A (p.Phe767Ile) c.2419T>A (p.Phe807Ile) c.2673T>A c.1915T>A (p.Phe639Ile) c.2296T>A (p.Phe766Ile) c.1885T>A (p.Phe629Ile) c.2481T>A (p.Ser827=) n.108+1888T>A c.2341T>A (p.Phe781Ile) c.2038T>A (p.Phe680Ile) n.2429T>A n.2753T>A n.2396T>A
19	g.11129542T>C	CA404098563	LDLR	c.2677T>C (p.Phe893Leu) c.488T>C (n.488T>C) c.2299T>C (p.Phe767Leu) c.2419T>C (p.Phe807Leu) c.2673T>C c.1915T>C (p.Phe639Leu) c.2296T>C (p.Phe766Leu) c.1885T>C (p.Phe629Leu) c.2481T>C (p.Ser827=) n.108+1888T>C c.2341T>C (p.Phe781Leu) c.2038T>C (p.Phe680Leu) n.2429T>C n.2753T>C n.2396T>C
19	g.11129542T>G	CA404098564	LDLR	c.2677T>G (p.Phe893Val) c.488T>G (n.488T>G) c.2299T>G (p.Phe767Val) c.2419T>G (p.Phe807Val) c.2673T>G c.1915T>G (p.Phe639Val) c.2296T>G (p.Phe766Val) c.1885T>G (p.Phe629Val) c.2481T>G (p.Ser827=) n.108+1888T>G c.2341T>G (p.Phe781Val) c.2038T>G (p.Phe680Val) n.2429T>G n.2753T>G n.2396T>G
19	g.11129543T>A	CA404098566	LDLR	c.2678T>A (p.Phe893Tyr) c.489T>A (n.489T>A) c.2300T>A (p.Phe767Tyr) c.2420T>A (p.Phe807Tyr) c.2674T>A c.1916T>A (p.Phe639Tyr) c.2297T>A (p.Phe766Tyr) c.1886T>A (p.Phe629Tyr) c.2482T>A (p.Ser828Thr) n.108+1889T>A c.2342T>A (p.Phe781Tyr) c.2039T>A (p.Phe680Tyr) n.2430T>A n.2754T>A n.2397T>A
19	g.11129543T>C	CA404098573	LDLR	c.2678T>C (p.Phe893Ser) c.489T>C (n.489T>C) c.2300T>C (p.Phe767Ser) c.2420T>C (p.Phe807Ser) c.2674T>C c.1916T>C (p.Phe639Ser) c.2297T>C (p.Phe766Ser) c.1886T>C (p.Phe629Ser) c.2482T>C (p.Ser828Pro) n.108+1889T>C c.2342T>C (p.Phe781Ser) c.2039T>C (p.Phe680Ser) n.2430T>C n.2754T>C n.2397T>C
19	g.11129543T>G	CA404098567	LDLR	c.2678T>G (p.Phe893Cys) c.489T>G (n.489T>G) c.2300T>G (p.Phe767Cys) c.2420T>G (p.Phe807Cys) c.2674T>G c.1916T>G (p.Phe639Cys) c.2297T>G (p.Phe766Cys) c.1886T>G (p.Phe629Cys) c.2482T>G (p.Ser828Ala) n.108+1889T>G c.2342T>G (p.Phe781Cys) c.2039T>G (p.Phe680Cys) n.2430T>G n.2754T>G n.2397T>G
19	g.11129544C>A	CA404098578	LDLR	c.2679C>A (p.Phe893Leu) c.490C>A (n.490C>A) c.2301C>A (p.Phe767Leu) c.2421C>A (p.Phe807Leu) c.2675C>A c.1917C>A (p.Phe639Leu) c.2298C>A (p.Phe766Leu) c.1887C>A (p.Phe629Leu) c.2483C>A (p.Ser828Tyr) n.108+1890C>A c.2343C>A (p.Phe781Leu) c.2040C>A (p.Phe680Leu) n.2431C>A n.2755C>A n.2398C>A
19	g.11129544C=	CA2322780271	LDLR	c.2679C= (p.Phe893=) c.490C= (n.490C=) c.2301C= (p.Phe767=) c.2421C= (p.Phe807=) c.2675C= c.1917C= (p.Phe639=) c.2298C= (p.Phe766=) c.1887C= (p.Phe629=) c.2483C= (p.Ser828=) n.108+1890C= c.2343C= (p.Phe781=) c.2040C= (p.Phe680=) n.2431C= n.2755C= n.2398C=
19	g.11129544C>G	CA404098584	LDLR	c.2679C>G (p.Phe893Leu) c.490C>G (n.490C>G) c.2301C>G (p.Phe767Leu) c.2421C>G (p.Phe807Leu) c.2675C>G c.1917C>G (p.Phe639Leu) c.2298C>G (p.Phe766Leu) c.1887C>G (p.Phe629Leu) c.2483C>G (p.Ser828Cys) n.108+1890C>G c.2343C>G (p.Phe781Leu) c.2040C>G (p.Phe680Leu) n.2431C>G n.2755C>G n.2398C>G
19	g.11129544C>T	CA305309073	LDLR	c.2679C>T (p.Phe893=) c.490C>T (n.490C>T) c.2301C>T (p.Phe767=) c.2421C>T (p.Phe807=) c.2675C>T c.1917C>T (p.Phe639=) c.2298C>T (p.Phe766=) c.1887C>T (p.Phe629=) c.2483C>T (p.Ser828Phe) n.108+1890C>T c.2343C>T (p.Phe781=) c.2040C>T (p.Phe680=) n.2431C>T n.2755C>T n.2398C>T	dbSNP gnomAD v4 COSMIC
19	g.11129545C>A	CA404098596	LDLR	c.2680C>A (p.Leu894Ile) c.491C>A (n.491C>A) c.2302C>A (p.Leu768Ile) c.2422C>A (p.Leu808Ile) c.2676C>A c.1918C>A (p.Leu640Ile) c.2299C>A (p.Leu767Ile) c.1888C>A (p.Leu630Ile) c.2484C>A (p.Ser828=) n.108+1891C>A c.2344C>A (p.Leu782Ile) c.2041C>A (p.Leu681Ile) n.2432C>A n.2756C>A n.2399C>A
19	g.11129545C=	CA2322780272	LDLR	c.2680C= (p.Leu894=) c.491C= (n.491C=) c.2302C= (p.Leu768=) c.2422C= (p.Leu808=) c.2676C= c.1918C= (p.Leu640=) c.2299C= (p.Leu767=) c.1888C= (p.Leu630=) c.2484C= (p.Ser828=) n.108+1891C= c.2344C= (p.Leu782=) c.2041C= (p.Leu681=) n.2432C= n.2756C= n.2399C=
19	g.11129545C>G	CA404098598	LDLR	c.2680C>G (p.Leu894Val) c.491C>G (n.491C>G) c.2302C>G (p.Leu768Val) c.2422C>G (p.Leu808Val) c.2676C>G c.1918C>G (p.Leu640Val) c.2299C>G (p.Leu767Val) c.1888C>G (p.Leu630Val) c.2484C>G (p.Ser828=) n.108+1891C>G c.2344C>G (p.Leu782Val) c.2041C>G (p.Leu681Val) n.2432C>G n.2756C>G n.2399C>G	ClinVar dbSNP
19	g.11129545C>T	CA404098599	LDLR	c.2680C>T (p.Leu894Phe) c.491C>T (n.491C>T) c.2302C>T (p.Leu768Phe) c.2422C>T (p.Leu808Phe) c.2676C>T c.1918C>T (p.Leu640Phe) c.2299C>T (p.Leu767Phe) c.1888C>T (p.Leu630Phe) c.2484C>T (p.Ser828=) n.108+1891C>T c.2344C>T (p.Leu782Phe) c.2041C>T (p.Leu681Phe) n.2432C>T n.2756C>T n.2399C>T
19	g.11129546T>A	CA404098603	LDLR	c.2681T>A (p.Leu894His) c.492T>A (n.492T>A) c.2303T>A (p.Leu768His) c.2423T>A (p.Leu808His) c.2677T>A c.1919T>A (p.Leu640His) c.2300T>A (p.Leu767His) c.1889T>A (p.Leu630His) c.2485T>A (p.Phe829Ile) n.108+1892T>A c.2345T>A (p.Leu782His) c.2042T>A (p.Leu681His) n.2433T>A n.2757T>A n.2400T>A	COSMIC
19	g.11129546T>C	CA404098615	LDLR	c.2681T>C (p.Leu894Pro) c.492T>C (n.492T>C) c.2303T>C (p.Leu768Pro) c.2423T>C (p.Leu808Pro) c.2677T>C c.1919T>C (p.Leu640Pro) c.2300T>C (p.Leu767Pro) c.1889T>C (p.Leu630Pro) c.2485T>C (p.Phe829Leu) n.108+1892T>C c.2345T>C (p.Leu782Pro) c.2042T>C (p.Leu681Pro) n.2433T>C n.2757T>C n.2400T>C	gnomAD v4
19	g.11129546T>G	CA404098617	LDLR	c.2681T>G (p.Leu894Arg) c.492T>G (n.492T>G) c.2303T>G (p.Leu768Arg) c.2423T>G (p.Leu808Arg) c.2677T>G c.1919T>G (p.Leu640Arg) c.2300T>G (p.Leu767Arg) c.1889T>G (p.Leu630Arg) c.2485T>G (p.Phe829Val) n.108+1892T>G c.2345T>G (p.Leu782Arg) c.2042T>G (p.Leu681Arg) n.2433T>G n.2757T>G n.2400T>G	gnomAD v4
19	g.11129547T>A	CA404098631	LDLR	c.2682T>A (p.Leu894=) c.493T>A (n.493T>A) c.2304T>A (p.Leu768=) c.2424T>A (p.Leu808=) c.2678T>A c.1920T>A (p.Leu640=) c.2301T>A (p.Leu767=) c.1890T>A (p.Leu630=) c.2486T>A (p.Phe829Tyr) n.108+1893T>A c.2346T>A (p.Leu782=) c.2043T>A (p.Leu681=) n.2434T>A n.2758T>A n.2401T>A
19	g.11129547T>C	CA404098629	LDLR	c.2682T>C (p.Leu894=) c.493T>C (n.493T>C) c.2304T>C (p.Leu768=) c.2424T>C (p.Leu808=) c.2678T>C c.1920T>C (p.Leu640=) c.2301T>C (p.Leu767=) c.1890T>C (p.Leu630=) c.2486T>C (p.Phe829Ser) n.108+1893T>C c.2346T>C (p.Leu782=) c.2043T>C (p.Leu681=) n.2434T>C n.2758T>C n.2401T>C	dbSNP
19	g.11129547T>G	CA404098622	LDLR	c.2682T>G (p.Leu894=) c.493T>G (n.493T>G) c.2304T>G (p.Leu768=) c.2424T>G (p.Leu808=) c.2678T>G c.1920T>G (p.Leu640=) c.2301T>G (p.Leu767=) c.1890T>G (p.Leu630=) c.2486T>G (p.Phe829Cys) n.108+1893T>G c.2346T>G (p.Leu782=) c.2043T>G (p.Leu681=) n.2434T>G n.2758T>G n.2401T>G
19	g.11129548C>A	CA404098637	LDLR	c.2683C>A (p.Leu895Ile) c.494C>A (n.494C>A) c.2305C>A (p.Leu769Ile) c.2425C>A (p.Leu809Ile) c.2679C>A c.1921C>A (p.Leu641Ile) c.2302C>A (p.Leu768Ile) c.1891C>A (p.Leu631Ile) c.2487C>A (p.Phe829Leu) n.108+1894C>A c.2347C>A (p.Leu783Ile) c.2044C>A (p.Leu682Ile) n.2435C>A n.2759C>A n.2402C>A	gnomAD v4
19	g.11129548C>G	CA404098633	LDLR	c.2683C>G (p.Leu895Val) c.494C>G (n.494C>G) c.2305C>G (p.Leu769Val) c.2425C>G (p.Leu809Val) c.2679C>G c.1921C>G (p.Leu641Val) c.2302C>G (p.Leu768Val) c.1891C>G (p.Leu631Val) c.2487C>G (p.Phe829Leu) n.108+1894C>G c.2347C>G (p.Leu783Val) c.2044C>G (p.Leu682Val) n.2435C>G n.2759C>G n.2402C>G
19	g.11129548C>T	CA505743516	LDLR	c.2683C>T (p.Leu895=) c.494C>T (n.494C>T) c.2305C>T (p.Leu769=) c.2425C>T (p.Leu809=) c.2679C>T c.1921C>T (p.Leu641=) c.2302C>T (p.Leu768=) c.1891C>T (p.Leu631=) c.2487C>T (p.Phe829=) n.108+1894C>T c.2347C>T (p.Leu783=) c.2044C>T (p.Leu682=) n.2435C>T n.2759C>T n.2402C>T	ClinVar dbSNP
19	g.11129549T>A	CA404098640	LDLR	c.2684T>A (p.Leu895Gln) c.495T>A (n.495T>A) c.2306T>A (p.Leu769Gln) c.2426T>A (p.Leu809Gln) c.2680T>A c.1922T>A (p.Leu641Gln) c.2303T>A (p.Leu768Gln) c.1892T>A (p.Leu631Gln) c.2488T>A (p.Tyr830Asn) n.108+1895T>A c.2348T>A (p.Leu783Gln) c.2045T>A (p.Leu682Gln) n.2436T>A n.2760T>A n.2403T>A
19	g.11129549T>C	CA404098642	LDLR	c.2684T>C (p.Leu895Pro) c.495T>C (n.495T>C) c.2306T>C (p.Leu769Pro) c.2426T>C (p.Leu809Pro) c.2680T>C c.1922T>C (p.Leu641Pro) c.2303T>C (p.Leu768Pro) c.1892T>C (p.Leu631Pro) c.2488T>C (p.Tyr830His) n.108+1895T>C c.2348T>C (p.Leu783Pro) c.2045T>C (p.Leu682Pro) n.2436T>C n.2760T>C n.2403T>C	dbSNP
19	g.11129549T>G	CA404098644	LDLR	c.2684T>G (p.Leu895Arg) c.495T>G (n.495T>G) c.2306T>G (p.Leu769Arg) c.2426T>G (p.Leu809Arg) c.2680T>G c.1922T>G (p.Leu641Arg) c.2303T>G (p.Leu768Arg) c.1892T>G (p.Leu631Arg) c.2488T>G (p.Tyr830Asp) n.108+1895T>G c.2348T>G (p.Leu783Arg) c.2045T>G (p.Leu682Arg) n.2436T>G n.2760T>G n.2403T>G
19	g.11129549T=	CA2322780273	LDLR	c.2684T= (p.Leu895=) c.495T= (n.495T=) c.2306T= (p.Leu769=) c.2426T= (p.Leu809=) c.2680T= c.1922T= (p.Leu641=) c.2303T= (p.Leu768=) c.1892T= (p.Leu631=) c.2488T= (p.Tyr830=) n.108+1895T= c.2348T= (p.Leu783=) c.2045T= (p.Leu682=) n.2436T= n.2760T= n.2403T=
19	g.11129550A=	CA2322780274	LDLR	c.2685A= (p.Leu895=) c.496A= (n.496A=) c.2307A= (p.Leu769=) c.2427A= (p.Leu809=) c.2681A= c.1923A= (p.Leu641=) c.2304A= (p.Leu768=) c.1893A= (p.Leu631=) c.2489A= (p.Tyr830=) n.108+1896A= c.2349A= (p.Leu783=) c.2046A= (p.Leu682=) n.2437A= n.2761A= n.2404A=
19	g.11129550A>C	CA404098647	LDLR	c.2685A>C (p.Leu895=) c.496A>C (n.496A>C) c.2307A>C (p.Leu769=) c.2427A>C (p.Leu809=) c.2681A>C c.1923A>C (p.Leu641=) c.2304A>C (p.Leu768=) c.1893A>C (p.Leu631=) c.2489A>C (p.Tyr830Ser) n.108+1896A>C c.2349A>C (p.Leu783=) c.2046A>C (p.Leu682=) n.2437A>C n.2761A>C n.2404A>C
19	g.11129550A>G	CA040756	LDLR	c.2685A>G (p.Leu895=) c.496A>G (n.496A>G) c.2307A>G (p.Leu769=) c.2427A>G (p.Leu809=) c.2681A>G c.1923A>G (p.Leu641=) c.2304A>G (p.Leu768=) c.1893A>G (p.Leu631=) c.2489A>G (p.Tyr830Cys) n.108+1896A>G c.2349A>G (p.Leu783=) c.2046A>G (p.Leu682=) n.2437A>G n.2761A>G n.2404A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129550A>T	CA404098660	LDLR	c.2685A>T (p.Leu895=) c.496A>T (n.496A>T) c.2307A>T (p.Leu769=) c.2427A>T (p.Leu809=) c.2681A>T c.1923A>T (p.Leu641=) c.2304A>T (p.Leu768=) c.1893A>T (p.Leu631=) c.2489A>T (p.Tyr830Phe) n.108+1896A>T c.2349A>T (p.Leu783=) c.2046A>T (p.Leu682=) n.2437A>T n.2761A>T n.2404A>T
19	g.11129551T>A	CA404098663	LDLR	c.2686T>A (p.Trp896Arg) c.497T>A (n.497T>A) c.2308T>A (p.Trp770Arg) c.2428T>A (p.Trp810Arg) c.2682T>A c.1924T>A (p.Trp642Arg) c.2305T>A (p.Trp769Arg) c.1894T>A (p.Trp632Arg) c.2490T>A (p.Tyr830Ter) n.108+1897T>A c.2350T>A (p.Trp784Arg) c.2047T>A (p.Trp683Arg) n.2438T>A n.2762T>A n.2405T>A
19	g.11129551T>C	CA404098664	LDLR	c.2686T>C (p.Trp896Arg) c.497T>C (n.497T>C) c.2308T>C (p.Trp770Arg) c.2428T>C (p.Trp810Arg) c.2682T>C c.1924T>C (p.Trp642Arg) c.2305T>C (p.Trp769Arg) c.1894T>C (p.Trp632Arg) c.2490T>C (p.Tyr830=) n.108+1897T>C c.2350T>C (p.Trp784Arg) c.2047T>C (p.Trp683Arg) n.2438T>C n.2762T>C n.2405T>C
19	g.11129551T>G	CA404098665	LDLR	c.2686T>G (p.Trp896Gly) c.497T>G (n.497T>G) c.2308T>G (p.Trp770Gly) c.2428T>G (p.Trp810Gly) c.2682T>G c.1924T>G (p.Trp642Gly) c.2305T>G (p.Trp769Gly) c.1894T>G (p.Trp632Gly) c.2490T>G (p.Tyr830Ter) n.108+1897T>G c.2350T>G (p.Trp784Gly) c.2047T>G (p.Trp683Gly) n.2438T>G n.2762T>G n.2405T>G
19	g.11129552G>A	CA404098667	LDLR	c.2687G>A (p.Trp896Ter) c.498G>A (n.498G>A) c.2309G>A (p.Trp770Ter) c.2429G>A (p.Trp810Ter) c.2683G>A c.1925G>A (p.Trp642Ter) c.2306G>A (p.Trp769Ter) c.1895G>A (p.Trp632Ter) c.2491G>A (p.Gly831Arg) n.108+1898G>A c.2351G>A (p.Trp784Ter) c.2048G>A (p.Trp683Ter) n.2439G>A n.2763G>A n.2406G>A
19	g.11129552G>C	CA404098671	LDLR	c.2687G>C (p.Trp896Ser) c.498G>C (n.498G>C) c.2309G>C (p.Trp770Ser) c.2429G>C (p.Trp810Ser) c.2683G>C c.1925G>C (p.Trp642Ser) c.2306G>C (p.Trp769Ser) c.1895G>C (p.Trp632Ser) c.2491G>C (p.Gly831Arg) n.108+1898G>C c.2351G>C (p.Trp784Ser) c.2048G>C (p.Trp683Ser) n.2439G>C n.2763G>C n.2406G>C
19	g.11129552G>T	CA404098673	LDLR	c.2687G>T (p.Trp896Leu) c.498G>T (n.498G>T) c.2309G>T (p.Trp770Leu) c.2429G>T (p.Trp810Leu) c.2683G>T c.1925G>T (p.Trp642Leu) c.2306G>T (p.Trp769Leu) c.1895G>T (p.Trp632Leu) c.2491G>T (p.Gly831Ter) n.108+1898G>T c.2351G>T (p.Trp784Leu) c.2048G>T (p.Trp683Leu) n.2439G>T n.2763G>T n.2406G>T
19	g.11129552_11129553insCAACTCCATTTCCCGGGTTCAAGT	CA2582476512	LDLR	c.2687_2688insCAACTCCATTTCCCGGGTTCAAGT (p.Trp896delinsCysAsnSerIleSerArgValGlnVal) c.498_499insCAACTCCATTTCCCGGGTTCAAGT (n.498_499insCAACTCCATTTCCCGGGTTCAAGT) c.2309_2310insCAACTCCATTTCCCGGGTTCAAGT (p.Trp770delinsCysAsnSerIleSerArgValGlnVal) c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT (p.Trp810delinsCysAsnSerIleSerArgValGlnVal) c.2683_2684insCAACTCCATTTCCCGGGTTCAAGT c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT (p.Trp642delinsCysAsnSerIleSerArgValGlnVal) c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT (p.Trp769delinsCysAsnSerIleSerArgValGlnVal) c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT (p.Trp632delinsCysAsnSerIleSerArgValGlnVal) c.2491_2492insCAACTCCATTTCCCGGGTTCAAGT (p.Gly831AlafsTer9) n.108+1898_108+1899insCAACTCCATTTCCCGGGTTCAAGT c.2351_2352insCAACTCCATTTCCCGGGTTCAAGT (p.Trp784delinsCysAsnSerIleSerArgValGlnVal) c.2048_2049insCAACTCCATTTCCCGGGTTCAAGT (p.Trp683delinsCysAsnSerIleSerArgValGlnVal) n.2439_2440insCAACTCCATTTCCCGGGTTCAAGT n.2763_2764insCAACTCCATTTCCCGGGTTCAAGT n.2406_2407insCAACTCCATTTCCCGGGTTCAAGT	gnomAD v4
19	g.11129553G>A	CA10585864	LDLR	c.2688G>A (p.Trp896Ter) c.499G>A (n.499G>A) c.2310G>A (p.Trp770Ter) c.2430G>A (p.Trp810Ter) c.2684G>A c.1926G>A (p.Trp642Ter) c.2307G>A (p.Trp769Ter) c.1896G>A (p.Trp632Ter) c.2492G>A (p.Gly831Glu) n.108+1899G>A c.2352G>A (p.Trp784Ter) c.2049G>A (p.Trp683Ter) n.2440G>A n.2764G>A n.2407G>A	ClinVar dbSNP
19	g.11129553G>C	CA404098675	LDLR	c.2688G>C (p.Trp896Cys) c.499G>C (n.499G>C) c.2310G>C (p.Trp770Cys) c.2430G>C (p.Trp810Cys) c.2684G>C c.1926G>C (p.Trp642Cys) c.2307G>C (p.Trp769Cys) c.1896G>C (p.Trp632Cys) c.2492G>C (p.Gly831Ala) n.108+1899G>C c.2352G>C (p.Trp784Cys) c.2049G>C (p.Trp683Cys) n.2440G>C n.2764G>C n.2407G>C	ClinVar gnomAD v4
19	g.11129553G=	CA2322780275	LDLR	c.2688G= (p.Trp896=) c.499G= (n.499G=) c.2310G= (p.Trp770=) c.2430G= (p.Trp810=) c.2684G= c.1926G= (p.Trp642=) c.2307G= (p.Trp769=) c.1896G= (p.Trp632=) c.2492G= (p.Gly831=) n.108+1899G= c.2352G= (p.Trp784=) c.2049G= (p.Trp683=) n.2440G= n.2764G= n.2407G=
19	g.11129553G>T	CA404098681	LDLR	c.2688G>T (p.Trp896Cys) c.499G>T (n.499G>T) c.2310G>T (p.Trp770Cys) c.2430G>T (p.Trp810Cys) c.2684G>T c.1926G>T (p.Trp642Cys) c.2307G>T (p.Trp769Cys) c.1896G>T (p.Trp632Cys) c.2492G>T (p.Gly831Val) n.108+1899G>T c.2352G>T (p.Trp784Cys) c.2049G>T (p.Trp683Cys) n.2440G>T n.2764G>T n.2407G>T
19	g.11129554A=	CA2322780276	LDLR	c.2689A= (p.Lys897=) c.500A= (n.500A=) c.2311A= (p.Lys771=) c.2431A= (p.Lys811=) c.2685A= c.1927A= (p.Lys643=) c.2308A= (p.Lys770=) c.1897A= (p.Lys633=) c.2493A= (p.Gly831=) n.108+1900A= c.2353A= (p.Lys785=) c.2050A= (p.Lys684=) n.2441A= n.2765A= n.2408A=
19	g.11129554A>C	CA404098689	LDLR	c.2689A>C (p.Lys897Gln) c.500A>C (n.500A>C) c.2311A>C (p.Lys771Gln) c.2431A>C (p.Lys811Gln) c.2685A>C c.1927A>C (p.Lys643Gln) c.2308A>C (p.Lys770Gln) c.1897A>C (p.Lys633Gln) c.2493A>C (p.Gly831=) n.108+1900A>C c.2353A>C (p.Lys785Gln) c.2050A>C (p.Lys684Gln) n.2441A>C n.2765A>C n.2408A>C
19	g.11129554A>G	CA404098692	LDLR	c.2689A>G (p.Lys897Glu) c.500A>G (n.500A>G) c.2311A>G (p.Lys771Glu) c.2431A>G (p.Lys811Glu) c.2685A>G c.1927A>G (p.Lys643Glu) c.2308A>G (p.Lys770Glu) c.1897A>G (p.Lys633Glu) c.2493A>G (p.Gly831=) n.108+1900A>G c.2353A>G (p.Lys785Glu) c.2050A>G (p.Lys684Glu) n.2441A>G n.2765A>G n.2408A>G
19	g.11129554A>T	CA10585865	LDLR	c.2689A>T (p.Lys897Ter) c.500A>T (n.500A>T) c.2311A>T (p.Lys771Ter) c.2431A>T (p.Lys811Ter) c.2685A>T c.1927A>T (p.Lys643Ter) c.2308A>T (p.Lys770Ter) c.1897A>T (p.Lys633Ter) c.2493A>T (p.Gly831=) n.108+1900A>T c.2353A>T (p.Lys785Ter) c.2050A>T (p.Lys684Ter) n.2441A>T n.2765A>T n.2408A>T	ClinVar dbSNP gnomAD v4
19	g.11129554_11129555insTTCTCCTCCCTCAGCCTCCCAAGT	CA2582476513	LDLR	c.2689_2690insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys897IlefsTer9) c.500_501insTTCTCCTCCCTCAGCCTCCCAAGT (n.500_501insTTCTCCTCCCTCAGCCTCCCAAGT) c.2311_2312insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys771IlefsTer9) c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys811IlefsTer9) c.2685_2686insTTCTCCTCCCTCAGCCTCCCAAGT c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys643IlefsTer9) c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys770IlefsTer9) c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys633IlefsTer9) c.2493_2494insTTCTCCTCCCTCAGCCTCCCAAGT (p.Gly831_Arg832insPheSerSerLeuSerLeuProSer) n.108+1900_108+1901insTTCTCCTCCCTCAGCCTCCCAAGT c.2353_2354insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys785IlefsTer9) c.2050_2051insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys684IlefsTer9) n.2441_2442insTTCTCCTCCCTCAGCCTCCCAAGT n.2765_2766insTTCTCCTCCCTCAGCCTCCCAAGT n.2408_2409insTTCTCCTCCCTCAGCCTCCCAAGT	gnomAD v4
19	g.11129555A>C	CA404098698	LDLR	c.2690A>C (p.Lys897Thr) c.501A>C (n.501A>C) c.2312A>C (p.Lys771Thr) c.2432A>C (p.Lys811Thr) c.2686A>C c.1928A>C (p.Lys643Thr) c.2309A>C (p.Lys770Thr) c.1898A>C (p.Lys633Thr) c.2494A>C (p.Arg832=) n.108+1901A>C c.2354A>C (p.Lys785Thr) c.2051A>C (p.Lys684Thr) n.2442A>C n.2766A>C n.2409A>C
19	g.11129555A>G	CA404098700	LDLR	c.2690A>G (p.Lys897Arg) c.501A>G (n.501A>G) c.2312A>G (p.Lys771Arg) c.2432A>G (p.Lys811Arg) c.2686A>G c.1928A>G (p.Lys643Arg) c.2309A>G (p.Lys770Arg) c.1898A>G (p.Lys633Arg) c.2494A>G (p.Arg832Gly) n.108+1901A>G c.2354A>G (p.Lys785Arg) c.2051A>G (p.Lys684Arg) n.2442A>G n.2766A>G n.2409A>G	ClinVar
19	g.11129555A>T	CA404098705	LDLR	c.2690A>T (p.Lys897Met) c.501A>T (n.501A>T) c.2312A>T (p.Lys771Met) c.2432A>T (p.Lys811Met) c.2686A>T c.1928A>T (p.Lys643Met) c.2309A>T (p.Lys770Met) c.1898A>T (p.Lys633Met) c.2494A>T (p.Arg832Ter) n.108+1901A>T c.2354A>T (p.Lys785Met) c.2051A>T (p.Lys684Met) n.2442A>T n.2766A>T n.2409A>T
19	g.11129556G>A	CA404098711	LDLR	c.2691G>A (p.Lys897=) c.502G>A (n.502G>A) c.2313G>A (p.Lys771=) c.2433G>A (p.Lys811=) c.2687G>A c.1929G>A (p.Lys643=) c.2310G>A (p.Lys770=) c.1899G>A (p.Lys633=) c.2495G>A (p.Arg832Lys) n.108+1902G>A c.2355G>A (p.Lys785=) c.2052G>A (p.Lys684=) n.2443G>A n.2767G>A n.2410G>A	gnomAD v4
19	g.11129556G>C	CA404098714	LDLR	c.2691G>C (p.Lys897Asn) c.502G>C (n.502G>C) c.2313G>C (p.Lys771Asn) c.2433G>C (p.Lys811Asn) c.2687G>C c.1929G>C (p.Lys643Asn) c.2310G>C (p.Lys770Asn) c.1899G>C (p.Lys633Asn) c.2495G>C (p.Arg832Thr) n.108+1902G>C c.2355G>C (p.Lys785Asn) c.2052G>C (p.Lys684Asn) n.2443G>C n.2767G>C n.2410G>C	ClinVar gnomAD v4
19	g.11129556G>T	CA404098716	LDLR	c.2691G>T (p.Lys897Asn) c.502G>T (n.502G>T) c.2313G>T (p.Lys771Asn) c.2433G>T (p.Lys811Asn) c.2687G>T c.1929G>T (p.Lys643Asn) c.2310G>T (p.Lys770Asn) c.1899G>T (p.Lys633Asn) c.2495G>T (p.Arg832Ile) n.108+1902G>T c.2355G>T (p.Lys785Asn) c.2052G>T (p.Lys684Asn) n.2443G>T n.2767G>T n.2410G>T
19	g.11129557A>C	CA404098720	LDLR	c.2692A>C (p.Asn898His) c.503A>C (n.503A>C) c.2314A>C (p.Asn772His) c.2434A>C (p.Asn812His) c.2688A>C c.1930A>C (p.Asn644His) c.2311A>C (p.Asn771His) c.1900A>C (p.Asn634His) c.2496A>C (p.Arg832Ser) n.108+1903A>C c.2356A>C (p.Asn786His) c.2053A>C (p.Asn685His) n.2444A>C n.2768A>C n.2411A>C
19	g.11129557A>G	CA404098721	LDLR	c.2692A>G (p.Asn898Asp) c.503A>G (n.503A>G) c.2314A>G (p.Asn772Asp) c.2434A>G (p.Asn812Asp) c.2688A>G c.1930A>G (p.Asn644Asp) c.2311A>G (p.Asn771Asp) c.1900A>G (p.Asn634Asp) c.2496A>G (p.Arg832=) n.108+1903A>G c.2356A>G (p.Asn786Asp) c.2053A>G (p.Asn685Asp) n.2444A>G n.2768A>G n.2411A>G
19	g.11129557A>T	CA404098722	LDLR	c.2692A>T (p.Asn898Tyr) c.503A>T (n.503A>T) c.2314A>T (p.Asn772Tyr) c.2434A>T (p.Asn812Tyr) c.2688A>T c.1930A>T (p.Asn644Tyr) c.2311A>T (p.Asn771Tyr) c.1900A>T (p.Asn634Tyr) c.2496A>T (p.Arg832Ser) n.108+1903A>T c.2356A>T (p.Asn786Tyr) c.2053A>T (p.Asn685Tyr) n.2444A>T n.2768A>T n.2411A>T
19	g.11129558A>C	CA404098727	LDLR	c.2693A>C (p.Asn898Thr) c.504A>C (n.504A>C) c.2315A>C (p.Asn772Thr) c.2435A>C (p.Asn812Thr) c.2689A>C c.1931A>C (p.Asn644Thr) c.2312A>C (p.Asn771Thr) c.1901A>C (p.Asn634Thr) c.2497A>C (p.Thr833Pro) n.108+1904A>C c.2357A>C (p.Asn786Thr) c.2054A>C (p.Asn685Thr) n.2445A>C n.2769A>C n.2412A>C
19	g.11129558A>G	CA404098730	LDLR	c.2693A>G (p.Asn898Ser) c.504A>G (n.504A>G) c.2315A>G (p.Asn772Ser) c.2435A>G (p.Asn812Ser) c.2689A>G c.1931A>G (p.Asn644Ser) c.2312A>G (p.Asn771Ser) c.1901A>G (p.Asn634Ser) c.2497A>G (p.Thr833Ala) n.108+1904A>G c.2357A>G (p.Asn786Ser) c.2054A>G (p.Asn685Ser) n.2445A>G n.2769A>G n.2412A>G
19	g.11129558A>T	CA404098725	LDLR	c.2693A>T (p.Asn898Ile) c.504A>T (n.504A>T) c.2315A>T (p.Asn772Ile) c.2435A>T (p.Asn812Ile) c.2689A>T c.1931A>T (p.Asn644Ile) c.2312A>T (p.Asn771Ile) c.1901A>T (p.Asn634Ile) c.2497A>T (p.Thr833Ser) n.108+1904A>T c.2357A>T (p.Asn786Ile) c.2054A>T (p.Asn685Ile) n.2445A>T n.2769A>T n.2412A>T
19	g.11129559C>A	CA404098736	LDLR	c.2694C>A (p.Asn898Lys) c.505C>A (n.505C>A) c.2316C>A (p.Asn772Lys) c.2436C>A (p.Asn812Lys) c.2690C>A c.1932C>A (p.Asn644Lys) c.2313C>A (p.Asn771Lys) c.1902C>A (p.Asn634Lys) c.2498C>A (p.Thr833Asn) n.108+1905C>A c.2358C>A (p.Asn786Lys) c.2055C>A (p.Asn685Lys) n.2446C>A n.2770C>A n.2413C>A
19	g.11129559C>G	CA404098740	LDLR	c.2694C>G (p.Asn898Lys) c.505C>G (n.505C>G) c.2316C>G (p.Asn772Lys) c.2436C>G (p.Asn812Lys) c.2690C>G c.1932C>G (p.Asn644Lys) c.2313C>G (p.Asn771Lys) c.1902C>G (p.Asn634Lys) c.2498C>G (p.Thr833Ser) n.108+1905C>G c.2358C>G (p.Asn786Lys) c.2055C>G (p.Asn685Lys) n.2446C>G n.2770C>G n.2413C>G
19	g.11129559C>T	CA404098745	LDLR	c.2694C>T (p.Asn898=) c.505C>T (n.505C>T) c.2316C>T (p.Asn772=) c.2436C>T (p.Asn812=) c.2690C>T c.1932C>T (p.Asn644=) c.2313C>T (p.Asn771=) c.1902C>T (p.Asn634=) c.2498C>T (p.Thr833Ile) n.108+1905C>T c.2358C>T (p.Asn786=) c.2055C>T (p.Asn685=) n.2446C>T n.2770C>T n.2413C>T
19	g.11129560T>A	CA404098749	LDLR	c.2695T>A (p.Trp899Arg) c.506T>A (n.506T>A) c.2317T>A (p.Trp773Arg) c.2437T>A (p.Trp813Arg) c.2691T>A c.1933T>A (p.Trp645Arg) c.2314T>A (p.Trp772Arg) c.1903T>A (p.Trp635Arg) c.2499T>A (p.Thr833=) n.108+1906T>A c.2359T>A (p.Trp787Arg) c.2056T>A (p.Trp686Arg) n.2447T>A n.2771T>A n.2414T>A
19	g.11129560T>C	CA404098753	LDLR	c.2695T>C (p.Trp899Arg) c.506T>C (n.506T>C) c.2317T>C (p.Trp773Arg) c.2437T>C (p.Trp813Arg) c.2691T>C c.1933T>C (p.Trp645Arg) c.2314T>C (p.Trp772Arg) c.1903T>C (p.Trp635Arg) c.2499T>C (p.Thr833=) n.108+1906T>C c.2359T>C (p.Trp787Arg) c.2056T>C (p.Trp686Arg) n.2447T>C n.2771T>C n.2414T>C
19	g.11129560T>G	CA404098759	LDLR	c.2695T>G (p.Trp899Gly) c.506T>G (n.506T>G) c.2317T>G (p.Trp773Gly) c.2437T>G (p.Trp813Gly) c.2691T>G c.1933T>G (p.Trp645Gly) c.2314T>G (p.Trp772Gly) c.1903T>G (p.Trp635Gly) c.2499T>G (p.Thr833=) n.108+1906T>G c.2359T>G (p.Trp787Gly) c.2056T>G (p.Trp686Gly) n.2447T>G n.2771T>G n.2414T>G
19	g.11129561G>A	CA10585866	LDLR	c.2696G>A (p.Trp899Ter) c.507G>A (n.507G>A) c.2318G>A (p.Trp773Ter) c.2438G>A (p.Trp813Ter) c.2692G>A c.1934G>A (p.Trp645Ter) c.2315G>A (p.Trp772Ter) c.1904G>A (p.Trp635Ter) c.2500G>A (p.Gly834Ser) n.108+1907G>A c.2360G>A (p.Trp787Ter) c.2057G>A (p.Trp686Ter) n.2448G>A n.2772G>A n.2415G>A	ClinVar dbSNP gnomAD v4
19	g.11129561G>C	CA404098762	LDLR	c.2696G>C (p.Trp899Ser) c.507G>C (n.507G>C) c.2318G>C (p.Trp773Ser) c.2438G>C (p.Trp813Ser) c.2692G>C c.1934G>C (p.Trp645Ser) c.2315G>C (p.Trp772Ser) c.1904G>C (p.Trp635Ser) c.2500G>C (p.Gly834Arg) n.108+1907G>C c.2360G>C (p.Trp787Ser) c.2057G>C (p.Trp686Ser) n.2448G>C n.2772G>C n.2415G>C
19	g.11129561G=	CA2322780277	LDLR	c.2696G= (p.Trp899=) c.507G= (n.507G=) c.2318G= (p.Trp773=) c.2438G= (p.Trp813=) c.2692G= c.1934G= (p.Trp645=) c.2315G= (p.Trp772=) c.1904G= (p.Trp635=) c.2500G= (p.Gly834=) n.108+1907G= c.2360G= (p.Trp787=) c.2057G= (p.Trp686=) n.2448G= n.2772G= n.2415G=
19	g.11129561G>T	CA404098767	LDLR	c.2696G>T (p.Trp899Leu) c.507G>T (n.507G>T) c.2318G>T (p.Trp773Leu) c.2438G>T (p.Trp813Leu) c.2692G>T c.1934G>T (p.Trp645Leu) c.2315G>T (p.Trp772Leu) c.1904G>T (p.Trp635Leu) c.2500G>T (p.Gly834Cys) n.108+1907G>T c.2360G>T (p.Trp787Leu) c.2057G>T (p.Trp686Leu) n.2448G>T n.2772G>T n.2415G>T
19	g.11129562G>A	CA023668	LDLR	c.2697G>A (p.Trp899Ter) c.508G>A (n.508G>A) c.2319G>A (p.Trp773Ter) c.2439G>A (p.Trp813Ter) c.2693G>A c.1935G>A (p.Trp645Ter) c.2316G>A (p.Trp772Ter) c.1905G>A (p.Trp635Ter) c.2501G>A (p.Gly834Asp) n.108+1908G>A c.2361G>A (p.Trp787Ter) c.2058G>A (p.Trp686Ter) n.2449G>A n.2773G>A n.2416G>A	ClinVar dbSNP
19	g.11129562G>C	CA404098779	LDLR	c.2697G>C (p.Trp899Cys) c.508G>C (n.508G>C) c.2319G>C (p.Trp773Cys) c.2439G>C (p.Trp813Cys) c.2693G>C c.1935G>C (p.Trp645Cys) c.2316G>C (p.Trp772Cys) c.1905G>C (p.Trp635Cys) c.2501G>C (p.Gly834Ala) n.108+1908G>C c.2361G>C (p.Trp787Cys) c.2058G>C (p.Trp686Cys) n.2449G>C n.2773G>C n.2416G>C
19	g.11129562G=	CA2322780278	LDLR	c.2697G= (p.Trp899=) c.508G= (n.508G=) c.2319G= (p.Trp773=) c.2439G= (p.Trp813=) c.2693G= c.1935G= (p.Trp645=) c.2316G= (p.Trp772=) c.1905G= (p.Trp635=) c.2501G= (p.Gly834=) n.108+1908G= c.2361G= (p.Trp787=) c.2058G= (p.Trp686=) n.2449G= n.2773G= n.2416G=
19	g.11129562G>T	CA404098780	LDLR	c.2697G>T (p.Trp899Cys) c.508G>T (n.508G>T) c.2319G>T (p.Trp773Cys) c.2439G>T (p.Trp813Cys) c.2693G>T c.1935G>T (p.Trp645Cys) c.2316G>T (p.Trp772Cys) c.1905G>T (p.Trp635Cys) c.2501G>T (p.Gly834Val) n.108+1908G>T c.2361G>T (p.Trp787Cys) c.2058G>T (p.Trp686Cys) n.2449G>T n.2773G>T n.2416G>T
19	g.11129563C>A	CA505743517	LDLR	c.2698C>A (p.Arg900=) c.509C>A (n.509C>A) c.2320C>A (p.Arg774=) c.2440C>A (p.Arg814=) c.2694C>A c.1936C>A (p.Arg646=) c.2317C>A (p.Arg773=) c.1906C>A (p.Arg636=) c.2502C>A (p.Gly834=) n.108+1909C>A c.2362C>A (p.Arg788=) c.2059C>A (p.Arg687=) n.2450C>A n.2774C>A n.2417C>A	ClinVar dbSNP gnomAD v4
19	g.11129563C=	CA2322780279	LDLR	c.2698C= (p.Arg900=) c.509C= (n.509C=) c.2320C= (p.Arg774=) c.2440C= (p.Arg814=) c.2694C= c.1936C= (p.Arg646=) c.2317C= (p.Arg773=) c.1906C= (p.Arg636=) c.2502C= (p.Gly834=) n.108+1909C= c.2362C= (p.Arg788=) c.2059C= (p.Arg687=) n.2450C= n.2774C= n.2417C=
19	g.11129563C>G	CA404098784	LDLR	c.2698C>G (p.Arg900Gly) c.509C>G (n.509C>G) c.2320C>G (p.Arg774Gly) c.2440C>G (p.Arg814Gly) c.2694C>G c.1936C>G (p.Arg646Gly) c.2317C>G (p.Arg773Gly) c.1906C>G (p.Arg636Gly) c.2502C>G (p.Gly834=) n.108+1909C>G c.2362C>G (p.Arg788Gly) c.2059C>G (p.Arg687Gly) n.2450C>G n.2774C>G n.2417C>G
19	g.11129563C>T	CA040769	LDLR	c.2698C>T (p.Arg900Trp) c.509C>T (n.509C>T) c.2320C>T (p.Arg774Trp) c.2440C>T (p.Arg814Trp) c.2694C>T c.1936C>T (p.Arg646Trp) c.2317C>T (p.Arg773Trp) c.1906C>T (p.Arg636Trp) c.2502C>T (p.Gly834=) n.108+1909C>T c.2362C>T (p.Arg788Trp) c.2059C>T (p.Arg687Trp) n.2450C>T n.2774C>T n.2417C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129564G>A	CA023671	LDLR	c.2699G>A (p.Arg900Gln) c.510G>A (n.510G>A) c.2321G>A (p.Arg774Gln) c.2441G>A (p.Arg814Gln) c.2695G>A c.1937G>A (p.Arg646Gln) c.2318G>A (p.Arg773Gln) c.1907G>A (p.Arg636Gln) c.2503G>A (p.Gly835Ser) n.108+1910G>A c.2363G>A (p.Arg788Gln) c.2060G>A (p.Arg687Gln) n.2451G>A n.2775G>A n.2418G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129564G>C	CA404098787	LDLR	c.2699G>C (p.Arg900Pro) c.510G>C (n.510G>C) c.2321G>C (p.Arg774Pro) c.2441G>C (p.Arg814Pro) c.2695G>C c.1937G>C (p.Arg646Pro) c.2318G>C (p.Arg773Pro) c.1907G>C (p.Arg636Pro) c.2503G>C (p.Gly835Arg) n.108+1910G>C c.2363G>C (p.Arg788Pro) c.2060G>C (p.Arg687Pro) n.2451G>C n.2775G>C n.2418G>C
19	g.11129564G=	CA2322780280	LDLR	c.2699G= (p.Arg900=) c.510G= (n.510G=) c.2321G= (p.Arg774=) c.2441G= (p.Arg814=) c.2695G= c.1937G= (p.Arg646=) c.2318G= (p.Arg773=) c.1907G= (p.Arg636=) c.2503G= (p.Gly835=) n.108+1910G= c.2363G= (p.Arg788=) c.2060G= (p.Arg687=) n.2451G= n.2775G= n.2418G=
19	g.11129564G>T	CA404098797	LDLR	c.2699G>T (p.Arg900Leu) c.510G>T (n.510G>T) c.2321G>T (p.Arg774Leu) c.2441G>T (p.Arg814Leu) c.2695G>T c.1937G>T (p.Arg646Leu) c.2318G>T (p.Arg773Leu) c.1907G>T (p.Arg636Leu) c.2503G>T (p.Gly835Cys) n.108+1910G>T c.2363G>T (p.Arg788Leu) c.2060G>T (p.Arg687Leu) n.2451G>T n.2775G>T n.2418G>T	gnomAD v4
19	g.11129565del	CA2499225332	LDLR	c.2700del (p.Lys902ArgfsTer?) c.511del (n.511del) c.2322del (p.Lys776ArgfsTer?) c.2442del (p.Lys816ArgfsTer?) c.2696del c.1938del (p.Lys648ArgfsTer?) c.2319del (p.Lys775ArgfsTer?) c.1908del (p.Lys638ArgfsTer?) c.2504del (p.Gly835AlafsTer2) n.108+1911del c.2364del (p.Lys790ArgfsTer?) c.2061del (p.Lys689ArgfsTer?) n.2452del n.2776del n.2419del	ClinVar dbSNP
19	g.11129565G>A	CA305309104	LDLR	c.2700G>A (p.Arg900=) c.511G>A (n.511G>A) c.2322G>A (p.Arg774=) c.2442G>A (p.Arg814=) c.2696G>A c.1938G>A (p.Arg646=) c.2319G>A (p.Arg773=) c.1908G>A (p.Arg636=) c.2504G>A (p.Gly835Asp) n.108+1911G>A c.2364G>A (p.Arg788=) c.2061G>A (p.Arg687=) n.2452G>A n.2776G>A n.2419G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129565G>C	CA404098808	LDLR	c.2700G>C (p.Arg900=) c.511G>C (n.511G>C) c.2322G>C (p.Arg774=) c.2442G>C (p.Arg814=) c.2696G>C c.1938G>C (p.Arg646=) c.2319G>C (p.Arg773=) c.1908G>C (p.Arg636=) c.2504G>C (p.Gly835Ala) n.108+1911G>C c.2364G>C (p.Arg788=) c.2061G>C (p.Arg687=) n.2452G>C n.2776G>C n.2419G>C
19	g.11129565G=	CA2322780281	LDLR	c.2700G= (p.Arg900=) c.511G= (n.511G=) c.2322G= (p.Arg774=) c.2442G= (p.Arg814=) c.2696G= c.1938G= (p.Arg646=) c.2319G= (p.Arg773=) c.1908G= (p.Arg636=) c.2504G= (p.Gly835=) n.108+1911G= c.2364G= (p.Arg788=) c.2061G= (p.Arg687=) n.2452G= n.2776G= n.2419G=
19	g.11129565G>T	CA404098811	LDLR	c.2700G>T (p.Arg900=) c.511G>T (n.511G>T) c.2322G>T (p.Arg774=) c.2442G>T (p.Arg814=) c.2696G>T c.1938G>T (p.Arg646=) c.2319G>T (p.Arg773=) c.1908G>T (p.Arg636=) c.2504G>T (p.Gly835Val) n.108+1911G>T c.2364G>T (p.Arg788=) c.2061G>T (p.Arg687=) n.2452G>T n.2776G>T n.2419G>T
19	g.11129566C>A	CA404098812	LDLR	c.2701C>A (p.Leu901Ile) c.512C>A (n.512C>A) c.2323C>A (p.Leu775Ile) c.2443C>A (p.Leu815Ile) c.2697C>A c.1939C>A (p.Leu647Ile) c.2320C>A (p.Leu774Ile) c.1909C>A (p.Leu637Ile) c.2505C>A (p.Gly835=) n.108+1912C>A c.2365C>A (p.Leu789Ile) c.2062C>A (p.Leu688Ile) n.2453C>A n.2777C>A n.2420C>A	gnomAD v4
19	g.11129566C>G	CA404098813	LDLR	c.2701C>G (p.Leu901Val) c.512C>G (n.512C>G) c.2323C>G (p.Leu775Val) c.2443C>G (p.Leu815Val) c.2697C>G c.1939C>G (p.Leu647Val) c.2320C>G (p.Leu774Val) c.1909C>G (p.Leu637Val) c.2505C>G (p.Gly835=) n.108+1912C>G c.2365C>G (p.Leu789Val) c.2062C>G (p.Leu688Val) n.2453C>G n.2777C>G n.2420C>G	dbSNP
19	g.11129566C>T	CA404098814	LDLR	c.2701C>T (p.Leu901Phe) c.512C>T (n.512C>T) c.2323C>T (p.Leu775Phe) c.2443C>T (p.Leu815Phe) c.2697C>T c.1939C>T (p.Leu647Phe) c.2320C>T (p.Leu774Phe) c.1909C>T (p.Leu637Phe) c.2505C>T (p.Gly835=) n.108+1912C>T c.2365C>T (p.Leu789Phe) c.2062C>T (p.Leu688Phe) n.2453C>T n.2777C>T n.2420C>T
19	g.11129567T>A	CA404098819	LDLR	c.2702T>A (p.Leu901His) c.513T>A (n.513T>A) c.2324T>A (p.Leu775His) c.2444T>A (p.Leu815His) c.2698T>A c.1940T>A (p.Leu647His) c.2321T>A (p.Leu774His) c.1910T>A (p.Leu637His) c.2506T>A (p.Leu836Ile) n.108+1913T>A c.2366T>A (p.Leu789His) c.2063T>A (p.Leu688His) n.2454T>A n.2778T>A n.2421T>A	ClinVar dbSNP
19	g.11129567T>C	CA404098822	LDLR	c.2702T>C (p.Leu901Pro) c.513T>C (n.513T>C) c.2324T>C (p.Leu775Pro) c.2444T>C (p.Leu815Pro) c.2698T>C c.1940T>C (p.Leu647Pro) c.2321T>C (p.Leu774Pro) c.1910T>C (p.Leu637Pro) c.2506T>C (p.Leu836=) n.108+1913T>C c.2366T>C (p.Leu789Pro) c.2063T>C (p.Leu688Pro) n.2454T>C n.2778T>C n.2421T>C
19	g.11129567T>G	CA404098826	LDLR	c.2702T>G (p.Leu901Arg) c.513T>G (n.513T>G) c.2324T>G (p.Leu775Arg) c.2444T>G (p.Leu815Arg) c.2698T>G c.1940T>G (p.Leu647Arg) c.2321T>G (p.Leu774Arg) c.1910T>G (p.Leu637Arg) c.2506T>G (p.Leu836Val) n.108+1913T>G c.2366T>G (p.Leu789Arg) c.2063T>G (p.Leu688Arg) n.2454T>G n.2778T>G n.2421T>G
19	g.11129567T=	CA2322780282	LDLR	c.2702T= (p.Leu901=) c.513T= (n.513T=) c.2324T= (p.Leu775=) c.2444T= (p.Leu815=) c.2698T= c.1940T= (p.Leu647=) c.2321T= (p.Leu774=) c.1910T= (p.Leu637=) c.2506T= (p.Leu836=) n.108+1913T= c.2366T= (p.Leu789=) c.2063T= (p.Leu688=) n.2454T= n.2778T= n.2421T=
19	g.11129568T>A	CA404098830	LDLR	c.2703T>A (p.Leu901=) c.514T>A (n.514T>A) c.2325T>A (p.Leu775=) c.2445T>A (p.Leu815=) c.2699T>A c.1941T>A (p.Leu647=) c.2322T>A (p.Leu774=) c.1911T>A (p.Leu637=) c.2507T>A (p.Leu836Ter) n.108+1914T>A c.2367T>A (p.Leu789=) c.2064T>A (p.Leu688=) n.2455T>A n.2779T>A n.2422T>A
19	g.11129568T>C	CA404098833	LDLR	c.2703T>C (p.Leu901=) c.514T>C (n.514T>C) c.2325T>C (p.Leu775=) c.2445T>C (p.Leu815=) c.2699T>C c.1941T>C (p.Leu647=) c.2322T>C (p.Leu774=) c.1911T>C (p.Leu637=) c.2507T>C (p.Leu836Ser) n.108+1914T>C c.2367T>C (p.Leu789=) c.2064T>C (p.Leu688=) n.2455T>C n.2779T>C n.2422T>C
19	g.11129568T>G	CA404098837	LDLR	c.2703T>G (p.Leu901=) c.514T>G (n.514T>G) c.2325T>G (p.Leu775=) c.2445T>G (p.Leu815=) c.2699T>G c.1941T>G (p.Leu647=) c.2322T>G (p.Leu774=) c.1911T>G (p.Leu637=) c.2507T>G (p.Leu836Ter) n.108+1914T>G c.2367T>G (p.Leu789=) c.2064T>G (p.Leu688=) n.2455T>G n.2779T>G n.2422T>G
19	g.11129568T=	CA2322780283	LDLR	c.2703T= (p.Leu901=) c.514T= (n.514T=) c.2325T= (p.Leu775=) c.2445T= (p.Leu815=) c.2699T= c.1941T= (p.Leu647=) c.2322T= (p.Leu774=) c.1911T= (p.Leu637=) c.2507T= (p.Leu836=) n.108+1914T= c.2367T= (p.Leu789=) c.2064T= (p.Leu688=) n.2455T= n.2779T= n.2422T=
19	g.11129569A=	CA2322780284	LDLR	c.2704A= (p.Lys902=) c.515A= (n.515A=) c.2326A= (p.Lys776=) c.2446A= (p.Lys816=) c.2700A= c.1942A= (p.Lys648=) c.2323A= (p.Lys775=) c.1912A= (p.Lys638=) c.2508A= (p.Leu836=) n.108+1915A= c.2368A= (p.Lys790=) c.2065A= (p.Lys689=) n.2456A= n.2780A= n.2423A=
19	g.11129569A>C	CA404098844	LDLR	c.2704A>C (p.Lys902Gln) c.515A>C (n.515A>C) c.2326A>C (p.Lys776Gln) c.2446A>C (p.Lys816Gln) c.2700A>C c.1942A>C (p.Lys648Gln) c.2323A>C (p.Lys775Gln) c.1912A>C (p.Lys638Gln) c.2508A>C (p.Leu836Phe) n.108+1915A>C c.2368A>C (p.Lys790Gln) c.2065A>C (p.Lys689Gln) n.2456A>C n.2780A>C n.2423A>C	ClinVar dbSNP
19	g.11129569A>G	CA404098854	LDLR	c.2704A>G (p.Lys902Glu) c.515A>G (n.515A>G) c.2326A>G (p.Lys776Glu) c.2446A>G (p.Lys816Glu) c.2700A>G c.1942A>G (p.Lys648Glu) c.2323A>G (p.Lys775Glu) c.1912A>G (p.Lys638Glu) c.2508A>G (p.Leu836=) n.108+1915A>G c.2368A>G (p.Lys790Glu) c.2065A>G (p.Lys689Glu) n.2456A>G n.2780A>G n.2423A>G	ClinVar
19	g.11129569A>T	CA10585867	LDLR	c.2704A>T (p.Lys902Ter) c.515A>T (n.515A>T) c.2326A>T (p.Lys776Ter) c.2446A>T (p.Lys816Ter) c.2700A>T c.1942A>T (p.Lys648Ter) c.2323A>T (p.Lys775Ter) c.1912A>T (p.Lys638Ter) c.2508A>T (p.Leu836Phe) n.108+1915A>T c.2368A>T (p.Lys790Ter) c.2065A>T (p.Lys689Ter) n.2456A>T n.2780A>T n.2423A>T	ClinVar dbSNP
19	g.11129570_11129573dup	CA023673	LDLR	c.2705_2708dup (p.Asn903LysfsTer9) c.516_519dup (n.516_519dup) c.2327_2330dup (p.Asn777LysfsTer9) c.2447_2450dup (p.Asn817LysfsTer9) c.2701_2704dup c.1943_1946dup (p.Asn649LysfsTer9) c.2324_2327dup (p.Asn776LysfsTer9) c.1913_1916dup (p.Asn639LysfsTer9) c.2509_2512dup (p.Thr838LysfsTer?) n.108+1916_108+1919dup c.2369_2372dup (p.Asn791LysfsTer9) c.2066_2069dup (p.Asn690LysfsTer9) n.2457_2460dup n.2781_2784dup n.2424_2427dup	ClinVar dbSNP
19	g.11129585_11129586insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT	CA2499225333	LDLR	c.2720_2721insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile908GlyfsTer22) c.531_532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (n.531_532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT) c.2342_2343insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile782GlyfsTer22) c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile822GlyfsTer22) c.2716_2717insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT c.1958_1959insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile654GlyfsTer22) c.2339_2340insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile781GlyfsTer22) c.1928_1929insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile644GlyfsTer22) c.2524_2525insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ser842LeufsTer10) n.108+1931_108+1932insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT c.2384_2385insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile796GlyfsTer22) c.2081_2082insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile695GlyfsTer22) n.2796_2797insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT n.2439_2440insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT	ClinVar dbSNP
19	g.11129570A>C	CA404098863	LDLR	c.2705A>C (p.Lys902Thr) c.516A>C (n.516A>C) c.2327A>C (p.Lys776Thr) c.2447A>C (p.Lys816Thr) c.2701A>C c.1943A>C (p.Lys648Thr) c.2324A>C (p.Lys775Thr) c.1913A>C (p.Lys638Thr) c.2509A>C (p.Arg837=) n.108+1916A>C c.2369A>C (p.Lys790Thr) c.2066A>C (p.Lys689Thr) n.2457A>C n.2781A>C n.2424A>C
19	g.11129570A>G	CA404098866	LDLR	c.2705A>G (p.Lys902Arg) c.516A>G (n.516A>G) c.2327A>G (p.Lys776Arg) c.2447A>G (p.Lys816Arg) c.2701A>G c.1943A>G (p.Lys648Arg) c.2324A>G (p.Lys775Arg) c.1913A>G (p.Lys638Arg) c.2509A>G (p.Arg837Gly) n.108+1916A>G c.2369A>G (p.Lys790Arg) c.2066A>G (p.Lys689Arg) n.2457A>G n.2781A>G n.2424A>G	ClinVar
19	g.11129570A>T	CA404098869	LDLR	c.2705A>T (p.Lys902Met) c.516A>T (n.516A>T) c.2327A>T (p.Lys776Met) c.2447A>T (p.Lys816Met) c.2701A>T c.1943A>T (p.Lys648Met) c.2324A>T (p.Lys775Met) c.1913A>T (p.Lys638Met) c.2509A>T (p.Arg837Ter) n.108+1916A>T c.2369A>T (p.Lys790Met) c.2066A>T (p.Lys689Met) n.2457A>T n.2781A>T n.2424A>T
19	g.11129571G>A	CA404098873	LDLR	c.2706G>A (p.Lys902=) c.517G>A (n.517G>A) c.2328G>A (p.Lys776=) c.2448G>A (p.Lys816=) c.2702G>A c.1944G>A (p.Lys648=) c.2325G>A (p.Lys775=) c.1914G>A (p.Lys638=) c.2510G>A (p.Arg837Lys) n.108+1917G>A c.2370G>A (p.Lys790=) c.2067G>A (p.Lys689=) n.2458G>A n.2782G>A n.2425G>A
19	g.11129571G>C	CA404098878	LDLR	c.2706G>C (p.Lys902Asn) c.517G>C (n.517G>C) c.2328G>C (p.Lys776Asn) c.2448G>C (p.Lys816Asn) c.2702G>C c.1944G>C (p.Lys648Asn) c.2325G>C (p.Lys775Asn) c.1914G>C (p.Lys638Asn) c.2510G>C (p.Arg837Thr) n.108+1917G>C c.2370G>C (p.Lys790Asn) c.2067G>C (p.Lys689Asn) n.2458G>C n.2782G>C n.2425G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129571G=	CA2322780285	LDLR	c.2706G= (p.Lys902=) c.517G= (n.517G=) c.2328G= (p.Lys776=) c.2448G= (p.Lys816=) c.2702G= c.1944G= (p.Lys648=) c.2325G= (p.Lys775=) c.1914G= (p.Lys638=) c.2510G= (p.Arg837=) n.108+1917G= c.2370G= (p.Lys790=) c.2067G= (p.Lys689=) n.2458G= n.2782G= n.2425G=
19	g.11129571G>T	CA404098881	LDLR	c.2706G>T (p.Lys902Asn) c.517G>T (n.517G>T) c.2328G>T (p.Lys776Asn) c.2448G>T (p.Lys816Asn) c.2702G>T c.1944G>T (p.Lys648Asn) c.2325G>T (p.Lys775Asn) c.1914G>T (p.Lys638Asn) c.2510G>T (p.Arg837Ile) n.108+1917G>T c.2370G>T (p.Lys790Asn) c.2067G>T (p.Lys689Asn) n.2458G>T n.2782G>T n.2425G>T
19	g.11129572A>C	CA404098887	LDLR	c.2707A>C (p.Asn903His) c.518A>C (n.518A>C) c.2329A>C (p.Asn777His) c.2449A>C (p.Asn817His) c.2703A>C c.1945A>C (p.Asn649His) c.2326A>C (p.Asn776His) c.1915A>C (p.Asn639His) c.2511A>C (p.Arg837Ser) n.108+1918A>C c.2371A>C (p.Asn791His) c.2068A>C (p.Asn690His) n.2459A>C n.2783A>C n.2426A>C
19	g.11129572A>G	CA404098891	LDLR	c.2707A>G (p.Asn903Asp) c.518A>G (n.518A>G) c.2329A>G (p.Asn777Asp) c.2449A>G (p.Asn817Asp) c.2703A>G c.1945A>G (p.Asn649Asp) c.2326A>G (p.Asn776Asp) c.1915A>G (p.Asn639Asp) c.2511A>G (p.Arg837=) n.108+1918A>G c.2371A>G (p.Asn791Asp) c.2068A>G (p.Asn690Asp) n.2459A>G n.2783A>G n.2426A>G
19	g.11129572A>T	CA404098896	LDLR	c.2707A>T (p.Asn903Tyr) c.518A>T (n.518A>T) c.2329A>T (p.Asn777Tyr) c.2449A>T (p.Asn817Tyr) c.2703A>T c.1945A>T (p.Asn649Tyr) c.2326A>T (p.Asn776Tyr) c.1915A>T (p.Asn639Tyr) c.2511A>T (p.Arg837Ser) n.108+1918A>T c.2371A>T (p.Asn791Tyr) c.2068A>T (p.Asn690Tyr) n.2459A>T n.2783A>T n.2426A>T
19	g.11129572_11129576del	CA2499225334	LDLR	c.2707_2711del (p.Asn903GlnfsTer6) c.518_522del (n.518_522del) c.2329_2333del (p.Asn777GlnfsTer6) c.2449_2453del (p.Asn817GlnfsTer6) c.2703_2707del c.1945_1949del (p.Asn649GlnfsTer6) c.2326_2330del (p.Asn776GlnfsTer6) c.1915_1919del (p.Asn639GlnfsTer6) c.2511_2515del (p.Arg837SerfsTer?) n.108+1918_108+1922del c.2371_2375del (p.Asn791GlnfsTer6) c.2068_2072del (p.Asn690GlnfsTer6) n.2783_2787del n.2426_2430del	ClinVar dbSNP
19	g.11129573A>C	CA404098898	LDLR	c.2708A>C (p.Asn903Thr) c.519A>C (n.519A>C) c.2330A>C (p.Asn777Thr) c.2450A>C (p.Asn817Thr) c.2704A>C c.1946A>C (p.Asn649Thr) c.2327A>C (p.Asn776Thr) c.1916A>C (p.Asn639Thr) c.2512A>C (p.Thr838Pro) n.108+1919A>C c.2372A>C (p.Asn791Thr) c.2069A>C (p.Asn690Thr) n.2460A>C n.2784A>C n.2427A>C
19	g.11129573A>G	CA404098901	LDLR	c.2708A>G (p.Asn903Ser) c.519A>G (n.519A>G) c.2330A>G (p.Asn777Ser) c.2450A>G (p.Asn817Ser) c.2704A>G c.1946A>G (p.Asn649Ser) c.2327A>G (p.Asn776Ser) c.1916A>G (p.Asn639Ser) c.2512A>G (p.Thr838Ala) n.108+1919A>G c.2372A>G (p.Asn791Ser) c.2069A>G (p.Asn690Ser) n.2460A>G n.2784A>G n.2427A>G
19	g.11129573A>T	CA404098902	LDLR	c.2708A>T (p.Asn903Ile) c.519A>T (n.519A>T) c.2330A>T (p.Asn777Ile) c.2450A>T (p.Asn817Ile) c.2704A>T c.1946A>T (p.Asn649Ile) c.2327A>T (p.Asn776Ile) c.1916A>T (p.Asn639Ile) c.2512A>T (p.Thr838Ser) n.108+1919A>T c.2372A>T (p.Asn791Ile) c.2069A>T (p.Asn690Ile) n.2460A>T n.2784A>T n.2427A>T	gnomAD v4
19	g.11129573_11129582delinsACATCAACAG	CA2322780286	LDLR	c.2708_2717delinsACATCAACAG (p.Asn903=) c.519_528delinsACATCAACAG (n.519_528delinsACATCAACAG) c.2330_2339delinsACATCAACAG (p.Asn777=) c.2450_2459delinsACATCAACAG (p.Asn817=) c.2704_2713delinsACATCAACAG c.1946_1955delinsACATCAACAG (p.Asn649=) c.2327_2336delinsACATCAACAG (p.Asn776=) c.1916_1925delinsACATCAACAG (p.Asn639=) c.2512_2521delinsACATCAACAG (p.Thr838=) n.108+1919_108+1928delinsACATCAACAG c.2372_2381delinsACATCAACAG (p.Asn791=) c.2069_2078delinsACATCAACAG (p.Asn690=) n.2784_2793delinsACATCAACAG n.2427_2436delinsACATCAACAG
19	g.11129574C>A	CA404098905	LDLR	c.2709C>A (p.Asn903Lys) c.520C>A (n.520C>A) c.2331C>A (p.Asn777Lys) c.2451C>A (p.Asn817Lys) c.2705C>A c.1947C>A (p.Asn649Lys) c.2328C>A (p.Asn776Lys) c.1917C>A (p.Asn639Lys) c.2513C>A (p.Thr838Lys) n.108+1920C>A c.2373C>A (p.Asn791Lys) c.2070C>A (p.Asn690Lys) n.2461C>A n.2785C>A n.2428C>A
19	g.11129574C>G	CA404098912	LDLR	c.2709C>G (p.Asn903Lys) c.520C>G (n.520C>G) c.2331C>G (p.Asn777Lys) c.2451C>G (p.Asn817Lys) c.2705C>G c.1947C>G (p.Asn649Lys) c.2328C>G (p.Asn776Lys) c.1917C>G (p.Asn639Lys) c.2513C>G (p.Thr838Arg) n.108+1920C>G c.2373C>G (p.Asn791Lys) c.2070C>G (p.Asn690Lys) n.2461C>G n.2785C>G n.2428C>G
19	g.11129574C>T	CA404098908	LDLR	c.2709C>T (p.Asn903=) c.520C>T (n.520C>T) c.2331C>T (p.Asn777=) c.2451C>T (p.Asn817=) c.2705C>T c.1947C>T (p.Asn649=) c.2328C>T (p.Asn776=) c.1917C>T (p.Asn639=) c.2513C>T (p.Thr838Ile) n.108+1920C>T c.2373C>T (p.Asn791=) c.2070C>T (p.Asn690=) n.2461C>T n.2785C>T n.2428C>T
19	g.11129581_11129589del	CA10585868	LDLR	c.2716_2724del (p.Ser906_Asn908del) c.527_535del (n.527_535del) c.2338_2346del (p.Ser780_Asn782del) c.2458_2466del (p.Ser820_Asn822del) c.2712_2720del c.1954_1962del (p.Ser652_Asn654del) c.2335_2343del (p.Ser779_Asn781del) c.1924_1932del (p.Ser642_Asn644del) c.2520_2528del (p.Ala841_Thr843del) n.108+1927_108+1935del c.2380_2388del (p.Ser794_Asn796del) c.2077_2085del (p.Ser693_Asn695del) n.2792_2800del n.2435_2443del	ClinVar dbSNP
19	g.11129575A>C	CA404098915	LDLR	c.2710A>C (p.Ile904Leu) c.521A>C (n.521A>C) c.2332A>C (p.Ile778Leu) c.2452A>C (p.Ile818Leu) c.2706A>C c.1948A>C (p.Ile650Leu) c.2329A>C (p.Ile777Leu) c.1918A>C (p.Ile640Leu) c.2514A>C (p.Thr838=) n.108+1921A>C c.2374A>C (p.Ile792Leu) c.2071A>C (p.Ile691Leu) n.2462A>C n.2786A>C n.2429A>C
19	g.11129575A>G	CA404098928	LDLR	c.2710A>G (p.Ile904Val) c.521A>G (n.521A>G) c.2332A>G (p.Ile778Val) c.2452A>G (p.Ile818Val) c.2706A>G c.1948A>G (p.Ile650Val) c.2329A>G (p.Ile777Val) c.1918A>G (p.Ile640Val) c.2514A>G (p.Thr838=) n.108+1921A>G c.2374A>G (p.Ile792Val) c.2071A>G (p.Ile691Val) n.2462A>G n.2786A>G n.2429A>G	ClinVar dbSNP
19	g.11129575A>T	CA404098930	LDLR	c.2710A>T (p.Ile904Phe) c.521A>T (n.521A>T) c.2332A>T (p.Ile778Phe) c.2452A>T (p.Ile818Phe) c.2706A>T c.1948A>T (p.Ile650Phe) c.2329A>T (p.Ile777Phe) c.1918A>T (p.Ile640Phe) c.2514A>T (p.Thr838=) n.108+1921A>T c.2374A>T (p.Ile792Phe) c.2071A>T (p.Ile691Phe) n.2462A>T n.2786A>T n.2429A>T
19	g.11129576T>A	CA404098932	LDLR	c.2711T>A (p.Ile904Asn) c.522T>A (n.522T>A) c.2333T>A (p.Ile778Asn) c.2453T>A (p.Ile818Asn) c.2707T>A c.1949T>A (p.Ile650Asn) c.2330T>A (p.Ile777Asn) c.1919T>A (p.Ile640Asn) c.2515T>A (p.Ser839Thr) n.108+1922T>A c.2375T>A (p.Ile792Asn) c.2072T>A (p.Ile691Asn) n.2787T>A n.2430T>A
19	g.11129576T>C	CA404098935	LDLR	c.2711T>C (p.Ile904Thr) c.522T>C (n.522T>C) c.2333T>C (p.Ile778Thr) c.2453T>C (p.Ile818Thr) c.2707T>C c.1949T>C (p.Ile650Thr) c.2330T>C (p.Ile777Thr) c.1919T>C (p.Ile640Thr) c.2515T>C (p.Ser839Pro) n.108+1922T>C c.2375T>C (p.Ile792Thr) c.2072T>C (p.Ile691Thr) n.2787T>C n.2430T>C
19	g.11129576T>G	CA404098937	LDLR	c.2711T>G (p.Ile904Ser) c.522T>G (n.522T>G) c.2333T>G (p.Ile778Ser) c.2453T>G (p.Ile818Ser) c.2707T>G c.1949T>G (p.Ile650Ser) c.2330T>G (p.Ile777Ser) c.1919T>G (p.Ile640Ser) c.2515T>G (p.Ser839Ala) n.108+1922T>G c.2375T>G (p.Ile792Ser) c.2072T>G (p.Ile691Ser) n.2787T>G n.2430T>G
19	g.11129577C>A	CA404098941	LDLR	c.2712C>A (p.Ile904=) c.523C>A (n.523C>A) c.2334C>A (p.Ile778=) c.2454C>A (p.Ile818=) c.2708C>A c.1950C>A (p.Ile650=) c.2331C>A (p.Ile777=) c.1920C>A (p.Ile640=) c.2516C>A (p.Ser839Ter) n.108+1923C>A c.2376C>A (p.Ile792=) c.2073C>A (p.Ile691=) n.2788C>A n.2431C>A	dbSNP
19	g.11129577C=	CA2322780287	LDLR	c.2712C= (p.Ile904=) c.523C= (n.523C=) c.2334C= (p.Ile778=) c.2454C= (p.Ile818=) c.2708C= c.1950C= (p.Ile650=) c.2331C= (p.Ile777=) c.1920C= (p.Ile640=) c.2516C= (p.Ser839=) n.108+1923C= c.2376C= (p.Ile792=) c.2073C= (p.Ile691=) n.2788C= n.2431C=
19	g.11129577C>G	CA404098943	LDLR	c.2712C>G (p.Ile904Met) c.523C>G (n.523C>G) c.2334C>G (p.Ile778Met) c.2454C>G (p.Ile818Met) c.2708C>G c.1950C>G (p.Ile650Met) c.2331C>G (p.Ile777Met) c.1920C>G (p.Ile640Met) c.2516C>G (p.Ser839Ter) n.108+1923C>G c.2376C>G (p.Ile792Met) c.2073C>G (p.Ile691Met) n.2788C>G n.2431C>G	gnomAD v4 COSMIC
19	g.11129577C>T	CA404098954	LDLR	c.2712C>T (p.Ile904=) c.523C>T (n.523C>T) c.2334C>T (p.Ile778=) c.2454C>T (p.Ile818=) c.2708C>T c.1950C>T (p.Ile650=) c.2331C>T (p.Ile777=) c.1920C>T (p.Ile640=) c.2516C>T (p.Ser839Leu) n.108+1923C>T c.2376C>T (p.Ile792=) c.2073C>T (p.Ile691=) n.2788C>T n.2431C>T
19	g.11129578A>C	CA404098965	LDLR	c.2713A>C (p.Asn905His) c.524A>C (n.524A>C) c.2335A>C (p.Asn779His) c.2455A>C (p.Asn819His) c.2709A>C c.1951A>C (p.Asn651His) c.2332A>C (p.Asn778His) c.1921A>C (p.Asn641His) c.2517A>C (p.Ser839=) n.108+1924A>C c.2377A>C (p.Asn793His) c.2074A>C (p.Asn692His) n.2789A>C n.2432A>C
19	g.11129578A>G	CA404098958	LDLR	c.2713A>G (p.Asn905Asp) c.524A>G (n.524A>G) c.2335A>G (p.Asn779Asp) c.2455A>G (p.Asn819Asp) c.2709A>G c.1951A>G (p.Asn651Asp) c.2332A>G (p.Asn778Asp) c.1921A>G (p.Asn641Asp) c.2517A>G (p.Ser839=) n.108+1924A>G c.2377A>G (p.Asn793Asp) c.2074A>G (p.Asn692Asp) n.2789A>G n.2432A>G
19	g.11129578A>T	CA404098960	LDLR	c.2713A>T (p.Asn905Tyr) c.524A>T (n.524A>T) c.2335A>T (p.Asn779Tyr) c.2455A>T (p.Asn819Tyr) c.2709A>T c.1951A>T (p.Asn651Tyr) c.2332A>T (p.Asn778Tyr) c.1921A>T (p.Asn641Tyr) c.2517A>T (p.Ser839=) n.108+1924A>T c.2377A>T (p.Asn793Tyr) c.2074A>T (p.Asn692Tyr) n.2789A>T n.2432A>T
19	g.11129579A>C	CA404098975	LDLR	c.2714A>C (p.Asn905Thr) c.525A>C (n.525A>C) c.2336A>C (p.Asn779Thr) c.2456A>C (p.Asn819Thr) c.2710A>C c.1952A>C (p.Asn651Thr) c.2333A>C (p.Asn778Thr) c.1922A>C (p.Asn641Thr) c.2518A>C (p.Thr840Pro) n.108+1925A>C c.2378A>C (p.Asn793Thr) c.2075A>C (p.Asn692Thr) n.2790A>C n.2433A>C
19	g.11129579A>G	CA404098977	LDLR	c.2714A>G (p.Asn905Ser) c.525A>G (n.525A>G) c.2336A>G (p.Asn779Ser) c.2456A>G (p.Asn819Ser) c.2710A>G c.1952A>G (p.Asn651Ser) c.2333A>G (p.Asn778Ser) c.1922A>G (p.Asn641Ser) c.2518A>G (p.Thr840Ala) n.108+1925A>G c.2378A>G (p.Asn793Ser) c.2075A>G (p.Asn692Ser) n.2790A>G n.2433A>G	ClinVar gnomAD v4
19	g.11129579A>T	CA404098979	LDLR	c.2714A>T (p.Asn905Ile) c.525A>T (n.525A>T) c.2336A>T (p.Asn779Ile) c.2456A>T (p.Asn819Ile) c.2710A>T c.1952A>T (p.Asn651Ile) c.2333A>T (p.Asn778Ile) c.1922A>T (p.Asn641Ile) c.2518A>T (p.Thr840Ser) n.108+1925A>T c.2378A>T (p.Asn793Ile) c.2075A>T (p.Asn692Ile) n.2790A>T n.2433A>T
19	g.11129580C>A	CA404098982	LDLR	c.2715C>A (p.Asn905Lys) c.526C>A (n.526C>A) c.2337C>A (p.Asn779Lys) c.2457C>A (p.Asn819Lys) c.2711C>A c.1953C>A (p.Asn651Lys) c.2334C>A (p.Asn778Lys) c.1923C>A (p.Asn641Lys) c.2519C>A (p.Thr840Lys) n.108+1926C>A c.2379C>A (p.Asn793Lys) c.2076C>A (p.Asn692Lys) n.2791C>A n.2434C>A
19	g.11129580C=	CA2322780288	LDLR	c.2715C= (p.Asn905=) c.526C= (n.526C=) c.2337C= (p.Asn779=) c.2457C= (p.Asn819=) c.2711C= c.1953C= (p.Asn651=) c.2334C= (p.Asn778=) c.1923C= (p.Asn641=) c.2519C= (p.Thr840=) n.108+1926C= c.2379C= (p.Asn793=) c.2076C= (p.Asn692=) n.2791C= n.2434C=
19	g.11129580C>G	CA404098985	LDLR	c.2715C>G (p.Asn905Lys) c.526C>G (n.526C>G) c.2337C>G (p.Asn779Lys) c.2457C>G (p.Asn819Lys) c.2711C>G c.1953C>G (p.Asn651Lys) c.2334C>G (p.Asn778Lys) c.1923C>G (p.Asn641Lys) c.2519C>G (p.Thr840Arg) n.108+1926C>G c.2379C>G (p.Asn793Lys) c.2076C>G (p.Asn692Lys) n.2791C>G n.2434C>G
19	g.11129580C>T	CA040790	LDLR	c.2715C>T (p.Asn905=) c.526C>T (n.526C>T) c.2337C>T (p.Asn779=) c.2457C>T (p.Asn819=) c.2711C>T c.1953C>T (p.Asn651=) c.2334C>T (p.Asn778=) c.1923C>T (p.Asn641=) c.2519C>T (p.Thr840Ile) n.108+1926C>T c.2379C>T (p.Asn793=) c.2076C>T (p.Asn692=) n.2791C>T n.2434C>T	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129582_11129587del	CA2582476514	LDLR	c.2717_2722del (p.Ser906_Ile907del) c.528_533del (n.528_533del) c.2339_2344del (p.Ser780_Ile781del) c.2459_2464del (p.Ser820_Ile821del) c.2713_2718del c.1955_1960del (p.Ser652_Ile653del) c.2336_2341del (p.Ser779_Ile780del) c.1925_1930del (p.Ser642_Ile643del) c.2521_2526del (p.Ala841_Ser842del) n.108+1928_108+1933del c.2381_2386del (p.Ser794_Ile795del) c.2078_2083del (p.Ser693_Ile694del) n.2793_2798del n.2436_2441del	gnomAD v4
19	g.11129581A=	CA2322780289	LDLR	c.2716A= (p.Ser906=) c.527A= (n.527A=) c.2338A= (p.Ser780=) c.2458A= (p.Ser820=) c.2712A= c.1954A= (p.Ser652=) c.2335A= (p.Ser779=) c.1924A= (p.Ser642=) c.2520A= (p.Thr840=) n.108+1927A= c.2380A= (p.Ser794=) c.2077A= (p.Ser693=) n.2792A= n.2435A=
19	g.11129581A>C	CA404099003	LDLR	c.2716A>C (p.Ser906Arg) c.527A>C (n.527A>C) c.2338A>C (p.Ser780Arg) c.2458A>C (p.Ser820Arg) c.2712A>C c.1954A>C (p.Ser652Arg) c.2335A>C (p.Ser779Arg) c.1924A>C (p.Ser642Arg) c.2520A>C (p.Thr840=) n.108+1927A>C c.2380A>C (p.Ser794Arg) c.2077A>C (p.Ser693Arg) n.2792A>C n.2435A>C
19	g.11129581A>G	CA404098998	LDLR	c.2716A>G (p.Ser906Gly) c.527A>G (n.527A>G) c.2338A>G (p.Ser780Gly) c.2458A>G (p.Ser820Gly) c.2712A>G c.1954A>G (p.Ser652Gly) c.2335A>G (p.Ser779Gly) c.1924A>G (p.Ser642Gly) c.2520A>G (p.Thr840=) n.108+1927A>G c.2380A>G (p.Ser794Gly) c.2077A>G (p.Ser693Gly) n.2792A>G n.2435A>G	dbSNP gnomAD v3 gnomAD v4
19	g.11129581A>T	CA404098994	LDLR	c.2716A>T (p.Ser906Cys) c.527A>T (n.527A>T) c.2338A>T (p.Ser780Cys) c.2458A>T (p.Ser820Cys) c.2712A>T c.1954A>T (p.Ser652Cys) c.2335A>T (p.Ser779Cys) c.1924A>T (p.Ser642Cys) c.2520A>T (p.Thr840=) n.108+1927A>T c.2380A>T (p.Ser794Cys) c.2077A>T (p.Ser693Cys) n.2792A>T n.2435A>T
19	g.11129582_11129583insAAAG	CA2830773961	LDLR	c.2717_2718insAAAG (p.Ser906ArgfsTer6) c.528_529insAAAG (n.528_529insAAAG) c.2339_2340insAAAG (p.Ser780ArgfsTer6) c.2459_2460insAAAG (p.Ser820ArgfsTer6) c.2713_2714insAAAG c.1955_1956insAAAG (p.Ser652ArgfsTer6) c.2336_2337insAAAG (p.Ser779ArgfsTer6) c.1925_1926insAAAG (p.Ser642ArgfsTer6) c.2521_2522insAAAG (p.Ala841GlufsTer?) n.108+1928_108+1929insAAAG c.2381_2382insAAAG (p.Ser794ArgfsTer6) c.2078_2079insAAAG (p.Ser693ArgfsTer6) n.2793_2794insAAAG n.2436_2437insAAAG
19	g.11129582G>A	CA404099008	LDLR	c.2717G>A (p.Ser906Asn) c.528G>A (n.528G>A) c.2339G>A (p.Ser780Asn) c.2459G>A (p.Ser820Asn) c.2713G>A c.1955G>A (p.Ser652Asn) c.2336G>A (p.Ser779Asn) c.1925G>A (p.Ser642Asn) c.2521G>A (p.Ala841Thr) n.108+1928G>A c.2381G>A (p.Ser794Asn) c.2078G>A (p.Ser693Asn) n.2793G>A n.2436G>A	gnomAD v4
19	g.11129582G>C	CA404099011	LDLR	c.2717G>C (p.Ser906Thr) c.528G>C (n.528G>C) c.2339G>C (p.Ser780Thr) c.2459G>C (p.Ser820Thr) c.2713G>C c.1955G>C (p.Ser652Thr) c.2336G>C (p.Ser779Thr) c.1925G>C (p.Ser642Thr) c.2521G>C (p.Ala841Pro) n.108+1928G>C c.2381G>C (p.Ser794Thr) c.2078G>C (p.Ser693Thr) n.2793G>C n.2436G>C
19	g.11129582G>T	CA404099015	LDLR	c.2717G>T (p.Ser906Ile) c.528G>T (n.528G>T) c.2339G>T (p.Ser780Ile) c.2459G>T (p.Ser820Ile) c.2713G>T c.1955G>T (p.Ser652Ile) c.2336G>T (p.Ser779Ile) c.1925G>T (p.Ser642Ile) c.2521G>T (p.Ala841Ser) n.108+1928G>T c.2381G>T (p.Ser794Ile) c.2078G>T (p.Ser693Ile) n.2793G>T n.2436G>T
19	g.11129583C>A	CA404099019	LDLR	c.2718C>A (p.Ser906Arg) c.529C>A (n.529C>A) c.2340C>A (p.Ser780Arg) c.2460C>A (p.Ser820Arg) c.2714C>A c.1956C>A (p.Ser652Arg) c.2337C>A (p.Ser779Arg) c.1926C>A (p.Ser642Arg) c.2522C>A (p.Ala841Glu) n.108+1929C>A c.2382C>A (p.Ser794Arg) c.2079C>A (p.Ser693Arg) n.2794C>A n.2437C>A
19	g.11129583C>G	CA404099023	LDLR	c.2718C>G (p.Ser906Arg) c.529C>G (n.529C>G) c.2340C>G (p.Ser780Arg) c.2460C>G (p.Ser820Arg) c.2714C>G c.1956C>G (p.Ser652Arg) c.2337C>G (p.Ser779Arg) c.1926C>G (p.Ser642Arg) c.2522C>G (p.Ala841Gly) n.108+1929C>G c.2382C>G (p.Ser794Arg) c.2079C>G (p.Ser693Arg) n.2794C>G n.2437C>G
19	g.11129583C>T	CA404099025	LDLR	c.2718C>T (p.Ser906=) c.529C>T (n.529C>T) c.2340C>T (p.Ser780=) c.2460C>T (p.Ser820=) c.2714C>T c.1956C>T (p.Ser652=) c.2337C>T (p.Ser779=) c.1926C>T (p.Ser642=) c.2522C>T (p.Ala841Val) n.108+1929C>T c.2382C>T (p.Ser794=) c.2079C>T (p.Ser693=) n.2794C>T n.2437C>T
19	g.11129584A>C	CA404099028	LDLR	c.2719A>C (p.Ile907Leu) c.530A>C (n.530A>C) c.2341A>C (p.Ile781Leu) c.2461A>C (p.Ile821Leu) c.2715A>C c.1957A>C (p.Ile653Leu) c.2338A>C (p.Ile780Leu) c.1927A>C (p.Ile643Leu) c.2523A>C (p.Ala841=) n.108+1930A>C c.2383A>C (p.Ile795Leu) c.2080A>C (p.Ile694Leu) n.2795A>C n.2438A>C
19	g.11129584A>G	CA404099035	LDLR	c.2719A>G (p.Ile907Val) c.530A>G (n.530A>G) c.2341A>G (p.Ile781Val) c.2461A>G (p.Ile821Val) c.2715A>G c.1957A>G (p.Ile653Val) c.2338A>G (p.Ile780Val) c.1927A>G (p.Ile643Val) c.2523A>G (p.Ala841=) n.108+1930A>G c.2383A>G (p.Ile795Val) c.2080A>G (p.Ile694Val) n.2795A>G n.2438A>G
19	g.11129584A>T	CA404099030	LDLR	c.2719A>T (p.Ile907Phe) c.530A>T (n.530A>T) c.2341A>T (p.Ile781Phe) c.2461A>T (p.Ile821Phe) c.2715A>T c.1957A>T (p.Ile653Phe) c.2338A>T (p.Ile780Phe) c.1927A>T (p.Ile643Phe) c.2523A>T (p.Ala841=) n.108+1930A>T c.2383A>T (p.Ile795Phe) c.2080A>T (p.Ile694Phe) n.2795A>T n.2438A>T
19	g.11129585T>A	CA404099039	LDLR	c.2720T>A (p.Ile907Asn) c.531T>A (n.531T>A) c.2342T>A (p.Ile781Asn) c.2462T>A (p.Ile821Asn) c.2716T>A c.1958T>A (p.Ile653Asn) c.2339T>A (p.Ile780Asn) c.1928T>A (p.Ile643Asn) c.2524T>A (p.Ser842Thr) n.108+1931T>A c.2384T>A (p.Ile795Asn) c.2081T>A (p.Ile694Asn) n.2796T>A n.2439T>A
19	g.11129585T>C	CA404099043	LDLR	c.2720T>C (p.Ile907Thr) c.531T>C (n.531T>C) c.2342T>C (p.Ile781Thr) c.2462T>C (p.Ile821Thr) c.2716T>C c.1958T>C (p.Ile653Thr) c.2339T>C (p.Ile780Thr) c.1928T>C (p.Ile643Thr) c.2524T>C (p.Ser842Pro) n.108+1931T>C c.2384T>C (p.Ile795Thr) c.2081T>C (p.Ile694Thr) n.2796T>C n.2439T>C
19	g.11129585T>G	CA404099047	LDLR	c.2720T>G (p.Ile907Ser) c.531T>G (n.531T>G) c.2342T>G (p.Ile781Ser) c.2462T>G (p.Ile821Ser) c.2716T>G c.1958T>G (p.Ile653Ser) c.2339T>G (p.Ile780Ser) c.1928T>G (p.Ile643Ser) c.2524T>G (p.Ser842Ala) n.108+1931T>G c.2384T>G (p.Ile795Ser) c.2081T>G (p.Ile694Ser) n.2796T>G n.2439T>G
19	g.11129586C>A	CA404099053	LDLR	c.2721C>A (p.Ile907=) c.532C>A (n.532C>A) c.2343C>A (p.Ile781=) c.2463C>A (p.Ile821=) c.2717C>A c.1959C>A (p.Ile653=) c.2340C>A (p.Ile780=) c.1929C>A (p.Ile643=) c.2525C>A (p.Ser842Ter) n.108+1932C>A c.2385C>A (p.Ile795=) c.2082C>A (p.Ile694=) n.2797C>A n.2440C>A
19	g.11129586C>G	CA404099056	LDLR	c.2721C>G (p.Ile907Met) c.532C>G (n.532C>G) c.2343C>G (p.Ile781Met) c.2463C>G (p.Ile821Met) c.2717C>G c.1959C>G (p.Ile653Met) c.2340C>G (p.Ile780Met) c.1929C>G (p.Ile643Met) c.2525C>G (p.Ser842Ter) n.108+1932C>G c.2385C>G (p.Ile795Met) c.2082C>G (p.Ile694Met) n.2797C>G n.2440C>G
19	g.11129586C>T	CA404099059	LDLR	c.2721C>T (p.Ile907=) c.532C>T (n.532C>T) c.2343C>T (p.Ile781=) c.2463C>T (p.Ile821=) c.2717C>T c.1959C>T (p.Ile653=) c.2340C>T (p.Ile780=) c.1929C>T (p.Ile643=) c.2525C>T (p.Ser842Leu) n.108+1932C>T c.2385C>T (p.Ile795=) c.2082C>T (p.Ile694=) n.2797C>T n.2440C>T
19	g.11129587A>C	CA404099069	LDLR	c.2722A>C (p.Asn908His) c.533A>C (n.533A>C) c.2344A>C (p.Asn782His) c.2464A>C (p.Asn822His) c.2718A>C c.1960A>C (p.Asn654His) c.2341A>C (p.Asn781His) c.1930A>C (p.Asn644His) c.2526A>C (p.Ser842=) n.108+1933A>C c.2386A>C (p.Asn796His) c.2083A>C (p.Asn695His) n.2798A>C n.2441A>C
19	g.11129587A>G	CA404099073	LDLR	c.2722A>G (p.Asn908Asp) c.533A>G (n.533A>G) c.2344A>G (p.Asn782Asp) c.2464A>G (p.Asn822Asp) c.2718A>G c.1960A>G (p.Asn654Asp) c.2341A>G (p.Asn781Asp) c.1930A>G (p.Asn644Asp) c.2526A>G (p.Ser842=) n.108+1933A>G c.2386A>G (p.Asn796Asp) c.2083A>G (p.Asn695Asp) n.2798A>G n.2441A>G
19	g.11129587A>T	CA404099077	LDLR	c.2722A>T (p.Asn908Tyr) c.533A>T (n.533A>T) c.2344A>T (p.Asn782Tyr) c.2464A>T (p.Asn822Tyr) c.2718A>T c.1960A>T (p.Asn654Tyr) c.2341A>T (p.Asn781Tyr) c.1930A>T (p.Asn644Tyr) c.2526A>T (p.Ser842=) n.108+1933A>T c.2386A>T (p.Asn796Tyr) c.2083A>T (p.Asn695Tyr) n.2798A>T n.2441A>T
19	g.11129588A>C	CA404099080	LDLR	c.2723A>C (p.Asn908Thr) c.534A>C (n.534A>C) c.2345A>C (p.Asn782Thr) c.2465A>C (p.Asn822Thr) c.2719A>C c.1961A>C (p.Asn654Thr) c.2342A>C (p.Asn781Thr) c.1931A>C (p.Asn644Thr) c.2527A>C (p.Thr843Pro) n.108+1934A>C c.2387A>C (p.Asn796Thr) c.2084A>C (p.Asn695Thr) n.2799A>C n.2442A>C
19	g.11129588A>G	CA404099084	LDLR	c.2723A>G (p.Asn908Ser) c.534A>G (n.534A>G) c.2345A>G (p.Asn782Ser) c.2465A>G (p.Asn822Ser) c.2719A>G c.1961A>G (p.Asn654Ser) c.2342A>G (p.Asn781Ser) c.1931A>G (p.Asn644Ser) c.2527A>G (p.Thr843Ala) n.108+1934A>G c.2387A>G (p.Asn796Ser) c.2084A>G (p.Asn695Ser) n.2799A>G n.2442A>G	ClinVar
19	g.11129588A>T	CA404099086	LDLR	c.2723A>T (p.Asn908Ile) c.534A>T (n.534A>T) c.2345A>T (p.Asn782Ile) c.2465A>T (p.Asn822Ile) c.2719A>T c.1961A>T (p.Asn654Ile) c.2342A>T (p.Asn781Ile) c.1931A>T (p.Asn644Ile) c.2527A>T (p.Thr843Ser) n.108+1934A>T c.2387A>T (p.Asn796Ile) c.2084A>T (p.Asn695Ile) n.2799A>T n.2442A>T
19	g.11129589C>A	CA404099092	LDLR	c.2724C>A (p.Asn908Lys) c.535C>A (n.535C>A) c.2346C>A (p.Asn782Lys) c.2466C>A (p.Asn822Lys) c.2720C>A c.1962C>A (p.Asn654Lys) c.2343C>A (p.Asn781Lys) c.1932C>A (p.Asn644Lys) c.2528C>A (p.Thr843Asn) n.108+1935C>A c.2388C>A (p.Asn796Lys) c.2085C>A (p.Asn695Lys) n.2800C>A n.2443C>A
19	g.11129589C>G	CA404099107	LDLR	c.2724C>G (p.Asn908Lys) c.535C>G (n.535C>G) c.2346C>G (p.Asn782Lys) c.2466C>G (p.Asn822Lys) c.2720C>G c.1962C>G (p.Asn654Lys) c.2343C>G (p.Asn781Lys) c.1932C>G (p.Asn644Lys) c.2528C>G (p.Thr843Ser) n.108+1935C>G c.2388C>G (p.Asn796Lys) c.2085C>G (p.Asn695Lys) n.2800C>G n.2443C>G	gnomAD v4
19	g.11129589C>T	CA404099094	LDLR	c.2724C>T (p.Asn908=) c.535C>T (n.535C>T) c.2346C>T (p.Asn782=) c.2466C>T (p.Asn822=) c.2720C>T c.1962C>T (p.Asn654=) c.2343C>T (p.Asn781=) c.1932C>T (p.Asn644=) c.2528C>T (p.Thr843Ile) n.108+1935C>T c.2388C>T (p.Asn796=) c.2085C>T (p.Asn695=) n.2800C>T n.2443C>T	ClinVar gnomAD v4
19	g.11129590T>A	CA404099112	LDLR	c.2725T>A (p.Phe909Ile) c.536T>A (n.536T>A) c.2347T>A (p.Phe783Ile) c.2467T>A (p.Phe823Ile) c.2721T>A c.1963T>A (p.Phe655Ile) c.2344T>A (p.Phe782Ile) c.1933T>A (p.Phe645Ile) c.2529T>A (p.Thr843=) n.108+1936T>A c.2389T>A (p.Phe797Ile) c.2086T>A (p.Phe696Ile) n.2801T>A n.2444T>A
19	g.11129590T>C	CA404099114	LDLR	c.2725T>C (p.Phe909Leu) c.536T>C (n.536T>C) c.2347T>C (p.Phe783Leu) c.2467T>C (p.Phe823Leu) c.2721T>C c.1963T>C (p.Phe655Leu) c.2344T>C (p.Phe782Leu) c.1933T>C (p.Phe645Leu) c.2529T>C (p.Thr843=) n.108+1936T>C c.2389T>C (p.Phe797Leu) c.2086T>C (p.Phe696Leu) n.2801T>C n.2444T>C
19	g.11129590T>G	CA404099123	LDLR	c.2725T>G (p.Phe909Val) c.536T>G (n.536T>G) c.2347T>G (p.Phe783Val) c.2467T>G (p.Phe823Val) c.2721T>G c.1963T>G (p.Phe655Val) c.2344T>G (p.Phe782Val) c.1933T>G (p.Phe645Val) c.2529T>G (p.Thr843=) n.108+1936T>G c.2389T>G (p.Phe797Val) c.2086T>G (p.Phe696Val) n.2801T>G n.2444T>G
19	g.11129591T>A	CA404099127	LDLR	c.2726T>A (p.Phe909Tyr) c.537T>A (n.537T>A) c.2348T>A (p.Phe783Tyr) c.2468T>A (p.Phe823Tyr) c.2722T>A c.1964T>A (p.Phe655Tyr) c.2345T>A (p.Phe782Tyr) c.1934T>A (p.Phe645Tyr) c.2530T>A (p.Leu844Met) n.108+1937T>A c.2390T>A (p.Phe797Tyr) c.2087T>A (p.Phe696Tyr) n.2802T>A n.2445T>A
19	g.11129591T>C	CA404099130	LDLR	c.2726T>C (p.Phe909Ser) c.537T>C (n.537T>C) c.2348T>C (p.Phe783Ser) c.2468T>C (p.Phe823Ser) c.2722T>C c.1964T>C (p.Phe655Ser) c.2345T>C (p.Phe782Ser) c.1934T>C (p.Phe645Ser) c.2530T>C (p.Leu844=) n.108+1937T>C c.2390T>C (p.Phe797Ser) c.2087T>C (p.Phe696Ser) n.2802T>C n.2445T>C	gnomAD v4
19	g.11129591T>G	CA404099132	LDLR	c.2726T>G (p.Phe909Cys) c.537T>G (n.537T>G) c.2348T>G (p.Phe783Cys) c.2468T>G (p.Phe823Cys) c.2722T>G c.1964T>G (p.Phe655Cys) c.2345T>G (p.Phe782Cys) c.1934T>G (p.Phe645Cys) c.2530T>G (p.Leu844Val) n.108+1937T>G c.2390T>G (p.Phe797Cys) c.2087T>G (p.Phe696Cys) n.2802T>G n.2445T>G
19	g.11129592T>A	CA404099135	LDLR	c.2727T>A (p.Phe909Leu) c.538T>A (n.538T>A) c.2349T>A (p.Phe783Leu) c.2469T>A (p.Phe823Leu) c.2723T>A c.1965T>A (p.Phe655Leu) c.2346T>A (p.Phe782Leu) c.1935T>A (p.Phe645Leu) c.2531T>A (p.Leu844Ter) n.108+1938T>A c.2391T>A (p.Phe797Leu) c.2088T>A (p.Phe696Leu) n.2803T>A n.2446T>A
19	g.11129592T>C	CA305309120	LDLR	c.2727T>C (p.Phe909=) c.538T>C (n.538T>C) c.2349T>C (p.Phe783=) c.2469T>C (p.Phe823=) c.2723T>C c.1965T>C (p.Phe655=) c.2346T>C (p.Phe782=) c.1935T>C (p.Phe645=) c.2531T>C (p.Leu844Ser) n.108+1938T>C c.2391T>C (p.Phe797=) c.2088T>C (p.Phe696=) n.2803T>C n.2446T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129592T>G	CA404099141	LDLR	c.2727T>G (p.Phe909Leu) c.538T>G (n.538T>G) c.2349T>G (p.Phe783Leu) c.2469T>G (p.Phe823Leu) c.2723T>G c.1965T>G (p.Phe655Leu) c.2346T>G (p.Phe782Leu) c.1935T>G (p.Phe645Leu) c.2531T>G (p.Leu844Trp) n.108+1938T>G c.2391T>G (p.Phe797Leu) c.2088T>G (p.Phe696Leu) n.2803T>G n.2446T>G
19	g.11129592T=	CA2322780290	LDLR	c.2727T= (p.Phe909=) c.538T= (n.538T=) c.2349T= (p.Phe783=) c.2469T= (p.Phe823=) c.2723T= c.1965T= (p.Phe655=) c.2346T= (p.Phe782=) c.1935T= (p.Phe645=) c.2531T= (p.Leu844=) n.108+1938T= c.2391T= (p.Phe797=) c.2088T= (p.Phe696=) n.2803T= n.2446T=
19	g.11129593G>A	CA404099148	LDLR	c.2728G>A (p.Asp910Asn) c.539G>A (n.539G>A) c.2350G>A (p.Asp784Asn) c.2470G>A (p.Asp824Asn) c.2724G>A c.1966G>A (p.Asp656Asn) c.2347G>A (p.Asp783Asn) c.1936G>A (p.Asp646Asn) c.2532G>A (p.Leu844=) n.108+1939G>A c.2392G>A (p.Asp798Asn) c.2089G>A (p.Asp697Asn) n.2804G>A n.2447G>A
19	g.11129593G>C	CA404099152	LDLR	c.2728G>C (p.Asp910His) c.539G>C (n.539G>C) c.2350G>C (p.Asp784His) c.2470G>C (p.Asp824His) c.2724G>C c.1966G>C (p.Asp656His) c.2347G>C (p.Asp783His) c.1936G>C (p.Asp646His) c.2532G>C (p.Leu844Phe) n.108+1939G>C c.2392G>C (p.Asp798His) c.2089G>C (p.Asp697His) n.2804G>C n.2447G>C	dbSNP
19	g.11129593G=	CA2322780291	LDLR	c.2728G= (p.Asp910=) c.539G= (n.539G=) c.2350G= (p.Asp784=) c.2470G= (p.Asp824=) c.2724G= c.1966G= (p.Asp656=) c.2347G= (p.Asp783=) c.1936G= (p.Asp646=) c.2532G= (p.Leu844=) n.108+1939G= c.2392G= (p.Asp798=) c.2089G= (p.Asp697=) n.2804G= n.2447G=
19	g.11129593G>T	CA404099154	LDLR	c.2728G>T (p.Asp910Tyr) c.539G>T (n.539G>T) c.2350G>T (p.Asp784Tyr) c.2470G>T (p.Asp824Tyr) c.2724G>T c.1966G>T (p.Asp656Tyr) c.2347G>T (p.Asp783Tyr) c.1936G>T (p.Asp646Tyr) c.2532G>T (p.Leu844Phe) n.108+1939G>T c.2392G>T (p.Asp798Tyr) c.2089G>T (p.Asp697Tyr) n.2804G>T n.2447G>T
19	g.11129594A>C	CA404099162	LDLR	c.2729A>C (p.Asp910Ala) c.540A>C (n.540A>C) c.2351A>C (p.Asp784Ala) c.2471A>C (p.Asp824Ala) c.2725A>C c.1967A>C (p.Asp656Ala) c.2348A>C (p.Asp783Ala) c.1937A>C (p.Asp646Ala) c.2533A>C (p.Thr845Pro) n.108+1940A>C c.2393A>C (p.Asp798Ala) c.2090A>C (p.Asp697Ala) n.2805A>C n.2448A>C
19	g.11129594A>G	CA404099163	LDLR	c.2729A>G (p.Asp910Gly) c.540A>G (n.540A>G) c.2351A>G (p.Asp784Gly) c.2471A>G (p.Asp824Gly) c.2725A>G c.1967A>G (p.Asp656Gly) c.2348A>G (p.Asp783Gly) c.1937A>G (p.Asp646Gly) c.2533A>G (p.Thr845Ala) n.108+1940A>G c.2393A>G (p.Asp798Gly) c.2090A>G (p.Asp697Gly) n.2805A>G n.2448A>G
19	g.11129594A>T	CA404099161	LDLR	c.2729A>T (p.Asp910Val) c.540A>T (n.540A>T) c.2351A>T (p.Asp784Val) c.2471A>T (p.Asp824Val) c.2725A>T c.1967A>T (p.Asp656Val) c.2348A>T (p.Asp783Val) c.1937A>T (p.Asp646Val) c.2533A>T (p.Thr845Ser) n.108+1940A>T c.2393A>T (p.Asp798Val) c.2090A>T (p.Asp697Val) n.2805A>T n.2448A>T
19	g.11129596_11129598del	CA2580613053	LDLR	c.2731_2733del (p.Asn911del) c.542_544del (n.542_544del) c.2353_2355del (p.Asn785del) c.2473_2475del (p.Asn825del) c.2727_2729del c.1969_1971del (p.Asn657del) c.2350_2352del (p.Asn784del) c.1939_1941del (p.Asn647del) c.2535_2537del (p.Thr846del) n.108+1942_108+1944del c.2395_2397del (p.Asn799del) c.2092_2094del (p.Asn698del) n.2807_2809del n.2450_2452del	ClinVar
19	g.11129595C>A	CA404099164	LDLR	c.2730C>A (p.Asp910Glu) c.541C>A (n.541C>A) c.2352C>A (p.Asp784Glu) c.2472C>A (p.Asp824Glu) c.2726C>A c.1968C>A (p.Asp656Glu) c.2349C>A (p.Asp783Glu) c.1938C>A (p.Asp646Glu) c.2534C>A (p.Thr845Lys) n.108+1941C>A c.2394C>A (p.Asp798Glu) c.2091C>A (p.Asp697Glu) n.2806C>A n.2449C>A
19	g.11129595C=	CA2322780292	LDLR	c.2730C= (p.Asp910=) c.541C= (n.541C=) c.2352C= (p.Asp784=) c.2472C= (p.Asp824=) c.2726C= c.1968C= (p.Asp656=) c.2349C= (p.Asp783=) c.1938C= (p.Asp646=) c.2534C= (p.Thr845=) n.108+1941C= c.2394C= (p.Asp798=) c.2091C= (p.Asp697=) n.2806C= n.2449C=
19	g.11129595C>G	CA404099166	LDLR	c.2730C>G (p.Asp910Glu) c.541C>G (n.541C>G) c.2352C>G (p.Asp784Glu) c.2472C>G (p.Asp824Glu) c.2726C>G c.1968C>G (p.Asp656Glu) c.2349C>G (p.Asp783Glu) c.1938C>G (p.Asp646Glu) c.2534C>G (p.Thr845Arg) n.108+1941C>G c.2394C>G (p.Asp798Glu) c.2091C>G (p.Asp697Glu) n.2806C>G n.2449C>G
19	g.11129595C>T	CA404099168	LDLR	c.2730C>T (p.Asp910=) c.541C>T (n.541C>T) c.2352C>T (p.Asp784=) c.2472C>T (p.Asp824=) c.2726C>T c.1968C>T (p.Asp656=) c.2349C>T (p.Asp783=) c.1938C>T (p.Asp646=) c.2534C>T (p.Thr845Ile) n.108+1941C>T c.2394C>T (p.Asp798=) c.2091C>T (p.Asp697=) n.2806C>T n.2449C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129596A=	CA2322780293	LDLR	c.2731A= (p.Asn911=) c.542A= (n.542A=) c.2353A= (p.Asn785=) c.2473A= (p.Asn825=) c.2727A= c.1969A= (p.Asn657=) c.2350A= (p.Asn784=) c.1939A= (p.Asn647=) c.2535A= (p.Thr845=) n.108+1942A= c.2395A= (p.Asn799=) c.2092A= (p.Asn698=) n.2807A= n.2450A=
19	g.11129596A>C	CA404099169	LDLR	c.2731A>C (p.Asn911His) c.542A>C (n.542A>C) c.2353A>C (p.Asn785His) c.2473A>C (p.Asn825His) c.2727A>C c.1969A>C (p.Asn657His) c.2350A>C (p.Asn784His) c.1939A>C (p.Asn647His) c.2535A>C (p.Thr845=) n.108+1942A>C c.2395A>C (p.Asn799His) c.2092A>C (p.Asn698His) n.2807A>C n.2450A>C
19	g.11129596A>G	CA10585869	LDLR	c.2731A>G (p.Asn911Asp) c.542A>G (n.542A>G) c.2353A>G (p.Asn785Asp) c.2473A>G (p.Asn825Asp) c.2727A>G c.1969A>G (p.Asn657Asp) c.2350A>G (p.Asn784Asp) c.1939A>G (p.Asn647Asp) c.2535A>G (p.Thr845=) n.108+1942A>G c.2395A>G (p.Asn799Asp) c.2092A>G (p.Asn698Asp) n.2807A>G n.2450A>G	ClinVar dbSNP
19	g.11129596A>T	CA404099173	LDLR	c.2731A>T (p.Asn911Tyr) c.542A>T (n.542A>T) c.2353A>T (p.Asn785Tyr) c.2473A>T (p.Asn825Tyr) c.2727A>T c.1969A>T (p.Asn657Tyr) c.2350A>T (p.Asn784Tyr) c.1939A>T (p.Asn647Tyr) c.2535A>T (p.Thr845=) n.108+1942A>T c.2395A>T (p.Asn799Tyr) c.2092A>T (p.Asn698Tyr) n.2807A>T n.2450A>T
19	g.11129597A>C	CA404099178	LDLR	c.2732A>C (p.Asn911Thr) c.543A>C (n.543A>C) c.2354A>C (p.Asn785Thr) c.2474A>C (p.Asn825Thr) c.2728A>C c.1970A>C (p.Asn657Thr) c.2351A>C (p.Asn784Thr) c.1940A>C (p.Asn647Thr) c.2536A>C (p.Thr846Pro) n.108+1943A>C c.2396A>C (p.Asn799Thr) c.2093A>C (p.Asn698Thr) n.2808A>C n.2451A>C
19	g.11129597A>G	CA404099182	LDLR	c.2732A>G (p.Asn911Ser) c.543A>G (n.543A>G) c.2354A>G (p.Asn785Ser) c.2474A>G (p.Asn825Ser) c.2728A>G c.1970A>G (p.Asn657Ser) c.2351A>G (p.Asn784Ser) c.1940A>G (p.Asn647Ser) c.2536A>G (p.Thr846Ala) n.108+1943A>G c.2396A>G (p.Asn799Ser) c.2093A>G (p.Asn698Ser) n.2808A>G n.2451A>G
19	g.11129597A>T	CA404099180	LDLR	c.2732A>T (p.Asn911Ile) c.543A>T (n.543A>T) c.2354A>T (p.Asn785Ile) c.2474A>T (p.Asn825Ile) c.2728A>T c.1970A>T (p.Asn657Ile) c.2351A>T (p.Asn784Ile) c.1940A>T (p.Asn647Ile) c.2536A>T (p.Thr846Ser) n.108+1943A>T c.2396A>T (p.Asn799Ile) c.2093A>T (p.Asn698Ile) n.2808A>T n.2451A>T
19	g.11129597_11129598delinsAC	CA2322780294	LDLR	c.2732_2733delinsAC (p.Asn911=) c.543_544delinsAC (n.543_544delinsAC) c.2354_2355delinsAC (p.Asn785=) c.2474_2475delinsAC (p.Asn825=) c.2728_2729delinsAC c.1970_1971delinsAC (p.Asn657=) c.2351_2352delinsAC (p.Asn784=) c.1940_1941delinsAC (p.Asn647=) c.2536_2537delinsAC (p.Thr846=) n.108+1943_108+1944delinsAC c.2396_2397delinsAC (p.Asn799=) c.2093_2094delinsAC (p.Asn698=) n.2808_2809delinsAC n.2451_2452delinsAC
19	g.11129598C>A	CA040801	LDLR	c.2733C>A (p.Asn911Lys) c.544C>A (n.544C>A) c.2355C>A (p.Asn785Lys) c.2475C>A (p.Asn825Lys) c.2729C>A c.1971C>A (p.Asn657Lys) c.2352C>A (p.Asn784Lys) c.1941C>A (p.Asn647Lys) c.2537C>A (p.Thr846Asn) n.108+1944C>A c.2397C>A (p.Asn799Lys) c.2094C>A (p.Asn698Lys) n.2809C>A n.2452C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129598C=	CA2322780295	LDLR	c.2733C= (p.Asn911=) c.544C= (n.544C=) c.2355C= (p.Asn785=) c.2475C= (p.Asn825=) c.2729C= c.1971C= (p.Asn657=) c.2352C= (p.Asn784=) c.1941C= (p.Asn647=) c.2537C= (p.Thr846=) n.108+1944C= c.2397C= (p.Asn799=) c.2094C= (p.Asn698=) n.2809C= n.2452C=
19	g.11129598C>G	CA023675	LDLR	c.2733C>G (p.Asn911Lys) c.544C>G (n.544C>G) c.2355C>G (p.Asn785Lys) c.2475C>G (p.Asn825Lys) c.2729C>G c.1971C>G (p.Asn657Lys) c.2352C>G (p.Asn784Lys) c.1941C>G (p.Asn647Lys) c.2537C>G (p.Thr846Ser) n.108+1944C>G c.2397C>G (p.Asn799Lys) c.2094C>G (p.Asn698Lys) n.2809C>G n.2452C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129598C>T	CA404099189	LDLR	c.2733C>T (p.Asn911=) c.544C>T (n.544C>T) c.2355C>T (p.Asn785=) c.2475C>T (p.Asn825=) c.2729C>T c.1971C>T (p.Asn657=) c.2352C>T (p.Asn784=) c.1941C>T (p.Asn647=) c.2537C>T (p.Thr846Ile) n.108+1944C>T c.2397C>T (p.Asn799=) c.2094C>T (p.Asn698=) n.2809C>T n.2452C>T
19	g.11129601dup	CA10585872	LDLR	c.2736dup (p.Val913ArgfsTer9) c.547dup (n.547dup) c.2358dup (p.Val787ArgfsTer9) c.2478dup (p.Val827ArgfsTer9) c.2732dup c.1974dup (p.Val659ArgfsTer9) c.2355dup (p.Val786ArgfsTer9) c.1944dup (p.Val649ArgfsTer9) c.2540dup (p.Ser848ValfsTer?) n.108+1947dup c.2400dup (p.Val801ArgfsTer9) c.2097dup (p.Val700ArgfsTer9) n.2812dup n.2455dup	ClinVar dbSNP
19	g.11129601del	CA10585871	LDLR	c.2736del (p.Val913SerfsTer?) c.547del (n.547del) c.2358del (p.Val787SerfsTer?) c.2478del (p.Val827SerfsTer?) c.2732del c.1974del (p.Val659SerfsTer?) c.2355del (p.Val786SerfsTer?) c.1944del (p.Val649SerfsTer?) c.2540del (p.Pro847ArgfsTer9) n.108+1947del c.2400del (p.Val801SerfsTer?) c.2097del (p.Val700SerfsTer?) n.2812del n.2455del	ClinVar dbSNP gnomAD v4
19	g.11129599C>A	CA10585870	LDLR	c.2734C>A (p.Pro912Thr) c.545C>A (n.545C>A) c.2356C>A (p.Pro786Thr) c.2476C>A (p.Pro826Thr) c.2730C>A c.1972C>A (p.Pro658Thr) c.2353C>A (p.Pro785Thr) c.1942C>A (p.Pro648Thr) c.2538C>A (p.Thr846=) n.108+1945C>A c.2398C>A (p.Pro800Thr) c.2095C>A (p.Pro699Thr) n.2810C>A n.2453C>A	ClinVar dbSNP gnomAD v4
19	g.11129599C=	CA2322780296	LDLR	c.2734C= (p.Pro912=) c.545C= (n.545C=) c.2356C= (p.Pro786=) c.2476C= (p.Pro826=) c.2730C= c.1972C= (p.Pro658=) c.2353C= (p.Pro785=) c.1942C= (p.Pro648=) c.2538C= (p.Thr846=) n.108+1945C= c.2398C= (p.Pro800=) c.2095C= (p.Pro699=) n.2810C= n.2453C=
19	g.11129599C>G	CA404099201	LDLR	c.2734C>G (p.Pro912Ala) c.545C>G (n.545C>G) c.2356C>G (p.Pro786Ala) c.2476C>G (p.Pro826Ala) c.2730C>G c.1972C>G (p.Pro658Ala) c.2353C>G (p.Pro785Ala) c.1942C>G (p.Pro648Ala) c.2538C>G (p.Thr846=) n.108+1945C>G c.2398C>G (p.Pro800Ala) c.2095C>G (p.Pro699Ala) n.2810C>G n.2453C>G	dbSNP gnomAD v3 gnomAD v4
19	g.11129599C>T	CA404099205	LDLR	c.2734C>T (p.Pro912Ser) c.545C>T (n.545C>T) c.2356C>T (p.Pro786Ser) c.2476C>T (p.Pro826Ser) c.2730C>T c.1972C>T (p.Pro658Ser) c.2353C>T (p.Pro785Ser) c.1942C>T (p.Pro648Ser) c.2538C>T (p.Thr846=) n.108+1945C>T c.2398C>T (p.Pro800Ser) c.2095C>T (p.Pro699Ser) n.2810C>T n.2453C>T	ClinVar dbSNP gnomAD v4
19	g.11129600C>A	CA404099214	LDLR	c.2735C>A (p.Pro912His) c.546C>A (n.546C>A) c.2357C>A (p.Pro786His) c.2477C>A (p.Pro826His) c.2731C>A c.1973C>A (p.Pro658His) c.2354C>A (p.Pro785His) c.1943C>A (p.Pro648His) c.2539C>A (p.Pro847Thr) n.108+1946C>A c.2399C>A (p.Pro800His) c.2096C>A (p.Pro699His) n.2811C>A n.2454C>A
19	g.11129600C>G	CA404099210	LDLR	c.2735C>G (p.Pro912Arg) c.546C>G (n.546C>G) c.2357C>G (p.Pro786Arg) c.2477C>G (p.Pro826Arg) c.2731C>G c.1973C>G (p.Pro658Arg) c.2354C>G (p.Pro785Arg) c.1943C>G (p.Pro648Arg) c.2539C>G (p.Pro847Ala) n.108+1946C>G c.2399C>G (p.Pro800Arg) c.2096C>G (p.Pro699Arg) n.2811C>G n.2454C>G
19	g.11129600C>T	CA404099217	LDLR	c.2735C>T (p.Pro912Leu) c.546C>T (n.546C>T) c.2357C>T (p.Pro786Leu) c.2477C>T (p.Pro826Leu) c.2731C>T c.1973C>T (p.Pro658Leu) c.2354C>T (p.Pro785Leu) c.1943C>T (p.Pro648Leu) c.2539C>T (p.Pro847Ser) n.108+1946C>T c.2399C>T (p.Pro800Leu) c.2096C>T (p.Pro699Leu) n.2811C>T n.2454C>T
19	g.11129601C>A	CA404099236	LDLR	c.2736C>A (p.Pro912=) c.547C>A (n.547C>A) c.2358C>A (p.Pro786=) c.2478C>A (p.Pro826=) c.2732C>A c.1974C>A (p.Pro658=) c.2355C>A (p.Pro785=) c.1944C>A (p.Pro648=) c.2540C>A (p.Pro847Gln) n.108+1947C>A c.2400C>A (p.Pro800=) c.2097C>A (p.Pro699=) n.2812C>A n.2455C>A
19	g.11129601C=	CA2322780297	LDLR	c.2736C= (p.Pro912=) c.547C= (n.547C=) c.2358C= (p.Pro786=) c.2478C= (p.Pro826=) c.2732C= c.1974C= (p.Pro658=) c.2355C= (p.Pro785=) c.1944C= (p.Pro648=) c.2540C= (p.Pro847=) n.108+1947C= c.2400C= (p.Pro800=) c.2097C= (p.Pro699=) n.2812C= n.2455C=
19	g.11129601C>G	CA404099241	LDLR	c.2736C>G (p.Pro912=) c.547C>G (n.547C>G) c.2358C>G (p.Pro786=) c.2478C>G (p.Pro826=) c.2732C>G c.1974C>G (p.Pro658=) c.2355C>G (p.Pro785=) c.1944C>G (p.Pro648=) c.2540C>G (p.Pro847Arg) n.108+1947C>G c.2400C>G (p.Pro800=) c.2097C>G (p.Pro699=) n.2812C>G n.2455C>G	ClinVar
19	g.11129601C>T	CA040824	LDLR	c.2736C>T (p.Pro912=) c.547C>T (n.547C>T) c.2358C>T (p.Pro786=) c.2478C>T (p.Pro826=) c.2732C>T c.1974C>T (p.Pro658=) c.2355C>T (p.Pro785=) c.1944C>T (p.Pro648=) c.2540C>T (p.Pro847Leu) n.108+1947C>T c.2400C>T (p.Pro800=) c.2097C>T (p.Pro699=) n.2812C>T n.2455C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129601_11129602insTTT	CA9204963	LDLR	c.2736_2737insTTT (p.Pro912_Val913insPhe) c.547_548insTTT (n.547_548insTTT) c.2358_2359insTTT (p.Pro786_Val787insPhe) c.2478_2479insTTT (p.Pro826_Val827insPhe) c.2732_2733insTTT c.1974_1975insTTT (p.Pro658_Val659insPhe) c.2355_2356insTTT (p.Pro785_Val786insPhe) c.1944_1945insTTT (p.Pro648_Val649insPhe) c.2540_2541insTTT (p.Pro847_Ser848insLeu) n.108+1947_108+1948insTTT c.2400_2401insTTT (p.Pro800_Val801insPhe) c.2097_2098insTTT (p.Pro699_Val700insPhe) n.2812_2813insTTT n.2455_2456insTTT	dbSNP ExAC gnomAD v2
19	g.11129602G>A	CA023677	LDLR	c.2737G>A (p.Val913Ile) c.548G>A (n.548G>A) c.2359G>A (p.Val787Ile) c.2479G>A (p.Val827Ile) c.2733G>A c.1975G>A (p.Val659Ile) c.2356G>A (p.Val786Ile) c.1945G>A (p.Val649Ile) c.2541G>A (p.Pro847=) n.108+1948G>A c.2401G>A (p.Val801Ile) c.2098G>A (p.Val700Ile) n.2813G>A n.2456G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129602G>C	CA404099245	LDLR	c.2737G>C (p.Val913Leu) c.548G>C (n.548G>C) c.2359G>C (p.Val787Leu) c.2479G>C (p.Val827Leu) c.2733G>C c.1975G>C (p.Val659Leu) c.2356G>C (p.Val786Leu) c.1945G>C (p.Val649Leu) c.2541G>C (p.Pro847=) n.108+1948G>C c.2401G>C (p.Val801Leu) c.2098G>C (p.Val700Leu) n.2813G>C n.2456G>C
19	g.11129602G=	CA2322780298	LDLR	c.2737G= (p.Val913=) c.548G= (n.548G=) c.2359G= (p.Val787=) c.2479G= (p.Val827=) c.2733G= c.1975G= (p.Val659=) c.2356G= (p.Val786=) c.1945G= (p.Val649=) c.2541G= (p.Pro847=) n.108+1948G= c.2401G= (p.Val801=) c.2098G= (p.Val700=) n.2813G= n.2456G=
19	g.11129602G>T	CA16602353	LDLR	c.2737G>T (p.Val913Phe) c.548G>T (n.548G>T) c.2359G>T (p.Val787Phe) c.2479G>T (p.Val827Phe) c.2733G>T c.1975G>T (p.Val659Phe) c.2356G>T (p.Val786Phe) c.1945G>T (p.Val649Phe) c.2541G>T (p.Pro847=) n.108+1948G>T c.2401G>T (p.Val801Phe) c.2098G>T (p.Val700Phe) n.2813G>T n.2456G>T	ClinVar dbSNP gnomAD v4

Number of alleles fetched