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.11129512_11133830del	CA658824397	LDLR	c.2390-1_2514del c.2267-1_2514del c.1886-1_2514del c.1856-1_2514del	ClinVar
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.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.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
19	g.11129603T>A	CA404099252	LDLR	c.2738T>A (p.Val913Asp) c.549T>A (n.549T>A) c.2360T>A (p.Val787Asp) c.2480T>A (p.Val827Asp) c.2734T>A c.1976T>A (p.Val659Asp) c.2357T>A (p.Val786Asp) c.1946T>A (p.Val649Asp) c.2542T>A (p.Ser848Thr) n.108+1949T>A c.2402T>A (p.Val801Asp) c.2099T>A (p.Val700Asp) n.2814T>A n.2457T>A	ClinVar dbSNP
19	g.11129603T>C	CA404099255	LDLR	c.2738T>C (p.Val913Ala) c.549T>C (n.549T>C) c.2360T>C (p.Val787Ala) c.2480T>C (p.Val827Ala) c.2734T>C c.1976T>C (p.Val659Ala) c.2357T>C (p.Val786Ala) c.1946T>C (p.Val649Ala) c.2542T>C (p.Ser848Pro) n.108+1949T>C c.2402T>C (p.Val801Ala) c.2099T>C (p.Val700Ala) n.2814T>C n.2457T>C
19	g.11129603T>G	CA404099257	LDLR	c.2738T>G (p.Val913Gly) c.549T>G (n.549T>G) c.2360T>G (p.Val787Gly) c.2480T>G (p.Val827Gly) c.2734T>G c.1976T>G (p.Val659Gly) c.2357T>G (p.Val786Gly) c.1946T>G (p.Val649Gly) c.2542T>G (p.Ser848Ala) n.108+1949T>G c.2402T>G (p.Val801Gly) c.2099T>G (p.Val700Gly) n.2814T>G n.2457T>G
19	g.11129603T=	CA2322780299	LDLR	c.2738T= (p.Val913=) c.549T= (n.549T=) c.2360T= (p.Val787=) c.2480T= (p.Val827=) c.2734T= c.1976T= (p.Val659=) c.2357T= (p.Val786=) c.1946T= (p.Val649=) c.2542T= (p.Ser848=) n.108+1949T= c.2402T= (p.Val801=) c.2099T= (p.Val700=) n.2814T= n.2457T=
19	g.11129604C>A	CA404099269	LDLR	c.2739C>A (p.Val913=) c.550C>A (n.550C>A) c.2361C>A (p.Val787=) c.2481C>A (p.Val827=) c.2735C>A c.1977C>A (p.Val659=) c.2358C>A (p.Val786=) c.1947C>A (p.Val649=) c.2543C>A (p.Ser848Tyr) n.108+1950C>A c.2403C>A (p.Val801=) c.2100C>A (p.Val700=) n.2815C>A n.2458C>A
19	g.11129604C=	CA2322780300	LDLR	c.2739C= (p.Val913=) c.550C= (n.550C=) c.2361C= (p.Val787=) c.2481C= (p.Val827=) c.2735C= c.1977C= (p.Val659=) c.2358C= (p.Val786=) c.1947C= (p.Val649=) c.2543C= (p.Ser848=) n.108+1950C= c.2403C= (p.Val801=) c.2100C= (p.Val700=) n.2815C= n.2458C=
19	g.11129604C>G	CA404099264	LDLR	c.2739C>G (p.Val913=) c.550C>G (n.550C>G) c.2361C>G (p.Val787=) c.2481C>G (p.Val827=) c.2735C>G c.1977C>G (p.Val659=) c.2358C>G (p.Val786=) c.1947C>G (p.Val649=) c.2543C>G (p.Ser848Cys) n.108+1950C>G c.2403C>G (p.Val801=) c.2100C>G (p.Val700=) n.2815C>G n.2458C>G
19	g.11129604C>T	CA040869	LDLR	c.2739C>T (p.Val913=) c.550C>T (n.550C>T) c.2361C>T (p.Val787=) c.2481C>T (p.Val827=) c.2735C>T c.1977C>T (p.Val659=) c.2358C>T (p.Val786=) c.1947C>T (p.Val649=) c.2543C>T (p.Ser848Phe) n.108+1950C>T c.2403C>T (p.Val801=) c.2100C>T (p.Val700=) n.2815C>T n.2458C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129604_11129605insAACTTCTGACAAC	CA040853	LDLR	c.2739_2740insAACTTCTGACAAC (p.Tyr914AsnfsTer3) c.550_551insAACTTCTGACAAC (n.550_551insAACTTCTGACAAC) c.2361_2362insAACTTCTGACAAC (p.Tyr788AsnfsTer3) c.2481_2482insAACTTCTGACAAC (p.Tyr828AsnfsTer3) c.2735_2736insAACTTCTGACAAC c.1977_1978insAACTTCTGACAAC (p.Tyr660AsnfsTer3) c.2358_2359insAACTTCTGACAAC (p.Tyr787AsnfsTer3) c.1947_1948insAACTTCTGACAAC (p.Tyr650AsnfsTer3) c.2543_2544insAACTTCTGACAAC (p.Ile849ThrfsTer?) n.108+1950_108+1951insAACTTCTGACAAC c.2403_2404insAACTTCTGACAAC (p.Tyr802AsnfsTer3) c.2100_2101insAACTTCTGACAAC (p.Tyr701AsnfsTer3) n.2815_2816insAACTTCTGACAAC n.2458_2459insAACTTCTGACAAC	dbSNP ExAC gnomAD v2
19	g.11129605T>A	CA404099277	LDLR	c.2740T>A (p.Tyr914Asn) c.551T>A (n.551T>A) c.2362T>A (p.Tyr788Asn) c.2482T>A (p.Tyr828Asn) c.2736T>A c.1978T>A (p.Tyr660Asn) c.2359T>A (p.Tyr787Asn) c.1948T>A (p.Tyr650Asn) c.2544T>A (p.Ser848=) n.108+1951T>A c.2404T>A (p.Tyr802Asn) c.2101T>A (p.Tyr701Asn) n.2816T>A n.2459T>A
19	g.11129605T>C	CA10585873	LDLR	c.2740T>C (p.Tyr914His) c.551T>C (n.551T>C) c.2362T>C (p.Tyr788His) c.2482T>C (p.Tyr828His) c.2736T>C c.1978T>C (p.Tyr660His) c.2359T>C (p.Tyr787His) c.1948T>C (p.Tyr650His) c.2544T>C (p.Ser848=) n.108+1951T>C c.2404T>C (p.Tyr802His) c.2101T>C (p.Tyr701His) n.2816T>C n.2459T>C	ClinVar dbSNP
19	g.11129605T>G	CA404099293	LDLR	c.2740T>G (p.Tyr914Asp) c.551T>G (n.551T>G) c.2362T>G (p.Tyr788Asp) c.2482T>G (p.Tyr828Asp) c.2736T>G c.1978T>G (p.Tyr660Asp) c.2359T>G (p.Tyr787Asp) c.1948T>G (p.Tyr650Asp) c.2544T>G (p.Ser848=) n.108+1951T>G c.2404T>G (p.Tyr802Asp) c.2101T>G (p.Tyr701Asp) n.2816T>G n.2459T>G
19	g.11129605T=	CA2322780301	LDLR	c.2740T= (p.Tyr914=) c.551T= (n.551T=) c.2362T= (p.Tyr788=) c.2482T= (p.Tyr828=) c.2736T= c.1978T= (p.Tyr660=) c.2359T= (p.Tyr787=) c.1948T= (p.Tyr650=) c.2544T= (p.Ser848=) n.108+1951T= c.2404T= (p.Tyr802=) c.2101T= (p.Tyr701=) n.2816T= n.2459T=
19	g.11129605dup	CA16602354	LDLR	c.2740dup (p.Tyr914LeufsTer8) c.551dup (n.551dup) c.2362dup (p.Tyr788LeufsTer8) c.2482dup (p.Tyr828LeufsTer8) c.2736dup c.1978dup (p.Tyr660LeufsTer8) c.2359dup (p.Tyr787LeufsTer8) c.1948dup (p.Tyr650LeufsTer8) c.2544dup (p.Ile849TyrfsTer?) n.108+1951dup c.2404dup (p.Tyr802LeufsTer8) c.2101dup (p.Tyr701LeufsTer8) n.2816dup n.2459dup	ClinVar dbSNP
19	g.11129606del	CA2497030107	LDLR	c.2741del (p.Tyr914PhefsTer?) c.552del (n.552del) c.2363del (p.Tyr788PhefsTer?) c.2483del (p.Tyr828PhefsTer?) c.2737del c.1979del (p.Tyr660PhefsTer?) c.2360del (p.Tyr787PhefsTer?) c.1949del (p.Tyr650PhefsTer?) c.2545del (p.Ile849SerfsTer7) n.108+1952del c.2405del (p.Tyr802PhefsTer?) c.2102del (p.Tyr701PhefsTer?) n.2817del n.2460del
19	g.11129606A=	CA2322780302	LDLR	c.2741A= (p.Tyr914=) c.552A= (n.552A=) c.2363A= (p.Tyr788=) c.2483A= (p.Tyr828=) c.2737A= c.1979A= (p.Tyr660=) c.2360A= (p.Tyr787=) c.1949A= (p.Tyr650=) c.2545A= (p.Ile849=) n.108+1952A= c.2405A= (p.Tyr802=) c.2102A= (p.Tyr701=) n.2817A= n.2460A=
19	g.11129606A>C	CA10576335	LDLR	c.2741A>C (p.Tyr914Ser) c.552A>C (n.552A>C) c.2363A>C (p.Tyr788Ser) c.2483A>C (p.Tyr828Ser) c.2737A>C c.1979A>C (p.Tyr660Ser) c.2360A>C (p.Tyr787Ser) c.1949A>C (p.Tyr650Ser) c.2545A>C (p.Ile849Leu) n.108+1952A>C c.2405A>C (p.Tyr802Ser) c.2102A>C (p.Tyr701Ser) n.2817A>C n.2460A>C	ClinVar dbSNP gnomAD v4
19	g.11129606A>G	CA023679	LDLR	c.2741A>G (p.Tyr914Cys) c.552A>G (n.552A>G) c.2363A>G (p.Tyr788Cys) c.2483A>G (p.Tyr828Cys) c.2737A>G c.1979A>G (p.Tyr660Cys) c.2360A>G (p.Tyr787Cys) c.1949A>G (p.Tyr650Cys) c.2545A>G (p.Ile849Val) n.108+1952A>G c.2405A>G (p.Tyr802Cys) c.2102A>G (p.Tyr701Cys) n.2817A>G n.2460A>G	ClinVar dbSNP gnomAD v4
19	g.11129606A>T	CA404099295	LDLR	c.2741A>T (p.Tyr914Phe) c.552A>T (n.552A>T) c.2363A>T (p.Tyr788Phe) c.2483A>T (p.Tyr828Phe) c.2737A>T c.1979A>T (p.Tyr660Phe) c.2360A>T (p.Tyr787Phe) c.1949A>T (p.Tyr650Phe) c.2545A>T (p.Ile849Phe) n.108+1952A>T c.2405A>T (p.Tyr802Phe) c.2102A>T (p.Tyr701Phe) n.2817A>T n.2460A>T
19	g.11129607T>A	CA404099297	LDLR	c.2742T>A (p.Tyr914Ter) c.553T>A (n.553T>A) c.2364T>A (p.Tyr788Ter) c.2484T>A (p.Tyr828Ter) c.2738T>A c.1980T>A (p.Tyr660Ter) c.2361T>A (p.Tyr787Ter) c.1950T>A (p.Tyr650Ter) c.2546T>A (p.Ile849Asn) n.108+1953T>A c.2406T>A (p.Tyr802Ter) c.2103T>A (p.Tyr701Ter) n.2818T>A n.2461T>A
19	g.11129607T>C	CA404099298	LDLR	c.2742T>C (p.Tyr914=) c.553T>C (n.553T>C) c.2364T>C (p.Tyr788=) c.2484T>C (p.Tyr828=) c.2738T>C c.1980T>C (p.Tyr660=) c.2361T>C (p.Tyr787=) c.1950T>C (p.Tyr650=) c.2546T>C (p.Ile849Thr) n.108+1953T>C c.2406T>C (p.Tyr802=) c.2103T>C (p.Tyr701=) n.2818T>C n.2461T>C
19	g.11129607T>G	CA404099315	LDLR	c.2742T>G (p.Tyr914Ter) c.553T>G (n.553T>G) c.2364T>G (p.Tyr788Ter) c.2484T>G (p.Tyr828Ter) c.2738T>G c.1980T>G (p.Tyr660Ter) c.2361T>G (p.Tyr787Ter) c.1950T>G (p.Tyr650Ter) c.2546T>G (p.Ile849Ser) n.108+1953T>G c.2406T>G (p.Tyr802Ter) c.2103T>G (p.Tyr701Ter) n.2818T>G n.2461T>G
19	g.11129608C>A	CA404099331	LDLR	c.2743C>A (p.Gln915Lys) c.554C>A (n.554C>A) c.2365C>A (p.Gln789Lys) c.2485C>A (p.Gln829Lys) c.2739C>A c.1981C>A (p.Gln661Lys) c.2362C>A (p.Gln788Lys) c.1951C>A (p.Gln651Lys) c.2547C>A (p.Ile849=) n.108+1954C>A c.2407C>A (p.Gln803Lys) c.2104C>A (p.Gln702Lys) n.2819C>A n.2462C>A
19	g.11129608C=	CA2322780303	LDLR	c.2743C= (p.Gln915=) c.554C= (n.554C=) c.2365C= (p.Gln789=) c.2485C= (p.Gln829=) c.2739C= c.1981C= (p.Gln661=) c.2362C= (p.Gln788=) c.1951C= (p.Gln651=) c.2547C= (p.Ile849=) n.108+1954C= c.2407C= (p.Gln803=) c.2104C= (p.Gln702=) n.2819C= n.2462C=
19	g.11129608C>G	CA404099326	LDLR	c.2743C>G (p.Gln915Glu) c.554C>G (n.554C>G) c.2365C>G (p.Gln789Glu) c.2485C>G (p.Gln829Glu) c.2739C>G c.1981C>G (p.Gln661Glu) c.2362C>G (p.Gln788Glu) c.1951C>G (p.Gln651Glu) c.2547C>G (p.Ile849Met) n.108+1954C>G c.2407C>G (p.Gln803Glu) c.2104C>G (p.Gln702Glu) n.2819C>G n.2462C>G
19	g.11129608C>T	CA404099321	LDLR	c.2743C>T (p.Gln915Ter) c.554C>T (n.554C>T) c.2365C>T (p.Gln789Ter) c.2485C>T (p.Gln829Ter) c.2739C>T c.1981C>T (p.Gln661Ter) c.2362C>T (p.Gln788Ter) c.1951C>T (p.Gln651Ter) c.2547C>T (p.Ile849=) n.108+1954C>T c.2407C>T (p.Gln803Ter) c.2104C>T (p.Gln702Ter) n.2819C>T n.2462C>T	ClinVar dbSNP
19	g.11129609A>C	CA404099341	LDLR	c.2744A>C (p.Gln915Pro) c.555A>C (n.555A>C) c.2366A>C (p.Gln789Pro) c.2486A>C (p.Gln829Pro) c.2740A>C c.1982A>C (p.Gln661Pro) c.2363A>C (p.Gln788Pro) c.1952A>C (p.Gln651Pro) c.2548A>C (p.Arg850=) n.108+1955A>C c.2408A>C (p.Gln803Pro) c.2105A>C (p.Gln702Pro) n.2820A>C n.2463A>C
19	g.11129609A>G	CA404099343	LDLR	c.2744A>G (p.Gln915Arg) c.555A>G (n.555A>G) c.2366A>G (p.Gln789Arg) c.2486A>G (p.Gln829Arg) c.2740A>G c.1982A>G (p.Gln661Arg) c.2363A>G (p.Gln788Arg) c.1952A>G (p.Gln651Arg) c.2548A>G (p.Arg850Gly) n.108+1955A>G c.2408A>G (p.Gln803Arg) c.2105A>G (p.Gln702Arg) n.2820A>G n.2463A>G
19	g.11129609A>T	CA404099346	LDLR	c.2744A>T (p.Gln915Leu) c.555A>T (n.555A>T) c.2366A>T (p.Gln789Leu) c.2486A>T (p.Gln829Leu) c.2740A>T c.1982A>T (p.Gln661Leu) c.2363A>T (p.Gln788Leu) c.1952A>T (p.Gln651Leu) c.2548A>T (p.Arg850Ter) n.108+1955A>T c.2408A>T (p.Gln803Leu) c.2105A>T (p.Gln702Leu) n.2820A>T n.2463A>T	gnomAD v4
19	g.11129610G>A	CA404099352	LDLR	c.2745G>A (p.Gln915=) c.556G>A (n.556G>A) c.2367G>A (p.Gln789=) c.2487G>A (p.Gln829=) c.2741G>A c.1983G>A (p.Gln661=) c.2364G>A (p.Gln788=) c.1953G>A (p.Gln651=) c.2549G>A (p.Arg850Lys) n.108+1956G>A c.2409G>A (p.Gln803=) c.2106G>A (p.Gln702=) n.2821G>A n.2464G>A
19	g.11129610G>C	CA404099353	LDLR	c.2745G>C (p.Gln915His) c.556G>C (n.556G>C) c.2367G>C (p.Gln789His) c.2487G>C (p.Gln829His) c.2741G>C c.1983G>C (p.Gln661His) c.2364G>C (p.Gln788His) c.1953G>C (p.Gln651His) c.2549G>C (p.Arg850Thr) n.108+1956G>C c.2409G>C (p.Gln803His) c.2106G>C (p.Gln702His) n.2821G>C n.2464G>C	ClinVar dbSNP
19	g.11129610G>T	CA404099355	LDLR	c.2745G>T (p.Gln915His) c.556G>T (n.556G>T) c.2367G>T (p.Gln789His) c.2487G>T (p.Gln829His) c.2741G>T c.1983G>T (p.Gln661His) c.2364G>T (p.Gln788His) c.1953G>T (p.Gln651His) c.2549G>T (p.Arg850Ile) n.108+1956G>T c.2409G>T (p.Gln803His) c.2106G>T (p.Gln702His) n.2821G>T n.2464G>T
19	g.11129611A>C	CA404099361	LDLR	c.2746A>C (p.Lys916Gln) c.557A>C (n.557A>C) c.2368A>C (p.Lys790Gln) c.2488A>C (p.Lys830Gln) c.2742A>C c.1984A>C (p.Lys662Gln) c.2365A>C (p.Lys789Gln) c.1954A>C (p.Lys652Gln) c.2550A>C (p.Arg850Ser) n.108+1957A>C c.2410A>C (p.Lys804Gln) c.2107A>C (p.Lys703Gln) n.2822A>C n.2465A>C
19	g.11129611A>G	CA404099372	LDLR	c.2746A>G (p.Lys916Glu) c.557A>G (n.557A>G) c.2368A>G (p.Lys790Glu) c.2488A>G (p.Lys830Glu) c.2742A>G c.1984A>G (p.Lys662Glu) c.2365A>G (p.Lys789Glu) c.1954A>G (p.Lys652Glu) c.2550A>G (p.Arg850=) n.108+1957A>G c.2410A>G (p.Lys804Glu) c.2107A>G (p.Lys703Glu) n.2822A>G n.2465A>G
19	g.11129611A>T	CA404099375	LDLR	c.2746A>T (p.Lys916Ter) c.557A>T (n.557A>T) c.2368A>T (p.Lys790Ter) c.2488A>T (p.Lys830Ter) c.2742A>T c.1984A>T (p.Lys662Ter) c.2365A>T (p.Lys789Ter) c.1954A>T (p.Lys652Ter) c.2550A>T (p.Arg850Ser) n.108+1957A>T c.2410A>T (p.Lys804Ter) c.2107A>T (p.Lys703Ter) n.2822A>T n.2465A>T	ClinVar dbSNP
19	g.11129612A>C	CA404099377	LDLR	c.2747A>C (p.Lys916Thr) c.558A>C (n.558A>C) c.2369A>C (p.Lys790Thr) c.2489A>C (p.Lys830Thr) c.2743A>C c.1985A>C (p.Lys662Thr) c.2366A>C (p.Lys789Thr) c.1955A>C (p.Lys652Thr) c.2551A>C (p.Arg851=) n.108+1958A>C c.2411A>C (p.Lys804Thr) c.2108A>C (p.Lys703Thr) n.2823A>C n.2466A>C
19	g.11129612A>G	CA404099380	LDLR	c.2747A>G (p.Lys916Arg) c.558A>G (n.558A>G) c.2369A>G (p.Lys790Arg) c.2489A>G (p.Lys830Arg) c.2743A>G c.1985A>G (p.Lys662Arg) c.2366A>G (p.Lys789Arg) c.1955A>G (p.Lys652Arg) c.2551A>G (p.Arg851Gly) n.108+1958A>G c.2411A>G (p.Lys804Arg) c.2108A>G (p.Lys703Arg) n.2823A>G n.2466A>G
19	g.11129612A>T	CA404099382	LDLR	c.2747A>T (p.Lys916Met) c.558A>T (n.558A>T) c.2369A>T (p.Lys790Met) c.2489A>T (p.Lys830Met) c.2743A>T c.1985A>T (p.Lys662Met) c.2366A>T (p.Lys789Met) c.1955A>T (p.Lys652Met) c.2551A>T (p.Arg851Ter) n.108+1958A>T c.2411A>T (p.Lys804Met) c.2108A>T (p.Lys703Met) n.2823A>T n.2466A>T
19	g.11129613G>A	CA404099392	LDLR	c.2748G>A (p.Lys916=) c.559G>A (n.559G>A) c.2370G>A (p.Lys790=) c.2490G>A (p.Lys830=) c.2744G>A c.1986G>A (p.Lys662=) c.2367G>A (p.Lys789=) c.1956G>A (p.Lys652=) c.2552G>A (p.Arg851Lys) n.108+1959G>A c.2412G>A (p.Lys804=) c.2109G>A (p.Lys703=) n.2824G>A n.2467G>A	ClinVar gnomAD v4
19	g.11129613G>C	CA404099388	LDLR	c.2748G>C (p.Lys916Asn) c.559G>C (n.559G>C) c.2370G>C (p.Lys790Asn) c.2490G>C (p.Lys830Asn) c.2744G>C c.1986G>C (p.Lys662Asn) c.2367G>C (p.Lys789Asn) c.1956G>C (p.Lys652Asn) c.2552G>C (p.Arg851Thr) n.108+1959G>C c.2412G>C (p.Lys804Asn) c.2109G>C (p.Lys703Asn) n.2824G>C n.2467G>C
19	g.11129613G>T	CA404099389	LDLR	c.2748G>T (p.Lys916Asn) c.559G>T (n.559G>T) c.2370G>T (p.Lys790Asn) c.2490G>T (p.Lys830Asn) c.2744G>T c.1986G>T (p.Lys662Asn) c.2367G>T (p.Lys789Asn) c.1956G>T (p.Lys652Asn) c.2552G>T (p.Arg851Ile) n.108+1959G>T c.2412G>T (p.Lys804Asn) c.2109G>T (p.Lys703Asn) n.2824G>T n.2467G>T
19	g.11129614A>C	CA404099399	LDLR	c.2749A>C (p.Thr917Pro) c.560A>C (n.560A>C) c.2371A>C (p.Thr791Pro) c.2491A>C (p.Thr831Pro) c.2745A>C c.1987A>C (p.Thr663Pro) c.2368A>C (p.Thr790Pro) c.1957A>C (p.Thr653Pro) c.2553A>C (p.Arg851Ser) n.108+1960A>C c.2413A>C (p.Thr805Pro) c.2110A>C (p.Thr704Pro) n.2825A>C n.2468A>C
19	g.11129614A>G	CA404099408	LDLR	c.2749A>G (p.Thr917Ala) c.560A>G (n.560A>G) c.2371A>G (p.Thr791Ala) c.2491A>G (p.Thr831Ala) c.2745A>G c.1987A>G (p.Thr663Ala) c.2368A>G (p.Thr790Ala) c.1957A>G (p.Thr653Ala) c.2553A>G (p.Arg851=) n.108+1960A>G c.2413A>G (p.Thr805Ala) c.2110A>G (p.Thr704Ala) n.2825A>G n.2468A>G	gnomAD v4
19	g.11129614A>T	CA404099411	LDLR	c.2749A>T (p.Thr917Ser) c.560A>T (n.560A>T) c.2371A>T (p.Thr791Ser) c.2491A>T (p.Thr831Ser) c.2745A>T c.1987A>T (p.Thr663Ser) c.2368A>T (p.Thr790Ser) c.1957A>T (p.Thr653Ser) c.2553A>T (p.Arg851Ser) n.108+1960A>T c.2413A>T (p.Thr805Ser) c.2110A>T (p.Thr704Ser) n.2825A>T n.2468A>T
19	g.11129615C>A	CA404099413	LDLR	c.2750C>A (p.Thr917Asn) c.561C>A (n.561C>A) c.2372C>A (p.Thr791Asn) c.2492C>A (p.Thr831Asn) c.2746C>A c.1988C>A (p.Thr663Asn) c.2369C>A (p.Thr790Asn) c.1958C>A (p.Thr653Asn) c.2554C>A (p.Pro852Thr) n.108+1961C>A c.2414C>A (p.Thr805Asn) c.2111C>A (p.Thr704Asn) n.2826C>A n.2469C>A
19	g.11129615C>G	CA404099414	LDLR	c.2750C>G (p.Thr917Ser) c.561C>G (n.561C>G) c.2372C>G (p.Thr791Ser) c.2492C>G (p.Thr831Ser) c.2746C>G c.1988C>G (p.Thr663Ser) c.2369C>G (p.Thr790Ser) c.1958C>G (p.Thr653Ser) c.2554C>G (p.Pro852Ala) n.108+1961C>G c.2414C>G (p.Thr805Ser) c.2111C>G (p.Thr704Ser) n.2826C>G n.2469C>G
19	g.11129615C>T	CA404099415	LDLR	c.2750C>T (p.Thr917Ile) c.561C>T (n.561C>T) c.2372C>T (p.Thr791Ile) c.2492C>T (p.Thr831Ile) c.2746C>T c.1988C>T (p.Thr663Ile) c.2369C>T (p.Thr790Ile) c.1958C>T (p.Thr653Ile) c.2554C>T (p.Pro852Ser) n.108+1961C>T c.2414C>T (p.Thr805Ile) c.2111C>T (p.Thr704Ile) n.2826C>T n.2469C>T
19	g.11129616C>A	CA404099416	LDLR	c.2751C>A (p.Thr917=) c.562C>A (n.562C>A) c.2373C>A (p.Thr791=) c.2493C>A (p.Thr831=) c.2747C>A c.1989C>A (p.Thr663=) c.2370C>A (p.Thr790=) c.1959C>A (p.Thr653=) c.2555C>A (p.Pro852Gln) n.108+1962C>A c.2415C>A (p.Thr805=) c.2112C>A (p.Thr704=) n.2827C>A n.2470C>A
19	g.11129616C>G	CA404099418	LDLR	c.2751C>G (p.Thr917=) c.562C>G (n.562C>G) c.2373C>G (p.Thr791=) c.2493C>G (p.Thr831=) c.2747C>G c.1989C>G (p.Thr663=) c.2370C>G (p.Thr790=) c.1959C>G (p.Thr653=) c.2555C>G (p.Pro852Arg) n.108+1962C>G c.2415C>G (p.Thr805=) c.2112C>G (p.Thr704=) n.2827C>G n.2470C>G
19	g.11129616C>T	CA404099423	LDLR	c.2751C>T (p.Thr917=) c.562C>T (n.562C>T) c.2373C>T (p.Thr791=) c.2493C>T (p.Thr831=) c.2747C>T c.1989C>T (p.Thr663=) c.2370C>T (p.Thr790=) c.1959C>T (p.Thr653=) c.2555C>T (p.Pro852Leu) n.108+1962C>T c.2415C>T (p.Thr805=) c.2112C>T (p.Thr704=) n.2827C>T n.2470C>T	gnomAD v4 COSMIC
19	g.11129617A>C	CA404099425	LDLR	c.2752A>C (p.Thr918Pro) c.563A>C (n.563A>C) c.2374A>C (p.Thr792Pro) c.2494A>C (p.Thr832Pro) c.2748A>C c.1990A>C (p.Thr664Pro) c.2371A>C (p.Thr791Pro) c.1960A>C (p.Thr654Pro) c.2556A>C (p.Pro852=) n.108+1963A>C c.2416A>C (p.Thr806Pro) c.2113A>C (p.Thr705Pro) n.2828A>C n.2471A>C
19	g.11129617A>G	CA404099426	LDLR	c.2752A>G (p.Thr918Ala) c.563A>G (n.563A>G) c.2374A>G (p.Thr792Ala) c.2494A>G (p.Thr832Ala) c.2748A>G c.1990A>G (p.Thr664Ala) c.2371A>G (p.Thr791Ala) c.1960A>G (p.Thr654Ala) c.2556A>G (p.Pro852=) n.108+1963A>G c.2416A>G (p.Thr806Ala) c.2113A>G (p.Thr705Ala) n.2828A>G n.2471A>G	ClinVar
19	g.11129617A>T	CA404099430	LDLR	c.2752A>T (p.Thr918Ser) c.563A>T (n.563A>T) c.2374A>T (p.Thr792Ser) c.2494A>T (p.Thr832Ser) c.2748A>T c.1990A>T (p.Thr664Ser) c.2371A>T (p.Thr791Ser) c.1960A>T (p.Thr654Ser) c.2556A>T (p.Pro852=) n.108+1963A>T c.2416A>T (p.Thr806Ser) c.2113A>T (p.Thr705Ser) n.2828A>T n.2471A>T
19	g.11129618C>A	CA404099447	LDLR	c.2753C>A (p.Thr918Lys) c.564C>A (n.564C>A) c.2375C>A (p.Thr792Lys) c.2495C>A (p.Thr832Lys) c.2749C>A c.1991C>A (p.Thr664Lys) c.2372C>A (p.Thr791Lys) c.1961C>A (p.Thr654Lys) c.2557C>A (p.Gln853Lys) n.108+1964C>A c.2417C>A (p.Thr806Lys) c.2114C>A (p.Thr705Lys) n.2829C>A n.2472C>A
19	g.11129618C>G	CA404099449	LDLR	c.2753C>G (p.Thr918Arg) c.564C>G (n.564C>G) c.2375C>G (p.Thr792Arg) c.2495C>G (p.Thr832Arg) c.2749C>G c.1991C>G (p.Thr664Arg) c.2372C>G (p.Thr791Arg) c.1961C>G (p.Thr654Arg) c.2557C>G (p.Gln853Glu) n.108+1964C>G c.2417C>G (p.Thr806Arg) c.2114C>G (p.Thr705Arg) n.2829C>G n.2472C>G
19	g.11129618C>T	CA404099436	LDLR	c.2753C>T (p.Thr918Ile) c.564C>T (n.564C>T) c.2375C>T (p.Thr792Ile) c.2495C>T (p.Thr832Ile) c.2749C>T c.1991C>T (p.Thr664Ile) c.2372C>T (p.Thr791Ile) c.1961C>T (p.Thr654Ile) c.2557C>T (p.Gln853Ter) n.108+1964C>T c.2417C>T (p.Thr806Ile) c.2114C>T (p.Thr705Ile) n.2829C>T n.2472C>T
19	g.11129619A=	CA2322780304	LDLR	c.2754A= (p.Thr918=) c.565A= (n.565A=) c.2376A= (p.Thr792=) c.2496A= (p.Thr832=) c.2750A= c.1992A= (p.Thr664=) c.2373A= (p.Thr791=) c.1962A= (p.Thr654=) c.2558A= (p.Gln853=) n.108+1965A= c.2418A= (p.Thr806=) c.2115A= (p.Thr705=) n.2830A= n.2473A=
19	g.11129619A>C	CA404099454	LDLR	c.2754A>C (p.Thr918=) c.565A>C (n.565A>C) c.2376A>C (p.Thr792=) c.2496A>C (p.Thr832=) c.2750A>C c.1992A>C (p.Thr664=) c.2373A>C (p.Thr791=) c.1962A>C (p.Thr654=) c.2558A>C (p.Gln853Pro) n.108+1965A>C c.2418A>C (p.Thr806=) c.2115A>C (p.Thr705=) n.2830A>C n.2473A>C
19	g.11129619A>G	CA404099460	LDLR	c.2754A>G (p.Thr918=) c.565A>G (n.565A>G) c.2376A>G (p.Thr792=) c.2496A>G (p.Thr832=) c.2750A>G c.1992A>G (p.Thr664=) c.2373A>G (p.Thr791=) c.1962A>G (p.Thr654=) c.2558A>G (p.Gln853Arg) n.108+1965A>G c.2418A>G (p.Thr806=) c.2115A>G (p.Thr705=) n.2830A>G n.2473A>G	ClinVar dbSNP gnomAD v4
19	g.11129619A>T	CA404099462	LDLR	c.2754A>T (p.Thr918=) c.565A>T (n.565A>T) c.2376A>T (p.Thr792=) c.2496A>T (p.Thr832=) c.2750A>T c.1992A>T (p.Thr664=) c.2373A>T (p.Thr791=) c.1962A>T (p.Thr654=) c.2558A>T (p.Gln853Leu) n.108+1965A>T c.2418A>T (p.Thr806=) c.2115A>T (p.Thr705=) n.2830A>T n.2473A>T
19	g.11129620G>A	CA404099465	LDLR	c.2755G>A (p.Glu919Lys) c.566G>A (n.566G>A) c.2377G>A (p.Glu793Lys) c.2497G>A (p.Glu833Lys) c.2751G>A c.1993G>A (p.Glu665Lys) c.2374G>A (p.Glu792Lys) c.1963G>A (p.Glu655Lys) c.2559G>A (p.Gln853=) n.108+1966G>A c.2419G>A (p.Glu807Lys) c.2116G>A (p.Glu706Lys) n.2831G>A n.2474G>A	ClinVar dbSNP
19	g.11129620G>C	CA404099468	LDLR	c.2755G>C (p.Glu919Gln) c.566G>C (n.566G>C) c.2377G>C (p.Glu793Gln) c.2497G>C (p.Glu833Gln) c.2751G>C c.1993G>C (p.Glu665Gln) c.2374G>C (p.Glu792Gln) c.1963G>C (p.Glu655Gln) c.2559G>C (p.Gln853His) n.108+1966G>C c.2419G>C (p.Glu807Gln) c.2116G>C (p.Glu706Gln) n.2831G>C n.2474G>C
19	g.11129620G=	CA2322780305	LDLR	c.2755G= (p.Glu919=) c.566G= (n.566G=) c.2377G= (p.Glu793=) c.2497G= (p.Glu833=) c.2751G= c.1993G= (p.Glu665=) c.2374G= (p.Glu792=) c.1963G= (p.Glu655=) c.2559G= (p.Gln853=) n.108+1966G= c.2419G= (p.Glu807=) c.2116G= (p.Glu706=) n.2831G= n.2474G=
19	g.11129620G>T	CA404099470	LDLR	c.2755G>T (p.Glu919Ter) c.566G>T (n.566G>T) c.2377G>T (p.Glu793Ter) c.2497G>T (p.Glu833Ter) c.2751G>T c.1993G>T (p.Glu665Ter) c.2374G>T (p.Glu792Ter) c.1963G>T (p.Glu655Ter) c.2559G>T (p.Gln853His) n.108+1966G>T c.2419G>T (p.Glu807Ter) c.2116G>T (p.Glu706Ter) n.2831G>T n.2474G>T	dbSNP
19	g.11129621A=	CA2322780306	LDLR	c.2756A= (p.Glu919=) c.567A= (n.567A=) c.2378A= (p.Glu793=) c.2498A= (p.Glu833=) c.2752A= c.1994A= (p.Glu665=) c.2375A= (p.Glu792=) c.1964A= (p.Glu655=) c.2560A= (p.Arg854=) n.108+1967A= c.2420A= (p.Glu807=) c.2117A= (p.Glu706=) n.2832A= n.2475A=
19	g.11129621A>C	CA404099473	LDLR	c.2756A>C (p.Glu919Ala) c.567A>C (n.567A>C) c.2378A>C (p.Glu793Ala) c.2498A>C (p.Glu833Ala) c.2752A>C c.1994A>C (p.Glu665Ala) c.2375A>C (p.Glu792Ala) c.1964A>C (p.Glu655Ala) c.2560A>C (p.Arg854=) n.108+1967A>C c.2420A>C (p.Glu807Ala) c.2117A>C (p.Glu706Ala) n.2832A>C n.2475A>C
19	g.11129621A>G	CA404099478	LDLR	c.2756A>G (p.Glu919Gly) c.567A>G (n.567A>G) c.2378A>G (p.Glu793Gly) c.2498A>G (p.Glu833Gly) c.2752A>G c.1994A>G (p.Glu665Gly) c.2375A>G (p.Glu792Gly) c.1964A>G (p.Glu655Gly) c.2560A>G (p.Arg854Gly) n.108+1967A>G c.2420A>G (p.Glu807Gly) c.2117A>G (p.Glu706Gly) n.2832A>G n.2475A>G	dbSNP gnomAD v2
19	g.11129621A>T	CA404099481	LDLR	c.2756A>T (p.Glu919Val) c.567A>T (n.567A>T) c.2378A>T (p.Glu793Val) c.2498A>T (p.Glu833Val) c.2752A>T c.1994A>T (p.Glu665Val) c.2375A>T (p.Glu792Val) c.1964A>T (p.Glu655Val) c.2560A>T (p.Arg854Trp) n.108+1967A>T c.2420A>T (p.Glu807Val) c.2117A>T (p.Glu706Val) n.2832A>T n.2475A>T
19	g.11129621_11129622delinsAG	CA2322780307	LDLR	c.2756_2757delinsAG (p.Glu919=) c.567_568delinsAG (n.567_568delinsAG) c.2378_2379delinsAG (p.Glu793=) c.2498_2499delinsAG (p.Glu833=) c.2752_2753delinsAG c.1994_1995delinsAG (p.Glu665=) c.2375_2376delinsAG (p.Glu792=) c.1964_1965delinsAG (p.Glu655=) c.2560_2561delinsAG (p.Arg854=) n.108+1967_108+1968delinsAG c.2420_2421delinsAG (p.Glu807=) c.2117_2118delinsAG (p.Glu706=) n.2832_2833delinsAG n.2475_2476delinsAG
19	g.11129622G>A	CA404099485	LDLR	c.2757G>A (p.Glu919=) c.568G>A (n.568G>A) c.2379G>A (p.Glu793=) c.2499G>A (p.Glu833=) c.2753G>A c.1995G>A (p.Glu665=) c.2376G>A (p.Glu792=) c.1965G>A (p.Glu655=) c.2561G>A (p.Arg854Lys) n.108+1968G>A c.2421G>A (p.Glu807=) c.2118G>A (p.Glu706=) n.2833G>A n.2476G>A	dbSNP
19	g.11129622G>C	CA404099486	LDLR	c.2757G>C (p.Glu919Asp) c.568G>C (n.568G>C) c.2379G>C (p.Glu793Asp) c.2499G>C (p.Glu833Asp) c.2753G>C c.1995G>C (p.Glu665Asp) c.2376G>C (p.Glu792Asp) c.1965G>C (p.Glu655Asp) c.2561G>C (p.Arg854Thr) n.108+1968G>C c.2421G>C (p.Glu807Asp) c.2118G>C (p.Glu706Asp) n.2833G>C n.2476G>C
19	g.11129622G=	CA2322780308	LDLR	c.2757G= (p.Glu919=) c.568G= (n.568G=) c.2379G= (p.Glu793=) c.2499G= (p.Glu833=) c.2753G= c.1995G= (p.Glu665=) c.2376G= (p.Glu792=) c.1965G= (p.Glu655=) c.2561G= (p.Arg854=) n.108+1968G= c.2421G= (p.Glu807=) c.2118G= (p.Glu706=) n.2833G= n.2476G=
19	g.11129622G>T	CA040880	LDLR	c.2757G>T (p.Glu919Asp) c.568G>T (n.568G>T) c.2379G>T (p.Glu793Asp) c.2499G>T (p.Glu833Asp) c.2753G>T c.1995G>T (p.Glu665Asp) c.2376G>T (p.Glu792Asp) c.1965G>T (p.Glu655Asp) c.2561G>T (p.Arg854Met) n.108+1968G>T c.2421G>T (p.Glu807Asp) c.2118G>T (p.Glu706Asp) n.2833G>T n.2476G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129623del	CA645509303	LDLR	c.2758del (p.Asp920MetfsTer?) c.569del (n.569del) c.2380del (p.Asp794MetfsTer?) c.2500del (p.Asp834MetfsTer?) c.2754del c.1996del (p.Asp666MetfsTer?) c.2377del (p.Asp793MetfsTer?) c.1966del (p.Asp656MetfsTer?) c.2562del (p.Met855Ter) n.108+1969del c.2422del (p.Asp808MetfsTer?) c.2119del (p.Asp707MetfsTer?) n.2834del n.2477del	ClinVar dbSNP
19	g.11129622_11129625delinsGGAT	CA2322780309	LDLR	c.2757_2760delinsGGAT (p.Glu919=) c.568_571delinsGGAT (n.568_571delinsGGAT) c.2379_2382delinsGGAT (p.Glu793=) c.2499_2502delinsGGAT (p.Glu833=) c.2753_2756delinsGGAT c.1995_1998delinsGGAT (p.Glu665=) c.2376_2379delinsGGAT (p.Glu792=) c.1965_1968delinsGGAT (p.Glu655=) c.2561_2564delinsGGAT (p.Arg854=) n.108+1968_108+1971delinsGGAT c.2421_2424delinsGGAT (p.Glu807=) c.2118_2121delinsGGAT (p.Glu706=) n.2833_2836delinsGGAT n.2476_2479delinsGGAT
19	g.11129623G>A	CA404099497	LDLR	c.2758G>A (p.Asp920Asn) c.569G>A (n.569G>A) c.2380G>A (p.Asp794Asn) c.2500G>A (p.Asp834Asn) c.2754G>A c.1996G>A (p.Asp666Asn) c.2377G>A (p.Asp793Asn) c.1966G>A (p.Asp656Asn) c.2562G>A (p.Arg854=) n.108+1969G>A c.2422G>A (p.Asp808Asn) c.2119G>A (p.Asp707Asn) n.2834G>A n.2477G>A	gnomAD v4
19	g.11129623G>C	CA404099494	LDLR	c.2758G>C (p.Asp920His) c.569G>C (n.569G>C) c.2380G>C (p.Asp794His) c.2500G>C (p.Asp834His) c.2754G>C c.1996G>C (p.Asp666His) c.2377G>C (p.Asp793His) c.1966G>C (p.Asp656His) c.2562G>C (p.Arg854Ser) n.108+1969G>C c.2422G>C (p.Asp808His) c.2119G>C (p.Asp707His) n.2834G>C n.2477G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11129623G=	CA2322780310	LDLR	c.2758G= (p.Asp920=) c.569G= (n.569G=) c.2380G= (p.Asp794=) c.2500G= (p.Asp834=) c.2754G= c.1996G= (p.Asp666=) c.2377G= (p.Asp793=) c.1966G= (p.Asp656=) c.2562G= (p.Arg854=) n.108+1969G= c.2422G= (p.Asp808=) c.2119G= (p.Asp707=) n.2834G= n.2477G=
19	g.11129623G>T	CA404099489	LDLR	c.2758G>T (p.Asp920Tyr) c.569G>T (n.569G>T) c.2380G>T (p.Asp794Tyr) c.2500G>T (p.Asp834Tyr) c.2754G>T c.1996G>T (p.Asp666Tyr) c.2377G>T (p.Asp793Tyr) c.1966G>T (p.Asp656Tyr) c.2562G>T (p.Arg854Ser) n.108+1969G>T c.2422G>T (p.Asp808Tyr) c.2119G>T (p.Asp707Tyr) n.2834G>T n.2477G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129623_11129625delinsC	CA10585874	LDLR	c.2758_2760delinsC (p.Asp920ArgfsTer24) c.569_571delinsC (n.569_571delinsC) c.2380_2382delinsC (p.Asp794ArgfsTer24) c.2500_2502delinsC (p.Asp834ArgfsTer24) c.2754_2756delinsC c.1996_1998delinsC (p.Asp666ArgfsTer24) c.2377_2379delinsC (p.Asp793ArgfsTer24) c.1966_1968delinsC (p.Asp656ArgfsTer24) c.2562_2564delinsC (p.Arg854SerfsTer28) c.2500_2502delinsC (p.Asp834ArgfsTer22) n.108+1969_108+1971delinsC c.2422_2424delinsC (p.Asp808ArgfsTer24) c.2119_2121delinsC (p.Asp707ArgfsTer24) n.2834_2836delinsC n.2477_2479delinsC	ClinVar dbSNP
19	g.11129624A>C	CA404099501	LDLR	c.2759A>C (p.Asp920Ala) c.570A>C (n.570A>C) c.2381A>C (p.Asp794Ala) c.2501A>C (p.Asp834Ala) c.2755A>C c.1997A>C (p.Asp666Ala) c.2378A>C (p.Asp793Ala) c.1967A>C (p.Asp656Ala) c.2563A>C (p.Met855Leu) n.108+1970A>C c.2423A>C (p.Asp808Ala) c.2120A>C (p.Asp707Ala) n.2835A>C n.2478A>C
19	g.11129624A>G	CA404099503	LDLR	c.2759A>G (p.Asp920Gly) c.570A>G (n.570A>G) c.2381A>G (p.Asp794Gly) c.2501A>G (p.Asp834Gly) c.2755A>G c.1997A>G (p.Asp666Gly) c.2378A>G (p.Asp793Gly) c.1967A>G (p.Asp656Gly) c.2563A>G (p.Met855Val) n.108+1970A>G c.2423A>G (p.Asp808Gly) c.2120A>G (p.Asp707Gly) n.2835A>G n.2478A>G
19	g.11129624A>T	CA404099511	LDLR	c.2759A>T (p.Asp920Val) c.570A>T (n.570A>T) c.2381A>T (p.Asp794Val) c.2501A>T (p.Asp834Val) c.2755A>T c.1997A>T (p.Asp666Val) c.2378A>T (p.Asp793Val) c.1967A>T (p.Asp656Val) c.2563A>T (p.Met855Leu) n.108+1970A>T c.2423A>T (p.Asp808Val) c.2120A>T (p.Asp707Val) n.2835A>T n.2478A>T
19	g.11129625T>A	CA404099515	LDLR	c.2760T>A (p.Asp920Glu) c.571T>A (n.571T>A) c.2382T>A (p.Asp794Glu) c.2502T>A (p.Asp834Glu) c.2756T>A c.1998T>A (p.Asp666Glu) c.2379T>A (p.Asp793Glu) c.1968T>A (p.Asp656Glu) c.2564T>A (p.Met855Lys) n.108+1971T>A c.2424T>A (p.Asp808Glu) c.2121T>A (p.Asp707Glu) n.2836T>A n.2479T>A	gnomAD v4
19	g.11129625T>C	CA404099517	LDLR	c.2760T>C (p.Asp920=) c.571T>C (n.571T>C) c.2382T>C (p.Asp794=) c.2502T>C (p.Asp834=) c.2756T>C c.1998T>C (p.Asp666=) c.2379T>C (p.Asp793=) c.1968T>C (p.Asp656=) c.2564T>C (p.Met855Thr) n.108+1971T>C c.2424T>C (p.Asp808=) c.2121T>C (p.Asp707=) n.2836T>C n.2479T>C
19	g.11129625T>G	CA404099521	LDLR	c.2760T>G (p.Asp920Glu) c.571T>G (n.571T>G) c.2382T>G (p.Asp794Glu) c.2502T>G (p.Asp834Glu) c.2756T>G c.1998T>G (p.Asp666Glu) c.2379T>G (p.Asp793Glu) c.1968T>G (p.Asp656Glu) c.2564T>G (p.Met855Arg) n.108+1971T>G c.2424T>G (p.Asp808Glu) c.2121T>G (p.Asp707Glu) n.2836T>G n.2479T>G
19	g.11129625dup	CA2580096346	LDLR	c.2760dup (p.Glu921Ter) c.571dup (n.571dup) c.2382dup (p.Glu795Ter) c.2502dup (p.Glu835Ter) c.2756dup c.1998dup (p.Glu667Ter) c.2379dup (p.Glu794Ter) c.1968dup (p.Glu657Ter) c.2564dup (p.Met855IlefsTer28) n.108+1971dup c.2424dup (p.Glu809Ter) c.2121dup (p.Glu708Ter) n.2836dup n.2479dup	ClinVar
19	g.11129626G>A	CA404099523	LDLR	c.2761G>A (p.Glu921Lys) c.572G>A (n.572G>A) c.2383G>A (p.Glu795Lys) c.2503G>A (p.Glu835Lys) c.2757G>A c.1999G>A (p.Glu667Lys) c.2380G>A (p.Glu794Lys) c.1969G>A (p.Glu657Lys) c.2565G>A (p.Met855Ile) n.108+1972G>A c.2425G>A (p.Glu809Lys) c.2122G>A (p.Glu708Lys) n.2837G>A n.2480G>A
19	g.11129626G>C	CA404099525	LDLR	c.2761G>C (p.Glu921Gln) c.572G>C (n.572G>C) c.2383G>C (p.Glu795Gln) c.2503G>C (p.Glu835Gln) c.2757G>C c.1999G>C (p.Glu667Gln) c.2380G>C (p.Glu794Gln) c.1969G>C (p.Glu657Gln) c.2565G>C (p.Met855Ile) n.108+1972G>C c.2425G>C (p.Glu809Gln) c.2122G>C (p.Glu708Gln) n.2837G>C n.2480G>C
19	g.11129626G>T	CA404099526	LDLR	c.2761G>T (p.Glu921Ter) c.572G>T (n.572G>T) c.2383G>T (p.Glu795Ter) c.2503G>T (p.Glu835Ter) c.2757G>T c.1999G>T (p.Glu667Ter) c.2380G>T (p.Glu794Ter) c.1969G>T (p.Glu657Ter) c.2565G>T (p.Met855Ile) n.108+1972G>T c.2425G>T (p.Glu809Ter) c.2122G>T (p.Glu708Ter) n.2837G>T n.2480G>T
19	g.11129627A=	CA2322780311	LDLR	c.2762A= (p.Glu921=) c.573A= (n.573A=) c.2384A= (p.Glu795=) c.2504A= (p.Glu835=) c.2758A= c.2000A= (p.Glu667=) c.2381A= (p.Glu794=) c.1970A= (p.Glu657=) c.2566A= (p.Arg856=) n.108+1973A= c.2426A= (p.Glu809=) c.2123A= (p.Glu708=) n.2838A= n.2481A=
19	g.11129627A>C	CA040890	LDLR	c.2762A>C (p.Glu921Ala) c.573A>C (n.573A>C) c.2384A>C (p.Glu795Ala) c.2504A>C (p.Glu835Ala) c.2758A>C c.2000A>C (p.Glu667Ala) c.2381A>C (p.Glu794Ala) c.1970A>C (p.Glu657Ala) c.2566A>C (p.Arg856=) n.108+1973A>C c.2426A>C (p.Glu809Ala) c.2123A>C (p.Glu708Ala) n.2838A>C n.2481A>C	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129627A>G	CA404099527	LDLR	c.2762A>G (p.Glu921Gly) c.573A>G (n.573A>G) c.2384A>G (p.Glu795Gly) c.2504A>G (p.Glu835Gly) c.2758A>G c.2000A>G (p.Glu667Gly) c.2381A>G (p.Glu794Gly) c.1970A>G (p.Glu657Gly) c.2566A>G (p.Arg856Gly) n.108+1973A>G c.2426A>G (p.Glu809Gly) c.2123A>G (p.Glu708Gly) n.2838A>G n.2481A>G
19	g.11129627A>T	CA404099531	LDLR	c.2762A>T (p.Glu921Val) c.573A>T (n.573A>T) c.2384A>T (p.Glu795Val) c.2504A>T (p.Glu835Val) c.2758A>T c.2000A>T (p.Glu667Val) c.2381A>T (p.Glu794Val) c.1970A>T (p.Glu657Val) c.2566A>T (p.Arg856Trp) n.108+1973A>T c.2426A>T (p.Glu809Val) c.2123A>T (p.Glu708Val) n.2838A>T n.2481A>T
19	g.11129628G>A	CA404099534	LDLR	c.2763G>A (p.Glu921=) c.574G>A (n.574G>A) c.2385G>A (p.Glu795=) c.2505G>A (p.Glu835=) c.2759G>A c.2001G>A (p.Glu667=) c.2382G>A (p.Glu794=) c.1971G>A (p.Glu657=) c.2567G>A (p.Arg856Lys) n.108+1974G>A c.2427G>A (p.Glu809=) c.2124G>A (p.Glu708=) n.2839G>A n.2482G>A
19	g.11129628G>C	CA404099536	LDLR	c.2763G>C (p.Glu921Asp) c.574G>C (n.574G>C) c.2385G>C (p.Glu795Asp) c.2505G>C (p.Glu835Asp) c.2759G>C c.2001G>C (p.Glu667Asp) c.2382G>C (p.Glu794Asp) c.1971G>C (p.Glu657Asp) c.2567G>C (p.Arg856Thr) n.108+1974G>C c.2427G>C (p.Glu809Asp) c.2124G>C (p.Glu708Asp) n.2839G>C n.2482G>C
19	g.11129628G>T	CA404099538	LDLR	c.2763G>T (p.Glu921Asp) c.574G>T (n.574G>T) c.2385G>T (p.Glu795Asp) c.2505G>T (p.Glu835Asp) c.2759G>T c.2001G>T (p.Glu667Asp) c.2382G>T (p.Glu794Asp) c.1971G>T (p.Glu657Asp) c.2567G>T (p.Arg856Met) n.108+1974G>T c.2427G>T (p.Glu809Asp) c.2124G>T (p.Glu708Asp) n.2839G>T n.2482G>T
19	g.11129629G>A	CA10585875	LDLR	c.2764G>A (p.Val922Ile) c.575G>A (n.575G>A) c.2386G>A (p.Val796Ile) c.2506G>A (p.Val836Ile) c.2760G>A c.2002G>A (p.Val668Ile) c.2383G>A (p.Val795Ile) c.1972G>A (p.Val658Ile) c.2568G>A (p.Arg856=) n.108+1975G>A c.2428G>A (p.Val810Ile) c.2125G>A (p.Val709Ile) n.2840G>A n.2483G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11129629G>C	CA404099549	LDLR	c.2764G>C (p.Val922Leu) c.575G>C (n.575G>C) c.2386G>C (p.Val796Leu) c.2506G>C (p.Val836Leu) c.2760G>C c.2002G>C (p.Val668Leu) c.2383G>C (p.Val795Leu) c.1972G>C (p.Val658Leu) c.2568G>C (p.Arg856Ser) n.108+1975G>C c.2428G>C (p.Val810Leu) c.2125G>C (p.Val709Leu) n.2840G>C n.2483G>C
19	g.11129629G=	CA2322780312	LDLR	c.2764G= (p.Val922=) c.575G= (n.575G=) c.2386G= (p.Val796=) c.2506G= (p.Val836=) c.2760G= c.2002G= (p.Val668=) c.2383G= (p.Val795=) c.1972G= (p.Val658=) c.2568G= (p.Arg856=) n.108+1975G= c.2428G= (p.Val810=) c.2125G= (p.Val709=) n.2840G= n.2483G=
19	g.11129629G>T	CA404099542	LDLR	c.2764G>T (p.Val922Phe) c.575G>T (n.575G>T) c.2386G>T (p.Val796Phe) c.2506G>T (p.Val836Phe) c.2760G>T c.2002G>T (p.Val668Phe) c.2383G>T (p.Val795Phe) c.1972G>T (p.Val658Phe) c.2568G>T (p.Arg856Ser) n.108+1975G>T c.2428G>T (p.Val810Phe) c.2125G>T (p.Val709Phe) n.2840G>T n.2483G>T
19	g.11129630T>A	CA404099552	LDLR	c.2765T>A (p.Val922Asp) c.576T>A (n.576T>A) c.2387T>A (p.Val796Asp) c.2507T>A (p.Val836Asp) c.2761T>A c.2003T>A (p.Val668Asp) c.2384T>A (p.Val795Asp) c.1973T>A (p.Val658Asp) c.2569T>A (p.Ser857Thr) n.108+1976T>A c.2429T>A (p.Val810Asp) c.2126T>A (p.Val709Asp) n.2841T>A n.2484T>A
19	g.11129630T>C	CA404099554	LDLR	c.2765T>C (p.Val922Ala) c.576T>C (n.576T>C) c.2387T>C (p.Val796Ala) c.2507T>C (p.Val836Ala) c.2761T>C c.2003T>C (p.Val668Ala) c.2384T>C (p.Val795Ala) c.1973T>C (p.Val658Ala) c.2569T>C (p.Ser857Pro) n.108+1976T>C c.2429T>C (p.Val810Ala) c.2126T>C (p.Val709Ala) n.2841T>C n.2484T>C
19	g.11129630T>G	CA404099555	LDLR	c.2765T>G (p.Val922Gly) c.576T>G (n.576T>G) c.2387T>G (p.Val796Gly) c.2507T>G (p.Val836Gly) c.2761T>G c.2003T>G (p.Val668Gly) c.2384T>G (p.Val795Gly) c.1973T>G (p.Val658Gly) c.2569T>G (p.Ser857Ala) n.108+1976T>G c.2429T>G (p.Val810Gly) c.2126T>G (p.Val709Gly) n.2841T>G n.2484T>G
19	g.11129630_11129631delinsTC	CA2322780313	LDLR	c.2765_2766delinsTC (p.Val922=) c.576_577delinsTC (n.576_577delinsTC) c.2387_2388delinsTC (p.Val796=) c.2507_2508delinsTC (p.Val836=) c.2761_2762delinsTC c.2003_2004delinsTC (p.Val668=) c.2384_2385delinsTC (p.Val795=) c.1973_1974delinsTC (p.Val658=) c.2569_2570delinsTC (p.Ser857=) n.108+1976_108+1977delinsTC c.2429_2430delinsTC (p.Val810=) c.2126_2127delinsTC (p.Val709=) n.2841_2842delinsTC n.2484_2485delinsTC
19	g.11129631C>A	CA404099561	LDLR	c.2766C>A (p.Val922=) c.577C>A (n.577C>A) c.2388C>A (p.Val796=) c.2508C>A (p.Val836=) c.2762C>A c.2004C>A (p.Val668=) c.2385C>A (p.Val795=) c.1974C>A (p.Val658=) c.2570C>A (p.Ser857Tyr) n.108+1977C>A c.2430C>A (p.Val810=) c.2127C>A (p.Val709=) n.2842C>A n.2485C>A
19	g.11129631C=	CA2322780314	LDLR	c.2766C= (p.Val922=) c.577C= (n.577C=) c.2388C= (p.Val796=) c.2508C= (p.Val836=) c.2762C= c.2004C= (p.Val668=) c.2385C= (p.Val795=) c.1974C= (p.Val658=) c.2570C= (p.Ser857=) n.108+1977C= c.2430C= (p.Val810=) c.2127C= (p.Val709=) n.2842C= n.2485C=
19	g.11129631C>G	CA404099564	LDLR	c.2766C>G (p.Val922=) c.577C>G (n.577C>G) c.2388C>G (p.Val796=) c.2508C>G (p.Val836=) c.2762C>G c.2004C>G (p.Val668=) c.2385C>G (p.Val795=) c.1974C>G (p.Val658=) c.2570C>G (p.Ser857Cys) n.108+1977C>G c.2430C>G (p.Val810=) c.2127C>G (p.Val709=) n.2842C>G n.2485C>G
19	g.11129631C>T	CA404099565	LDLR	c.2766C>T (p.Val922=) c.577C>T (n.577C>T) c.2388C>T (p.Val796=) c.2508C>T (p.Val836=) c.2762C>T c.2004C>T (p.Val668=) c.2385C>T (p.Val795=) c.1974C>T (p.Val658=) c.2570C>T (p.Ser857Phe) n.108+1977C>T c.2430C>T (p.Val810=) c.2127C>T (p.Val709=) n.2842C>T n.2485C>T	ClinVar dbSNP
19	g.11129632del	CA10585876	LDLR	c.2767del (p.His923ThrfsTer?) c.578del (n.578del) c.2389del (p.His797ThrfsTer?) c.2509del (p.His837ThrfsTer?) c.2763del c.2005del (p.His669ThrfsTer?) c.2386del (p.His796ThrfsTer?) c.1975del (p.His659ThrfsTer?) c.2571del (p.Thr858HisfsTer21) n.108+1978del c.2431del (p.His811ThrfsTer?) c.2128del (p.His710ThrfsTer?) n.2843del n.2486del	ClinVar dbSNP
19	g.11129632C>A	CA404099568	LDLR	c.2767C>A (p.His923Asn) c.578C>A (n.578C>A) c.2389C>A (p.His797Asn) c.2509C>A (p.His837Asn) c.2763C>A c.2005C>A (p.His669Asn) c.2386C>A (p.His796Asn) c.1975C>A (p.His659Asn) c.2571C>A (p.Ser857=) n.108+1978C>A c.2431C>A (p.His811Asn) c.2128C>A (p.His710Asn) n.2843C>A n.2486C>A
19	g.11129632C=	CA2322780315	LDLR	c.2767C= (p.His923=) c.578C= (n.578C=) c.2389C= (p.His797=) c.2509C= (p.His837=) c.2763C= c.2005C= (p.His669=) c.2386C= (p.His796=) c.1975C= (p.His659=) c.2571C= (p.Ser857=) n.108+1978C= c.2431C= (p.His811=) c.2128C= (p.His710=) n.2843C= n.2486C=
19	g.11129632C>G	CA404099570	LDLR	c.2767C>G (p.His923Asp) c.578C>G (n.578C>G) c.2389C>G (p.His797Asp) c.2509C>G (p.His837Asp) c.2763C>G c.2005C>G (p.His669Asp) c.2386C>G (p.His796Asp) c.1975C>G (p.His659Asp) c.2571C>G (p.Ser857=) n.108+1978C>G c.2431C>G (p.His811Asp) c.2128C>G (p.His710Asp) n.2843C>G n.2486C>G
19	g.11129632C>T	CA404099571	LDLR	c.2767C>T (p.His923Tyr) c.578C>T (n.578C>T) c.2389C>T (p.His797Tyr) c.2509C>T (p.His837Tyr) c.2763C>T c.2005C>T (p.His669Tyr) c.2386C>T (p.His796Tyr) c.1975C>T (p.His659Tyr) c.2571C>T (p.Ser857=) n.108+1978C>T c.2431C>T (p.His811Tyr) c.2128C>T (p.His710Tyr) n.2843C>T n.2486C>T	dbSNP gnomAD v3 gnomAD v4
19	g.11129633A=	CA2322780316	LDLR	c.2768A= (p.His923=) c.579A= (n.579A=) c.2390A= (p.His797=) c.2510A= (p.His837=) c.2764A= c.2006A= (p.His669=) c.2387A= (p.His796=) c.1976A= (p.His659=) c.2572A= (p.Thr858=) n.108+1979A= c.2432A= (p.His811=) c.2129A= (p.His710=) n.2844A= n.2487A=
19	g.11129633A>C	CA404099574	LDLR	c.2768A>C (p.His923Pro) c.579A>C (n.579A>C) c.2390A>C (p.His797Pro) c.2510A>C (p.His837Pro) c.2764A>C c.2006A>C (p.His669Pro) c.2387A>C (p.His796Pro) c.1976A>C (p.His659Pro) c.2572A>C (p.Thr858Pro) n.108+1979A>C c.2432A>C (p.His811Pro) c.2129A>C (p.His710Pro) n.2844A>C n.2487A>C
19	g.11129633A>G	CA040902	LDLR	c.2768A>G (p.His923Arg) c.579A>G (n.579A>G) c.2390A>G (p.His797Arg) c.2510A>G (p.His837Arg) c.2764A>G c.2006A>G (p.His669Arg) c.2387A>G (p.His796Arg) c.1976A>G (p.His659Arg) c.2572A>G (p.Thr858Ala) n.108+1979A>G c.2432A>G (p.His811Arg) c.2129A>G (p.His710Arg) n.2844A>G n.2487A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129633A>T	CA404099578	LDLR	c.2768A>T (p.His923Leu) c.579A>T (n.579A>T) c.2390A>T (p.His797Leu) c.2510A>T (p.His837Leu) c.2764A>T c.2006A>T (p.His669Leu) c.2387A>T (p.His796Leu) c.1976A>T (p.His659Leu) c.2572A>T (p.Thr858Ser) n.108+1979A>T c.2432A>T (p.His811Leu) c.2129A>T (p.His710Leu) n.2844A>T n.2487A>T
19	g.11129634C>A	CA404099601	LDLR	c.2769C>A (p.His923Gln) c.580C>A (n.580C>A) c.2391C>A (p.His797Gln) c.2511C>A (p.His837Gln) c.2765C>A c.2007C>A (p.His669Gln) c.2388C>A (p.His796Gln) c.1977C>A (p.His659Gln) c.2573C>A (p.Thr858Lys) n.108+1980C>A c.2433C>A (p.His811Gln) c.2130C>A (p.His710Gln) n.2845C>A n.2488C>A
19	g.11129634C>G	CA404099596	LDLR	c.2769C>G (p.His923Gln) c.580C>G (n.580C>G) c.2391C>G (p.His797Gln) c.2511C>G (p.His837Gln) c.2765C>G c.2007C>G (p.His669Gln) c.2388C>G (p.His796Gln) c.1977C>G (p.His659Gln) c.2573C>G (p.Thr858Arg) n.108+1980C>G c.2433C>G (p.His811Gln) c.2130C>G (p.His710Gln) n.2845C>G n.2488C>G
19	g.11129634C>T	CA404099599	LDLR	c.2769C>T (p.His923=) c.580C>T (n.580C>T) c.2391C>T (p.His797=) c.2511C>T (p.His837=) c.2765C>T c.2007C>T (p.His669=) c.2388C>T (p.His796=) c.1977C>T (p.His659=) c.2573C>T (p.Thr858Ile) n.108+1980C>T c.2433C>T (p.His811=) c.2130C>T (p.His710=) n.2845C>T n.2488C>T	ClinVar
19	g.11129634_11129635insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG	CA2813590281	LDLR	c.2769_2770insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile924GlyfsTer52) c.580_581insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (n.580_581insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG) c.2391_2392insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile798GlyfsTer52) c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile838GlyfsTer52) c.2765_2766insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG c.2007_2008insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile670GlyfsTer52) c.2388_2389insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile797GlyfsTer52) c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile660GlyfsTer52) c.2573_2574insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Phe859GlyfsTer55) c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile838GlyfsTer50) n.108+1980_108+1981insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG c.2433_2434insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile812GlyfsTer52) c.2130_2131insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG (p.Ile711GlyfsTer52) n.2845_2846insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG n.2488_2489insGGGACTATCGCCGATGCTATCTATCGAGGCGGGCGTATGCTCCATGAGCACGACGGGGCCGCGCAAGGGATCCGCTTCGTTGGCAATGACTTCG
19	g.11129635A=	CA2322780317	LDLR	c.2770A= (p.Ile924=) c.581A= (n.581A=) c.2392A= (p.Ile798=) c.2512A= (p.Ile838=) c.2766A= c.2008A= (p.Ile670=) c.2389A= (p.Ile797=) c.1978A= (p.Ile660=) c.2574A= (p.Thr858=) n.108+1981A= c.2434A= (p.Ile812=) c.2131A= (p.Ile711=) n.2846A= n.2489A=
19	g.11129635A>C	CA404099605	LDLR	c.2770A>C (p.Ile924Leu) c.581A>C (n.581A>C) c.2392A>C (p.Ile798Leu) c.2512A>C (p.Ile838Leu) c.2766A>C c.2008A>C (p.Ile670Leu) c.2389A>C (p.Ile797Leu) c.1978A>C (p.Ile660Leu) c.2574A>C (p.Thr858=) n.108+1981A>C c.2434A>C (p.Ile812Leu) c.2131A>C (p.Ile711Leu) n.2846A>C n.2489A>C
19	g.11129635A>G	CA404099612	LDLR	c.2770A>G (p.Ile924Val) c.581A>G (n.581A>G) c.2392A>G (p.Ile798Val) c.2512A>G (p.Ile838Val) c.2766A>G c.2008A>G (p.Ile670Val) c.2389A>G (p.Ile797Val) c.1978A>G (p.Ile660Val) c.2574A>G (p.Thr858=) n.108+1981A>G c.2434A>G (p.Ile812Val) c.2131A>G (p.Ile711Val) n.2846A>G n.2489A>G	ClinVar dbSNP gnomAD v4
19	g.11129635A>T	CA404099615	LDLR	c.2770A>T (p.Ile924Phe) c.581A>T (n.581A>T) c.2392A>T (p.Ile798Phe) c.2512A>T (p.Ile838Phe) c.2766A>T c.2008A>T (p.Ile670Phe) c.2389A>T (p.Ile797Phe) c.1978A>T (p.Ile660Phe) c.2574A>T (p.Thr858=) n.108+1981A>T c.2434A>T (p.Ile812Phe) c.2131A>T (p.Ile711Phe) n.2846A>T n.2489A>T
19	g.11129636T>A	CA404099618	LDLR	c.2771T>A (p.Ile924Asn) c.582T>A (n.582T>A) c.2393T>A (p.Ile798Asn) c.2513T>A (p.Ile838Asn) c.2767T>A c.2009T>A (p.Ile670Asn) c.2390T>A (p.Ile797Asn) c.1979T>A (p.Ile660Asn) c.2575T>A (p.Phe859Ile) n.108+1982T>A c.2435T>A (p.Ile812Asn) c.2132T>A (p.Ile711Asn) n.2847T>A n.2490T>A
19	g.11129636T>C	CA404099621	LDLR	c.2771T>C (p.Ile924Thr) c.582T>C (n.582T>C) c.2393T>C (p.Ile798Thr) c.2513T>C (p.Ile838Thr) c.2767T>C c.2009T>C (p.Ile670Thr) c.2390T>C (p.Ile797Thr) c.1979T>C (p.Ile660Thr) c.2575T>C (p.Phe859Leu) n.108+1982T>C c.2435T>C (p.Ile812Thr) c.2132T>C (p.Ile711Thr) n.2847T>C n.2490T>C
19	g.11129636T>G	CA404099623	LDLR	c.2771T>G (p.Ile924Ser) c.582T>G (n.582T>G) c.2393T>G (p.Ile798Ser) c.2513T>G (p.Ile838Ser) c.2767T>G c.2009T>G (p.Ile670Ser) c.2390T>G (p.Ile797Ser) c.1979T>G (p.Ile660Ser) c.2575T>G (p.Phe859Val) n.108+1982T>G c.2435T>G (p.Ile812Ser) c.2132T>G (p.Ile711Ser) n.2847T>G n.2490T>G
19	g.11129637T>A	CA404099627	LDLR	c.2772T>A (p.Ile924=) c.583T>A (n.583T>A) c.2394T>A (p.Ile798=) c.2514T>A (p.Ile838=) c.2768T>A c.2010T>A (p.Ile670=) c.2391T>A (p.Ile797=) c.1980T>A (p.Ile660=) c.2576T>A (p.Phe859Tyr) n.108+1983T>A c.2436T>A (p.Ile812=) c.2133T>A (p.Ile711=) n.2848T>A n.2491T>A	ClinVar dbSNP
19	g.11129637T>C	CA404099639	LDLR	c.2772T>C (p.Ile924=) c.583T>C (n.583T>C) c.2394T>C (p.Ile798=) c.2514T>C (p.Ile838=) c.2768T>C c.2010T>C (p.Ile670=) c.2391T>C (p.Ile797=) c.1980T>C (p.Ile660=) c.2576T>C (p.Phe859Ser) n.108+1983T>C c.2436T>C (p.Ile812=) c.2133T>C (p.Ile711=) n.2848T>C n.2491T>C	dbSNP
19	g.11129637T>G	CA404099641	LDLR	c.2772T>G (p.Ile924Met) c.583T>G (n.583T>G) c.2394T>G (p.Ile798Met) c.2514T>G (p.Ile838Met) c.2768T>G c.2010T>G (p.Ile670Met) c.2391T>G (p.Ile797Met) c.1980T>G (p.Ile660Met) c.2576T>G (p.Phe859Cys) n.108+1983T>G c.2436T>G (p.Ile812Met) c.2133T>G (p.Ile711Met) n.2848T>G n.2491T>G
19	g.11129637T=	CA2322780318	LDLR	c.2772T= (p.Ile924=) c.583T= (n.583T=) c.2394T= (p.Ile798=) c.2514T= (p.Ile838=) c.2768T= c.2010T= (p.Ile670=) c.2391T= (p.Ile797=) c.1980T= (p.Ile660=) c.2576T= (p.Phe859=) n.108+1983T= c.2436T= (p.Ile812=) c.2133T= (p.Ile711=) n.2848T= n.2491T=
19	g.11129637_11129680delinsGG	CA2695202622	LDLR	c.2772_2805+10delinsGG c.583_616+10delinsGG c.2394_2427+10delinsGG c.2514_2547+10delinsGG c.2768_2801+10delinsGG c.2010_2043+10delinsGG c.2391_2424+10delinsGG c.1980_2013+10delinsGG c.2576_2609+10delinsGG n.108+1983_108+2026delinsGG c.2436_2469+10delinsGG c.2133_2166+10delinsGG n.2848_2881+10delinsGG n.2491_2524+10delinsGG
19	g.11129638_11129682del	CA2695202623	LDLR	c.2773_2805+12del c.584_616+12del c.2395_2427+12del c.2515_2547+12del c.2769_2801+12del c.2011_2043+12del c.2392_2424+12del c.1981_2013+12del c.2577_2609+12del n.108+1984_108+2028del c.2437_2469+12del c.2134_2166+12del n.2849_2881+12del n.2492_2524+12del
19	g.11129638T>A	CA404099645	LDLR	c.2773T>A (p.Cys925Ser) c.584T>A (n.584T>A) c.2395T>A (p.Cys799Ser) c.2515T>A (p.Cys839Ser) c.2769T>A c.2011T>A (p.Cys671Ser) c.2392T>A (p.Cys798Ser) c.1981T>A (p.Cys661Ser) c.2577T>A (p.Phe859Leu) n.108+1984T>A c.2437T>A (p.Cys813Ser) c.2134T>A (p.Cys712Ser) n.2849T>A n.2492T>A
19	g.11129638T>C	CA404099647	LDLR	c.2773T>C (p.Cys925Arg) c.584T>C (n.584T>C) c.2395T>C (p.Cys799Arg) c.2515T>C (p.Cys839Arg) c.2769T>C c.2011T>C (p.Cys671Arg) c.2392T>C (p.Cys798Arg) c.1981T>C (p.Cys661Arg) c.2577T>C (p.Phe859=) n.108+1984T>C c.2437T>C (p.Cys813Arg) c.2134T>C (p.Cys712Arg) n.2849T>C n.2492T>C
19	g.11129638T>G	CA404099649	LDLR	c.2773T>G (p.Cys925Gly) c.584T>G (n.584T>G) c.2395T>G (p.Cys799Gly) c.2515T>G (p.Cys839Gly) c.2769T>G c.2011T>G (p.Cys671Gly) c.2392T>G (p.Cys798Gly) c.1981T>G (p.Cys661Gly) c.2577T>G (p.Phe859Leu) n.108+1984T>G c.2437T>G (p.Cys813Gly) c.2134T>G (p.Cys712Gly) n.2849T>G n.2492T>G
19	g.11129639G>A	CA404099653	LDLR	c.2774G>A (p.Cys925Tyr) c.585G>A (n.585G>A) c.2396G>A (p.Cys799Tyr) c.2516G>A (p.Cys839Tyr) c.2770G>A c.2012G>A (p.Cys671Tyr) c.2393G>A (p.Cys798Tyr) c.1982G>A (p.Cys661Tyr) c.2578G>A (p.Ala860Thr) n.108+1985G>A c.2438G>A (p.Cys813Tyr) c.2135G>A (p.Cys712Tyr) n.2850G>A n.2493G>A
19	g.11129639G>C	CA404099658	LDLR	c.2774G>C (p.Cys925Ser) c.585G>C (n.585G>C) c.2396G>C (p.Cys799Ser) c.2516G>C (p.Cys839Ser) c.2770G>C c.2012G>C (p.Cys671Ser) c.2393G>C (p.Cys798Ser) c.1982G>C (p.Cys661Ser) c.2578G>C (p.Ala860Pro) n.108+1985G>C c.2438G>C (p.Cys813Ser) c.2135G>C (p.Cys712Ser) n.2850G>C n.2493G>C
19	g.11129639G>T	CA404099656	LDLR	c.2774G>T (p.Cys925Phe) c.585G>T (n.585G>T) c.2396G>T (p.Cys799Phe) c.2516G>T (p.Cys839Phe) c.2770G>T c.2012G>T (p.Cys671Phe) c.2393G>T (p.Cys798Phe) c.1982G>T (p.Cys661Phe) c.2578G>T (p.Ala860Ser) n.108+1985G>T c.2438G>T (p.Cys813Phe) c.2135G>T (p.Cys712Phe) n.2850G>T n.2493G>T
19	g.11129640C>A	CA404099662	LDLR	c.2775C>A (p.Cys925Ter) c.586C>A (n.586C>A) c.2397C>A (p.Cys799Ter) c.2517C>A (p.Cys839Ter) c.2771C>A c.2013C>A (p.Cys671Ter) c.2394C>A (p.Cys798Ter) c.1983C>A (p.Cys661Ter) c.2579C>A (p.Ala860Asp) n.108+1986C>A c.2439C>A (p.Cys813Ter) c.2136C>A (p.Cys712Ter) n.2851C>A n.2494C>A
19	g.11129640C>G	CA404099671	LDLR	c.2775C>G (p.Cys925Trp) c.586C>G (n.586C>G) c.2397C>G (p.Cys799Trp) c.2517C>G (p.Cys839Trp) c.2771C>G c.2013C>G (p.Cys671Trp) c.2394C>G (p.Cys798Trp) c.1983C>G (p.Cys661Trp) c.2579C>G (p.Ala860Gly) n.108+1986C>G c.2439C>G (p.Cys813Trp) c.2136C>G (p.Cys712Trp) n.2851C>G n.2494C>G	gnomAD v4
19	g.11129640C>T	CA404099674	LDLR	c.2775C>T (p.Cys925=) c.586C>T (n.586C>T) c.2397C>T (p.Cys799=) c.2517C>T (p.Cys839=) c.2771C>T c.2013C>T (p.Cys671=) c.2394C>T (p.Cys798=) c.1983C>T (p.Cys661=) c.2579C>T (p.Ala860Val) n.108+1986C>T c.2439C>T (p.Cys813=) c.2136C>T (p.Cys712=) n.2851C>T n.2494C>T	ClinVar
19	g.11129641C>A	CA404099677	LDLR	c.2776C>A (p.His926Asn) c.587C>A (n.587C>A) c.2398C>A (p.His800Asn) c.2518C>A (p.His840Asn) c.2772C>A c.2014C>A (p.His672Asn) c.2395C>A (p.His799Asn) c.1984C>A (p.His662Asn) c.2580C>A (p.Ala860=) n.108+1987C>A c.2440C>A (p.His814Asn) c.2137C>A (p.His713Asn) n.2852C>A n.2495C>A
19	g.11129641C>G	CA404099682	LDLR	c.2776C>G (p.His926Asp) c.587C>G (n.587C>G) c.2398C>G (p.His800Asp) c.2518C>G (p.His840Asp) c.2772C>G c.2014C>G (p.His672Asp) c.2395C>G (p.His799Asp) c.1984C>G (p.His662Asp) c.2580C>G (p.Ala860=) n.108+1987C>G c.2440C>G (p.His814Asp) c.2137C>G (p.His713Asp) n.2852C>G n.2495C>G
19	g.11129641C>T	CA404099686	LDLR	c.2776C>T (p.His926Tyr) c.587C>T (n.587C>T) c.2398C>T (p.His800Tyr) c.2518C>T (p.His840Tyr) c.2772C>T c.2014C>T (p.His672Tyr) c.2395C>T (p.His799Tyr) c.1984C>T (p.His662Tyr) c.2580C>T (p.Ala860=) n.108+1987C>T c.2440C>T (p.His814Tyr) c.2137C>T (p.His713Tyr) n.2852C>T n.2495C>T
19	g.11129642A=	CA2322780319	LDLR	c.2777A= (p.His926=) c.588A= (n.588A=) c.2399A= (p.His800=) c.2519A= (p.His840=) c.2773A= c.2015A= (p.His672=) c.2396A= (p.His799=) c.1985A= (p.His662=) c.2581A= (p.Thr861=) n.108+1988A= c.2441A= (p.His814=) c.2138A= (p.His713=) n.2853A= n.2496A=
19	g.11129642A>C	CA404099689	LDLR	c.2777A>C (p.His926Pro) c.588A>C (n.588A>C) c.2399A>C (p.His800Pro) c.2519A>C (p.His840Pro) c.2773A>C c.2015A>C (p.His672Pro) c.2396A>C (p.His799Pro) c.1985A>C (p.His662Pro) c.2581A>C (p.Thr861Pro) n.108+1988A>C c.2441A>C (p.His814Pro) c.2138A>C (p.His713Pro) n.2853A>C n.2496A>C
19	g.11129642A>G	CA404099688	LDLR	c.2777A>G (p.His926Arg) c.588A>G (n.588A>G) c.2399A>G (p.His800Arg) c.2519A>G (p.His840Arg) c.2773A>G c.2015A>G (p.His672Arg) c.2396A>G (p.His799Arg) c.1985A>G (p.His662Arg) c.2581A>G (p.Thr861Ala) n.108+1988A>G c.2441A>G (p.His814Arg) c.2138A>G (p.His713Arg) n.2853A>G n.2496A>G	dbSNP gnomAD v2 gnomAD v4
19	g.11129642A>T	CA404099687	LDLR	c.2777A>T (p.His926Leu) c.588A>T (n.588A>T) c.2399A>T (p.His800Leu) c.2519A>T (p.His840Leu) c.2773A>T c.2015A>T (p.His672Leu) c.2396A>T (p.His799Leu) c.1985A>T (p.His662Leu) c.2581A>T (p.Thr861Ser) n.108+1988A>T c.2441A>T (p.His814Leu) c.2138A>T (p.His713Leu) n.2853A>T n.2496A>T
19	g.11129643C>A	CA404099694	LDLR	c.2778C>A (p.His926Gln) c.589C>A (n.589C>A) c.2400C>A (p.His800Gln) c.2520C>A (p.His840Gln) c.2774C>A c.2016C>A (p.His672Gln) c.2397C>A (p.His799Gln) c.1986C>A (p.His662Gln) c.2582C>A (p.Thr861Lys) n.108+1989C>A c.2442C>A (p.His814Gln) c.2139C>A (p.His713Gln) n.2854C>A n.2497C>A
19	g.11129643C=	CA2322780320	LDLR	c.2778C= (p.His926=) c.589C= (n.589C=) c.2400C= (p.His800=) c.2520C= (p.His840=) c.2774C= c.2016C= (p.His672=) c.2397C= (p.His799=) c.1986C= (p.His662=) c.2582C= (p.Thr861=) n.108+1989C= c.2442C= (p.His814=) c.2139C= (p.His713=) n.2854C= n.2497C=
19	g.11129643C>G	CA404099696	LDLR	c.2778C>G (p.His926Gln) c.589C>G (n.589C>G) c.2400C>G (p.His800Gln) c.2520C>G (p.His840Gln) c.2774C>G c.2016C>G (p.His672Gln) c.2397C>G (p.His799Gln) c.1986C>G (p.His662Gln) c.2582C>G (p.Thr861Arg) n.108+1989C>G c.2442C>G (p.His814Gln) c.2139C>G (p.His713Gln) n.2854C>G n.2497C>G	gnomAD v4
19	g.11129643C>T	CA404099699	LDLR	c.2778C>T (p.His926=) c.589C>T (n.589C>T) c.2400C>T (p.His800=) c.2520C>T (p.His840=) c.2774C>T c.2016C>T (p.His672=) c.2397C>T (p.His799=) c.1986C>T (p.His662=) c.2582C>T (p.Thr861Ile) n.108+1989C>T c.2442C>T (p.His814=) c.2139C>T (p.His713=) n.2854C>T n.2497C>T	ClinVar dbSNP gnomAD v4
19	g.11129644A>C	CA404099715	LDLR	c.2779A>C (p.Asn927His) c.590A>C (n.590A>C) c.2401A>C (p.Asn801His) c.2521A>C (p.Asn841His) c.2775A>C c.2017A>C (p.Asn673His) c.2398A>C (p.Asn800His) c.1987A>C (p.Asn663His) c.2583A>C (p.Thr861=) n.108+1990A>C c.2443A>C (p.Asn815His) c.2140A>C (p.Asn714His) n.2855A>C n.2498A>C
19	g.11129644A>G	CA404099720	LDLR	c.2779A>G (p.Asn927Asp) c.590A>G (n.590A>G) c.2401A>G (p.Asn801Asp) c.2521A>G (p.Asn841Asp) c.2775A>G c.2017A>G (p.Asn673Asp) c.2398A>G (p.Asn800Asp) c.1987A>G (p.Asn663Asp) c.2583A>G (p.Thr861=) n.108+1990A>G c.2443A>G (p.Asn815Asp) c.2140A>G (p.Asn714Asp) n.2855A>G n.2498A>G	gnomAD v4
19	g.11129644A>T	CA404099723	LDLR	c.2779A>T (p.Asn927Tyr) c.590A>T (n.590A>T) c.2401A>T (p.Asn801Tyr) c.2521A>T (p.Asn841Tyr) c.2775A>T c.2017A>T (p.Asn673Tyr) c.2398A>T (p.Asn800Tyr) c.1987A>T (p.Asn663Tyr) c.2583A>T (p.Thr861=) n.108+1990A>T c.2443A>T (p.Asn815Tyr) c.2140A>T (p.Asn714Tyr) n.2855A>T n.2498A>T
19	g.11129645A=	CA2322780321	LDLR	c.2780A= (p.Asn927=) c.591A= (n.591A=) c.2402A= (p.Asn801=) c.2522A= (p.Asn841=) c.2776A= c.2018A= (p.Asn673=) c.2399A= (p.Asn800=) c.1988A= (p.Asn663=) c.2584A= (p.Thr862=) n.108+1991A= c.2444A= (p.Asn815=) c.2141A= (p.Asn714=) n.2856A= n.2499A=
19	g.11129645A>C	CA404099728	LDLR	c.2780A>C (p.Asn927Thr) c.591A>C (n.591A>C) c.2402A>C (p.Asn801Thr) c.2522A>C (p.Asn841Thr) c.2776A>C c.2018A>C (p.Asn673Thr) c.2399A>C (p.Asn800Thr) c.1988A>C (p.Asn663Thr) c.2584A>C (p.Thr862Pro) n.108+1991A>C c.2444A>C (p.Asn815Thr) c.2141A>C (p.Asn714Thr) n.2856A>C n.2499A>C
19	g.11129645A>G	CA404099737	LDLR	c.2780A>G (p.Asn927Ser) c.591A>G (n.591A>G) c.2402A>G (p.Asn801Ser) c.2522A>G (p.Asn841Ser) c.2776A>G c.2018A>G (p.Asn673Ser) c.2399A>G (p.Asn800Ser) c.1988A>G (p.Asn663Ser) c.2584A>G (p.Thr862Ala) n.108+1991A>G c.2444A>G (p.Asn815Ser) c.2141A>G (p.Asn714Ser) n.2856A>G n.2499A>G	dbSNP gnomAD v4
19	g.11129645A>T	CA404099730	LDLR	c.2780A>T (p.Asn927Ile) c.591A>T (n.591A>T) c.2402A>T (p.Asn801Ile) c.2522A>T (p.Asn841Ile) c.2776A>T c.2018A>T (p.Asn673Ile) c.2399A>T (p.Asn800Ile) c.1988A>T (p.Asn663Ile) c.2584A>T (p.Thr862Ser) n.108+1991A>T c.2444A>T (p.Asn815Ile) c.2141A>T (p.Asn714Ile) n.2856A>T n.2499A>T
19	g.11129646C>A	CA404099741	LDLR	c.2781C>A (p.Asn927Lys) c.592C>A (n.592C>A) c.2403C>A (p.Asn801Lys) c.2523C>A (p.Asn841Lys) c.2777C>A c.2019C>A (p.Asn673Lys) c.2400C>A (p.Asn800Lys) c.1989C>A (p.Asn663Lys) c.2585C>A (p.Thr862Asn) n.108+1992C>A c.2445C>A (p.Asn815Lys) c.2142C>A (p.Asn714Lys) n.2857C>A n.2500C>A
19	g.11129646C=	CA2322780322	LDLR	c.2781C= (p.Asn927=) c.592C= (n.592C=) c.2403C= (p.Asn801=) c.2523C= (p.Asn841=) c.2777C= c.2019C= (p.Asn673=) c.2400C= (p.Asn800=) c.1989C= (p.Asn663=) c.2585C= (p.Thr862=) n.108+1992C= c.2445C= (p.Asn815=) c.2142C= (p.Asn714=) n.2857C= n.2500C=
19	g.11129646C>G	CA040912	LDLR	c.2781C>G (p.Asn927Lys) c.592C>G (n.592C>G) c.2403C>G (p.Asn801Lys) c.2523C>G (p.Asn841Lys) c.2777C>G c.2019C>G (p.Asn673Lys) c.2400C>G (p.Asn800Lys) c.1989C>G (p.Asn663Lys) c.2585C>G (p.Thr862Ser) n.108+1992C>G c.2445C>G (p.Asn815Lys) c.2142C>G (p.Asn714Lys) n.2857C>G n.2500C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129646C>T	CA404099746	LDLR	c.2781C>T (p.Asn927=) c.592C>T (n.592C>T) c.2403C>T (p.Asn801=) c.2523C>T (p.Asn841=) c.2777C>T c.2019C>T (p.Asn673=) c.2400C>T (p.Asn800=) c.1989C>T (p.Asn663=) c.2585C>T (p.Thr862Ile) n.108+1992C>T c.2445C>T (p.Asn815=) c.2142C>T (p.Asn714=) n.2857C>T n.2500C>T
19	g.11129647C>A	CA404099752	LDLR	c.2782C>A (p.Gln928Lys) c.593C>A (n.593C>A) c.2404C>A (p.Gln802Lys) c.2524C>A (p.Gln842Lys) c.2778C>A c.2020C>A (p.Gln674Lys) c.2401C>A (p.Gln801Lys) c.1990C>A (p.Gln664Lys) c.2586C>A (p.Thr862=) n.108+1993C>A c.2446C>A (p.Gln816Lys) c.2143C>A (p.Gln715Lys) n.2858C>A n.2501C>A
19	g.11129647C>G	CA404099754	LDLR	c.2782C>G (p.Gln928Glu) c.593C>G (n.593C>G) c.2404C>G (p.Gln802Glu) c.2524C>G (p.Gln842Glu) c.2778C>G c.2020C>G (p.Gln674Glu) c.2401C>G (p.Gln801Glu) c.1990C>G (p.Gln664Glu) c.2586C>G (p.Thr862=) n.108+1993C>G c.2446C>G (p.Gln816Glu) c.2143C>G (p.Gln715Glu) n.2858C>G n.2501C>G
19	g.11129647C>T	CA404099761	LDLR	c.2782C>T (p.Gln928Ter) c.593C>T (n.593C>T) c.2404C>T (p.Gln802Ter) c.2524C>T (p.Gln842Ter) c.2778C>T c.2020C>T (p.Gln674Ter) c.2401C>T (p.Gln801Ter) c.1990C>T (p.Gln664Ter) c.2586C>T (p.Thr862=) n.108+1993C>T c.2446C>T (p.Gln816Ter) c.2143C>T (p.Gln715Ter) n.2858C>T n.2501C>T
19	g.11129648A>C	CA404099764	LDLR	c.2783A>C (p.Gln928Pro) c.594A>C (n.594A>C) c.2405A>C (p.Gln802Pro) c.2525A>C (p.Gln842Pro) c.2779A>C c.2021A>C (p.Gln674Pro) c.2402A>C (p.Gln801Pro) c.1991A>C (p.Gln664Pro) c.2587A>C (p.Arg863=) n.108+1994A>C c.2447A>C (p.Gln816Pro) c.2144A>C (p.Gln715Pro) n.2859A>C n.2502A>C
19	g.11129648A>G	CA404099767	LDLR	c.2783A>G (p.Gln928Arg) c.594A>G (n.594A>G) c.2405A>G (p.Gln802Arg) c.2525A>G (p.Gln842Arg) c.2779A>G c.2021A>G (p.Gln674Arg) c.2402A>G (p.Gln801Arg) c.1991A>G (p.Gln664Arg) c.2587A>G (p.Arg863Gly) n.108+1994A>G c.2447A>G (p.Gln816Arg) c.2144A>G (p.Gln715Arg) n.2859A>G n.2502A>G	ClinVar gnomAD v4
19	g.11129648A>T	CA404099770	LDLR	c.2783A>T (p.Gln928Leu) c.594A>T (n.594A>T) c.2405A>T (p.Gln802Leu) c.2525A>T (p.Gln842Leu) c.2779A>T c.2021A>T (p.Gln674Leu) c.2402A>T (p.Gln801Leu) c.1991A>T (p.Gln664Leu) c.2587A>T (p.Arg863Trp) n.108+1994A>T c.2447A>T (p.Gln816Leu) c.2144A>T (p.Gln715Leu) n.2859A>T n.2502A>T
19	g.11129649G>A	CA404099775	LDLR	c.2784G>A (p.Gln928=) c.595G>A (n.595G>A) c.2406G>A (p.Gln802=) c.2526G>A (p.Gln842=) c.2780G>A c.2022G>A (p.Gln674=) c.2403G>A (p.Gln801=) c.1992G>A (p.Gln664=) c.2588G>A (p.Arg863Lys) n.108+1995G>A c.2448G>A (p.Gln816=) c.2145G>A (p.Gln715=) n.2860G>A n.2503G>A	gnomAD v4
19	g.11129649G>C	CA404099778	LDLR	c.2784G>C (p.Gln928His) c.595G>C (n.595G>C) c.2406G>C (p.Gln802His) c.2526G>C (p.Gln842His) c.2780G>C c.2022G>C (p.Gln674His) c.2403G>C (p.Gln801His) c.1992G>C (p.Gln664His) c.2588G>C (p.Arg863Thr) n.108+1995G>C c.2448G>C (p.Gln816His) c.2145G>C (p.Gln715His) n.2860G>C n.2503G>C
19	g.11129649G>T	CA404099781	LDLR	c.2784G>T (p.Gln928His) c.595G>T (n.595G>T) c.2406G>T (p.Gln802His) c.2526G>T (p.Gln842His) c.2780G>T c.2022G>T (p.Gln674His) c.2403G>T (p.Gln801His) c.1992G>T (p.Gln664His) c.2588G>T (p.Arg863Met) n.108+1995G>T c.2448G>T (p.Gln816His) c.2145G>T (p.Gln715His) n.2860G>T n.2503G>T
19	g.11129650G>A	CA404099784	LDLR	c.2785G>A (p.Asp929Asn) c.596G>A (n.596G>A) c.2407G>A (p.Asp803Asn) c.2527G>A (p.Asp843Asn) c.2781G>A c.2023G>A (p.Asp675Asn) c.2404G>A (p.Asp802Asn) c.1993G>A (p.Asp665Asn) c.2589G>A (p.Arg863=) n.108+1996G>A c.2449G>A (p.Asp817Asn) c.2146G>A (p.Asp716Asn) n.2861G>A n.2504G>A
19	g.11129650G>C	CA404099786	LDLR	c.2785G>C (p.Asp929His) c.596G>C (n.596G>C) c.2407G>C (p.Asp803His) c.2527G>C (p.Asp843His) c.2781G>C c.2023G>C (p.Asp675His) c.2404G>C (p.Asp802His) c.1993G>C (p.Asp665His) c.2589G>C (p.Arg863Ser) n.108+1996G>C c.2449G>C (p.Asp817His) c.2146G>C (p.Asp716His) n.2861G>C n.2504G>C
19	g.11129650G>T	CA404099785	LDLR	c.2785G>T (p.Asp929Tyr) c.596G>T (n.596G>T) c.2407G>T (p.Asp803Tyr) c.2527G>T (p.Asp843Tyr) c.2781G>T c.2023G>T (p.Asp675Tyr) c.2404G>T (p.Asp802Tyr) c.1993G>T (p.Asp665Tyr) c.2589G>T (p.Arg863Ser) n.108+1996G>T c.2449G>T (p.Asp817Tyr) c.2146G>T (p.Asp716Tyr) n.2861G>T n.2504G>T
19	g.11129651A>C	CA404099789	LDLR	c.2786A>C (p.Asp929Ala) c.597A>C (n.597A>C) c.2408A>C (p.Asp803Ala) c.2528A>C (p.Asp843Ala) c.2782A>C c.2024A>C (p.Asp675Ala) c.2405A>C (p.Asp802Ala) c.1994A>C (p.Asp665Ala) c.2590A>C (p.Thr864Pro) n.108+1997A>C c.2450A>C (p.Asp817Ala) c.2147A>C (p.Asp716Ala) n.2862A>C n.2505A>C
19	g.11129651A>G	CA404099791	LDLR	c.2786A>G (p.Asp929Gly) c.597A>G (n.597A>G) c.2408A>G (p.Asp803Gly) c.2528A>G (p.Asp843Gly) c.2782A>G c.2024A>G (p.Asp675Gly) c.2405A>G (p.Asp802Gly) c.1994A>G (p.Asp665Gly) c.2590A>G (p.Thr864Ala) n.108+1997A>G c.2450A>G (p.Asp817Gly) c.2147A>G (p.Asp716Gly) n.2862A>G n.2505A>G
19	g.11129651A>T	CA404099794	LDLR	c.2786A>T (p.Asp929Val) c.597A>T (n.597A>T) c.2408A>T (p.Asp803Val) c.2528A>T (p.Asp843Val) c.2782A>T c.2024A>T (p.Asp675Val) c.2405A>T (p.Asp802Val) c.1994A>T (p.Asp665Val) c.2590A>T (p.Thr864Ser) n.108+1997A>T c.2450A>T (p.Asp817Val) c.2147A>T (p.Asp716Val) n.2862A>T n.2505A>T
19	g.11129652C>A	CA404099797	LDLR	c.2787C>A (p.Asp929Glu) c.598C>A (n.598C>A) c.2409C>A (p.Asp803Glu) c.2529C>A (p.Asp843Glu) c.2783C>A c.2025C>A (p.Asp675Glu) c.2406C>A (p.Asp802Glu) c.1995C>A (p.Asp665Glu) c.2591C>A (p.Thr864Lys) n.108+1998C>A c.2451C>A (p.Asp817Glu) c.2148C>A (p.Asp716Glu) n.2863C>A n.2506C>A
19	g.11129652C=	CA2322780323	LDLR	c.2787C= (p.Asp929=) c.598C= (n.598C=) c.2409C= (p.Asp803=) c.2529C= (p.Asp843=) c.2783C= c.2025C= (p.Asp675=) c.2406C= (p.Asp802=) c.1995C= (p.Asp665=) c.2591C= (p.Thr864=) n.108+1998C= c.2451C= (p.Asp817=) c.2148C= (p.Asp716=) n.2863C= n.2506C=
19	g.11129652C>G	CA404099828	LDLR	c.2787C>G (p.Asp929Glu) c.598C>G (n.598C>G) c.2409C>G (p.Asp803Glu) c.2529C>G (p.Asp843Glu) c.2783C>G c.2025C>G (p.Asp675Glu) c.2406C>G (p.Asp802Glu) c.1995C>G (p.Asp665Glu) c.2591C>G (p.Thr864Arg) n.108+1998C>G c.2451C>G (p.Asp817Glu) c.2148C>G (p.Asp716Glu) n.2863C>G n.2506C>G
19	g.11129652C>T	CA040949	LDLR	c.2787C>T (p.Asp929=) c.598C>T (n.598C>T) c.2409C>T (p.Asp803=) c.2529C>T (p.Asp843=) c.2783C>T c.2025C>T (p.Asp675=) c.2406C>T (p.Asp802=) c.1995C>T (p.Asp665=) c.2591C>T (p.Thr864Met) n.108+1998C>T c.2451C>T (p.Asp817=) c.2148C>T (p.Asp716=) n.2863C>T n.2506C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129652_11129653delinsA	CA2497030108	LDLR	c.2787_2788delinsA (p.Asp929GlufsTer?) c.598_599delinsA (n.598_599delinsA) c.2409_2410delinsA (p.Asp803GlufsTer?) c.2529_2530delinsA (p.Asp843GlufsTer?) c.2783_2784delinsA c.2025_2026delinsA (p.Asp675GlufsTer?) c.2406_2407delinsA (p.Asp802GlufsTer?) c.1995_1996delinsA (p.Asp665GlufsTer?) c.2591_2592delinsA (p.Thr864LysfsTer15) n.108+1998_108+1999delinsA c.2451_2452delinsA (p.Asp817GlufsTer?) c.2148_2149delinsA (p.Asp716GlufsTer?) n.2863_2864delinsA n.2506_2507delinsA
19	g.11129653_11129665del	CA2499225335	LDLR	c.2788_2800del (p.Gly930ProfsTer?) c.599_611del (n.599_611del) c.2410_2422del (p.Gly804ProfsTer?) c.2530_2542del (p.Gly844ProfsTer?) c.2784_2796del c.2026_2038del (p.Gly676ProfsTer?) c.2407_2419del (p.Gly803ProfsTer?) c.1996_2008del (p.Gly666ProfsTer?) c.2592_2604del (p.Ala865LeufsTer10) n.108+1999_108+2011del c.2452_2464del (p.Gly818ProfsTer?) c.2149_2161del (p.Gly717ProfsTer?) n.2864_2876del n.2507_2519del	ClinVar dbSNP
19	g.11129653G>A	CA404099832	LDLR	c.2788G>A (p.Gly930Ser) c.599G>A (n.599G>A) c.2410G>A (p.Gly804Ser) c.2530G>A (p.Gly844Ser) c.2784G>A c.2026G>A (p.Gly676Ser) c.2407G>A (p.Gly803Ser) c.1996G>A (p.Gly666Ser) c.2592G>A (p.Thr864=) n.108+1999G>A c.2452G>A (p.Gly818Ser) c.2149G>A (p.Gly717Ser) n.2864G>A n.2507G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129653G>C	CA404099833	LDLR	c.2788G>C (p.Gly930Arg) c.599G>C (n.599G>C) c.2410G>C (p.Gly804Arg) c.2530G>C (p.Gly844Arg) c.2784G>C c.2026G>C (p.Gly676Arg) c.2407G>C (p.Gly803Arg) c.1996G>C (p.Gly666Arg) c.2592G>C (p.Thr864=) n.108+1999G>C c.2452G>C (p.Gly818Arg) c.2149G>C (p.Gly717Arg) n.2864G>C n.2507G>C
19	g.11129653G=	CA2322780324	LDLR	c.2788G= (p.Gly930=) c.599G= (n.599G=) c.2410G= (p.Gly804=) c.2530G= (p.Gly844=) c.2784G= c.2026G= (p.Gly676=) c.2407G= (p.Gly803=) c.1996G= (p.Gly666=) c.2592G= (p.Thr864=) n.108+1999G= c.2452G= (p.Gly818=) c.2149G= (p.Gly717=) n.2864G= n.2507G=
19	g.11129653G>T	CA404099835	LDLR	c.2788G>T (p.Gly930Cys) c.599G>T (n.599G>T) c.2410G>T (p.Gly804Cys) c.2530G>T (p.Gly844Cys) c.2784G>T c.2026G>T (p.Gly676Cys) c.2407G>T (p.Gly803Cys) c.1996G>T (p.Gly666Cys) c.2592G>T (p.Thr864=) n.108+1999G>T c.2452G>T (p.Gly818Cys) c.2149G>T (p.Gly717Cys) n.2864G>T n.2507G>T	gnomAD v4
19	g.11129654G>A	CA023681	LDLR	c.2789G>A (p.Gly930Asp) c.600G>A (n.600G>A) c.2411G>A (p.Gly804Asp) c.2531G>A (p.Gly844Asp) c.2785G>A c.2027G>A (p.Gly676Asp) c.2408G>A (p.Gly803Asp) c.1997G>A (p.Gly666Asp) c.2593G>A (p.Ala865Thr) n.108+2000G>A c.2453G>A (p.Gly818Asp) c.2150G>A (p.Gly717Asp) n.2865G>A n.2508G>A	ClinVar dbSNP gnomAD v4
19	g.11129654G>C	CA404099841	LDLR	c.2789G>C (p.Gly930Ala) c.600G>C (n.600G>C) c.2411G>C (p.Gly804Ala) c.2531G>C (p.Gly844Ala) c.2785G>C c.2027G>C (p.Gly676Ala) c.2408G>C (p.Gly803Ala) c.1997G>C (p.Gly666Ala) c.2593G>C (p.Ala865Pro) n.108+2000G>C c.2453G>C (p.Gly818Ala) c.2150G>C (p.Gly717Ala) n.2865G>C n.2508G>C
19	g.11129654G=	CA2322780325	LDLR	c.2789G= (p.Gly930=) c.600G= (n.600G=) c.2411G= (p.Gly804=) c.2531G= (p.Gly844=) c.2785G= c.2027G= (p.Gly676=) c.2408G= (p.Gly803=) c.1997G= (p.Gly666=) c.2593G= (p.Ala865=) n.108+2000G= c.2453G= (p.Gly818=) c.2150G= (p.Gly717=) n.2865G= n.2508G=
19	g.11129654G>T	CA404099844	LDLR	c.2789G>T (p.Gly930Val) c.600G>T (n.600G>T) c.2411G>T (p.Gly804Val) c.2531G>T (p.Gly844Val) c.2785G>T c.2027G>T (p.Gly676Val) c.2408G>T (p.Gly803Val) c.1997G>T (p.Gly666Val) c.2593G>T (p.Ala865Ser) n.108+2000G>T c.2453G>T (p.Gly818Val) c.2150G>T (p.Gly717Val) n.2865G>T n.2508G>T
19	g.11129655C>A	CA404099854	LDLR	c.2790C>A (p.Gly930=) c.601C>A (n.601C>A) c.2412C>A (p.Gly804=) c.2532C>A (p.Gly844=) c.2786C>A c.2028C>A (p.Gly676=) c.2409C>A (p.Gly803=) c.1998C>A (p.Gly666=) c.2594C>A (p.Ala865Asp) n.108+2001C>A c.2454C>A (p.Gly818=) c.2151C>A (p.Gly717=) n.2866C>A n.2509C>A
19	g.11129655C>G	CA404099851	LDLR	c.2790C>G (p.Gly930=) c.601C>G (n.601C>G) c.2412C>G (p.Gly804=) c.2532C>G (p.Gly844=) c.2786C>G c.2028C>G (p.Gly676=) c.2409C>G (p.Gly803=) c.1998C>G (p.Gly666=) c.2594C>G (p.Ala865Gly) n.108+2001C>G c.2454C>G (p.Gly818=) c.2151C>G (p.Gly717=) n.2866C>G n.2509C>G
19	g.11129655C>T	CA404099849	LDLR	c.2790C>T (p.Gly930=) c.601C>T (n.601C>T) c.2412C>T (p.Gly804=) c.2532C>T (p.Gly844=) c.2786C>T c.2028C>T (p.Gly676=) c.2409C>T (p.Gly803=) c.1998C>T (p.Gly666=) c.2594C>T (p.Ala865Val) n.108+2001C>T c.2454C>T (p.Gly818=) c.2151C>T (p.Gly717=) n.2866C>T n.2509C>T
19	g.11129656T>A	CA404099856	LDLR	c.2791T>A (p.Tyr931Asn) c.602T>A (n.602T>A) c.2413T>A (p.Tyr805Asn) c.2533T>A (p.Tyr845Asn) c.2787T>A c.2029T>A (p.Tyr677Asn) c.2410T>A (p.Tyr804Asn) c.1999T>A (p.Tyr667Asn) c.2595T>A (p.Ala865=) n.108+2002T>A c.2455T>A (p.Tyr819Asn) c.2152T>A (p.Tyr718Asn) n.2867T>A n.2510T>A
19	g.11129656T>C	CA404099859	LDLR	c.2791T>C (p.Tyr931His) c.602T>C (n.602T>C) c.2413T>C (p.Tyr805His) c.2533T>C (p.Tyr845His) c.2787T>C c.2029T>C (p.Tyr677His) c.2410T>C (p.Tyr804His) c.1999T>C (p.Tyr667His) c.2595T>C (p.Ala865=) n.108+2002T>C c.2455T>C (p.Tyr819His) c.2152T>C (p.Tyr718His) n.2867T>C n.2510T>C
19	g.11129656T>G	CA404099861	LDLR	c.2791T>G (p.Tyr931Asp) c.602T>G (n.602T>G) c.2413T>G (p.Tyr805Asp) c.2533T>G (p.Tyr845Asp) c.2787T>G c.2029T>G (p.Tyr677Asp) c.2410T>G (p.Tyr804Asp) c.1999T>G (p.Tyr667Asp) c.2595T>G (p.Ala865=) n.108+2002T>G c.2455T>G (p.Tyr819Asp) c.2152T>G (p.Tyr718Asp) n.2867T>G n.2510T>G
19	g.11129657A=	CA2322780327	LDLR	c.2792A= (p.Tyr931=) c.603A= (n.603A=) c.2414A= (p.Tyr805=) c.2534A= (p.Tyr845=) c.2788A= c.2030A= (p.Tyr677=) c.2411A= (p.Tyr804=) c.2000A= (p.Tyr667=) c.2596A= (p.Thr866=) n.108+2003A= c.2456A= (p.Tyr819=) c.2153A= (p.Tyr718=) n.2868A= n.2511A=
19	g.11129657A>C	CA404099864	LDLR	c.2792A>C (p.Tyr931Ser) c.603A>C (n.603A>C) c.2414A>C (p.Tyr805Ser) c.2534A>C (p.Tyr845Ser) c.2788A>C c.2030A>C (p.Tyr677Ser) c.2411A>C (p.Tyr804Ser) c.2000A>C (p.Tyr667Ser) c.2596A>C (p.Thr866Pro) n.108+2003A>C c.2456A>C (p.Tyr819Ser) c.2153A>C (p.Tyr718Ser) n.2868A>C n.2511A>C
19	g.11129657A>G	CA404099866	LDLR	c.2792A>G (p.Tyr931Cys) c.603A>G (n.603A>G) c.2414A>G (p.Tyr805Cys) c.2534A>G (p.Tyr845Cys) c.2788A>G c.2030A>G (p.Tyr677Cys) c.2411A>G (p.Tyr804Cys) c.2000A>G (p.Tyr667Cys) c.2596A>G (p.Thr866Ala) n.108+2003A>G c.2456A>G (p.Tyr819Cys) c.2153A>G (p.Tyr718Cys) n.2868A>G n.2511A>G	ClinVar dbSNP
19	g.11129657A>T	CA404099869	LDLR	c.2792A>T (p.Tyr931Phe) c.603A>T (n.603A>T) c.2414A>T (p.Tyr805Phe) c.2534A>T (p.Tyr845Phe) c.2788A>T c.2030A>T (p.Tyr677Phe) c.2411A>T (p.Tyr804Phe) c.2000A>T (p.Tyr667Phe) c.2596A>T (p.Thr866Ser) n.108+2003A>T c.2456A>T (p.Tyr819Phe) c.2153A>T (p.Tyr718Phe) n.2868A>T n.2511A>T
19	g.11129657_11129660delinsACAG	CA2322780326	LDLR	c.2792_2795delinsACAG (p.Tyr931=) c.603_606delinsACAG (n.603_606delinsACAG) c.2414_2417delinsACAG (p.Tyr805=) c.2534_2537delinsACAG (p.Tyr845=) c.2788_2791delinsACAG c.2030_2033delinsACAG (p.Tyr677=) c.2411_2414delinsACAG (p.Tyr804=) c.2000_2003delinsACAG (p.Tyr667=) c.2596_2599delinsACAG (p.Thr866=) n.108+2003_108+2006delinsACAG c.2456_2459delinsACAG (p.Tyr819=) c.2153_2156delinsACAG (p.Tyr718=) n.2868_2871delinsACAG n.2511_2514delinsACAG
19	g.11129658C>A	CA404099872	LDLR	c.2793C>A (p.Tyr931Ter) c.604C>A (n.604C>A) c.2415C>A (p.Tyr805Ter) c.2535C>A (p.Tyr845Ter) c.2789C>A c.2031C>A (p.Tyr677Ter) c.2412C>A (p.Tyr804Ter) c.2001C>A (p.Tyr667Ter) c.2597C>A (p.Thr866Lys) n.108+2004C>A c.2457C>A (p.Tyr819Ter) c.2154C>A (p.Tyr718Ter) n.2869C>A n.2512C>A
19	g.11129658C=	CA2322780328	LDLR	c.2793C= (p.Tyr931=) c.604C= (n.604C=) c.2415C= (p.Tyr805=) c.2535C= (p.Tyr845=) c.2789C= c.2031C= (p.Tyr677=) c.2412C= (p.Tyr804=) c.2001C= (p.Tyr667=) c.2597C= (p.Thr866=) n.108+2004C= c.2457C= (p.Tyr819=) c.2154C= (p.Tyr718=) n.2869C= n.2512C=
19	g.11129658C>G	CA404099874	LDLR	c.2793C>G (p.Tyr931Ter) c.604C>G (n.604C>G) c.2415C>G (p.Tyr805Ter) c.2535C>G (p.Tyr845Ter) c.2789C>G c.2031C>G (p.Tyr677Ter) c.2412C>G (p.Tyr804Ter) c.2001C>G (p.Tyr667Ter) c.2597C>G (p.Thr866Arg) n.108+2004C>G c.2457C>G (p.Tyr819Ter) c.2154C>G (p.Tyr718Ter) n.2869C>G n.2512C>G
19	g.11129658C>T	CA040961	LDLR	c.2793C>T (p.Tyr931=) c.604C>T (n.604C>T) c.2415C>T (p.Tyr805=) c.2535C>T (p.Tyr845=) c.2789C>T c.2031C>T (p.Tyr677=) c.2412C>T (p.Tyr804=) c.2001C>T (p.Tyr667=) c.2597C>T (p.Thr866Ile) n.108+2004C>T c.2457C>T (p.Tyr819=) c.2154C>T (p.Tyr718=) n.2869C>T n.2512C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129659_11129661del	CA631770049	LDLR	c.2794_2796del (p.Ser932del) c.605_607del (n.605_607del) c.2416_2418del (p.Ser806del) c.2536_2538del (p.Ser846del) c.2790_2792del c.2032_2034del (p.Ser678del) c.2413_2415del (p.Ser805del) c.2002_2004del (p.Ser668del) c.2598_2600del (p.Ala867del) n.108+2005_108+2007del c.2458_2460del (p.Ser820del) c.2155_2157del (p.Ser719del) n.2870_2872del n.2513_2515del	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.11129659A=	CA2322780329	LDLR	c.2794A= (p.Ser932=) c.605A= (n.605A=) c.2416A= (p.Ser806=) c.2536A= (p.Ser846=) c.2790A= c.2032A= (p.Ser678=) c.2413A= (p.Ser805=) c.2002A= (p.Ser668=) c.2598A= (p.Thr866=) n.108+2005A= c.2458A= (p.Ser820=) c.2155A= (p.Ser719=) n.2870A= n.2513A=
19	g.11129659A>C	CA404099880	LDLR	c.2794A>C (p.Ser932Arg) c.605A>C (n.605A>C) c.2416A>C (p.Ser806Arg) c.2536A>C (p.Ser846Arg) c.2790A>C c.2032A>C (p.Ser678Arg) c.2413A>C (p.Ser805Arg) c.2002A>C (p.Ser668Arg) c.2598A>C (p.Thr866=) n.108+2005A>C c.2458A>C (p.Ser820Arg) c.2155A>C (p.Ser719Arg) n.2870A>C n.2513A>C
19	g.11129659A>G	CA404099882	LDLR	c.2794A>G (p.Ser932Gly) c.605A>G (n.605A>G) c.2416A>G (p.Ser806Gly) c.2536A>G (p.Ser846Gly) c.2790A>G c.2032A>G (p.Ser678Gly) c.2413A>G (p.Ser805Gly) c.2002A>G (p.Ser668Gly) c.2598A>G (p.Thr866=) n.108+2005A>G c.2458A>G (p.Ser820Gly) c.2155A>G (p.Ser719Gly) n.2870A>G n.2513A>G	dbSNP gnomAD v4
19	g.11129659A>T	CA404099885	LDLR	c.2794A>T (p.Ser932Cys) c.605A>T (n.605A>T) c.2416A>T (p.Ser806Cys) c.2536A>T (p.Ser846Cys) c.2790A>T c.2032A>T (p.Ser678Cys) c.2413A>T (p.Ser805Cys) c.2002A>T (p.Ser668Cys) c.2598A>T (p.Thr866=) n.108+2005A>T c.2458A>T (p.Ser820Cys) c.2155A>T (p.Ser719Cys) n.2870A>T n.2513A>T
19	g.11129660G>A	CA404099888	LDLR	c.2795G>A (p.Ser932Asn) c.606G>A (n.606G>A) c.2417G>A (p.Ser806Asn) c.2537G>A (p.Ser846Asn) c.2791G>A c.2033G>A (p.Ser678Asn) c.2414G>A (p.Ser805Asn) c.2003G>A (p.Ser668Asn) c.2599G>A (p.Ala867Thr) n.108+2006G>A c.2459G>A (p.Ser820Asn) c.2156G>A (p.Ser719Asn) n.2871G>A n.2514G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.11129660G>C	CA404099895	LDLR	c.2795G>C (p.Ser932Thr) c.606G>C (n.606G>C) c.2417G>C (p.Ser806Thr) c.2537G>C (p.Ser846Thr) c.2791G>C c.2033G>C (p.Ser678Thr) c.2414G>C (p.Ser805Thr) c.2003G>C (p.Ser668Thr) c.2599G>C (p.Ala867Pro) n.108+2006G>C c.2459G>C (p.Ser820Thr) c.2156G>C (p.Ser719Thr) n.2871G>C n.2514G>C
19	g.11129660G=	CA2322780330	LDLR	c.2795G= (p.Ser932=) c.606G= (n.606G=) c.2417G= (p.Ser806=) c.2537G= (p.Ser846=) c.2791G= c.2033G= (p.Ser678=) c.2414G= (p.Ser805=) c.2003G= (p.Ser668=) c.2599G= (p.Ala867=) n.108+2006G= c.2459G= (p.Ser820=) c.2156G= (p.Ser719=) n.2871G= n.2514G=
19	g.11129660G>T	CA404099891	LDLR	c.2795G>T (p.Ser932Ile) c.606G>T (n.606G>T) c.2417G>T (p.Ser806Ile) c.2537G>T (p.Ser846Ile) c.2791G>T c.2033G>T (p.Ser678Ile) c.2414G>T (p.Ser805Ile) c.2003G>T (p.Ser668Ile) c.2599G>T (p.Ala867Ser) n.108+2006G>T c.2459G>T (p.Ser820Ile) c.2156G>T (p.Ser719Ile) n.2871G>T n.2514G>T
19	g.11129661C>A	CA404099899	LDLR	c.2796C>A (p.Ser932Arg) c.607C>A (n.607C>A) c.2418C>A (p.Ser806Arg) c.2538C>A (p.Ser846Arg) c.2792C>A c.2034C>A (p.Ser678Arg) c.2415C>A (p.Ser805Arg) c.2004C>A (p.Ser668Arg) c.2600C>A (p.Ala867Asp) n.108+2007C>A c.2460C>A (p.Ser820Arg) c.2157C>A (p.Ser719Arg) n.2872C>A n.2515C>A
19	g.11129661C=	CA2322780331	LDLR	c.2796C= (p.Ser932=) c.607C= (n.607C=) c.2418C= (p.Ser806=) c.2538C= (p.Ser846=) c.2792C= c.2034C= (p.Ser678=) c.2415C= (p.Ser805=) c.2004C= (p.Ser668=) c.2600C= (p.Ala867=) n.108+2007C= c.2460C= (p.Ser820=) c.2157C= (p.Ser719=) n.2872C= n.2515C=
19	g.11129661C>G	CA040971	LDLR	c.2796C>G (p.Ser932Arg) c.607C>G (n.607C>G) c.2418C>G (p.Ser806Arg) c.2538C>G (p.Ser846Arg) c.2792C>G c.2034C>G (p.Ser678Arg) c.2415C>G (p.Ser805Arg) c.2004C>G (p.Ser668Arg) c.2600C>G (p.Ala867Gly) n.108+2007C>G c.2460C>G (p.Ser820Arg) c.2157C>G (p.Ser719Arg) n.2872C>G n.2515C>G	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129661C>T	CA404099907	LDLR	c.2796C>T (p.Ser932=) c.607C>T (n.607C>T) c.2418C>T (p.Ser806=) c.2538C>T (p.Ser846=) c.2792C>T c.2034C>T (p.Ser678=) c.2415C>T (p.Ser805=) c.2004C>T (p.Ser668=) c.2600C>T (p.Ala867Val) n.108+2007C>T c.2460C>T (p.Ser820=) c.2157C>T (p.Ser719=) n.2872C>T n.2515C>T
19	g.11129662T>A	CA404099918	LDLR	c.2797T>A (p.Tyr933Asn) c.608T>A (n.608T>A) c.2419T>A (p.Tyr807Asn) c.2539T>A (p.Tyr847Asn) c.2793T>A c.2035T>A (p.Tyr679Asn) c.2416T>A (p.Tyr806Asn) c.2005T>A (p.Tyr669Asn) c.2601T>A (p.Ala867=) n.108+2008T>A c.2461T>A (p.Tyr821Asn) c.2158T>A (p.Tyr720Asn) n.2873T>A n.2516T>A
19	g.11129662T>C	CA404099924	LDLR	c.2797T>C (p.Tyr933His) c.608T>C (n.608T>C) c.2419T>C (p.Tyr807His) c.2539T>C (p.Tyr847His) c.2793T>C c.2035T>C (p.Tyr679His) c.2416T>C (p.Tyr806His) c.2005T>C (p.Tyr669His) c.2601T>C (p.Ala867=) n.108+2008T>C c.2461T>C (p.Tyr821His) c.2158T>C (p.Tyr720His) n.2873T>C n.2516T>C
19	g.11129662T>G	CA404099920	LDLR	c.2797T>G (p.Tyr933Asp) c.608T>G (n.608T>G) c.2419T>G (p.Tyr807Asp) c.2539T>G (p.Tyr847Asp) c.2793T>G c.2035T>G (p.Tyr679Asp) c.2416T>G (p.Tyr806Asp) c.2005T>G (p.Tyr669Asp) c.2601T>G (p.Ala867=) n.108+2008T>G c.2461T>G (p.Tyr821Asp) c.2158T>G (p.Tyr720Asp) n.2873T>G n.2516T>G
19	g.11129663A=	CA2322780332	LDLR	c.2798A= (p.Tyr933=) c.609A= (n.609A=) c.2420A= (p.Tyr807=) c.2540A= (p.Tyr847=) c.2794A= c.2036A= (p.Tyr679=) c.2417A= (p.Tyr806=) c.2006A= (p.Tyr669=) c.2602A= (p.Thr868=) n.108+2009A= c.2462A= (p.Tyr821=) c.2159A= (p.Tyr720=) n.2874A= n.2517A=
19	g.11129663A>C	CA404099928	LDLR	c.2798A>C (p.Tyr933Ser) c.609A>C (n.609A>C) c.2420A>C (p.Tyr807Ser) c.2540A>C (p.Tyr847Ser) c.2794A>C c.2036A>C (p.Tyr679Ser) c.2417A>C (p.Tyr806Ser) c.2006A>C (p.Tyr669Ser) c.2602A>C (p.Thr868Pro) n.108+2009A>C c.2462A>C (p.Tyr821Ser) c.2159A>C (p.Tyr720Ser) n.2874A>C n.2517A>C	ClinVar dbSNP gnomAD v4
19	g.11129663A>G	CA404099931	LDLR	c.2798A>G (p.Tyr933Cys) c.609A>G (n.609A>G) c.2420A>G (p.Tyr807Cys) c.2540A>G (p.Tyr847Cys) c.2794A>G c.2036A>G (p.Tyr679Cys) c.2417A>G (p.Tyr806Cys) c.2006A>G (p.Tyr669Cys) c.2602A>G (p.Thr868Ala) n.108+2009A>G c.2462A>G (p.Tyr821Cys) c.2159A>G (p.Tyr720Cys) n.2874A>G n.2517A>G
19	g.11129663A>T	CA404099935	LDLR	c.2798A>T (p.Tyr933Phe) c.609A>T (n.609A>T) c.2420A>T (p.Tyr807Phe) c.2540A>T (p.Tyr847Phe) c.2794A>T c.2036A>T (p.Tyr679Phe) c.2417A>T (p.Tyr806Phe) c.2006A>T (p.Tyr669Phe) c.2602A>T (p.Thr868Ser) n.108+2009A>T c.2462A>T (p.Tyr821Phe) c.2159A>T (p.Tyr720Phe) n.2874A>T n.2517A>T
19	g.11129664C>A	CA404099939	LDLR	c.2799C>A (p.Tyr933Ter) c.610C>A (n.610C>A) c.2421C>A (p.Tyr807Ter) c.2541C>A (p.Tyr847Ter) c.2795C>A c.2037C>A (p.Tyr679Ter) c.2418C>A (p.Tyr806Ter) c.2007C>A (p.Tyr669Ter) c.2603C>A (p.Thr868Asn) n.108+2010C>A c.2463C>A (p.Tyr821Ter) c.2160C>A (p.Tyr720Ter) n.2875C>A n.2518C>A
19	g.11129664C=	CA2322780333	LDLR	c.2799C= (p.Tyr933=) c.610C= (n.610C=) c.2421C= (p.Tyr807=) c.2541C= (p.Tyr847=) c.2795C= c.2037C= (p.Tyr679=) c.2418C= (p.Tyr806=) c.2007C= (p.Tyr669=) c.2603C= (p.Thr868=) n.108+2010C= c.2463C= (p.Tyr821=) c.2160C= (p.Tyr720=) n.2875C= n.2518C=
19	g.11129664C>G	CA404099942	LDLR	c.2799C>G (p.Tyr933Ter) c.610C>G (n.610C>G) c.2421C>G (p.Tyr807Ter) c.2541C>G (p.Tyr847Ter) c.2795C>G c.2037C>G (p.Tyr679Ter) c.2418C>G (p.Tyr806Ter) c.2007C>G (p.Tyr669Ter) c.2603C>G (p.Thr868Ser) n.108+2010C>G c.2463C>G (p.Tyr821Ter) c.2160C>G (p.Tyr720Ter) n.2875C>G n.2518C>G
19	g.11129664C>T	CA040987	LDLR	c.2799C>T (p.Tyr933=) c.610C>T (n.610C>T) c.2421C>T (p.Tyr807=) c.2541C>T (p.Tyr847=) c.2795C>T c.2037C>T (p.Tyr679=) c.2418C>T (p.Tyr806=) c.2007C>T (p.Tyr669=) c.2603C>T (p.Thr868Ile) n.108+2010C>T c.2463C>T (p.Tyr821=) c.2160C>T (p.Tyr720=) n.2875C>T n.2518C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.11129667dup	CA10585877	LDLR	c.2802dup (p.Ser935LeufsTer10) c.613dup (n.613dup) c.2424dup (p.Ser809LeufsTer10) c.2544dup (p.Ser849LeufsTer10) c.2798dup c.2040dup (p.Ser681LeufsTer10) c.2421dup (p.Ser808LeufsTer10) c.2010dup (p.Ser671LeufsTer10) c.2606dup (p.Arg870SerfsTer13) c.2544dup (p.Ser849LeufsTer8) n.108+2013dup c.2466dup (p.Ser823LeufsTer10) c.2163dup (p.Ser722LeufsTer10) n.2878dup n.2521dup	ClinVar dbSNP
19	g.11129667del	CA2830773970	LDLR	c.2802del (p.Ser935ArgfsTer?) c.613del (n.613del) c.2424del (p.Ser809ArgfsTer?) c.2544del (p.Ser849ArgfsTer?) c.2798del c.2040del (p.Ser681ArgfsTer?) c.2421del (p.Ser808ArgfsTer?) c.2010del (p.Ser671ArgfsTer?) c.2606del (p.Pro869LeufsTer10) n.108+2013del c.2466del (p.Ser823ArgfsTer?) c.2163del (p.Ser722ArgfsTer?) n.2878del n.2521del
19	g.11129665C>A	CA404099944	LDLR	c.2800C>A (p.Pro934Thr) c.611C>A (n.611C>A) c.2422C>A (p.Pro808Thr) c.2542C>A (p.Pro848Thr) c.2796C>A c.2038C>A (p.Pro680Thr) c.2419C>A (p.Pro807Thr) c.2008C>A (p.Pro670Thr) c.2604C>A (p.Thr868=) n.108+2011C>A c.2464C>A (p.Pro822Thr) c.2161C>A (p.Pro721Thr) n.2876C>A n.2519C>A
19	g.11129665C=	CA2322780334	LDLR	c.2800C= (p.Pro934=) c.611C= (n.611C=) c.2422C= (p.Pro808=) c.2542C= (p.Pro848=) c.2796C= c.2038C= (p.Pro680=) c.2419C= (p.Pro807=) c.2008C= (p.Pro670=) c.2604C= (p.Thr868=) n.108+2011C= c.2464C= (p.Pro822=) c.2161C= (p.Pro721=) n.2876C= n.2519C=
19	g.11129665C>G	CA404099947	LDLR	c.2800C>G (p.Pro934Ala) c.611C>G (n.611C>G) c.2422C>G (p.Pro808Ala) c.2542C>G (p.Pro848Ala) c.2796C>G c.2038C>G (p.Pro680Ala) c.2419C>G (p.Pro807Ala) c.2008C>G (p.Pro670Ala) c.2604C>G (p.Thr868=) n.108+2011C>G c.2464C>G (p.Pro822Ala) c.2161C>G (p.Pro721Ala) n.2876C>G n.2519C>G
19	g.11129665C>T	CA404099950	LDLR	c.2800C>T (p.Pro934Ser) c.611C>T (n.611C>T) c.2422C>T (p.Pro808Ser) c.2542C>T (p.Pro848Ser) c.2796C>T c.2038C>T (p.Pro680Ser) c.2419C>T (p.Pro807Ser) c.2008C>T (p.Pro670Ser) c.2604C>T (p.Thr868=) n.108+2011C>T c.2464C>T (p.Pro822Ser) c.2161C>T (p.Pro721Ser) n.2876C>T n.2519C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129666C>A	CA404099954	LDLR	c.2801C>A (p.Pro934His) c.612C>A (n.612C>A) c.2423C>A (p.Pro808His) c.2543C>A (p.Pro848His) c.2797C>A c.2039C>A (p.Pro680His) c.2420C>A (p.Pro807His) c.2009C>A (p.Pro670His) c.2605C>A (p.Pro869Thr) n.108+2012C>A c.2465C>A (p.Pro822His) c.2162C>A (p.Pro721His) n.2877C>A n.2520C>A
19	g.11129666C>G	CA404099957	LDLR	c.2801C>G (p.Pro934Arg) c.612C>G (n.612C>G) c.2423C>G (p.Pro808Arg) c.2543C>G (p.Pro848Arg) c.2797C>G c.2039C>G (p.Pro680Arg) c.2420C>G (p.Pro807Arg) c.2009C>G (p.Pro670Arg) c.2605C>G (p.Pro869Ala) n.108+2012C>G c.2465C>G (p.Pro822Arg) c.2162C>G (p.Pro721Arg) n.2877C>G n.2520C>G
19	g.11129666C>T	CA404099962	LDLR	c.2801C>T (p.Pro934Leu) c.612C>T (n.612C>T) c.2423C>T (p.Pro808Leu) c.2543C>T (p.Pro848Leu) c.2797C>T c.2039C>T (p.Pro680Leu) c.2420C>T (p.Pro807Leu) c.2009C>T (p.Pro670Leu) c.2605C>T (p.Pro869Ser) n.108+2012C>T c.2465C>T (p.Pro822Leu) c.2162C>T (p.Pro721Leu) n.2877C>T n.2520C>T	COSMIC
19	g.11129667C>A	CA404099977	LDLR	c.2802C>A (p.Pro934=) c.613C>A (n.613C>A) c.2424C>A (p.Pro808=) c.2544C>A (p.Pro848=) c.2798C>A c.2040C>A (p.Pro680=) c.2421C>A (p.Pro807=) c.2010C>A (p.Pro670=) c.2606C>A (p.Pro869His) n.108+2013C>A c.2466C>A (p.Pro822=) c.2163C>A (p.Pro721=) n.2878C>A n.2521C>A
19	g.11129667C>G	CA404099965	LDLR	c.2802C>G (p.Pro934=) c.613C>G (n.613C>G) c.2424C>G (p.Pro808=) c.2544C>G (p.Pro848=) c.2798C>G c.2040C>G (p.Pro680=) c.2421C>G (p.Pro807=) c.2010C>G (p.Pro670=) c.2606C>G (p.Pro869Arg) n.108+2013C>G c.2466C>G (p.Pro822=) c.2163C>G (p.Pro721=) n.2878C>G n.2521C>G	gnomAD v4
19	g.11129667C>T	CA404099968	LDLR	c.2802C>T (p.Pro934=) c.613C>T (n.613C>T) c.2424C>T (p.Pro808=) c.2544C>T (p.Pro848=) c.2798C>T c.2040C>T (p.Pro680=) c.2421C>T (p.Pro807=) c.2010C>T (p.Pro670=) c.2606C>T (p.Pro869Leu) n.108+2013C>T c.2466C>T (p.Pro822=) c.2163C>T (p.Pro721=) n.2878C>T n.2521C>T
19	g.11129668T>A	CA404099979	LDLR	c.2803T>A (p.Ser935Thr) c.614T>A (n.614T>A) c.2425T>A (p.Ser809Thr) c.2545T>A (p.Ser849Thr) c.2799T>A c.2041T>A (p.Ser681Thr) c.2422T>A (p.Ser808Thr) c.2011T>A (p.Ser671Thr) c.2607T>A (p.Pro869=) n.108+2014T>A c.2467T>A (p.Ser823Thr) c.2164T>A (p.Ser722Thr) n.2879T>A n.2522T>A
19	g.11129668T>C	CA404099980	LDLR	c.2803T>C (p.Ser935Pro) c.614T>C (n.614T>C) c.2425T>C (p.Ser809Pro) c.2545T>C (p.Ser849Pro) c.2799T>C c.2041T>C (p.Ser681Pro) c.2422T>C (p.Ser808Pro) c.2011T>C (p.Ser671Pro) c.2607T>C (p.Pro869=) n.108+2014T>C c.2467T>C (p.Ser823Pro) c.2164T>C (p.Ser722Pro) n.2879T>C n.2522T>C
19	g.11129668T>G	CA404099981	LDLR	c.2803T>G (p.Ser935Ala) c.614T>G (n.614T>G) c.2425T>G (p.Ser809Ala) c.2545T>G (p.Ser849Ala) c.2799T>G c.2041T>G (p.Ser681Ala) c.2422T>G (p.Ser808Ala) c.2011T>G (p.Ser671Ala) c.2607T>G (p.Pro869=) n.108+2014T>G c.2467T>G (p.Ser823Ala) c.2164T>G (p.Ser722Ala) n.2879T>G n.2522T>G	dbSNP
19	g.11129668T=	CA2322780336	LDLR	c.2803T= (p.Ser935=) c.614T= (n.614T=) c.2425T= (p.Ser809=) c.2545T= (p.Ser849=) c.2799T= c.2041T= (p.Ser681=) c.2422T= (p.Ser808=) c.2011T= (p.Ser671=) c.2607T= (p.Pro869=) n.108+2014T= c.2467T= (p.Ser823=) c.2164T= (p.Ser722=) n.2879T= n.2522T=
19	g.11129668_11129669delinsTC	CA2322780335	LDLR	c.2803_2804delinsTC (p.Ser935=) c.614_615delinsTC (n.614_615delinsTC) c.2425_2426delinsTC (p.Ser809=) c.2545_2546delinsTC (p.Ser849=) c.2799_2800delinsTC c.2041_2042delinsTC (p.Ser681=) c.2422_2423delinsTC (p.Ser808=) c.2011_2012delinsTC (p.Ser671=) c.2607_2608delinsTC (p.Pro869=) n.108+2014_108+2015delinsTC c.2467_2468delinsTC (p.Ser823=) c.2164_2165delinsTC (p.Ser722=) n.2879_2880delinsTC n.2522_2523delinsTC
19	g.11129669del	CA10585879	LDLR	c.2804del (p.Ser935Ter) c.615del (n.615del) c.2426del (p.Ser809Ter) c.2546del (p.Ser849Ter) c.2800del c.2042del (p.Ser681Ter) c.2423del (p.Ser808Ter) c.2012del (p.Ser671Ter) c.2608del (p.Arg870GlufsTer9) n.108+2015del c.2468del (p.Ser823Ter) c.2165del (p.Ser722Ter) n.2880del n.2523del	ClinVar dbSNP
19	g.11129669C>A	CA10585878	LDLR	c.2804C>A (p.Ser935Ter) c.615C>A (n.615C>A) c.2426C>A (p.Ser809Ter) c.2546C>A (p.Ser849Ter) c.2800C>A c.2042C>A (p.Ser681Ter) c.2423C>A (p.Ser808Ter) c.2012C>A (p.Ser671Ter) c.2608C>A (p.Arg870=) n.108+2015C>A c.2468C>A (p.Ser823Ter) c.2165C>A (p.Ser722Ter) n.2880C>A n.2523C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.11129669C=	CA2322780337	LDLR	c.2804C= (p.Ser935=) c.615C= (n.615C=) c.2426C= (p.Ser809=) c.2546C= (p.Ser849=) c.2800C= c.2042C= (p.Ser681=) c.2423C= (p.Ser808=) c.2012C= (p.Ser671=) c.2608C= (p.Arg870=) n.108+2015C= c.2468C= (p.Ser823=) c.2165C= (p.Ser722=) n.2880C= n.2523C=
19	g.11129669C>G	CA404099985	LDLR	c.2804C>G (p.Ser935Trp) c.615C>G (n.615C>G) c.2426C>G (p.Ser809Trp) c.2546C>G (p.Ser849Trp) c.2800C>G c.2042C>G (p.Ser681Trp) c.2423C>G (p.Ser808Trp) c.2012C>G (p.Ser671Trp) c.2608C>G (p.Arg870Gly) n.108+2015C>G c.2468C>G (p.Ser823Trp) c.2165C>G (p.Ser722Trp) n.2880C>G n.2523C>G
19	g.11129669C>T	CA040999	LDLR	c.2804C>T (p.Ser935Leu) c.615C>T (n.615C>T) c.2426C>T (p.Ser809Leu) c.2546C>T (p.Ser849Leu) c.2800C>T c.2042C>T (p.Ser681Leu) c.2423C>T (p.Ser808Leu) c.2012C>T (p.Ser671Leu) c.2608C>T (p.Arg870Ter) n.108+2015C>T c.2468C>T (p.Ser823Leu) c.2165C>T (p.Ser722Leu) n.2880C>T n.2523C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.11129670G>A	CA404099996	LDLR	c.2805G>A (p.Ser935=) c.616G>A (n.616G>A) c.2427G>A (p.Ser809=) c.2547G>A (p.Ser849=) c.2801G>A c.2043G>A (p.Ser681=) c.2424G>A (p.Ser808=) c.2013G>A (p.Ser671=) c.2609G>A (p.Arg870Gln) n.108+2016G>A c.2469G>A (p.Ser823=) c.2166G>A (p.Ser722=) n.2881G>A n.2524G>A	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19	g.11129670G>C	CA404099999	LDLR	c.2805G>C (p.Ser935=) c.616G>C (n.616G>C) c.2427G>C (p.Ser809=) c.2547G>C (p.Ser849=) c.2801G>C c.2043G>C (p.Ser681=) c.2424G>C (p.Ser808=) c.2013G>C (p.Ser671=) c.2609G>C (p.Arg870Pro) n.108+2016G>C c.2469G>C (p.Ser823=) c.2166G>C (p.Ser722=) n.2881G>C n.2524G>C
19	g.11129670G=	CA2322780338	LDLR	c.2805G= (p.Ser935=) c.616G= (n.616G=) c.2427G= (p.Ser809=) c.2547G= (p.Ser849=) c.2801G= c.2043G= (p.Ser681=) c.2424G= (p.Ser808=) c.2013G= (p.Ser671=) c.2609G= (p.Arg870=) n.108+2016G= c.2469G= (p.Ser823=) c.2166G= (p.Ser722=) n.2881G= n.2524G=
19	g.11129670G>T	CA404100003	LDLR	c.2805G>T (p.Ser935=) c.616G>T (n.616G>T) c.2427G>T (p.Ser809=) c.2547G>T (p.Ser849=) c.2801G>T c.2043G>T (p.Ser681=) c.2424G>T (p.Ser808=) c.2013G>T (p.Ser671=) c.2609G>T (p.Arg870Leu) n.108+2016G>T c.2469G>T (p.Ser823=) c.2166G>T (p.Ser722=) n.2881G>T n.2524G>T
19	g.11129671G>A	CA10585880	LDLR	c.2805+1G>A (n.2805+1G>A) c.616+1G>A (n.616+1G>A) c.2427+1G>A (n.2427+1G>A) c.2547+1G>A (n.2547+1G>A) c.2801+1G>A c.2043+1G>A (n.2043+1G>A) c.2424+1G>A (n.2424+1G>A) c.2013+1G>A (n.2013+1G>A) c.2609+1G>A (n.2609+1G>A) n.108+2017G>A c.2469+1G>A (n.2469+1G>A) c.2166+1G>A (n.2166+1G>A) n.2881+1G>A n.2524+1G>A	ClinVar dbSNP gnomAD v4
19	g.11129671G>C	CA404100010	LDLR	c.2805+1G>C (n.2805+1G>C) c.616+1G>C (n.616+1G>C) c.2427+1G>C (n.2427+1G>C) c.2547+1G>C (n.2547+1G>C) c.2801+1G>C c.2043+1G>C (n.2043+1G>C) c.2424+1G>C (n.2424+1G>C) c.2013+1G>C (n.2013+1G>C) c.2609+1G>C (n.2609+1G>C) n.108+2017G>C c.2469+1G>C (n.2469+1G>C) c.2166+1G>C (n.2166+1G>C) n.2881+1G>C n.2524+1G>C
19	g.11129671G=	CA2322780339	LDLR	c.2805+1G= (n.2805+1G=) c.616+1G= (n.616+1G=) c.2427+1G= (n.2427+1G=) c.2547+1G= (n.2547+1G=) c.2801+1G= c.2043+1G= (n.2043+1G=) c.2424+1G= (n.2424+1G=) c.2013+1G= (n.2013+1G=) c.2609+1G= (n.2609+1G=) n.108+2017G= c.2469+1G= (n.2469+1G=) c.2166+1G= (n.2166+1G=) n.2881+1G= n.2524+1G=
19	g.11129671G>T	CA404100007	LDLR	c.2805+1G>T (n.2805+1G>T) c.616+1G>T (n.616+1G>T) c.2427+1G>T (n.2427+1G>T) c.2547+1G>T (n.2547+1G>T) c.2801+1G>T c.2043+1G>T (n.2043+1G>T) c.2424+1G>T (n.2424+1G>T) c.2013+1G>T (n.2013+1G>T) c.2609+1G>T (n.2609+1G>T) n.108+2017G>T c.2469+1G>T (n.2469+1G>T) c.2166+1G>T (n.2166+1G>T) n.2881+1G>T n.2524+1G>T	ClinVar
19	g.11129672T>A	CA404100017	LDLR	c.2805+2T>A (n.2805+2T>A) c.616+2T>A (n.616+2T>A) c.2427+2T>A (n.2427+2T>A) c.2547+2T>A (n.2547+2T>A) c.2801+2T>A c.2043+2T>A (n.2043+2T>A) c.2424+2T>A (n.2424+2T>A) c.2013+2T>A (n.2013+2T>A) c.2609+2T>A (n.2609+2T>A) n.108+2018T>A c.2469+2T>A (n.2469+2T>A) c.2166+2T>A (n.2166+2T>A) n.2881+2T>A n.2524+2T>A
19	g.11129672T>C	CA404100023	LDLR	c.2805+2T>C (n.2805+2T>C) c.616+2T>C (n.616+2T>C) c.2427+2T>C (n.2427+2T>C) c.2547+2T>C (n.2547+2T>C) c.2801+2T>C c.2043+2T>C (n.2043+2T>C) c.2424+2T>C (n.2424+2T>C) c.2013+2T>C (n.2013+2T>C) c.2609+2T>C (n.2609+2T>C) n.108+2018T>C c.2469+2T>C (n.2469+2T>C) c.2166+2T>C (n.2166+2T>C) n.2881+2T>C n.2524+2T>C	COSMIC
19	g.11129672T>G	CA404100026	LDLR	c.2805+2T>G (n.2805+2T>G) c.616+2T>G (n.616+2T>G) c.2427+2T>G (n.2427+2T>G) c.2547+2T>G (n.2547+2T>G) c.2801+2T>G c.2043+2T>G (n.2043+2T>G) c.2424+2T>G (n.2424+2T>G) c.2013+2T>G (n.2013+2T>G) c.2609+2T>G (n.2609+2T>G) n.108+2018T>G c.2469+2T>G (n.2469+2T>G) c.2166+2T>G (n.2166+2T>G) n.2881+2T>G n.2524+2T>G	ClinVar dbSNP
19	g.11129673G>A	CA2582476515	LDLR	c.2805+3G>A (n.2805+3G>A) c.616+3G>A (n.616+3G>A) c.2427+3G>A (n.2427+3G>A) c.2547+3G>A (n.2547+3G>A) c.2801+3G>A c.2043+3G>A (n.2043+3G>A) c.2424+3G>A (n.2424+3G>A) c.2013+3G>A (n.2013+3G>A) c.2609+3G>A (n.2609+3G>A) n.108+2019G>A c.2469+3G>A (n.2469+3G>A) c.2166+3G>A (n.2166+3G>A) n.2881+3G>A n.2524+3G>A	gnomAD v4
19	g.11129673G>C	CA10585881	LDLR	c.2805+3G>C (n.2805+3G>C) c.616+3G>C (n.616+3G>C) c.2427+3G>C (n.2427+3G>C) c.2547+3G>C (n.2547+3G>C) c.2801+3G>C c.2043+3G>C (n.2043+3G>C) c.2424+3G>C (n.2424+3G>C) c.2013+3G>C (n.2013+3G>C) c.2609+3G>C (n.2609+3G>C) n.108+2019G>C c.2469+3G>C (n.2469+3G>C) c.2166+3G>C (n.2166+3G>C) n.2881+3G>C n.2524+3G>C	ClinVar dbSNP gnomAD v4
19	g.11129673G=	CA2322780340	LDLR	c.2805+3G= (n.2805+3G=) c.616+3G= (n.616+3G=) c.2427+3G= (n.2427+3G=) c.2547+3G= (n.2547+3G=) c.2801+3G= c.2043+3G= (n.2043+3G=) c.2424+3G= (n.2424+3G=) c.2013+3G= (n.2013+3G=) c.2609+3G= (n.2609+3G=) n.108+2019G= c.2469+3G= (n.2469+3G=) c.2166+3G= (n.2166+3G=) n.2881+3G= n.2524+3G=

Number of alleles fetched