Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104825759G>ACA466506902ABCA1c.2466C>T (p.Thr822=)
n.639C>T
c.2286C>T (p.Thr762=)
c.2541C>T (p.Thr847=)
c.2103C>T (p.Thr701=)
c.2403C>T (p.Thr801=)
n.2854C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104825759G>CCA466506903ABCA1c.2466C>G (p.Thr822=)
n.639C>G
c.2286C>G (p.Thr762=)
c.2541C>G (p.Thr847=)
c.2103C>G (p.Thr701=)
c.2403C>G (p.Thr801=)
n.2854C>G
9g.104825759G=CA1869915052ABCA1c.2466C= (p.Thr822=)
n.639C=
c.2286C= (p.Thr762=)
c.2541C= (p.Thr847=)
c.2103C= (p.Thr701=)
c.2403C= (p.Thr801=)
n.2854C=
9g.104825759G>TCA466506904ABCA1c.2466C>A (p.Thr822=)
n.639C>A
c.2286C>A (p.Thr762=)
c.2541C>A (p.Thr847=)
c.2103C>A (p.Thr701=)
c.2403C>A (p.Thr801=)
n.2854C>A
9g.104825760G>ACA374321136ABCA1c.2465C>T (p.Thr822Ile)
n.638C>T
c.2285C>T (p.Thr762Ile)
c.2540C>T (p.Thr847Ile)
c.2102C>T (p.Thr701Ile)
c.2402C>T (p.Thr801Ile)
n.2853C>T
9g.104825760G>CCA374321137ABCA1c.2465C>G (p.Thr822Ser)
n.638C>G
c.2285C>G (p.Thr762Ser)
c.2540C>G (p.Thr847Ser)
c.2102C>G (p.Thr701Ser)
c.2402C>G (p.Thr801Ser)
n.2853C>G
9g.104825760G>TCA374321139ABCA1c.2465C>A (p.Thr822Asn)
n.638C>A
c.2285C>A (p.Thr762Asn)
c.2540C>A (p.Thr847Asn)
c.2102C>A (p.Thr701Asn)
c.2402C>A (p.Thr801Asn)
n.2853C>A
9g.104825761T>ACA374321141ABCA1c.2464A>T (p.Thr822Ser)
n.637A>T
c.2284A>T (p.Thr762Ser)
c.2539A>T (p.Thr847Ser)
c.2101A>T (p.Thr701Ser)
c.2401A>T (p.Thr801Ser)
n.2852A>T
9g.104825761T>CCA374321145ABCA1c.2464A>G (p.Thr822Ala)
n.637A>G
c.2284A>G (p.Thr762Ala)
c.2539A>G (p.Thr847Ala)
c.2101A>G (p.Thr701Ala)
c.2401A>G (p.Thr801Ala)
n.2852A>G
9g.104825761T>GCA374321143ABCA1c.2464A>C (p.Thr822Pro)
n.637A>C
c.2284A>C (p.Thr762Pro)
c.2539A>C (p.Thr847Pro)
c.2101A>C (p.Thr701Pro)
c.2401A>C (p.Thr801Pro)
n.2852A>C
 gnomAD v4
9g.104825762G>ACA466506905ABCA1c.2463C>T (p.Leu821=)
n.636C>T
c.2283C>T (p.Leu761=)
c.2538C>T (p.Leu846=)
c.2100C>T (p.Leu700=)
c.2400C>T (p.Leu800=)
n.2851C>T
9g.104825762G>CCA466506906ABCA1c.2463C>G (p.Leu821=)
n.636C>G
c.2283C>G (p.Leu761=)
c.2538C>G (p.Leu846=)
c.2100C>G (p.Leu700=)
c.2400C>G (p.Leu800=)
n.2851C>G
9g.104825762G>TCA466506907ABCA1c.2463C>A (p.Leu821=)
n.636C>A
c.2283C>A (p.Leu761=)
c.2538C>A (p.Leu846=)
c.2100C>A (p.Leu700=)
c.2400C>A (p.Leu800=)
n.2851C>A
9g.104825763A>CCA374321146ABCA1c.2462T>G (p.Leu821Arg)
n.635T>G
c.2282T>G (p.Leu761Arg)
c.2537T>G (p.Leu846Arg)
c.2099T>G (p.Leu700Arg)
c.2399T>G (p.Leu800Arg)
n.2850T>G
9g.104825763A>GCA374321148ABCA1c.2462T>C (p.Leu821Pro)
n.635T>C
c.2282T>C (p.Leu761Pro)
c.2537T>C (p.Leu846Pro)
c.2099T>C (p.Leu700Pro)
c.2399T>C (p.Leu800Pro)
n.2850T>C
9g.104825763A>TCA374321149ABCA1c.2462T>A (p.Leu821His)
n.635T>A
c.2282T>A (p.Leu761His)
c.2537T>A (p.Leu846His)
c.2099T>A (p.Leu700His)
c.2399T>A (p.Leu800His)
n.2850T>A
9g.104825764G>ACA374321151ABCA1c.2461C>T (p.Leu821Phe)
n.634C>T
c.2281C>T (p.Leu761Phe)
c.2536C>T (p.Leu846Phe)
c.2098C>T (p.Leu700Phe)
c.2398C>T (p.Leu800Phe)
n.2849C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104825764G>CCA374321153ABCA1c.2461C>G (p.Leu821Val)
n.634C>G
c.2281C>G (p.Leu761Val)
c.2536C>G (p.Leu846Val)
c.2098C>G (p.Leu700Val)
c.2398C>G (p.Leu800Val)
n.2849C>G
 gnomAD v4
9g.104825764G=CA1869915054ABCA1c.2461C= (p.Leu821=)
n.634C=
c.2281C= (p.Leu761=)
c.2536C= (p.Leu846=)
c.2098C= (p.Leu700=)
c.2398C= (p.Leu800=)
n.2849C=
9g.104825764G>TCA374321154ABCA1c.2461C>A (p.Leu821Ile)
n.634C>A
c.2281C>A (p.Leu761Ile)
c.2536C>A (p.Leu846Ile)
c.2098C>A (p.Leu700Ile)
c.2398C>A (p.Leu800Ile)
n.2849C>A
9g.104825765A>CCA374321156ABCA1c.2460T>G (p.Asn820Lys)
n.633T>G
c.2280T>G (p.Asn760Lys)
c.2535T>G (p.Asn845Lys)
c.2097T>G (p.Asn699Lys)
c.2397T>G (p.Asn799Lys)
n.2848T>G
9g.104825765A>GCA466506908ABCA1c.2460T>C (p.Asn820=)
n.633T>C
c.2280T>C (p.Asn760=)
c.2535T>C (p.Asn845=)
c.2097T>C (p.Asn699=)
c.2397T>C (p.Asn799=)
n.2848T>C
9g.104825765A>TCA374321157ABCA1c.2460T>A (p.Asn820Lys)
n.633T>A
c.2280T>A (p.Asn760Lys)
c.2535T>A (p.Asn845Lys)
c.2097T>A (p.Asn699Lys)
c.2397T>A (p.Asn799Lys)
n.2848T>A
9g.104825766T>ACA374321158ABCA1c.2459A>T (p.Asn820Ile)
n.632A>T
c.2279A>T (p.Asn760Ile)
c.2534A>T (p.Asn845Ile)
c.2096A>T (p.Asn699Ile)
c.2396A>T (p.Asn799Ile)
n.2847A>T
9g.104825766T>CCA5168727ABCA1c.2459A>G (p.Asn820Ser)
n.632A>G
c.2279A>G (p.Asn760Ser)
c.2534A>G (p.Asn845Ser)
c.2096A>G (p.Asn699Ser)
c.2396A>G (p.Asn799Ser)
n.2847A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825766T>GCA374321159ABCA1c.2459A>C (p.Asn820Thr)
n.632A>C
c.2279A>C (p.Asn760Thr)
c.2534A>C (p.Asn845Thr)
c.2096A>C (p.Asn699Thr)
c.2396A>C (p.Asn799Thr)
n.2847A>C
9g.104825766T=CA1869915056ABCA1c.2459A= (p.Asn820=)
n.632A=
c.2279A= (p.Asn760=)
c.2534A= (p.Asn845=)
c.2096A= (p.Asn699=)
c.2396A= (p.Asn799=)
n.2847A=
9g.104825767T>ACA374321161ABCA1c.2458A>T (p.Asn820Tyr)
n.631A>T
c.2278A>T (p.Asn760Tyr)
c.2533A>T (p.Asn845Tyr)
c.2095A>T (p.Asn699Tyr)
c.2395A>T (p.Asn799Tyr)
n.2846A>T
9g.104825767T>CCA374321165ABCA1c.2458A>G (p.Asn820Asp)
n.631A>G
c.2278A>G (p.Asn760Asp)
c.2533A>G (p.Asn845Asp)
c.2095A>G (p.Asn699Asp)
c.2395A>G (p.Asn799Asp)
n.2846A>G
9g.104825767T>GCA374321163ABCA1c.2458A>C (p.Asn820His)
n.631A>C
c.2278A>C (p.Asn760His)
c.2533A>C (p.Asn845His)
c.2095A>C (p.Asn699His)
c.2395A>C (p.Asn799His)
n.2846A>C
9g.104825768G>ACA5168728ABCA1c.2457C>T (p.Phe819=)
n.630C>T
c.2277C>T (p.Phe759=)
c.2532C>T (p.Phe844=)
c.2094C>T (p.Phe698=)
c.2394C>T (p.Phe798=)
n.2845C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825768G>CCA374321167ABCA1c.2457C>G (p.Phe819Leu)
n.630C>G
c.2277C>G (p.Phe759Leu)
c.2532C>G (p.Phe844Leu)
c.2094C>G (p.Phe698Leu)
c.2394C>G (p.Phe798Leu)
n.2845C>G
9g.104825768G=CA1869915061ABCA1c.2457C= (p.Phe819=)
n.630C=
c.2277C= (p.Phe759=)
c.2532C= (p.Phe844=)
c.2094C= (p.Phe698=)
c.2394C= (p.Phe798=)
n.2845C=
9g.104825768G>TCA374321169ABCA1c.2457C>A (p.Phe819Leu)
n.630C>A
c.2277C>A (p.Phe759Leu)
c.2532C>A (p.Phe844Leu)
c.2094C>A (p.Phe698Leu)
c.2394C>A (p.Phe798Leu)
n.2845C>A
9g.104825769A>CCA374321170ABCA1c.2456T>G (p.Phe819Cys)
n.629T>G
c.2276T>G (p.Phe759Cys)
c.2531T>G (p.Phe844Cys)
c.2093T>G (p.Phe698Cys)
c.2393T>G (p.Phe798Cys)
n.2844T>G
9g.104825769A>GCA374321172ABCA1c.2456T>C (p.Phe819Ser)
n.629T>C
c.2276T>C (p.Phe759Ser)
c.2531T>C (p.Phe844Ser)
c.2093T>C (p.Phe698Ser)
c.2393T>C (p.Phe798Ser)
n.2844T>C
 COSMIC
9g.104825769A>TCA374321176ABCA1c.2456T>A (p.Phe819Tyr)
n.629T>A
c.2276T>A (p.Phe759Tyr)
c.2531T>A (p.Phe844Tyr)
c.2093T>A (p.Phe698Tyr)
c.2393T>A (p.Phe798Tyr)
n.2844T>A
9g.104825769_104825772dupCA2691055770ABCA1c.2453_2456dup (p.Phe819LeufsTer14)
n.626_629dup
c.2273_2276dup (p.Phe759LeufsTer14)
c.2528_2531dup (p.Phe844LeufsTer14)
c.2090_2093dup (p.Phe698LeufsTer14)
c.2390_2393dup (p.Phe798LeufsTer14)
n.2841_2844dup
 gnomAD v4
9g.104825770A>CCA374321182ABCA1c.2455T>G (p.Phe819Val)
n.628T>G
c.2275T>G (p.Phe759Val)
c.2530T>G (p.Phe844Val)
c.2092T>G (p.Phe698Val)
c.2392T>G (p.Phe798Val)
n.2843T>G
9g.104825770A>GCA374321179ABCA1c.2455T>C (p.Phe819Leu)
n.628T>C
c.2275T>C (p.Phe759Leu)
c.2530T>C (p.Phe844Leu)
c.2092T>C (p.Phe698Leu)
c.2392T>C (p.Phe798Leu)
n.2843T>C
9g.104825770A>TCA374321177ABCA1c.2455T>A (p.Phe819Ile)
n.628T>A
c.2275T>A (p.Phe759Ile)
c.2530T>A (p.Phe844Ile)
c.2092T>A (p.Phe698Ile)
c.2392T>A (p.Phe798Ile)
n.2843T>A
9g.104825771G>ACA466506911ABCA1c.2454C>T (p.Gly818=)
n.627C>T
c.2274C>T (p.Gly758=)
c.2529C>T (p.Gly843=)
c.2091C>T (p.Gly697=)
c.2391C>T (p.Gly797=)
n.2842C>T
9g.104825771G>CCA466506910ABCA1c.2454C>G (p.Gly818=)
n.627C>G
c.2274C>G (p.Gly758=)
c.2529C>G (p.Gly843=)
c.2091C>G (p.Gly697=)
c.2391C>G (p.Gly797=)
n.2842C>G
9g.104825771G>TCA466506909ABCA1c.2454C>A (p.Gly818=)
n.627C>A
c.2274C>A (p.Gly758=)
c.2529C>A (p.Gly843=)
c.2091C>A (p.Gly697=)
c.2391C>A (p.Gly797=)
n.2842C>A
9g.104825772C>ACA374321183ABCA1c.2453G>T (p.Gly818Val)
n.626G>T
c.2273G>T (p.Gly758Val)
c.2528G>T (p.Gly843Val)
c.2090G>T (p.Gly697Val)
c.2390G>T (p.Gly797Val)
n.2841G>T
9g.104825772C>GCA374321184ABCA1c.2453G>C (p.Gly818Ala)
n.626G>C
c.2273G>C (p.Gly758Ala)
c.2528G>C (p.Gly843Ala)
c.2090G>C (p.Gly697Ala)
c.2390G>C (p.Gly797Ala)
n.2841G>C
9g.104825772C>TCA374321185ABCA1c.2453G>A (p.Gly818Asp)
n.626G>A
c.2273G>A (p.Gly758Asp)
c.2528G>A (p.Gly843Asp)
c.2090G>A (p.Gly697Asp)
c.2390G>A (p.Gly797Asp)
n.2841G>A
9g.104825773C>ACA374321186ABCA1c.2452G>T (p.Gly818Cys)
n.625G>T
c.2272G>T (p.Gly758Cys)
c.2527G>T (p.Gly843Cys)
c.2089G>T (p.Gly697Cys)
c.2389G>T (p.Gly797Cys)
n.2840G>T
9g.104825773C>GCA374321187ABCA1c.2452G>C (p.Gly818Arg)
n.625G>C
c.2272G>C (p.Gly758Arg)
c.2527G>C (p.Gly843Arg)
c.2089G>C (p.Gly697Arg)
c.2389G>C (p.Gly797Arg)
n.2840G>C
9g.104825773C>TCA374321188ABCA1c.2452G>A (p.Gly818Ser)
n.625G>A
c.2272G>A (p.Gly758Ser)
c.2527G>A (p.Gly843Ser)
c.2089G>A (p.Gly697Ser)
c.2389G>A (p.Gly797Ser)
n.2840G>A
9g.104825774A=CA1869915064ABCA1c.2451T= (p.Asp817=)
n.624T=
c.2271T= (p.Asp757=)
c.2526T= (p.Asp842=)
c.2088T= (p.Asp696=)
c.2388T= (p.Asp796=)
n.2839T=
9g.104825774A>CCA374321189ABCA1c.2451T>G (p.Asp817Glu)
n.624T>G
c.2271T>G (p.Asp757Glu)
c.2526T>G (p.Asp842Glu)
c.2088T>G (p.Asp696Glu)
c.2388T>G (p.Asp796Glu)
n.2839T>G
9g.104825774A>GCA5168729ABCA1c.2451T>C (p.Asp817=)
n.624T>C
c.2271T>C (p.Asp757=)
c.2526T>C (p.Asp842=)
c.2088T>C (p.Asp696=)
c.2388T>C (p.Asp796=)
n.2839T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825774A>TCA374321190ABCA1c.2451T>A (p.Asp817Glu)
n.624T>A
c.2271T>A (p.Asp757Glu)
c.2526T>A (p.Asp842Glu)
c.2088T>A (p.Asp696Glu)
c.2388T>A (p.Asp796Glu)
n.2839T>A
9g.104825775T>ACA374321192ABCA1c.2450A>T (p.Asp817Val)
n.623A>T
c.2270A>T (p.Asp757Val)
c.2525A>T (p.Asp842Val)
c.2087A>T (p.Asp696Val)
c.2387A>T (p.Asp796Val)
n.2838A>T
9g.104825775T>CCA374321194ABCA1c.2450A>G (p.Asp817Gly)
n.623A>G
c.2270A>G (p.Asp757Gly)
c.2525A>G (p.Asp842Gly)
c.2087A>G (p.Asp696Gly)
c.2387A>G (p.Asp796Gly)
n.2838A>G
 gnomAD v4
9g.104825775T>GCA374321195ABCA1c.2450A>C (p.Asp817Ala)
n.623A>C
c.2270A>C (p.Asp757Ala)
c.2525A>C (p.Asp842Ala)
c.2087A>C (p.Asp696Ala)
c.2387A>C (p.Asp796Ala)
n.2838A>C
9g.104825776C>ACA374321197ABCA1c.2449G>T (p.Asp817Tyr)
n.622G>T
c.2269G>T (p.Asp757Tyr)
c.2524G>T (p.Asp842Tyr)
c.2086G>T (p.Asp696Tyr)
c.2386G>T (p.Asp796Tyr)
n.2837G>T
9g.104825776C>GCA374321200ABCA1c.2449G>C (p.Asp817His)
n.622G>C
c.2269G>C (p.Asp757His)
c.2524G>C (p.Asp842His)
c.2086G>C (p.Asp696His)
c.2386G>C (p.Asp796His)
n.2837G>C
9g.104825776C>TCA374321202ABCA1c.2449G>A (p.Asp817Asn)
n.622G>A
c.2269G>A (p.Asp757Asn)
c.2524G>A (p.Asp842Asn)
c.2086G>A (p.Asp696Asn)
c.2386G>A (p.Asp796Asn)
n.2837G>A
 gnomAD v4
9g.104825777T>ACA374321203ABCA1c.2448A>T (p.Glu816Asp)
n.621A>T
c.2268A>T (p.Glu756Asp)
c.2523A>T (p.Glu841Asp)
c.2085A>T (p.Glu695Asp)
c.2385A>T (p.Glu795Asp)
n.2836A>T
9g.104825777T>CCA466506912ABCA1c.2448A>G (p.Glu816=)
n.621A>G
c.2268A>G (p.Glu756=)
c.2523A>G (p.Glu841=)
c.2085A>G (p.Glu695=)
c.2385A>G (p.Glu795=)
n.2836A>G
 gnomAD v4
9g.104825777T>GCA374321205ABCA1c.2448A>C (p.Glu816Asp)
n.621A>C
c.2268A>C (p.Glu756Asp)
c.2523A>C (p.Glu841Asp)
c.2085A>C (p.Glu695Asp)
c.2385A>C (p.Glu795Asp)
n.2836A>C
9g.104825778T>ACA374321207ABCA1c.2447A>T (p.Glu816Val)
n.620A>T
c.2267A>T (p.Glu756Val)
c.2522A>T (p.Glu841Val)
c.2084A>T (p.Glu695Val)
c.2384A>T (p.Glu795Val)
n.2835A>T
9g.104825778T>CCA374321209ABCA1c.2447A>G (p.Glu816Gly)
n.620A>G
c.2267A>G (p.Glu756Gly)
c.2522A>G (p.Glu841Gly)
c.2084A>G (p.Glu695Gly)
c.2384A>G (p.Glu795Gly)
n.2835A>G
9g.104825778T>GCA374321211ABCA1c.2447A>C (p.Glu816Ala)
n.620A>C
c.2267A>C (p.Glu756Ala)
c.2522A>C (p.Glu841Ala)
c.2084A>C (p.Glu695Ala)
c.2384A>C (p.Glu795Ala)
n.2835A>C
9g.104825779C>ACA374321212ABCA1c.2446G>T (p.Glu816Ter)
n.619G>T
c.2266G>T (p.Glu756Ter)
c.2521G>T (p.Glu841Ter)
c.2083G>T (p.Glu695Ter)
c.2383G>T (p.Glu795Ter)
n.2834G>T
9g.104825779C>GCA374321217ABCA1c.2446G>C (p.Glu816Gln)
n.619G>C
c.2266G>C (p.Glu756Gln)
c.2521G>C (p.Glu841Gln)
c.2083G>C (p.Glu695Gln)
c.2383G>C (p.Glu795Gln)
n.2834G>C
9g.104825779C>TCA374321214ABCA1c.2446G>A (p.Glu816Lys)
n.619G>A
c.2266G>A (p.Glu756Lys)
c.2521G>A (p.Glu841Lys)
c.2083G>A (p.Glu695Lys)
c.2383G>A (p.Glu795Lys)
n.2834G>A
9g.104825780C>ACA197392918ABCA1c.2445G>T (p.Glu815Asp)
n.618G>T
c.2265G>T (p.Glu755Asp)
c.2520G>T (p.Glu840Asp)
c.2082G>T (p.Glu694Asp)
c.2382G>T (p.Glu794Asp)
n.2833G>T
 dbSNP gnomAD v4
9g.104825780C=CA1869915068ABCA1c.2445G= (p.Glu815=)
n.618G=
c.2265G= (p.Glu755=)
c.2520G= (p.Glu840=)
c.2082G= (p.Glu694=)
c.2382G= (p.Glu794=)
n.2833G=
9g.104825780C>GCA374321218ABCA1c.2445G>C (p.Glu815Asp)
n.618G>C
c.2265G>C (p.Glu755Asp)
c.2520G>C (p.Glu840Asp)
c.2082G>C (p.Glu694Asp)
c.2382G>C (p.Glu794Asp)
n.2833G>C
9g.104825780C>TCA466506913ABCA1c.2445G>A (p.Glu815=)
n.618G>A
c.2265G>A (p.Glu755=)
c.2520G>A (p.Glu840=)
c.2082G>A (p.Glu694=)
c.2382G>A (p.Glu794=)
n.2833G>A
 dbSNP
9g.104825781T>ACA374321220ABCA1c.2444A>T (p.Glu815Val)
n.617A>T
c.2264A>T (p.Glu755Val)
c.2519A>T (p.Glu840Val)
c.2081A>T (p.Glu694Val)
c.2381A>T (p.Glu794Val)
n.2832A>T
9g.104825781T>CCA5168730ABCA1c.2444A>G (p.Glu815Gly)
n.617A>G
c.2264A>G (p.Glu755Gly)
c.2519A>G (p.Glu840Gly)
c.2081A>G (p.Glu694Gly)
c.2381A>G (p.Glu794Gly)
n.2832A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825781T>GCA374321222ABCA1c.2444A>C (p.Glu815Ala)
n.617A>C
c.2264A>C (p.Glu755Ala)
c.2519A>C (p.Glu840Ala)
c.2081A>C (p.Glu694Ala)
c.2381A>C (p.Glu794Ala)
n.2832A>C
9g.104825781T=CA1869915072ABCA1c.2444A= (p.Glu815=)
n.617A=
c.2264A= (p.Glu755=)
c.2519A= (p.Glu840=)
c.2081A= (p.Glu694=)
c.2381A= (p.Glu794=)
n.2832A=
9g.104825782C>ACA374321225ABCA1c.2443G>T (p.Glu815Ter)
n.616G>T
c.2263G>T (p.Glu755Ter)
c.2518G>T (p.Glu840Ter)
c.2080G>T (p.Glu694Ter)
c.2380G>T (p.Glu794Ter)
n.2831G>T
9g.104825782C>GCA374321226ABCA1c.2443G>C (p.Glu815Gln)
n.616G>C
c.2263G>C (p.Glu755Gln)
c.2518G>C (p.Glu840Gln)
c.2080G>C (p.Glu694Gln)
c.2380G>C (p.Glu794Gln)
n.2831G>C
9g.104825782C>TCA374321228ABCA1c.2443G>A (p.Glu815Lys)
n.616G>A
c.2263G>A (p.Glu755Lys)
c.2518G>A (p.Glu840Lys)
c.2080G>A (p.Glu694Lys)
c.2380G>A (p.Glu794Lys)
n.2831G>A
9g.104825783C>ACA466506914ABCA1c.2442G>T (p.Val814=)
n.615G>T
c.2262G>T (p.Val754=)
c.2517G>T (p.Val839=)
c.2079G>T (p.Val693=)
c.2379G>T (p.Val793=)
n.2830G>T
9g.104825783C=CA1869915078ABCA1c.2442G= (p.Val814=)
n.615G=
c.2262G= (p.Val754=)
c.2517G= (p.Val839=)
c.2079G= (p.Val693=)
c.2379G= (p.Val793=)
n.2830G=
9g.104825783C>GCA466506915ABCA1c.2442G>C (p.Val814=)
n.615G>C
c.2262G>C (p.Val754=)
c.2517G>C (p.Val839=)
c.2079G>C (p.Val693=)
c.2379G>C (p.Val793=)
n.2830G>C
9g.104825783C>TCA5168731ABCA1c.2442G>A (p.Val814=)
n.615G>A
c.2262G>A (p.Val754=)
c.2517G>A (p.Val839=)
c.2079G>A (p.Val693=)
c.2379G>A (p.Val793=)
n.2830G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825784A>CCA374321231ABCA1c.2441T>G (p.Val814Gly)
n.614T>G
c.2261T>G (p.Val754Gly)
c.2516T>G (p.Val839Gly)
c.2078T>G (p.Val693Gly)
c.2378T>G (p.Val793Gly)
n.2829T>G
9g.104825784A>GCA374321232ABCA1c.2441T>C (p.Val814Ala)
n.614T>C
c.2261T>C (p.Val754Ala)
c.2516T>C (p.Val839Ala)
c.2078T>C (p.Val693Ala)
c.2378T>C (p.Val793Ala)
n.2829T>C
9g.104825784A>TCA374321234ABCA1c.2441T>A (p.Val814Glu)
n.614T>A
c.2261T>A (p.Val754Glu)
c.2516T>A (p.Val839Glu)
c.2078T>A (p.Val693Glu)
c.2378T>A (p.Val793Glu)
n.2829T>A
9g.104825785C>ACA374321238ABCA1c.2440G>T (p.Val814Leu)
n.613G>T
c.2260G>T (p.Val754Leu)
c.2515G>T (p.Val839Leu)
c.2077G>T (p.Val693Leu)
c.2377G>T (p.Val793Leu)
n.2828G>T
 dbSNP gnomAD v4
9g.104825785C=CA1869915083ABCA1c.2440G= (p.Val814=)
n.613G=
c.2260G= (p.Val754=)
c.2515G= (p.Val839=)
c.2077G= (p.Val693=)
c.2377G= (p.Val793=)
n.2828G=
9g.104825785C>GCA374321236ABCA1c.2440G>C (p.Val814Leu)
n.613G>C
c.2260G>C (p.Val754Leu)
c.2515G>C (p.Val839Leu)
c.2077G>C (p.Val693Leu)
c.2377G>C (p.Val793Leu)
n.2828G>C
9g.104825785C>TCA5168732ABCA1c.2440G>A (p.Val814Met)
n.613G>A
c.2260G>A (p.Val754Met)
c.2515G>A (p.Val839Met)
c.2077G>A (p.Val693Met)
c.2377G>A (p.Val793Met)
n.2828G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825786A=CA1869915087ABCA1c.2439T= (p.Pro813=)
n.612T=
c.2259T= (p.Pro753=)
c.2514T= (p.Pro838=)
c.2076T= (p.Pro692=)
c.2376T= (p.Pro792=)
n.2827T=
9g.104825786A>CCA466506918ABCA1c.2439T>G (p.Pro813=)
n.612T>G
c.2259T>G (p.Pro753=)
c.2514T>G (p.Pro838=)
c.2076T>G (p.Pro692=)
c.2376T>G (p.Pro792=)
n.2827T>G
9g.104825786A>GCA5168733ABCA1c.2439T>C (p.Pro813=)
n.612T>C
c.2259T>C (p.Pro753=)
c.2514T>C (p.Pro838=)
c.2076T>C (p.Pro692=)
c.2376T>C (p.Pro792=)
n.2827T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825786A>TCA466506919ABCA1c.2439T>A (p.Pro813=)
n.612T>A
c.2259T>A (p.Pro753=)
c.2514T>A (p.Pro838=)
c.2076T>A (p.Pro692=)
c.2376T>A (p.Pro792=)
n.2827T>A
9g.104825787G>ACA374321241ABCA1c.2438C>T (p.Pro813Leu)
n.611C>T
c.2258C>T (p.Pro753Leu)
c.2513C>T (p.Pro838Leu)
c.2075C>T (p.Pro692Leu)
c.2375C>T (p.Pro792Leu)
n.2826C>T
 COSMIC
9g.104825787G>CCA374321242ABCA1c.2438C>G (p.Pro813Arg)
n.611C>G
c.2258C>G (p.Pro753Arg)
c.2513C>G (p.Pro838Arg)
c.2075C>G (p.Pro692Arg)
c.2375C>G (p.Pro792Arg)
n.2826C>G
9g.104825787G>TCA374321243ABCA1c.2438C>A (p.Pro813His)
n.611C>A
c.2258C>A (p.Pro753His)
c.2513C>A (p.Pro838His)
c.2075C>A (p.Pro692His)
c.2375C>A (p.Pro792His)
n.2826C>A
 COSMIC
9g.104825788G>ACA374321246ABCA1c.2437C>T (p.Pro813Ser)
n.610C>T
c.2257C>T (p.Pro753Ser)
c.2512C>T (p.Pro838Ser)
c.2074C>T (p.Pro692Ser)
c.2374C>T (p.Pro792Ser)
n.2825C>T
 dbSNP
9g.104825788G>CCA374321247ABCA1c.2437C>G (p.Pro813Ala)
n.610C>G
c.2257C>G (p.Pro753Ala)
c.2512C>G (p.Pro838Ala)
c.2074C>G (p.Pro692Ala)
c.2374C>G (p.Pro792Ala)
n.2825C>G
 dbSNP gnomAD v4
9g.104825788G=CA1869915097ABCA1c.2437C= (p.Pro813=)
n.610C=
c.2257C= (p.Pro753=)
c.2512C= (p.Pro838=)
c.2074C= (p.Pro692=)
c.2374C= (p.Pro792=)
n.2825C=
9g.104825788G>TCA374321249ABCA1c.2437C>A (p.Pro813Thr)
n.610C>A
c.2257C>A (p.Pro753Thr)
c.2512C>A (p.Pro838Thr)
c.2074C>A (p.Pro692Thr)
c.2374C>A (p.Pro792Thr)
n.2825C>A
9g.104825789A>CCA374321251ABCA1c.2436T>G (p.Ser812Arg)
n.609T>G
c.2256T>G (p.Ser752Arg)
c.2511T>G (p.Ser837Arg)
c.2073T>G (p.Ser691Arg)
c.2373T>G (p.Ser791Arg)
n.2824T>G
9g.104825789A>GCA466506920ABCA1c.2436T>C (p.Ser812=)
n.609T>C
c.2256T>C (p.Ser752=)
c.2511T>C (p.Ser837=)
c.2073T>C (p.Ser691=)
c.2373T>C (p.Ser791=)
n.2824T>C
9g.104825789A>TCA374321253ABCA1c.2436T>A (p.Ser812Arg)
n.609T>A
c.2256T>A (p.Ser752Arg)
c.2511T>A (p.Ser837Arg)
c.2073T>A (p.Ser691Arg)
c.2373T>A (p.Ser791Arg)
n.2824T>A
9g.104825790C>ACA374321254ABCA1c.2435G>T (p.Ser812Ile)
n.608G>T
c.2255G>T (p.Ser752Ile)
c.2510G>T (p.Ser837Ile)
c.2072G>T (p.Ser691Ile)
c.2372G>T (p.Ser791Ile)
n.2823G>T
9g.104825790C=CA1869915100ABCA1c.2435G= (p.Ser812=)
n.608G=
c.2255G= (p.Ser752=)
c.2510G= (p.Ser837=)
c.2072G= (p.Ser691=)
c.2372G= (p.Ser791=)
n.2823G=
9g.104825790C>GCA374321256ABCA1c.2435G>C (p.Ser812Thr)
n.608G>C
c.2255G>C (p.Ser752Thr)
c.2510G>C (p.Ser837Thr)
c.2072G>C (p.Ser691Thr)
c.2372G>C (p.Ser791Thr)
n.2823G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825790C>TCA374321257ABCA1c.2435G>A (p.Ser812Asn)
n.608G>A
c.2255G>A (p.Ser752Asn)
c.2510G>A (p.Ser837Asn)
c.2072G>A (p.Ser691Asn)
c.2372G>A (p.Ser791Asn)
n.2823G>A
9g.104825791T>ACA374321260ABCA1c.2434A>T (p.Ser812Cys)
n.607A>T
c.2254A>T (p.Ser752Cys)
c.2509A>T (p.Ser837Cys)
c.2071A>T (p.Ser691Cys)
c.2371A>T (p.Ser791Cys)
n.2822A>T
 dbSNP
9g.104825791T>CCA374321261ABCA1c.2434A>G (p.Ser812Gly)
n.607A>G
c.2254A>G (p.Ser752Gly)
c.2509A>G (p.Ser837Gly)
c.2071A>G (p.Ser691Gly)
c.2371A>G (p.Ser791Gly)
n.2822A>G
9g.104825791T>GCA374321258ABCA1c.2434A>C (p.Ser812Arg)
n.607A>C
c.2254A>C (p.Ser752Arg)
c.2509A>C (p.Ser837Arg)
c.2071A>C (p.Ser691Arg)
c.2371A>C (p.Ser791Arg)
n.2822A>C
9g.104825791T=CA1869915104ABCA1c.2434A= (p.Ser812=)
n.607A=
c.2254A= (p.Ser752=)
c.2509A= (p.Ser837=)
c.2071A= (p.Ser691=)
c.2371A= (p.Ser791=)
n.2822A=
9g.104825792C>ACA374321264ABCA1c.2433G>T (p.Glu811Asp)
n.606G>T
c.2253G>T (p.Glu751Asp)
c.2508G>T (p.Glu836Asp)
c.2070G>T (p.Glu690Asp)
c.2370G>T (p.Glu790Asp)
n.2821G>T
9g.104825792C>GCA374321263ABCA1c.2433G>C (p.Glu811Asp)
n.606G>C
c.2253G>C (p.Glu751Asp)
c.2508G>C (p.Glu836Asp)
c.2070G>C (p.Glu690Asp)
c.2370G>C (p.Glu790Asp)
n.2821G>C
9g.104825792C>TCA466506921ABCA1c.2433G>A (p.Glu811=)
n.606G>A
c.2253G>A (p.Glu751=)
c.2508G>A (p.Glu836=)
c.2070G>A (p.Glu690=)
c.2370G>A (p.Glu790=)
n.2821G>A
9g.104825793T>ACA374321269ABCA1c.2432A>T (p.Glu811Val)
n.605A>T
c.2252A>T (p.Glu751Val)
c.2507A>T (p.Glu836Val)
c.2069A>T (p.Glu690Val)
c.2369A>T (p.Glu790Val)
n.2820A>T
9g.104825793T>CCA374321266ABCA1c.2432A>G (p.Glu811Gly)
n.605A>G
c.2252A>G (p.Glu751Gly)
c.2507A>G (p.Glu836Gly)
c.2069A>G (p.Glu690Gly)
c.2369A>G (p.Glu790Gly)
n.2820A>G
 gnomAD v4
9g.104825793T>GCA374321268ABCA1c.2432A>C (p.Glu811Ala)
n.605A>C
c.2252A>C (p.Glu751Ala)
c.2507A>C (p.Glu836Ala)
c.2069A>C (p.Glu690Ala)
c.2369A>C (p.Glu790Ala)
n.2820A>C
9g.104825794C>ACA374321271ABCA1c.2431G>T (p.Glu811Ter)
n.604G>T
c.2251G>T (p.Glu751Ter)
c.2506G>T (p.Glu836Ter)
c.2068G>T (p.Glu690Ter)
c.2368G>T (p.Glu790Ter)
n.2819G>T
9g.104825794C>GCA374321273ABCA1c.2431G>C (p.Glu811Gln)
n.604G>C
c.2251G>C (p.Glu751Gln)
c.2506G>C (p.Glu836Gln)
c.2068G>C (p.Glu690Gln)
c.2368G>C (p.Glu790Gln)
n.2819G>C
9g.104825794C>TCA374321275ABCA1c.2431G>A (p.Glu811Lys)
n.604G>A
c.2251G>A (p.Glu751Lys)
c.2506G>A (p.Glu836Lys)
c.2068G>A (p.Glu690Lys)
c.2368G>A (p.Glu790Lys)
n.2819G>A
9g.104825795A>CCA374321277ABCA1c.2430T>G (p.Phe810Leu)
n.603T>G
c.2250T>G (p.Phe750Leu)
c.2505T>G (p.Phe835Leu)
c.2067T>G (p.Phe689Leu)
c.2367T>G (p.Phe789Leu)
n.2818T>G
9g.104825795A>GCA466506922ABCA1c.2430T>C (p.Phe810=)
n.603T>C
c.2250T>C (p.Phe750=)
c.2505T>C (p.Phe835=)
c.2067T>C (p.Phe689=)
c.2367T>C (p.Phe789=)
n.2818T>C
9g.104825795A>TCA374321278ABCA1c.2430T>A (p.Phe810Leu)
n.603T>A
c.2250T>A (p.Phe750Leu)
c.2505T>A (p.Phe835Leu)
c.2067T>A (p.Phe689Leu)
c.2367T>A (p.Phe789Leu)
n.2818T>A
9g.104825796A>CCA374321279ABCA1c.2429T>G (p.Phe810Cys)
n.602T>G
c.2249T>G (p.Phe750Cys)
c.2504T>G (p.Phe835Cys)
c.2066T>G (p.Phe689Cys)
c.2366T>G (p.Phe789Cys)
n.2817T>G
9g.104825796A>GCA374321282ABCA1c.2429T>C (p.Phe810Ser)
n.602T>C
c.2249T>C (p.Phe750Ser)
c.2504T>C (p.Phe835Ser)
c.2066T>C (p.Phe689Ser)
c.2366T>C (p.Phe789Ser)
n.2817T>C
9g.104825796A>TCA374321280ABCA1c.2429T>A (p.Phe810Tyr)
n.602T>A
c.2249T>A (p.Phe750Tyr)
c.2504T>A (p.Phe835Tyr)
c.2066T>A (p.Phe689Tyr)
c.2366T>A (p.Phe789Tyr)
n.2817T>A
9g.104825797A>CCA374321284ABCA1c.2428T>G (p.Phe810Val)
n.601T>G
c.2248T>G (p.Phe750Val)
c.2503T>G (p.Phe835Val)
c.2065T>G (p.Phe689Val)
c.2365T>G (p.Phe789Val)
n.2816T>G
9g.104825797A>GCA374321286ABCA1c.2428T>C (p.Phe810Leu)
n.601T>C
c.2248T>C (p.Phe750Leu)
c.2503T>C (p.Phe835Leu)
c.2065T>C (p.Phe689Leu)
c.2365T>C (p.Phe789Leu)
n.2816T>C
9g.104825797A>TCA374321288ABCA1c.2428T>A (p.Phe810Ile)
n.601T>A
c.2248T>A (p.Phe750Ile)
c.2503T>A (p.Phe835Ile)
c.2065T>A (p.Phe689Ile)
c.2365T>A (p.Phe789Ile)
n.2816T>A
9g.104825798C>ACA466506923ABCA1c.2427G>T (p.Leu809=)
n.600G>T
c.2247G>T (p.Leu749=)
c.2502G>T (p.Leu834=)
c.2064G>T (p.Leu688=)
c.2364G>T (p.Leu788=)
n.2815G>T
 gnomAD v4
9g.104825798C=CA1869915109ABCA1c.2427G= (p.Leu809=)
n.600G=
c.2247G= (p.Leu749=)
c.2502G= (p.Leu834=)
c.2064G= (p.Leu688=)
c.2364G= (p.Leu788=)
n.2815G=
9g.104825798C>GCA466506924ABCA1c.2427G>C (p.Leu809=)
n.600G>C
c.2247G>C (p.Leu749=)
c.2502G>C (p.Leu834=)
c.2064G>C (p.Leu688=)
c.2364G>C (p.Leu788=)
n.2815G>C
9g.104825798C>TCA5168734ABCA1c.2427G>A (p.Leu809=)
n.600G>A
c.2247G>A (p.Leu749=)
c.2502G>A (p.Leu834=)
c.2064G>A (p.Leu688=)
c.2364G>A (p.Leu788=)
n.2815G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825799A>CCA374321294ABCA1c.2426T>G (p.Leu809Arg)
n.599T>G
c.2246T>G (p.Leu749Arg)
c.2501T>G (p.Leu834Arg)
c.2063T>G (p.Leu688Arg)
c.2363T>G (p.Leu788Arg)
n.2814T>G
9g.104825799A>GCA374321290ABCA1c.2426T>C (p.Leu809Pro)
n.599T>C
c.2246T>C (p.Leu749Pro)
c.2501T>C (p.Leu834Pro)
c.2063T>C (p.Leu688Pro)
c.2363T>C (p.Leu788Pro)
n.2814T>C
9g.104825799A>TCA374321292ABCA1c.2426T>A (p.Leu809Gln)
n.599T>A
c.2246T>A (p.Leu749Gln)
c.2501T>A (p.Leu834Gln)
c.2063T>A (p.Leu688Gln)
c.2363T>A (p.Leu788Gln)
n.2814T>A
9g.104825800G>ACA466506925ABCA1c.2425C>T (p.Leu809=)
n.598C>T
c.2245C>T (p.Leu749=)
c.2500C>T (p.Leu834=)
c.2062C>T (p.Leu688=)
c.2362C>T (p.Leu788=)
n.2813C>T
9g.104825800G>CCA374321295ABCA1c.2425C>G (p.Leu809Val)
n.598C>G
c.2245C>G (p.Leu749Val)
c.2500C>G (p.Leu834Val)
c.2062C>G (p.Leu688Val)
c.2362C>G (p.Leu788Val)
n.2813C>G
 gnomAD v4
9g.104825800G>TCA374321297ABCA1c.2425C>A (p.Leu809Met)
n.598C>A
c.2245C>A (p.Leu749Met)
c.2500C>A (p.Leu834Met)
c.2062C>A (p.Leu688Met)
c.2362C>A (p.Leu788Met)
n.2813C>A
9g.104825801G>ACA466506926ABCA1c.2424C>T (p.Asn808=)
n.597C>T
c.2244C>T (p.Asn748=)
c.2499C>T (p.Asn833=)
c.2061C>T (p.Asn687=)
c.2361C>T (p.Asn787=)
n.2812C>T
 gnomAD v4
9g.104825801G>CCA197392943ABCA1c.2424C>G (p.Asn808Lys)
n.597C>G
c.2244C>G (p.Asn748Lys)
c.2499C>G (p.Asn833Lys)
c.2061C>G (p.Asn687Lys)
c.2361C>G (p.Asn787Lys)
n.2812C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825801G=CA1869915114ABCA1c.2424C= (p.Asn808=)
n.597C=
c.2244C= (p.Asn748=)
c.2499C= (p.Asn833=)
c.2061C= (p.Asn687=)
c.2361C= (p.Asn787=)
n.2812C=
9g.104825801G>TCA374321301ABCA1c.2424C>A (p.Asn808Lys)
n.597C>A
c.2244C>A (p.Asn748Lys)
c.2499C>A (p.Asn833Lys)
c.2061C>A (p.Asn687Lys)
c.2361C>A (p.Asn787Lys)
n.2812C>A
9g.104825802T>ACA374321303ABCA1c.2423A>T (p.Asn808Ile)
n.596A>T
c.2243A>T (p.Asn748Ile)
c.2498A>T (p.Asn833Ile)
c.2060A>T (p.Asn687Ile)
c.2360A>T (p.Asn787Ile)
n.2811A>T
9g.104825802T>CCA374321305ABCA1c.2423A>G (p.Asn808Ser)
n.596A>G
c.2243A>G (p.Asn748Ser)
c.2498A>G (p.Asn833Ser)
c.2060A>G (p.Asn687Ser)
c.2360A>G (p.Asn787Ser)
n.2811A>G
9g.104825802T>GCA374321307ABCA1c.2423A>C (p.Asn808Thr)
n.596A>C
c.2243A>C (p.Asn748Thr)
c.2498A>C (p.Asn833Thr)
c.2060A>C (p.Asn687Thr)
c.2360A>C (p.Asn787Thr)
n.2811A>C
9g.104825803T>ACA374321309ABCA1c.2422A>T (p.Asn808Tyr)
n.595A>T
c.2242A>T (p.Asn748Tyr)
c.2497A>T (p.Asn833Tyr)
c.2059A>T (p.Asn687Tyr)
c.2359A>T (p.Asn787Tyr)
n.2810A>T
9g.104825803T>CCA374321311ABCA1c.2422A>G (p.Asn808Asp)
n.595A>G
c.2242A>G (p.Asn748Asp)
c.2497A>G (p.Asn833Asp)
c.2059A>G (p.Asn687Asp)
c.2359A>G (p.Asn787Asp)
n.2810A>G
9g.104825803T>GCA374321313ABCA1c.2422A>C (p.Asn808His)
n.595A>C
c.2242A>C (p.Asn748His)
c.2497A>C (p.Asn833His)
c.2059A>C (p.Asn687His)
c.2359A>C (p.Asn787His)
n.2810A>C
9g.104825804G>ACA466506928ABCA1c.2421C>T (p.Asp807=)
n.594C>T
c.2241C>T (p.Asp747=)
c.2496C>T (p.Asp832=)
c.2058C>T (p.Asp686=)
c.2358C>T (p.Asp786=)
n.2809C>T
9g.104825804G>CCA374321315ABCA1c.2421C>G (p.Asp807Glu)
n.594C>G
c.2241C>G (p.Asp747Glu)
c.2496C>G (p.Asp832Glu)
c.2058C>G (p.Asp686Glu)
c.2358C>G (p.Asp786Glu)
n.2809C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104825804G=CA1869915119ABCA1c.2421C= (p.Asp807=)
n.594C=
c.2241C= (p.Asp747=)
c.2496C= (p.Asp832=)
c.2058C= (p.Asp686=)
c.2358C= (p.Asp786=)
n.2809C=
9g.104825804G>TCA374321317ABCA1c.2421C>A (p.Asp807Glu)
n.594C>A
c.2241C>A (p.Asp747Glu)
c.2496C>A (p.Asp832Glu)
c.2058C>A (p.Asp686Glu)
c.2358C>A (p.Asp786Glu)
n.2809C>A
9g.104825805T>ACA374321319ABCA1c.2420A>T (p.Asp807Val)
n.593A>T
c.2240A>T (p.Asp747Val)
c.2495A>T (p.Asp832Val)
c.2057A>T (p.Asp686Val)
c.2357A>T (p.Asp786Val)
n.2808A>T
9g.104825805T>CCA374321323ABCA1c.2420A>G (p.Asp807Gly)
n.593A>G
c.2240A>G (p.Asp747Gly)
c.2495A>G (p.Asp832Gly)
c.2057A>G (p.Asp686Gly)
c.2357A>G (p.Asp786Gly)
n.2808A>G
9g.104825805T>GCA374321321ABCA1c.2420A>C (p.Asp807Ala)
n.593A>C
c.2240A>C (p.Asp747Ala)
c.2495A>C (p.Asp832Ala)
c.2057A>C (p.Asp686Ala)
c.2357A>C (p.Asp786Ala)
n.2808A>C
9g.104825806C>ACA374321324ABCA1c.2419G>T (p.Asp807Tyr)
n.592G>T
c.2239G>T (p.Asp747Tyr)
c.2494G>T (p.Asp832Tyr)
c.2056G>T (p.Asp686Tyr)
c.2356G>T (p.Asp786Tyr)
n.2807G>T
9g.104825806C=CA1869915123ABCA1c.2419G= (p.Asp807=)
n.592G=
c.2239G= (p.Asp747=)
c.2494G= (p.Asp832=)
c.2056G= (p.Asp686=)
c.2356G= (p.Asp786=)
n.2807G=
9g.104825806C>GCA374321326ABCA1c.2419G>C (p.Asp807His)
n.592G>C
c.2239G>C (p.Asp747His)
c.2494G>C (p.Asp832His)
c.2056G>C (p.Asp686His)
c.2356G>C (p.Asp786His)
n.2807G>C
9g.104825806C>TCA5168735ABCA1c.2419G>A (p.Asp807Asn)
n.592G>A
c.2239G>A (p.Asp747Asn)
c.2494G>A (p.Asp832Asn)
c.2056G>A (p.Asp686Asn)
c.2356G>A (p.Asp786Asn)
n.2807G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825807C>ACA374321329ABCA1c.2418G>T (p.Trp806Cys)
n.591G>T
c.2238G>T (p.Trp746Cys)
c.2493G>T (p.Trp831Cys)
c.2055G>T (p.Trp685Cys)
c.2355G>T (p.Trp785Cys)
n.2806G>T
 gnomAD v4
9g.104825807C>GCA374321330ABCA1c.2418G>C (p.Trp806Cys)
n.591G>C
c.2238G>C (p.Trp746Cys)
c.2493G>C (p.Trp831Cys)
c.2055G>C (p.Trp685Cys)
c.2355G>C (p.Trp785Cys)
n.2806G>C
9g.104825807C>TCA374321332ABCA1c.2418G>A (p.Trp806Ter)
n.591G>A
c.2238G>A (p.Trp746Ter)
c.2493G>A (p.Trp831Ter)
c.2055G>A (p.Trp685Ter)
c.2355G>A (p.Trp785Ter)
n.2806G>A
9g.104825808C>ACA374321334ABCA1c.2417G>T (p.Trp806Leu)
n.590G>T
c.2237G>T (p.Trp746Leu)
c.2492G>T (p.Trp831Leu)
c.2054G>T (p.Trp685Leu)
c.2354G>T (p.Trp785Leu)
n.2805G>T
9g.104825808C>GCA374321336ABCA1c.2417G>C (p.Trp806Ser)
n.590G>C
c.2237G>C (p.Trp746Ser)
c.2492G>C (p.Trp831Ser)
c.2054G>C (p.Trp685Ser)
c.2354G>C (p.Trp785Ser)
n.2805G>C
9g.104825808C>TCA374321337ABCA1c.2417G>A (p.Trp806Ter)
n.590G>A
c.2237G>A (p.Trp746Ter)
c.2492G>A (p.Trp831Ter)
c.2054G>A (p.Trp685Ter)
c.2354G>A (p.Trp785Ter)
n.2805G>A
9g.104825809A>CCA374321339ABCA1c.2416T>G (p.Trp806Gly)
n.589T>G
c.2236T>G (p.Trp746Gly)
c.2491T>G (p.Trp831Gly)
c.2053T>G (p.Trp685Gly)
c.2353T>G (p.Trp785Gly)
n.2804T>G
 gnomAD v4
9g.104825809A>GCA374321341ABCA1c.2416T>C (p.Trp806Arg)
n.589T>C
c.2236T>C (p.Trp746Arg)
c.2491T>C (p.Trp831Arg)
c.2053T>C (p.Trp685Arg)
c.2353T>C (p.Trp785Arg)
n.2804T>C
9g.104825809A>TCA374321342ABCA1c.2416T>A (p.Trp806Arg)
n.589T>A
c.2236T>A (p.Trp746Arg)
c.2491T>A (p.Trp831Arg)
c.2053T>A (p.Trp685Arg)
c.2353T>A (p.Trp785Arg)
n.2804T>A
9g.104825810C>ACA374321346ABCA1c.2415G>T (p.Gln805His)
n.588G>T
c.2235G>T (p.Gln745His)
c.2490G>T (p.Gln830His)
c.2052G>T (p.Gln684His)
c.2352G>T (p.Gln784His)
n.2803G>T
 dbSNP gnomAD v3 gnomAD v4
9g.104825810C=CA1869915127ABCA1c.2415G= (p.Gln805=)
n.588G=
c.2235G= (p.Gln745=)
c.2490G= (p.Gln830=)
c.2052G= (p.Gln684=)
c.2352G= (p.Gln784=)
n.2803G=
9g.104825810C>GCA374321344ABCA1c.2415G>C (p.Gln805His)
n.588G>C
c.2235G>C (p.Gln745His)
c.2490G>C (p.Gln830His)
c.2052G>C (p.Gln684His)
c.2352G>C (p.Gln784His)
n.2803G>C
9g.104825810C>TCA466506929ABCA1c.2415G>A (p.Gln805=)
n.588G>A
c.2235G>A (p.Gln745=)
c.2490G>A (p.Gln830=)
c.2052G>A (p.Gln684=)
c.2352G>A (p.Gln784=)
n.2803G>A
 gnomAD v4
9g.104825811T>ACA374321348ABCA1c.2414A>T (p.Gln805Leu)
n.587A>T
c.2234A>T (p.Gln745Leu)
c.2489A>T (p.Gln830Leu)
c.2051A>T (p.Gln684Leu)
c.2351A>T (p.Gln784Leu)
n.2802A>T
9g.104825811T>CCA374321349ABCA1c.2414A>G (p.Gln805Arg)
n.587A>G
c.2234A>G (p.Gln745Arg)
c.2489A>G (p.Gln830Arg)
c.2051A>G (p.Gln684Arg)
c.2351A>G (p.Gln784Arg)
n.2802A>G
9g.104825811T>GCA5168736ABCA1c.2414A>C (p.Gln805Pro)
n.587A>C
c.2234A>C (p.Gln745Pro)
c.2489A>C (p.Gln830Pro)
c.2051A>C (p.Gln684Pro)
c.2351A>C (p.Gln784Pro)
n.2802A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825811T=CA1869915129ABCA1c.2414A= (p.Gln805=)
n.587A=
c.2234A= (p.Gln745=)
c.2489A= (p.Gln830=)
c.2051A= (p.Gln684=)
c.2351A= (p.Gln784=)
n.2802A=
9g.104825812G>ACA374321352ABCA1c.2413C>T (p.Gln805Ter)
n.586C>T
c.2233C>T (p.Gln745Ter)
c.2488C>T (p.Gln830Ter)
c.2050C>T (p.Gln684Ter)
c.2350C>T (p.Gln784Ter)
n.2801C>T
9g.104825812G>CCA374321354ABCA1c.2413C>G (p.Gln805Glu)
n.586C>G
c.2233C>G (p.Gln745Glu)
c.2488C>G (p.Gln830Glu)
c.2050C>G (p.Gln684Glu)
c.2350C>G (p.Gln784Glu)
n.2801C>G
9g.104825812G>TCA374321355ABCA1c.2413C>A (p.Gln805Lys)
n.586C>A
c.2233C>A (p.Gln745Lys)
c.2488C>A (p.Gln830Lys)
c.2050C>A (p.Gln684Lys)
c.2350C>A (p.Gln784Lys)
n.2801C>A
9g.104825813C>ACA466506930ABCA1c.2412G>T (p.Val804=)
n.585G>T
c.2232G>T (p.Val744=)
c.2487G>T (p.Val829=)
c.2049G>T (p.Val683=)
c.2349G>T (p.Val783=)
n.2800G>T
9g.104825813C=CA1869915133ABCA1c.2412G= (p.Val804=)
n.585G=
c.2232G= (p.Val744=)
c.2487G= (p.Val829=)
c.2049G= (p.Val683=)
c.2349G= (p.Val783=)
n.2800G=
9g.104825813C>GCA466506931ABCA1c.2412G>C (p.Val804=)
n.585G>C
c.2232G>C (p.Val744=)
c.2487G>C (p.Val829=)
c.2049G>C (p.Val683=)
c.2349G>C (p.Val783=)
n.2800G>C
9g.104825813C>TCA466506932ABCA1c.2412G>A (p.Val804=)
n.585G>A
c.2232G>A (p.Val744=)
c.2487G>A (p.Val829=)
c.2049G>A (p.Val683=)
c.2349G>A (p.Val783=)
n.2800G>A
 dbSNP
9g.104825814A>CCA374321356ABCA1c.2411T>G (p.Val804Gly)
n.584T>G
c.2231T>G (p.Val744Gly)
c.2486T>G (p.Val829Gly)
c.2048T>G (p.Val683Gly)
c.2348T>G (p.Val783Gly)
n.2799T>G
9g.104825814A>GCA374321357ABCA1c.2411T>C (p.Val804Ala)
n.584T>C
c.2231T>C (p.Val744Ala)
c.2486T>C (p.Val829Ala)
c.2048T>C (p.Val683Ala)
c.2348T>C (p.Val783Ala)
n.2799T>C
9g.104825814A>TCA374321358ABCA1c.2411T>A (p.Val804Glu)
n.584T>A
c.2231T>A (p.Val744Glu)
c.2486T>A (p.Val829Glu)
c.2048T>A (p.Val683Glu)
c.2348T>A (p.Val783Glu)
n.2799T>A
9g.104825815C>ACA374321359ABCA1c.2410G>T (p.Val804Leu)
n.583G>T
c.2230G>T (p.Val744Leu)
c.2485G>T (p.Val829Leu)
c.2047G>T (p.Val683Leu)
c.2347G>T (p.Val783Leu)
n.2798G>T
 gnomAD v4
9g.104825815C=CA1869915135ABCA1c.2410G= (p.Val804=)
n.583G=
c.2230G= (p.Val744=)
c.2485G= (p.Val829=)
c.2047G= (p.Val683=)
c.2347G= (p.Val783=)
n.2798G=
9g.104825815C>GCA374321360ABCA1c.2410G>C (p.Val804Leu)
n.583G>C
c.2230G>C (p.Val744Leu)
c.2485G>C (p.Val829Leu)
c.2047G>C (p.Val683Leu)
c.2347G>C (p.Val783Leu)
n.2798G>C
9g.104825815C>TCA5168737ABCA1c.2410G>A (p.Val804Met)
n.583G>A
c.2230G>A (p.Val744Met)
c.2485G>A (p.Val829Met)
c.2047G>A (p.Val683Met)
c.2347G>A (p.Val783Met)
n.2798G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825816T>ACA466506933ABCA1c.2409A>T (p.Gly803=)
n.582A>T
c.2229A>T (p.Gly743=)
c.2484A>T (p.Gly828=)
c.2046A>T (p.Gly682=)
c.2346A>T (p.Gly782=)
n.2797A>T
9g.104825816T>CCA466506934ABCA1c.2409A>G (p.Gly803=)
n.582A>G
c.2229A>G (p.Gly743=)
c.2484A>G (p.Gly828=)
c.2046A>G (p.Gly682=)
c.2346A>G (p.Gly782=)
n.2797A>G
9g.104825816T>GCA466506935ABCA1c.2409A>C (p.Gly803=)
n.582A>C
c.2229A>C (p.Gly743=)
c.2484A>C (p.Gly828=)
c.2046A>C (p.Gly682=)
c.2346A>C (p.Gly782=)
n.2797A>C
 ClinVar dbSNP gnomAD v4
9g.104825816T=CA1869915138ABCA1c.2409A= (p.Gly803=)
n.582A=
c.2229A= (p.Gly743=)
c.2484A= (p.Gly828=)
c.2046A= (p.Gly682=)
c.2346A= (p.Gly782=)
n.2797A=
9g.104825817C>ACA374321362ABCA1c.2408G>T (p.Gly803Val)
n.581G>T
c.2228G>T (p.Gly743Val)
c.2483G>T (p.Gly828Val)
c.2045G>T (p.Gly682Val)
c.2345G>T (p.Gly782Val)
n.2796G>T
9g.104825817C>GCA374321363ABCA1c.2408G>C (p.Gly803Ala)
n.581G>C
c.2228G>C (p.Gly743Ala)
c.2483G>C (p.Gly828Ala)
c.2045G>C (p.Gly682Ala)
c.2345G>C (p.Gly782Ala)
n.2796G>C
9g.104825817C>TCA374321361ABCA1c.2408G>A (p.Gly803Glu)
n.581G>A
c.2228G>A (p.Gly743Glu)
c.2483G>A (p.Gly828Glu)
c.2045G>A (p.Gly682Glu)
c.2345G>A (p.Gly782Glu)
n.2796G>A
9g.104825818C>ACA374321364ABCA1c.2407G>T (p.Gly803Ter)
n.580G>T
c.2227G>T (p.Gly743Ter)
c.2482G>T (p.Gly828Ter)
c.2044G>T (p.Gly682Ter)
c.2344G>T (p.Gly782Ter)
n.2795G>T
9g.104825818C>GCA374321365ABCA1c.2407G>C (p.Gly803Arg)
n.580G>C
c.2227G>C (p.Gly743Arg)
c.2482G>C (p.Gly828Arg)
c.2044G>C (p.Gly682Arg)
c.2344G>C (p.Gly782Arg)
n.2795G>C
9g.104825818C>TCA374321366ABCA1c.2407G>A (p.Gly803Arg)
n.580G>A
c.2227G>A (p.Gly743Arg)
c.2482G>A (p.Gly828Arg)
c.2044G>A (p.Gly682Arg)
c.2344G>A (p.Gly782Arg)
n.2795G>A
9g.104825819A>CCA374321367ABCA1c.2406T>G (p.Ile802Met)
n.579T>G
c.2226T>G (p.Ile742Met)
c.2481T>G (p.Ile827Met)
c.2043T>G (p.Ile681Met)
c.2343T>G (p.Ile781Met)
n.2794T>G
9g.104825819A>GCA466506937ABCA1c.2406T>C (p.Ile802=)
n.579T>C
c.2226T>C (p.Ile742=)
c.2481T>C (p.Ile827=)
c.2043T>C (p.Ile681=)
c.2343T>C (p.Ile781=)
n.2794T>C
9g.104825819A>TCA466506936ABCA1c.2406T>A (p.Ile802=)
n.579T>A
c.2226T>A (p.Ile742=)
c.2481T>A (p.Ile827=)
c.2043T>A (p.Ile681=)
c.2343T>A (p.Ile781=)
n.2794T>A
9g.104825820A=CA1869915139ABCA1c.2405T= (p.Ile802=)
n.578T=
c.2225T= (p.Ile742=)
c.2480T= (p.Ile827=)
c.2042T= (p.Ile681=)
c.2342T= (p.Ile781=)
n.2793T=
9g.104825820A>CCA374321368ABCA1c.2405T>G (p.Ile802Ser)
n.578T>G
c.2225T>G (p.Ile742Ser)
c.2480T>G (p.Ile827Ser)
c.2042T>G (p.Ile681Ser)
c.2342T>G (p.Ile781Ser)
n.2793T>G
9g.104825820A>GCA374321369ABCA1c.2405T>C (p.Ile802Thr)
n.578T>C
c.2225T>C (p.Ile742Thr)
c.2480T>C (p.Ile827Thr)
c.2042T>C (p.Ile681Thr)
c.2342T>C (p.Ile781Thr)
n.2793T>C
 dbSNP gnomAD v4
9g.104825820A>TCA374321370ABCA1c.2405T>A (p.Ile802Asn)
n.578T>A
c.2225T>A (p.Ile742Asn)
c.2480T>A (p.Ile827Asn)
c.2042T>A (p.Ile681Asn)
c.2342T>A (p.Ile781Asn)
n.2793T>A
9g.104825821T>ACA5168739ABCA1c.2404A>T (p.Ile802Phe)
n.577A>T
c.2224A>T (p.Ile742Phe)
c.2479A>T (p.Ile827Phe)
c.2041A>T (p.Ile681Phe)
c.2341A>T (p.Ile781Phe)
n.2792A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825821T>CCA5168738ABCA1c.2404A>G (p.Ile802Val)
n.577A>G
c.2224A>G (p.Ile742Val)
c.2479A>G (p.Ile827Val)
c.2041A>G (p.Ile681Val)
c.2341A>G (p.Ile781Val)
n.2792A>G
 dbSNP ExAC
9g.104825821T>GCA374321371ABCA1c.2404A>C (p.Ile802Leu)
n.577A>C
c.2224A>C (p.Ile742Leu)
c.2479A>C (p.Ile827Leu)
c.2041A>C (p.Ile681Leu)
c.2341A>C (p.Ile781Leu)
n.2792A>C
9g.104825821T=CA1869915148ABCA1c.2404A= (p.Ile802=)
n.577A=
c.2224A= (p.Ile742=)
c.2479A= (p.Ile827=)
c.2041A= (p.Ile681=)
c.2341A= (p.Ile781=)
n.2792A=
9g.104825822G>ACA466506940ABCA1c.2403C>T (p.Gly801=)
n.576C>T
c.2223C>T (p.Gly741=)
c.2478C>T (p.Gly826=)
c.2040C>T (p.Gly680=)
c.2340C>T (p.Gly780=)
n.2791C>T
9g.104825822G>CCA466506939ABCA1c.2403C>G (p.Gly801=)
n.576C>G
c.2223C>G (p.Gly741=)
c.2478C>G (p.Gly826=)
c.2040C>G (p.Gly680=)
c.2340C>G (p.Gly780=)
n.2791C>G
9g.104825822G>TCA466506938ABCA1c.2403C>A (p.Gly801=)
n.576C>A
c.2223C>A (p.Gly741=)
c.2478C>A (p.Gly826=)
c.2040C>A (p.Gly680=)
c.2340C>A (p.Gly780=)
n.2791C>A
9g.104825823C>ACA374321372ABCA1c.2402G>T (p.Gly801Val)
n.575G>T
c.2222G>T (p.Gly741Val)
c.2477G>T (p.Gly826Val)
c.2039G>T (p.Gly680Val)
c.2339G>T (p.Gly780Val)
n.2790G>T
9g.104825823C>GCA374321373ABCA1c.2402G>C (p.Gly801Ala)
n.575G>C
c.2222G>C (p.Gly741Ala)
c.2477G>C (p.Gly826Ala)
c.2039G>C (p.Gly680Ala)
c.2339G>C (p.Gly780Ala)
n.2790G>C
9g.104825823C>TCA374321374ABCA1c.2402G>A (p.Gly801Asp)
n.575G>A
c.2222G>A (p.Gly741Asp)
c.2477G>A (p.Gly826Asp)
c.2039G>A (p.Gly680Asp)
c.2339G>A (p.Gly780Asp)
n.2790G>A
 ClinVar dbSNP
9g.104825824C>ACA374321377ABCA1c.2401G>T (p.Gly801Cys)
n.574G>T
c.2221G>T (p.Gly741Cys)
c.2476G>T (p.Gly826Cys)
c.2038G>T (p.Gly680Cys)
c.2338G>T (p.Gly780Cys)
n.2789G>T
9g.104825824C>GCA374321376ABCA1c.2401G>C (p.Gly801Arg)
n.574G>C
c.2221G>C (p.Gly741Arg)
c.2476G>C (p.Gly826Arg)
c.2038G>C (p.Gly680Arg)
c.2338G>C (p.Gly780Arg)
n.2789G>C
9g.104825824C>TCA374321375ABCA1c.2401G>A (p.Gly801Ser)
n.574G>A
c.2221G>A (p.Gly741Ser)
c.2476G>A (p.Gly826Ser)
c.2038G>A (p.Gly680Ser)
c.2338G>A (p.Gly780Ser)
n.2789G>A
9g.104825825C>ACA374321378ABCA1c.2400G>T (p.Gln800His)
n.573G>T
c.2220G>T (p.Gln740His)
c.2475G>T (p.Gln825His)
c.2037G>T (p.Gln679His)
c.2337G>T (p.Gln779His)
n.2788G>T
9g.104825825C=CA1869915150ABCA1c.2400G= (p.Gln800=)
n.573G=
c.2220G= (p.Gln740=)
c.2475G= (p.Gln825=)
c.2037G= (p.Gln679=)
c.2337G= (p.Gln779=)
n.2788G=
9g.104825825C>GCA374321379ABCA1c.2400G>C (p.Gln800His)
n.573G>C
c.2220G>C (p.Gln740His)
c.2475G>C (p.Gln825His)
c.2037G>C (p.Gln679His)
c.2337G>C (p.Gln779His)
n.2788G>C
9g.104825825C>TCA5168740ABCA1c.2400G>A (p.Gln800=)
n.573G>A
c.2220G>A (p.Gln740=)
c.2475G>A (p.Gln825=)
c.2037G>A (p.Gln679=)
c.2337G>A (p.Gln779=)
n.2788G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825826T>ACA374321380ABCA1c.2399A>T (p.Gln800Leu)
n.572A>T
c.2219A>T (p.Gln740Leu)
c.2474A>T (p.Gln825Leu)
c.2036A>T (p.Gln679Leu)
c.2336A>T (p.Gln779Leu)
n.2787A>T
9g.104825826T>CCA374321381ABCA1c.2399A>G (p.Gln800Arg)
n.572A>G
c.2219A>G (p.Gln740Arg)
c.2474A>G (p.Gln825Arg)
c.2036A>G (p.Gln679Arg)
c.2336A>G (p.Gln779Arg)
n.2787A>G
9g.104825826T>GCA374321382ABCA1c.2399A>C (p.Gln800Pro)
n.572A>C
c.2219A>C (p.Gln740Pro)
c.2474A>C (p.Gln825Pro)
c.2036A>C (p.Gln679Pro)
c.2336A>C (p.Gln779Pro)
n.2787A>C
9g.104825827G>ACA374321383ABCA1c.2398C>T (p.Gln800Ter)
n.571C>T
c.2218C>T (p.Gln740Ter)
c.2473C>T (p.Gln825Ter)
c.2035C>T (p.Gln679Ter)
c.2335C>T (p.Gln779Ter)
n.2786C>T
 dbSNP gnomAD v3 gnomAD v4
9g.104825827G>CCA374321384ABCA1c.2398C>G (p.Gln800Glu)
n.571C>G
c.2218C>G (p.Gln740Glu)
c.2473C>G (p.Gln825Glu)
c.2035C>G (p.Gln679Glu)
c.2335C>G (p.Gln779Glu)
n.2786C>G
9g.104825827G=CA1869915153ABCA1c.2398C= (p.Gln800=)
n.571C=
c.2218C= (p.Gln740=)
c.2473C= (p.Gln825=)
c.2035C= (p.Gln679=)
c.2335C= (p.Gln779=)
n.2786C=
9g.104825827G>TCA374321385ABCA1c.2398C>A (p.Gln800Lys)
n.571C>A
c.2218C>A (p.Gln740Lys)
c.2473C>A (p.Gln825Lys)
c.2035C>A (p.Gln679Lys)
c.2335C>A (p.Gln779Lys)
n.2786C>A
9g.104825828C>ACA374321386ABCA1c.2397G>T (p.Glu799Asp)
n.570G>T
c.2217G>T (p.Glu739Asp)
c.2472G>T (p.Glu824Asp)
c.2034G>T (p.Glu678Asp)
c.2334G>T (p.Glu778Asp)
n.2785G>T
9g.104825828C>GCA374321387ABCA1c.2397G>C (p.Glu799Asp)
n.570G>C
c.2217G>C (p.Glu739Asp)
c.2472G>C (p.Glu824Asp)
c.2034G>C (p.Glu678Asp)
c.2334G>C (p.Glu778Asp)
n.2785G>C
9g.104825828C>TCA466506941ABCA1c.2397G>A (p.Glu799=)
n.570G>A
c.2217G>A (p.Glu739=)
c.2472G>A (p.Glu824=)
c.2034G>A (p.Glu678=)
c.2334G>A (p.Glu778=)
n.2785G>A
9g.104825829T>ACA374321388ABCA1c.2396A>T (p.Glu799Val)
n.569A>T
c.2216A>T (p.Glu739Val)
c.2471A>T (p.Glu824Val)
c.2033A>T (p.Glu678Val)
c.2333A>T (p.Glu778Val)
n.2784A>T
9g.104825829T>CCA374321389ABCA1c.2396A>G (p.Glu799Gly)
n.569A>G
c.2216A>G (p.Glu739Gly)
c.2471A>G (p.Glu824Gly)
c.2033A>G (p.Glu678Gly)
c.2333A>G (p.Glu778Gly)
n.2784A>G
9g.104825829T>GCA374321390ABCA1c.2396A>C (p.Glu799Ala)
n.569A>C
c.2216A>C (p.Glu739Ala)
c.2471A>C (p.Glu824Ala)
c.2033A>C (p.Glu678Ala)
c.2333A>C (p.Glu778Ala)
n.2784A>C
9g.104825830C>ACA374321392ABCA1c.2395G>T (p.Glu799Ter)
n.568G>T
c.2215G>T (p.Glu739Ter)
c.2470G>T (p.Glu824Ter)
c.2032G>T (p.Glu678Ter)
c.2332G>T (p.Glu778Ter)
n.2783G>T
9g.104825830C>GCA374321393ABCA1c.2395G>C (p.Glu799Gln)
n.568G>C
c.2215G>C (p.Glu739Gln)
c.2470G>C (p.Glu824Gln)
c.2032G>C (p.Glu678Gln)
c.2332G>C (p.Glu778Gln)
n.2783G>C
9g.104825830C>TCA374321391ABCA1c.2395G>A (p.Glu799Lys)
n.568G>A
c.2215G>A (p.Glu739Lys)
c.2470G>A (p.Glu824Lys)
c.2032G>A (p.Glu678Lys)
c.2332G>A (p.Glu778Lys)
n.2783G>A
 gnomAD v4
9g.104825831C>ACA374321394ABCA1c.2394G>T (p.Glu798Asp)
n.567G>T
c.2214G>T (p.Glu738Asp)
c.2469G>T (p.Glu823Asp)
c.2031G>T (p.Glu677Asp)
c.2331G>T (p.Glu777Asp)
n.2782G>T
9g.104825831C>GCA374321395ABCA1c.2394G>C (p.Glu798Asp)
n.567G>C
c.2214G>C (p.Glu738Asp)
c.2469G>C (p.Glu823Asp)
c.2031G>C (p.Glu677Asp)
c.2331G>C (p.Glu777Asp)
n.2782G>C
9g.104825831C>TCA466506942ABCA1c.2394G>A (p.Glu798=)
n.567G>A
c.2214G>A (p.Glu738=)
c.2469G>A (p.Glu823=)
c.2031G>A (p.Glu677=)
c.2331G>A (p.Glu777=)
n.2782G>A
9g.104825832T>ACA374321396ABCA1c.2393A>T (p.Glu798Val)
n.566A>T
c.2213A>T (p.Glu738Val)
c.2468A>T (p.Glu823Val)
c.2030A>T (p.Glu677Val)
c.2330A>T (p.Glu777Val)
n.2781A>T
9g.104825832T>CCA374321397ABCA1c.2393A>G (p.Glu798Gly)
n.566A>G
c.2213A>G (p.Glu738Gly)
c.2468A>G (p.Glu823Gly)
c.2030A>G (p.Glu677Gly)
c.2330A>G (p.Glu777Gly)
n.2781A>G
 gnomAD v4
9g.104825832T>GCA374321398ABCA1c.2393A>C (p.Glu798Ala)
n.566A>C
c.2213A>C (p.Glu738Ala)
c.2468A>C (p.Glu823Ala)
c.2030A>C (p.Glu677Ala)
c.2330A>C (p.Glu777Ala)
n.2781A>C
9g.104825833C>ACA374321399ABCA1c.2392G>T (p.Glu798Ter)
n.565G>T
c.2212G>T (p.Glu738Ter)
c.2467G>T (p.Glu823Ter)
c.2029G>T (p.Glu677Ter)
c.2329G>T (p.Glu777Ter)
n.2780G>T
9g.104825833C>GCA374321400ABCA1c.2392G>C (p.Glu798Gln)
n.565G>C
c.2212G>C (p.Glu738Gln)
c.2467G>C (p.Glu823Gln)
c.2029G>C (p.Glu677Gln)
c.2329G>C (p.Glu777Gln)
n.2780G>C
9g.104825833C>TCA374321401ABCA1c.2392G>A (p.Glu798Lys)
n.565G>A
c.2212G>A (p.Glu738Lys)
c.2467G>A (p.Glu823Lys)
c.2029G>A (p.Glu677Lys)
c.2329G>A (p.Glu777Lys)
n.2780G>A
9g.104825833_104825834delinsCACA1869915158ABCA1c.2391_2392delinsTG (p.Phe797=)
n.564_565delinsTG
c.2211_2212delinsTG (p.Phe737=)
c.2466_2467delinsTG (p.Phe822=)
c.2028_2029delinsTG (p.Phe676=)
c.2328_2329delinsTG (p.Phe776=)
n.2779_2780delinsTG
9g.104825834A>CCA374321402ABCA1c.2391T>G (p.Phe797Leu)
n.564T>G
c.2211T>G (p.Phe737Leu)
c.2466T>G (p.Phe822Leu)
c.2028T>G (p.Phe676Leu)
c.2328T>G (p.Phe776Leu)
n.2779T>G
9g.104825834A>GCA466506943ABCA1c.2391T>C (p.Phe797=)
n.564T>C
c.2211T>C (p.Phe737=)
c.2466T>C (p.Phe822=)
c.2028T>C (p.Phe676=)
c.2328T>C (p.Phe776=)
n.2779T>C
9g.104825834A>TCA374321403ABCA1c.2391T>A (p.Phe797Leu)
n.564T>A
c.2211T>A (p.Phe737Leu)
c.2466T>A (p.Phe822Leu)
c.2028T>A (p.Phe676Leu)
c.2328T>A (p.Phe776Leu)
n.2779T>A
9g.104825838dupCA858046870ABCA1c.2391dup (p.Glu798Ter)
n.564dup
c.2211dup (p.Glu738Ter)
c.2466dup (p.Glu823Ter)
c.2028dup (p.Glu677Ter)
c.2328dup (p.Glu777Ter)
n.2779dup
 dbSNP gnomAD v3 gnomAD v4
9g.104825838delCA1869915163ABCA1c.2391del (p.Phe797LeufsTer?)
n.564del
c.2211del (p.Phe737LeufsTer?)
c.2466del (p.Phe822LeufsTer?)
c.2028del (p.Phe676LeufsTer?)
c.2328del (p.Phe776LeufsTer?)
n.2779del
 dbSNP
9g.104825835A>CCA374321404ABCA1c.2390T>G (p.Phe797Cys)
n.563T>G
c.2210T>G (p.Phe737Cys)
c.2465T>G (p.Phe822Cys)
c.2027T>G (p.Phe676Cys)
c.2327T>G (p.Phe776Cys)
n.2778T>G
9g.104825835A>GCA374321405ABCA1c.2390T>C (p.Phe797Ser)
n.563T>C
c.2210T>C (p.Phe737Ser)
c.2465T>C (p.Phe822Ser)
c.2027T>C (p.Phe676Ser)
c.2327T>C (p.Phe776Ser)
n.2778T>C
9g.104825835A>TCA374321406ABCA1c.2390T>A (p.Phe797Tyr)
n.563T>A
c.2210T>A (p.Phe737Tyr)
c.2465T>A (p.Phe822Tyr)
c.2027T>A (p.Phe676Tyr)
c.2327T>A (p.Phe776Tyr)
n.2778T>A
9g.104825836A>CCA374321409ABCA1c.2389T>G (p.Phe797Val)
n.562T>G
c.2209T>G (p.Phe737Val)
c.2464T>G (p.Phe822Val)
c.2026T>G (p.Phe676Val)
c.2326T>G (p.Phe776Val)
n.2777T>G
9g.104825836A>GCA374321407ABCA1c.2389T>C (p.Phe797Leu)
n.562T>C
c.2209T>C (p.Phe737Leu)
c.2464T>C (p.Phe822Leu)
c.2026T>C (p.Phe676Leu)
c.2326T>C (p.Phe776Leu)
n.2777T>C
9g.104825836A>TCA374321408ABCA1c.2389T>A (p.Phe797Ile)
n.562T>A
c.2209T>A (p.Phe737Ile)
c.2464T>A (p.Phe822Ile)
c.2026T>A (p.Phe676Ile)
c.2326T>A (p.Phe776Ile)
n.2777T>A
 COSMIC
9g.104825837A>CCA466506944ABCA1c.2388T>G (p.Leu796=)
n.561T>G
c.2208T>G (p.Leu736=)
c.2463T>G (p.Leu821=)
c.2025T>G (p.Leu675=)
c.2325T>G (p.Leu775=)
n.2776T>G
9g.104825837A>GCA466506945ABCA1c.2388T>C (p.Leu796=)
n.561T>C
c.2208T>C (p.Leu736=)
c.2463T>C (p.Leu821=)
c.2025T>C (p.Leu675=)
c.2325T>C (p.Leu775=)
n.2776T>C
9g.104825837A>TCA466506946ABCA1c.2388T>A (p.Leu796=)
n.561T>A
c.2208T>A (p.Leu736=)
c.2463T>A (p.Leu821=)
c.2025T>A (p.Leu675=)
c.2325T>A (p.Leu775=)
n.2776T>A
 dbSNP gnomAD v3 gnomAD v4
9g.104825838A>CCA374321410ABCA1c.2387T>G (p.Leu796Arg)
n.560T>G
c.2207T>G (p.Leu736Arg)
c.2462T>G (p.Leu821Arg)
c.2024T>G (p.Leu675Arg)
c.2324T>G (p.Leu775Arg)
n.2775T>G
9g.104825838A>GCA374321411ABCA1c.2387T>C (p.Leu796Pro)
n.560T>C
c.2207T>C (p.Leu736Pro)
c.2462T>C (p.Leu821Pro)
c.2024T>C (p.Leu675Pro)
c.2324T>C (p.Leu775Pro)
n.2775T>C
9g.104825838A>TCA374321412ABCA1c.2387T>A (p.Leu796His)
n.560T>A
c.2207T>A (p.Leu736His)
c.2462T>A (p.Leu821His)
c.2024T>A (p.Leu675His)
c.2324T>A (p.Leu775His)
n.2775T>A
9g.104825839G>ACA374321413ABCA1c.2386C>T (p.Leu796Phe)
n.559C>T
c.2206C>T (p.Leu736Phe)
c.2461C>T (p.Leu821Phe)
c.2023C>T (p.Leu675Phe)
c.2323C>T (p.Leu775Phe)
n.2774C>T
9g.104825839G>CCA374321414ABCA1c.2386C>G (p.Leu796Val)
n.559C>G
c.2206C>G (p.Leu736Val)
c.2461C>G (p.Leu821Val)
c.2023C>G (p.Leu675Val)
c.2323C>G (p.Leu775Val)
n.2774C>G
9g.104825839G>TCA374321415ABCA1c.2386C>A (p.Leu796Ile)
n.559C>A
c.2206C>A (p.Leu736Ile)
c.2461C>A (p.Leu821Ile)
c.2023C>A (p.Leu675Ile)
c.2323C>A (p.Leu775Ile)
n.2774C>A
9g.104825840G>ACA466506947ABCA1c.2385C>T (p.Ala795=)
n.558C>T
c.2205C>T (p.Ala735=)
c.2460C>T (p.Ala820=)
c.2022C>T (p.Ala674=)
c.2322C>T (p.Ala774=)
n.2773C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104825840G>CCA466506948ABCA1c.2385C>G (p.Ala795=)
n.558C>G
c.2205C>G (p.Ala735=)
c.2460C>G (p.Ala820=)
c.2022C>G (p.Ala674=)
c.2322C>G (p.Ala774=)
n.2773C>G
9g.104825840G=CA1869915167ABCA1c.2385C= (p.Ala795=)
n.558C=
c.2205C= (p.Ala735=)
c.2460C= (p.Ala820=)
c.2022C= (p.Ala674=)
c.2322C= (p.Ala774=)
n.2773C=
9g.104825840G>TCA466506949ABCA1c.2385C>A (p.Ala795=)
n.558C>A
c.2205C>A (p.Ala735=)
c.2460C>A (p.Ala820=)
c.2022C>A (p.Ala674=)
c.2322C>A (p.Ala774=)
n.2773C>A
9g.104825841G>ACA374321416ABCA1c.2384C>T (p.Ala795Val)
n.557C>T
c.2204C>T (p.Ala735Val)
c.2459C>T (p.Ala820Val)
c.2021C>T (p.Ala674Val)
c.2321C>T (p.Ala774Val)
n.2772C>T
 gnomAD v4
9g.104825841G>CCA374321417ABCA1c.2384C>G (p.Ala795Gly)
n.557C>G
c.2204C>G (p.Ala735Gly)
c.2459C>G (p.Ala820Gly)
c.2021C>G (p.Ala674Gly)
c.2321C>G (p.Ala774Gly)
n.2772C>G
9g.104825841G>TCA374321418ABCA1c.2384C>A (p.Ala795Asp)
n.557C>A
c.2204C>A (p.Ala735Asp)
c.2459C>A (p.Ala820Asp)
c.2021C>A (p.Ala674Asp)
c.2321C>A (p.Ala774Asp)
n.2772C>A
9g.104825842C>ACA197392963ABCA1c.2383G>T (p.Ala795Ser)
n.556G>T
c.2203G>T (p.Ala735Ser)
c.2458G>T (p.Ala820Ser)
c.2020G>T (p.Ala674Ser)
c.2320G>T (p.Ala774Ser)
n.2771G>T
 dbSNP
9g.104825842C=CA1869915169ABCA1c.2383G= (p.Ala795=)
n.556G=
c.2203G= (p.Ala735=)
c.2458G= (p.Ala820=)
c.2020G= (p.Ala674=)
c.2320G= (p.Ala774=)
n.2771G=
9g.104825842C>GCA374321419ABCA1c.2383G>C (p.Ala795Pro)
n.556G>C
c.2203G>C (p.Ala735Pro)
c.2458G>C (p.Ala820Pro)
c.2020G>C (p.Ala674Pro)
c.2320G>C (p.Ala774Pro)
n.2771G>C
9g.104825842C>TCA374321420ABCA1c.2383G>A (p.Ala795Thr)
n.556G>A
c.2203G>A (p.Ala735Thr)
c.2458G>A (p.Ala820Thr)
c.2020G>A (p.Ala674Thr)
c.2320G>A (p.Ala774Thr)
n.2771G>A
9g.104825843A=CA1869915172ABCA1c.2382T= (p.Phe794=)
n.555T=
c.2202T= (p.Phe734=)
c.2457T= (p.Phe819=)
c.2019T= (p.Phe673=)
c.2319T= (p.Phe773=)
n.2770T=
9g.104825843A>CCA374321422ABCA1c.2382T>G (p.Phe794Leu)
n.555T>G
c.2202T>G (p.Phe734Leu)
c.2457T>G (p.Phe819Leu)
c.2019T>G (p.Phe673Leu)
c.2319T>G (p.Phe773Leu)
n.2770T>G
9g.104825843A>GCA5168741ABCA1c.2382T>C (p.Phe794=)
n.555T>C
c.2202T>C (p.Phe734=)
c.2457T>C (p.Phe819=)
c.2019T>C (p.Phe673=)
c.2319T>C (p.Phe773=)
n.2770T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825843A>TCA374321421ABCA1c.2382T>A (p.Phe794Leu)
n.555T>A
c.2202T>A (p.Phe734Leu)
c.2457T>A (p.Phe819Leu)
c.2019T>A (p.Phe673Leu)
c.2319T>A (p.Phe773Leu)
n.2770T>A
9g.104825844A>CCA374321423ABCA1c.2381T>G (p.Phe794Cys)
n.554T>G
c.2201T>G (p.Phe734Cys)
c.2456T>G (p.Phe819Cys)
c.2018T>G (p.Phe673Cys)
c.2318T>G (p.Phe773Cys)
n.2769T>G
9g.104825844A>GCA374321424ABCA1c.2381T>C (p.Phe794Ser)
n.554T>C
c.2201T>C (p.Phe734Ser)
c.2456T>C (p.Phe819Ser)
c.2018T>C (p.Phe673Ser)
c.2318T>C (p.Phe773Ser)
n.2769T>C
9g.104825844A>TCA374321425ABCA1c.2381T>A (p.Phe794Tyr)
n.554T>A
c.2201T>A (p.Phe734Tyr)
c.2456T>A (p.Phe819Tyr)
c.2018T>A (p.Phe673Tyr)
c.2318T>A (p.Phe773Tyr)
n.2769T>A
9g.104825845A>CCA374321426ABCA1c.2380T>G (p.Phe794Val)
n.553T>G
c.2200T>G (p.Phe734Val)
c.2455T>G (p.Phe819Val)
c.2017T>G (p.Phe673Val)
c.2317T>G (p.Phe773Val)
n.2768T>G
9g.104825845A>GCA374321427ABCA1c.2380T>C (p.Phe794Leu)
n.553T>C
c.2200T>C (p.Phe734Leu)
c.2455T>C (p.Phe819Leu)
c.2017T>C (p.Phe673Leu)
c.2317T>C (p.Phe773Leu)
n.2768T>C
9g.104825845A>TCA374321428ABCA1c.2380T>A (p.Phe794Ile)
n.553T>A
c.2200T>A (p.Phe734Ile)
c.2455T>A (p.Phe819Ile)
c.2017T>A (p.Phe673Ile)
c.2317T>A (p.Phe773Ile)
n.2768T>A
9g.104825846G>ACA466506950ABCA1c.2379C>T (p.Tyr793=)
n.552C>T
c.2199C>T (p.Tyr733=)
c.2454C>T (p.Tyr818=)
c.2016C>T (p.Tyr672=)
c.2316C>T (p.Tyr772=)
n.2767C>T
 gnomAD v4
9g.104825846G>CCA374321429ABCA1c.2379C>G (p.Tyr793Ter)
n.552C>G
c.2199C>G (p.Tyr733Ter)
c.2454C>G (p.Tyr818Ter)
c.2016C>G (p.Tyr672Ter)
c.2316C>G (p.Tyr772Ter)
n.2767C>G
9g.104825846G>TCA374321430ABCA1c.2379C>A (p.Tyr793Ter)
n.552C>A
c.2199C>A (p.Tyr733Ter)
c.2454C>A (p.Tyr818Ter)
c.2016C>A (p.Tyr672Ter)
c.2316C>A (p.Tyr772Ter)
n.2767C>A
9g.104825847T>ACA374321431ABCA1c.2378A>T (p.Tyr793Phe)
n.551A>T
c.2198A>T (p.Tyr733Phe)
c.2453A>T (p.Tyr818Phe)
c.2015A>T (p.Tyr672Phe)
c.2315A>T (p.Tyr772Phe)
n.2766A>T
9g.104825847T>CCA374321432ABCA1c.2378A>G (p.Tyr793Cys)
n.551A>G
c.2198A>G (p.Tyr733Cys)
c.2453A>G (p.Tyr818Cys)
c.2015A>G (p.Tyr672Cys)
c.2315A>G (p.Tyr772Cys)
n.2766A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825847T>GCA374321433ABCA1c.2378A>C (p.Tyr793Ser)
n.551A>C
c.2198A>C (p.Tyr733Ser)
c.2453A>C (p.Tyr818Ser)
c.2015A>C (p.Tyr672Ser)
c.2315A>C (p.Tyr772Ser)
n.2766A>C
 dbSNP
9g.104825847T=CA1869915176ABCA1c.2378A= (p.Tyr793=)
n.551A=
c.2198A= (p.Tyr733=)
c.2453A= (p.Tyr818=)
c.2015A= (p.Tyr672=)
c.2315A= (p.Tyr772=)
n.2766A=
9g.104825848A=CA1869915179ABCA1c.2377T= (p.Tyr793=)
n.550T=
c.2197T= (p.Tyr733=)
c.2452T= (p.Tyr818=)
c.2014T= (p.Tyr672=)
c.2314T= (p.Tyr772=)
n.2765T=
9g.104825848A>CCA374321434ABCA1c.2377T>G (p.Tyr793Asp)
n.550T>G
c.2197T>G (p.Tyr733Asp)
c.2452T>G (p.Tyr818Asp)
c.2014T>G (p.Tyr672Asp)
c.2314T>G (p.Tyr772Asp)
n.2765T>G
9g.104825848A>GCA374321435ABCA1c.2377T>C (p.Tyr793His)
n.550T>C
c.2197T>C (p.Tyr733His)
c.2452T>C (p.Tyr818His)
c.2014T>C (p.Tyr672His)
c.2314T>C (p.Tyr772His)
n.2765T>C
 dbSNP
9g.104825848A>TCA374321436ABCA1c.2377T>A (p.Tyr793Asn)
n.550T>A
c.2197T>A (p.Tyr733Asn)
c.2452T>A (p.Tyr818Asn)
c.2014T>A (p.Tyr672Asn)
c.2314T>A (p.Tyr772Asn)
n.2765T>A
9g.104825849C>ACA374321438ABCA1c.2376G>T (p.Glu792Asp)
n.549G>T
c.2196G>T (p.Glu732Asp)
c.2451G>T (p.Glu817Asp)
c.2013G>T (p.Glu671Asp)
c.2313G>T (p.Glu771Asp)
n.2764G>T
9g.104825849C>GCA374321437ABCA1c.2376G>C (p.Glu792Asp)
n.549G>C
c.2196G>C (p.Glu732Asp)
c.2451G>C (p.Glu817Asp)
c.2013G>C (p.Glu671Asp)
c.2313G>C (p.Glu771Asp)
n.2764G>C
9g.104825849C>TCA466506951ABCA1c.2376G>A (p.Glu792=)
n.549G>A
c.2196G>A (p.Glu732=)
c.2451G>A (p.Glu817=)
c.2013G>A (p.Glu671=)
c.2313G>A (p.Glu771=)
n.2764G>A
9g.104825850T>ACA374321439ABCA1c.2375A>T (p.Glu792Val)
n.548A>T
c.2195A>T (p.Glu732Val)
c.2450A>T (p.Glu817Val)
c.2012A>T (p.Glu671Val)
c.2312A>T (p.Glu771Val)
n.2763A>T
 COSMIC
9g.104825850T>CCA5168742ABCA1c.2375A>G (p.Glu792Gly)
n.548A>G
c.2195A>G (p.Glu732Gly)
c.2450A>G (p.Glu817Gly)
c.2012A>G (p.Glu671Gly)
c.2312A>G (p.Glu771Gly)
n.2763A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825850T>GCA374321440ABCA1c.2375A>C (p.Glu792Ala)
n.548A>C
c.2195A>C (p.Glu732Ala)
c.2450A>C (p.Glu817Ala)
c.2012A>C (p.Glu671Ala)
c.2312A>C (p.Glu771Ala)
n.2763A>C
9g.104825850T=CA1869915183ABCA1c.2375A= (p.Glu792=)
n.548A=
c.2195A= (p.Glu732=)
c.2450A= (p.Glu817=)
c.2012A= (p.Glu671=)
c.2312A= (p.Glu771=)
n.2763A=
9g.104825851C>ACA374321441ABCA1c.2374G>T (p.Glu792Ter)
n.547G>T
c.2194G>T (p.Glu732Ter)
c.2449G>T (p.Glu817Ter)
c.2011G>T (p.Glu671Ter)
c.2311G>T (p.Glu771Ter)
n.2762G>T
9g.104825851C>GCA374321442ABCA1c.2374G>C (p.Glu792Gln)
n.547G>C
c.2194G>C (p.Glu732Gln)
c.2449G>C (p.Glu817Gln)
c.2011G>C (p.Glu671Gln)
c.2311G>C (p.Glu771Gln)
n.2762G>C
9g.104825851C>TCA374321443ABCA1c.2374G>A (p.Glu792Lys)
n.547G>A
c.2194G>A (p.Glu732Lys)
c.2449G>A (p.Glu817Lys)
c.2011G>A (p.Glu671Lys)
c.2311G>A (p.Glu771Lys)
n.2762G>A
9g.104825852A>CCA374321445ABCA1c.2373T>G (p.Cys791Trp)
n.546T>G
c.2193T>G (p.Cys731Trp)
c.2448T>G (p.Cys816Trp)
c.2010T>G (p.Cys670Trp)
c.2310T>G (p.Cys770Trp)
n.2761T>G
9g.104825852A>GCA466506952ABCA1c.2373T>C (p.Cys791=)
n.546T>C
c.2193T>C (p.Cys731=)
c.2448T>C (p.Cys816=)
c.2010T>C (p.Cys670=)
c.2310T>C (p.Cys770=)
n.2761T>C
9g.104825852A>TCA374321444ABCA1c.2373T>A (p.Cys791Ter)
n.546T>A
c.2193T>A (p.Cys731Ter)
c.2448T>A (p.Cys816Ter)
c.2010T>A (p.Cys670Ter)
c.2310T>A (p.Cys770Ter)
n.2761T>A
9g.104825853C>ACA374321446ABCA1c.2372G>T (p.Cys791Phe)
n.545G>T
c.2192G>T (p.Cys731Phe)
c.2447G>T (p.Cys816Phe)
c.2009G>T (p.Cys670Phe)
c.2309G>T (p.Cys770Phe)
n.2760G>T
9g.104825853C=CA1869915187ABCA1c.2372G= (p.Cys791=)
n.545G=
c.2192G= (p.Cys731=)
c.2447G= (p.Cys816=)
c.2009G= (p.Cys670=)
c.2309G= (p.Cys770=)
n.2760G=
9g.104825853C>GCA374321447ABCA1c.2372G>C (p.Cys791Ser)
n.545G>C
c.2192G>C (p.Cys731Ser)
c.2447G>C (p.Cys816Ser)
c.2009G>C (p.Cys670Ser)
c.2309G>C (p.Cys770Ser)
n.2760G>C
 dbSNP gnomAD v2 gnomAD v4
9g.104825853C>TCA374321448ABCA1c.2372G>A (p.Cys791Tyr)
n.545G>A
c.2192G>A (p.Cys731Tyr)
c.2447G>A (p.Cys816Tyr)
c.2009G>A (p.Cys670Tyr)
c.2309G>A (p.Cys770Tyr)
n.2760G>A
 dbSNP
9g.104825854A>CCA374321449ABCA1c.2371T>G (p.Cys791Gly)
n.544T>G
c.2191T>G (p.Cys731Gly)
c.2446T>G (p.Cys816Gly)
c.2008T>G (p.Cys670Gly)
c.2308T>G (p.Cys770Gly)
n.2759T>G
9g.104825854A>GCA374321450ABCA1c.2371T>C (p.Cys791Arg)
n.544T>C
c.2191T>C (p.Cys731Arg)
c.2446T>C (p.Cys816Arg)
c.2008T>C (p.Cys670Arg)
c.2308T>C (p.Cys770Arg)
n.2759T>C
9g.104825854A>TCA374321451ABCA1c.2371T>A (p.Cys791Ser)
n.544T>A
c.2191T>A (p.Cys731Ser)
c.2446T>A (p.Cys816Ser)
c.2008T>A (p.Cys670Ser)
c.2308T>A (p.Cys770Ser)
n.2759T>A
9g.104825855G>ACA466506955ABCA1c.2370C>T (p.Gly790=)
n.543C>T
c.2190C>T (p.Gly730=)
c.2445C>T (p.Gly815=)
c.2007C>T (p.Gly669=)
c.2307C>T (p.Gly769=)
n.2758C>T
9g.104825855G>CCA466506954ABCA1c.2370C>G (p.Gly790=)
n.543C>G
c.2190C>G (p.Gly730=)
c.2445C>G (p.Gly815=)
c.2007C>G (p.Gly669=)
c.2307C>G (p.Gly769=)
n.2758C>G
9g.104825855G>TCA466506953ABCA1c.2370C>A (p.Gly790=)
n.543C>A
c.2190C>A (p.Gly730=)
c.2445C>A (p.Gly815=)
c.2007C>A (p.Gly669=)
c.2307C>A (p.Gly769=)
n.2758C>A
9g.104825856C>ACA374321454ABCA1c.2369G>T (p.Gly790Val)
n.542G>T
c.2189G>T (p.Gly730Val)
c.2444G>T (p.Gly815Val)
c.2006G>T (p.Gly669Val)
c.2306G>T (p.Gly769Val)
n.2757G>T
9g.104825856C>GCA374321452ABCA1c.2369G>C (p.Gly790Ala)
n.542G>C
c.2189G>C (p.Gly730Ala)
c.2444G>C (p.Gly815Ala)
c.2006G>C (p.Gly669Ala)
c.2306G>C (p.Gly769Ala)
n.2757G>C
9g.104825856C>TCA374321453ABCA1c.2369G>A (p.Gly790Asp)
n.542G>A
c.2189G>A (p.Gly730Asp)
c.2444G>A (p.Gly815Asp)
c.2006G>A (p.Gly669Asp)
c.2306G>A (p.Gly769Asp)
n.2757G>A
9g.104825857C>ACA374321455ABCA1c.2368G>T (p.Gly790Cys)
n.541G>T
c.2188G>T (p.Gly730Cys)
c.2443G>T (p.Gly815Cys)
c.2005G>T (p.Gly669Cys)
c.2305G>T (p.Gly769Cys)
n.2756G>T
9g.104825857C>GCA374321456ABCA1c.2368G>C (p.Gly790Arg)
n.541G>C
c.2188G>C (p.Gly730Arg)
c.2443G>C (p.Gly815Arg)
c.2005G>C (p.Gly669Arg)
c.2305G>C (p.Gly769Arg)
n.2756G>C
9g.104825857C>TCA374321457ABCA1c.2368G>A (p.Gly790Ser)
n.541G>A
c.2188G>A (p.Gly730Ser)
c.2443G>A (p.Gly815Ser)
c.2005G>A (p.Gly669Ser)
c.2305G>A (p.Gly769Ser)
n.2756G>A
 gnomAD v4
9g.104825858A>CCA374321458ABCA1c.2367T>G (p.Phe789Leu)
n.540T>G
c.2187T>G (p.Phe729Leu)
c.2442T>G (p.Phe814Leu)
c.2004T>G (p.Phe668Leu)
c.2304T>G (p.Phe768Leu)
n.2755T>G
9g.104825858A>GCA466506956ABCA1c.2367T>C (p.Phe789=)
n.540T>C
c.2187T>C (p.Phe729=)
c.2442T>C (p.Phe814=)
c.2004T>C (p.Phe668=)
c.2304T>C (p.Phe768=)
n.2755T>C
9g.104825858A>TCA374321459ABCA1c.2367T>A (p.Phe789Leu)
n.540T>A
c.2187T>A (p.Phe729Leu)
c.2442T>A (p.Phe814Leu)
c.2004T>A (p.Phe668Leu)
c.2304T>A (p.Phe768Leu)
n.2755T>A
9g.104825859A>CCA374321460ABCA1c.2366T>G (p.Phe789Cys)
n.539T>G
c.2186T>G (p.Phe729Cys)
c.2441T>G (p.Phe814Cys)
c.2003T>G (p.Phe668Cys)
c.2303T>G (p.Phe768Cys)
n.2754T>G
9g.104825859A>GCA374321461ABCA1c.2366T>C (p.Phe789Ser)
n.539T>C
c.2186T>C (p.Phe729Ser)
c.2441T>C (p.Phe814Ser)
c.2003T>C (p.Phe668Ser)
c.2303T>C (p.Phe768Ser)
n.2754T>C
9g.104825859A>TCA374321462ABCA1c.2366T>A (p.Phe789Tyr)
n.539T>A
c.2186T>A (p.Phe729Tyr)
c.2441T>A (p.Phe814Tyr)
c.2003T>A (p.Phe668Tyr)
c.2303T>A (p.Phe768Tyr)
n.2754T>A

Number of alleles fetched