Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104825755A>C | CA374321124 | ABCA1 | c.2470T>G (p.Ser824Ala) n.643T>G c.2290T>G (p.Ser764Ala) c.2545T>G (p.Ser849Ala) c.2107T>G (p.Ser703Ala) c.2407T>G (p.Ser803Ala) n.2858T>G | |
9 | g.104825755A>G | CA374321125 | ABCA1 | c.2470T>C (p.Ser824Pro) n.643T>C c.2290T>C (p.Ser764Pro) c.2545T>C (p.Ser849Pro) c.2107T>C (p.Ser703Pro) c.2407T>C (p.Ser803Pro) n.2858T>C | |
9 | g.104825755A>T | CA374321126 | ABCA1 | c.2470T>A (p.Ser824Thr) n.643T>A c.2290T>A (p.Ser764Thr) c.2545T>A (p.Ser849Thr) c.2107T>A (p.Ser703Thr) c.2407T>A (p.Ser803Thr) n.2858T>A | |
9 | g.104825756A>C | CA466506901 | ABCA1 | c.2469T>G (p.Thr823=) n.642T>G c.2289T>G (p.Thr763=) c.2544T>G (p.Thr848=) c.2106T>G (p.Thr702=) c.2406T>G (p.Thr802=) n.2857T>G | |
9 | g.104825756A>G | CA466506900 | ABCA1 | c.2469T>C (p.Thr823=) n.642T>C c.2289T>C (p.Thr763=) c.2544T>C (p.Thr848=) c.2106T>C (p.Thr702=) c.2406T>C (p.Thr802=) n.2857T>C | gnomAD v4 |
9 | g.104825756A>T | CA466506899 | ABCA1 | c.2469T>A (p.Thr823=) n.642T>A c.2289T>A (p.Thr763=) c.2544T>A (p.Thr848=) c.2106T>A (p.Thr702=) c.2406T>A (p.Thr802=) n.2857T>A | |
9 | g.104825757G>A | CA374321130 | ABCA1 | c.2468C>T (p.Thr823Ile) n.641C>T c.2288C>T (p.Thr763Ile) c.2543C>T (p.Thr848Ile) c.2105C>T (p.Thr702Ile) c.2405C>T (p.Thr802Ile) n.2856C>T | |
9 | g.104825757G>C | CA374321129 | ABCA1 | c.2468C>G (p.Thr823Ser) n.641C>G c.2288C>G (p.Thr763Ser) c.2543C>G (p.Thr848Ser) c.2105C>G (p.Thr702Ser) c.2405C>G (p.Thr802Ser) n.2856C>G | |
9 | g.104825757G>T | CA374321128 | ABCA1 | c.2468C>A (p.Thr823Asn) n.641C>A c.2288C>A (p.Thr763Asn) c.2543C>A (p.Thr848Asn) c.2105C>A (p.Thr702Asn) c.2405C>A (p.Thr802Asn) n.2856C>A | |
9 | g.104825758T>A | CA374321131 | ABCA1 | c.2467A>T (p.Thr823Ser) n.640A>T c.2287A>T (p.Thr763Ser) c.2542A>T (p.Thr848Ser) c.2104A>T (p.Thr702Ser) c.2404A>T (p.Thr802Ser) n.2855A>T | |
9 | g.104825758T>C | CA374321132 | ABCA1 | c.2467A>G (p.Thr823Ala) n.640A>G c.2287A>G (p.Thr763Ala) c.2542A>G (p.Thr848Ala) c.2104A>G (p.Thr702Ala) c.2404A>G (p.Thr802Ala) n.2855A>G | |
9 | g.104825758T>G | CA374321134 | ABCA1 | c.2467A>C (p.Thr823Pro) n.640A>C c.2287A>C (p.Thr763Pro) c.2542A>C (p.Thr848Pro) c.2104A>C (p.Thr702Pro) c.2404A>C (p.Thr802Pro) n.2855A>C | |
9 | g.104825759G>A | CA466506902 | ABCA1 | c.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 |
9 | g.104825759G>C | CA466506903 | ABCA1 | c.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 | |
9 | g.104825759G= | CA1869915052 | ABCA1 | c.2466C= (p.Thr822=) n.639C= c.2286C= (p.Thr762=) c.2541C= (p.Thr847=) c.2103C= (p.Thr701=) c.2403C= (p.Thr801=) n.2854C= | |
9 | g.104825759G>T | CA466506904 | ABCA1 | c.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 | |
9 | g.104825760G>A | CA374321136 | ABCA1 | c.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 | |
9 | g.104825760G>C | CA374321137 | ABCA1 | c.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 | |
9 | g.104825760G>T | CA374321139 | ABCA1 | c.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 | |
9 | g.104825761T>A | CA374321141 | ABCA1 | c.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 | |
9 | g.104825761T>C | CA374321145 | ABCA1 | c.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 | |
9 | g.104825761T>G | CA374321143 | ABCA1 | c.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 |
9 | g.104825762G>A | CA466506905 | ABCA1 | c.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 | |
9 | g.104825762G>C | CA466506906 | ABCA1 | c.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 | |
9 | g.104825762G>T | CA466506907 | ABCA1 | c.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 | |
9 | g.104825763A>C | CA374321146 | ABCA1 | c.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 | |
9 | g.104825763A>G | CA374321148 | ABCA1 | c.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 | |
9 | g.104825763A>T | CA374321149 | ABCA1 | c.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 | |
9 | g.104825764G>A | CA374321151 | ABCA1 | c.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 |
9 | g.104825764G>C | CA374321153 | ABCA1 | c.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 |
9 | g.104825764G= | CA1869915054 | ABCA1 | c.2461C= (p.Leu821=) n.634C= c.2281C= (p.Leu761=) c.2536C= (p.Leu846=) c.2098C= (p.Leu700=) c.2398C= (p.Leu800=) n.2849C= | |
9 | g.104825764G>T | CA374321154 | ABCA1 | c.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 | |
9 | g.104825765A>C | CA374321156 | ABCA1 | c.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 | |
9 | g.104825765A>G | CA466506908 | ABCA1 | c.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 | |
9 | g.104825765A>T | CA374321157 | ABCA1 | c.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 | |
9 | g.104825766T>A | CA374321158 | ABCA1 | c.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 | |
9 | g.104825766T>C | CA5168727 | ABCA1 | c.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 |
9 | g.104825766T>G | CA374321159 | ABCA1 | c.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 | |
9 | g.104825766T= | CA1869915056 | ABCA1 | c.2459A= (p.Asn820=) n.632A= c.2279A= (p.Asn760=) c.2534A= (p.Asn845=) c.2096A= (p.Asn699=) c.2396A= (p.Asn799=) n.2847A= | |
9 | g.104825767T>A | CA374321161 | ABCA1 | c.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 | |
9 | g.104825767T>C | CA374321165 | ABCA1 | c.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 | |
9 | g.104825767T>G | CA374321163 | ABCA1 | c.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 | |
9 | g.104825768G>A | CA5168728 | ABCA1 | c.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 |
9 | g.104825768G>C | CA374321167 | ABCA1 | c.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 | |
9 | g.104825768G= | CA1869915061 | ABCA1 | c.2457C= (p.Phe819=) n.630C= c.2277C= (p.Phe759=) c.2532C= (p.Phe844=) c.2094C= (p.Phe698=) c.2394C= (p.Phe798=) n.2845C= | |
9 | g.104825768G>T | CA374321169 | ABCA1 | c.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 | |
9 | g.104825769A>C | CA374321170 | ABCA1 | c.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 | |
9 | g.104825769A>G | CA374321172 | ABCA1 | c.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 |
9 | g.104825769A>T | CA374321176 | ABCA1 | c.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 | |
9 | g.104825769_104825772dup | CA2691055770 | ABCA1 | c.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 |
9 | g.104825770A>C | CA374321182 | ABCA1 | c.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 | |
9 | g.104825770A>G | CA374321179 | ABCA1 | c.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 | |
9 | g.104825770A>T | CA374321177 | ABCA1 | c.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 | |
9 | g.104825771G>A | CA466506911 | ABCA1 | c.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 | |
9 | g.104825771G>C | CA466506910 | ABCA1 | c.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 | |
9 | g.104825771G>T | CA466506909 | ABCA1 | c.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 | |
9 | g.104825772C>A | CA374321183 | ABCA1 | c.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 | |
9 | g.104825772C>G | CA374321184 | ABCA1 | c.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 | |
9 | g.104825772C>T | CA374321185 | ABCA1 | c.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 | |
9 | g.104825773C>A | CA374321186 | ABCA1 | c.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 | |
9 | g.104825773C>G | CA374321187 | ABCA1 | c.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 | |
9 | g.104825773C>T | CA374321188 | ABCA1 | c.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 | |
9 | g.104825774A= | CA1869915064 | ABCA1 | c.2451T= (p.Asp817=) n.624T= c.2271T= (p.Asp757=) c.2526T= (p.Asp842=) c.2088T= (p.Asp696=) c.2388T= (p.Asp796=) n.2839T= | |
9 | g.104825774A>C | CA374321189 | ABCA1 | c.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 | |
9 | g.104825774A>G | CA5168729 | ABCA1 | c.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 |
9 | g.104825774A>T | CA374321190 | ABCA1 | c.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 | |
9 | g.104825775T>A | CA374321192 | ABCA1 | c.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 | |
9 | g.104825775T>C | CA374321194 | ABCA1 | c.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 |
9 | g.104825775T>G | CA374321195 | ABCA1 | c.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 | |
9 | g.104825776C>A | CA374321197 | ABCA1 | c.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 | |
9 | g.104825776C>G | CA374321200 | ABCA1 | c.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 | |
9 | g.104825776C>T | CA374321202 | ABCA1 | c.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 |
9 | g.104825777T>A | CA374321203 | ABCA1 | c.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 | |
9 | g.104825777T>C | CA466506912 | ABCA1 | c.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 |
9 | g.104825777T>G | CA374321205 | ABCA1 | c.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 | |
9 | g.104825778T>A | CA374321207 | ABCA1 | c.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 | |
9 | g.104825778T>C | CA374321209 | ABCA1 | c.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 | |
9 | g.104825778T>G | CA374321211 | ABCA1 | c.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 | |
9 | g.104825779C>A | CA374321212 | ABCA1 | c.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 | |
9 | g.104825779C>G | CA374321217 | ABCA1 | c.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 | |
9 | g.104825779C>T | CA374321214 | ABCA1 | c.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 | |
9 | g.104825780C>A | CA197392918 | ABCA1 | c.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 |
9 | g.104825780C= | CA1869915068 | ABCA1 | c.2445G= (p.Glu815=) n.618G= c.2265G= (p.Glu755=) c.2520G= (p.Glu840=) c.2082G= (p.Glu694=) c.2382G= (p.Glu794=) n.2833G= | |
9 | g.104825780C>G | CA374321218 | ABCA1 | c.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 | |
9 | g.104825780C>T | CA466506913 | ABCA1 | c.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 |
9 | g.104825781T>A | CA374321220 | ABCA1 | c.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 | |
9 | g.104825781T>C | CA5168730 | ABCA1 | c.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 |
9 | g.104825781T>G | CA374321222 | ABCA1 | c.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 | |
9 | g.104825781T= | CA1869915072 | ABCA1 | c.2444A= (p.Glu815=) n.617A= c.2264A= (p.Glu755=) c.2519A= (p.Glu840=) c.2081A= (p.Glu694=) c.2381A= (p.Glu794=) n.2832A= | |
9 | g.104825782C>A | CA374321225 | ABCA1 | c.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 | |
9 | g.104825782C>G | CA374321226 | ABCA1 | c.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 | |
9 | g.104825782C>T | CA374321228 | ABCA1 | c.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 | |
9 | g.104825783C>A | CA466506914 | ABCA1 | c.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 | |
9 | g.104825783C= | CA1869915078 | ABCA1 | c.2442G= (p.Val814=) n.615G= c.2262G= (p.Val754=) c.2517G= (p.Val839=) c.2079G= (p.Val693=) c.2379G= (p.Val793=) n.2830G= | |
9 | g.104825783C>G | CA466506915 | ABCA1 | c.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 | |
9 | g.104825783C>T | CA5168731 | ABCA1 | c.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 |
9 | g.104825784A>C | CA374321231 | ABCA1 | c.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 | |
9 | g.104825784A>G | CA374321232 | ABCA1 | c.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 | |
9 | g.104825784A>T | CA374321234 | ABCA1 | c.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 | |
9 | g.104825785C>A | CA374321238 | ABCA1 | c.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 |
9 | g.104825785C= | CA1869915083 | ABCA1 | c.2440G= (p.Val814=) n.613G= c.2260G= (p.Val754=) c.2515G= (p.Val839=) c.2077G= (p.Val693=) c.2377G= (p.Val793=) n.2828G= | |
9 | g.104825785C>G | CA374321236 | ABCA1 | c.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 | |
9 | g.104825785C>T | CA5168732 | ABCA1 | c.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 |
9 | g.104825786A= | CA1869915087 | ABCA1 | c.2439T= (p.Pro813=) n.612T= c.2259T= (p.Pro753=) c.2514T= (p.Pro838=) c.2076T= (p.Pro692=) c.2376T= (p.Pro792=) n.2827T= | |
9 | g.104825786A>C | CA466506918 | ABCA1 | c.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 | |
9 | g.104825786A>G | CA5168733 | ABCA1 | c.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 |
9 | g.104825786A>T | CA466506919 | ABCA1 | c.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 | |
9 | g.104825787G>A | CA374321241 | ABCA1 | c.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 |
9 | g.104825787G>C | CA374321242 | ABCA1 | c.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 | |
9 | g.104825787G>T | CA374321243 | ABCA1 | c.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 |
9 | g.104825788G>A | CA374321246 | ABCA1 | c.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 |
9 | g.104825788G>C | CA374321247 | ABCA1 | c.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 |
9 | g.104825788G= | CA1869915097 | ABCA1 | c.2437C= (p.Pro813=) n.610C= c.2257C= (p.Pro753=) c.2512C= (p.Pro838=) c.2074C= (p.Pro692=) c.2374C= (p.Pro792=) n.2825C= | |
9 | g.104825788G>T | CA374321249 | ABCA1 | c.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 | |
9 | g.104825789A>C | CA374321251 | ABCA1 | c.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 | |
9 | g.104825789A>G | CA466506920 | ABCA1 | c.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 | |
9 | g.104825789A>T | CA374321253 | ABCA1 | c.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 | |
9 | g.104825790C>A | CA374321254 | ABCA1 | c.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 | |
9 | g.104825790C= | CA1869915100 | ABCA1 | c.2435G= (p.Ser812=) n.608G= c.2255G= (p.Ser752=) c.2510G= (p.Ser837=) c.2072G= (p.Ser691=) c.2372G= (p.Ser791=) n.2823G= | |
9 | g.104825790C>G | CA374321256 | ABCA1 | c.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 |
9 | g.104825790C>T | CA374321257 | ABCA1 | c.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 | |
9 | g.104825791T>A | CA374321260 | ABCA1 | c.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 |
9 | g.104825791T>C | CA374321261 | ABCA1 | c.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 | |
9 | g.104825791T>G | CA374321258 | ABCA1 | c.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 | |
9 | g.104825791T= | CA1869915104 | ABCA1 | c.2434A= (p.Ser812=) n.607A= c.2254A= (p.Ser752=) c.2509A= (p.Ser837=) c.2071A= (p.Ser691=) c.2371A= (p.Ser791=) n.2822A= | |
9 | g.104825792C>A | CA374321264 | ABCA1 | c.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 | |
9 | g.104825792C>G | CA374321263 | ABCA1 | c.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 | |
9 | g.104825792C>T | CA466506921 | ABCA1 | c.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 | |
9 | g.104825793T>A | CA374321269 | ABCA1 | c.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 | |
9 | g.104825793T>C | CA374321266 | ABCA1 | c.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 |
9 | g.104825793T>G | CA374321268 | ABCA1 | c.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 | |
9 | g.104825794C>A | CA374321271 | ABCA1 | c.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 | |
9 | g.104825794C>G | CA374321273 | ABCA1 | c.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 | |
9 | g.104825794C>T | CA374321275 | ABCA1 | c.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 | |
9 | g.104825795A>C | CA374321277 | ABCA1 | c.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 | |
9 | g.104825795A>G | CA466506922 | ABCA1 | c.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 | |
9 | g.104825795A>T | CA374321278 | ABCA1 | c.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 | |
9 | g.104825796A>C | CA374321279 | ABCA1 | c.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 | |
9 | g.104825796A>G | CA374321282 | ABCA1 | c.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 | |
9 | g.104825796A>T | CA374321280 | ABCA1 | c.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 | |
9 | g.104825797A>C | CA374321284 | ABCA1 | c.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 | |
9 | g.104825797A>G | CA374321286 | ABCA1 | c.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 | |
9 | g.104825797A>T | CA374321288 | ABCA1 | c.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 | |
9 | g.104825798C>A | CA466506923 | ABCA1 | c.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 |
9 | g.104825798C= | CA1869915109 | ABCA1 | c.2427G= (p.Leu809=) n.600G= c.2247G= (p.Leu749=) c.2502G= (p.Leu834=) c.2064G= (p.Leu688=) c.2364G= (p.Leu788=) n.2815G= | |
9 | g.104825798C>G | CA466506924 | ABCA1 | c.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 | |
9 | g.104825798C>T | CA5168734 | ABCA1 | c.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 |
9 | g.104825799A>C | CA374321294 | ABCA1 | c.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 | |
9 | g.104825799A>G | CA374321290 | ABCA1 | c.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 | |
9 | g.104825799A>T | CA374321292 | ABCA1 | c.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 | |
9 | g.104825800G>A | CA466506925 | ABCA1 | c.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 | |
9 | g.104825800G>C | CA374321295 | ABCA1 | c.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 |
9 | g.104825800G>T | CA374321297 | ABCA1 | c.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 | |
9 | g.104825801G>A | CA466506926 | ABCA1 | c.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 |
9 | g.104825801G>C | CA197392943 | ABCA1 | c.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 |
9 | g.104825801G= | CA1869915114 | ABCA1 | c.2424C= (p.Asn808=) n.597C= c.2244C= (p.Asn748=) c.2499C= (p.Asn833=) c.2061C= (p.Asn687=) c.2361C= (p.Asn787=) n.2812C= | |
9 | g.104825801G>T | CA374321301 | ABCA1 | c.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 | |
9 | g.104825802T>A | CA374321303 | ABCA1 | c.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 | |
9 | g.104825802T>C | CA374321305 | ABCA1 | c.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 | |
9 | g.104825802T>G | CA374321307 | ABCA1 | c.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 | |
9 | g.104825803T>A | CA374321309 | ABCA1 | c.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 | |
9 | g.104825803T>C | CA374321311 | ABCA1 | c.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 | |
9 | g.104825803T>G | CA374321313 | ABCA1 | c.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 | |
9 | g.104825804G>A | CA466506928 | ABCA1 | c.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 | |
9 | g.104825804G>C | CA374321315 | ABCA1 | c.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 |
9 | g.104825804G= | CA1869915119 | ABCA1 | c.2421C= (p.Asp807=) n.594C= c.2241C= (p.Asp747=) c.2496C= (p.Asp832=) c.2058C= (p.Asp686=) c.2358C= (p.Asp786=) n.2809C= | |
9 | g.104825804G>T | CA374321317 | ABCA1 | c.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 | |
9 | g.104825805T>A | CA374321319 | ABCA1 | c.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 | |
9 | g.104825805T>C | CA374321323 | ABCA1 | c.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 | |
9 | g.104825805T>G | CA374321321 | ABCA1 | c.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 | |
9 | g.104825806C>A | CA374321324 | ABCA1 | c.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 | |
9 | g.104825806C= | CA1869915123 | ABCA1 | c.2419G= (p.Asp807=) n.592G= c.2239G= (p.Asp747=) c.2494G= (p.Asp832=) c.2056G= (p.Asp686=) c.2356G= (p.Asp786=) n.2807G= | |
9 | g.104825806C>G | CA374321326 | ABCA1 | c.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 | |
9 | g.104825806C>T | CA5168735 | ABCA1 | c.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 |
9 | g.104825807C>A | CA374321329 | ABCA1 | c.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 |
9 | g.104825807C>G | CA374321330 | ABCA1 | c.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 | |
9 | g.104825807C>T | CA374321332 | ABCA1 | c.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 | |
9 | g.104825808C>A | CA374321334 | ABCA1 | c.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 | |
9 | g.104825808C>G | CA374321336 | ABCA1 | c.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 | |
9 | g.104825808C>T | CA374321337 | ABCA1 | c.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 | |
9 | g.104825809A>C | CA374321339 | ABCA1 | c.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 |
9 | g.104825809A>G | CA374321341 | ABCA1 | c.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 | |
9 | g.104825809A>T | CA374321342 | ABCA1 | c.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 | |
9 | g.104825810C>A | CA374321346 | ABCA1 | c.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 |
9 | g.104825810C= | CA1869915127 | ABCA1 | c.2415G= (p.Gln805=) n.588G= c.2235G= (p.Gln745=) c.2490G= (p.Gln830=) c.2052G= (p.Gln684=) c.2352G= (p.Gln784=) n.2803G= | |
9 | g.104825810C>G | CA374321344 | ABCA1 | c.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 | |
9 | g.104825810C>T | CA466506929 | ABCA1 | c.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 |
9 | g.104825811T>A | CA374321348 | ABCA1 | c.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 | |
9 | g.104825811T>C | CA374321349 | ABCA1 | c.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 | |
9 | g.104825811T>G | CA5168736 | ABCA1 | c.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 |
9 | g.104825811T= | CA1869915129 | ABCA1 | c.2414A= (p.Gln805=) n.587A= c.2234A= (p.Gln745=) c.2489A= (p.Gln830=) c.2051A= (p.Gln684=) c.2351A= (p.Gln784=) n.2802A= | |
9 | g.104825812G>A | CA374321352 | ABCA1 | c.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 | |
9 | g.104825812G>C | CA374321354 | ABCA1 | c.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 | |
9 | g.104825812G>T | CA374321355 | ABCA1 | c.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 | |
9 | g.104825813C>A | CA466506930 | ABCA1 | c.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 | |
9 | g.104825813C= | CA1869915133 | ABCA1 | c.2412G= (p.Val804=) n.585G= c.2232G= (p.Val744=) c.2487G= (p.Val829=) c.2049G= (p.Val683=) c.2349G= (p.Val783=) n.2800G= | |
9 | g.104825813C>G | CA466506931 | ABCA1 | c.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 | |
9 | g.104825813C>T | CA466506932 | ABCA1 | c.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 |
9 | g.104825814A>C | CA374321356 | ABCA1 | c.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 | |
9 | g.104825814A>G | CA374321357 | ABCA1 | c.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 | |
9 | g.104825814A>T | CA374321358 | ABCA1 | c.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 | |
9 | g.104825815C>A | CA374321359 | ABCA1 | c.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 |
9 | g.104825815C= | CA1869915135 | ABCA1 | c.2410G= (p.Val804=) n.583G= c.2230G= (p.Val744=) c.2485G= (p.Val829=) c.2047G= (p.Val683=) c.2347G= (p.Val783=) n.2798G= | |
9 | g.104825815C>G | CA374321360 | ABCA1 | c.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 | |
9 | g.104825815C>T | CA5168737 | ABCA1 | c.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 |
9 | g.104825816T>A | CA466506933 | ABCA1 | c.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 | |
9 | g.104825816T>C | CA466506934 | ABCA1 | c.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 | |
9 | g.104825816T>G | CA466506935 | ABCA1 | c.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 |
9 | g.104825816T= | CA1869915138 | ABCA1 | c.2409A= (p.Gly803=) n.582A= c.2229A= (p.Gly743=) c.2484A= (p.Gly828=) c.2046A= (p.Gly682=) c.2346A= (p.Gly782=) n.2797A= | |
9 | g.104825817C>A | CA374321362 | ABCA1 | c.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 | |
9 | g.104825817C>G | CA374321363 | ABCA1 | c.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 | |
9 | g.104825817C>T | CA374321361 | ABCA1 | c.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 | |
9 | g.104825818C>A | CA374321364 | ABCA1 | c.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 | |
9 | g.104825818C>G | CA374321365 | ABCA1 | c.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 | |
9 | g.104825818C>T | CA374321366 | ABCA1 | c.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 | |
9 | g.104825819A>C | CA374321367 | ABCA1 | c.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 | |
9 | g.104825819A>G | CA466506937 | ABCA1 | c.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 | |
9 | g.104825819A>T | CA466506936 | ABCA1 | c.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 | |
9 | g.104825820A= | CA1869915139 | ABCA1 | c.2405T= (p.Ile802=) n.578T= c.2225T= (p.Ile742=) c.2480T= (p.Ile827=) c.2042T= (p.Ile681=) c.2342T= (p.Ile781=) n.2793T= | |
9 | g.104825820A>C | CA374321368 | ABCA1 | c.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 | |
9 | g.104825820A>G | CA374321369 | ABCA1 | c.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 |
9 | g.104825820A>T | CA374321370 | ABCA1 | c.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 | |
9 | g.104825821T>A | CA5168739 | ABCA1 | c.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 |
9 | g.104825821T>C | CA5168738 | ABCA1 | c.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 |
9 | g.104825821T>G | CA374321371 | ABCA1 | c.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 | |
9 | g.104825821T= | CA1869915148 | ABCA1 | c.2404A= (p.Ile802=) n.577A= c.2224A= (p.Ile742=) c.2479A= (p.Ile827=) c.2041A= (p.Ile681=) c.2341A= (p.Ile781=) n.2792A= | |
9 | g.104825822G>A | CA466506940 | ABCA1 | c.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 | |
9 | g.104825822G>C | CA466506939 | ABCA1 | c.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 | |
9 | g.104825822G>T | CA466506938 | ABCA1 | c.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 | |
9 | g.104825823C>A | CA374321372 | ABCA1 | c.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 | |
9 | g.104825823C>G | CA374321373 | ABCA1 | c.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 | |
9 | g.104825823C>T | CA374321374 | ABCA1 | c.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 |
9 | g.104825824C>A | CA374321377 | ABCA1 | c.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 | |
9 | g.104825824C>G | CA374321376 | ABCA1 | c.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 | |
9 | g.104825824C>T | CA374321375 | ABCA1 | c.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 | |
9 | g.104825825C>A | CA374321378 | ABCA1 | c.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 | |
9 | g.104825825C= | CA1869915150 | ABCA1 | c.2400G= (p.Gln800=) n.573G= c.2220G= (p.Gln740=) c.2475G= (p.Gln825=) c.2037G= (p.Gln679=) c.2337G= (p.Gln779=) n.2788G= | |
9 | g.104825825C>G | CA374321379 | ABCA1 | c.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 | |
9 | g.104825825C>T | CA5168740 | ABCA1 | c.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 |
9 | g.104825826T>A | CA374321380 | ABCA1 | c.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 | |
9 | g.104825826T>C | CA374321381 | ABCA1 | c.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 | |
9 | g.104825826T>G | CA374321382 | ABCA1 | c.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 | |
9 | g.104825827G>A | CA374321383 | ABCA1 | c.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 |
9 | g.104825827G>C | CA374321384 | ABCA1 | c.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 | |
9 | g.104825827G= | CA1869915153 | ABCA1 | c.2398C= (p.Gln800=) n.571C= c.2218C= (p.Gln740=) c.2473C= (p.Gln825=) c.2035C= (p.Gln679=) c.2335C= (p.Gln779=) n.2786C= | |
9 | g.104825827G>T | CA374321385 | ABCA1 | c.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 | |
9 | g.104825828C>A | CA374321386 | ABCA1 | c.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 | |
9 | g.104825828C>G | CA374321387 | ABCA1 | c.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 | |
9 | g.104825828C>T | CA466506941 | ABCA1 | c.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 | |
9 | g.104825829T>A | CA374321388 | ABCA1 | c.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 | |
9 | g.104825829T>C | CA374321389 | ABCA1 | c.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 | |
9 | g.104825829T>G | CA374321390 | ABCA1 | c.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 | |
9 | g.104825830C>A | CA374321392 | ABCA1 | c.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 | |
9 | g.104825830C>G | CA374321393 | ABCA1 | c.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 | |
9 | g.104825830C>T | CA374321391 | ABCA1 | c.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 |
9 | g.104825831C>A | CA374321394 | ABCA1 | c.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 | |
9 | g.104825831C>G | CA374321395 | ABCA1 | c.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 | |
9 | g.104825831C>T | CA466506942 | ABCA1 | c.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 | |
9 | g.104825832T>A | CA374321396 | ABCA1 | c.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 | |
9 | g.104825832T>C | CA374321397 | ABCA1 | c.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 |
9 | g.104825832T>G | CA374321398 | ABCA1 | c.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 | |
9 | g.104825833C>A | CA374321399 | ABCA1 | c.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 | |
9 | g.104825833C>G | CA374321400 | ABCA1 | c.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 | |
9 | g.104825833C>T | CA374321401 | ABCA1 | c.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 | |
9 | g.104825833_104825834delinsCA | CA1869915158 | ABCA1 | c.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 | |
9 | g.104825834A>C | CA374321402 | ABCA1 | c.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 | |
9 | g.104825834A>G | CA466506943 | ABCA1 | c.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 | |
9 | g.104825834A>T | CA374321403 | ABCA1 | c.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 | |
9 | g.104825838dup | CA858046870 | ABCA1 | c.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 |
9 | g.104825838del | CA1869915163 | ABCA1 | c.2391del (p.Phe797LeufsTer?) n.564del c.2211del (p.Phe737LeufsTer?) c.2466del (p.Phe822LeufsTer?) c.2028del (p.Phe676LeufsTer?) c.2328del (p.Phe776LeufsTer?) n.2779del | dbSNP |
9 | g.104825835A>C | CA374321404 | ABCA1 | c.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 | |
9 | g.104825835A>G | CA374321405 | ABCA1 | c.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 | |
9 | g.104825835A>T | CA374321406 | ABCA1 | c.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 | |
9 | g.104825836A>C | CA374321409 | ABCA1 | c.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 | |
9 | g.104825836A>G | CA374321407 | ABCA1 | c.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 | |
9 | g.104825836A>T | CA374321408 | ABCA1 | c.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 |
9 | g.104825837A>C | CA466506944 | ABCA1 | c.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 | |
9 | g.104825837A>G | CA466506945 | ABCA1 | c.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 | |
9 | g.104825837A>T | CA466506946 | ABCA1 | c.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 |
9 | g.104825838A>C | CA374321410 | ABCA1 | c.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 | |
9 | g.104825838A>G | CA374321411 | ABCA1 | c.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 | |
9 | g.104825838A>T | CA374321412 | ABCA1 | c.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 | |
9 | g.104825839G>A | CA374321413 | ABCA1 | c.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 | |
9 | g.104825839G>C | CA374321414 | ABCA1 | c.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 | |
9 | g.104825839G>T | CA374321415 | ABCA1 | c.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 | |
9 | g.104825840G>A | CA466506947 | ABCA1 | c.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 |
9 | g.104825840G>C | CA466506948 | ABCA1 | c.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 | |
9 | g.104825840G= | CA1869915167 | ABCA1 | c.2385C= (p.Ala795=) n.558C= c.2205C= (p.Ala735=) c.2460C= (p.Ala820=) c.2022C= (p.Ala674=) c.2322C= (p.Ala774=) n.2773C= | |
9 | g.104825840G>T | CA466506949 | ABCA1 | c.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 | |
9 | g.104825841G>A | CA374321416 | ABCA1 | c.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 |
9 | g.104825841G>C | CA374321417 | ABCA1 | c.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 | |
9 | g.104825841G>T | CA374321418 | ABCA1 | c.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 | |
9 | g.104825842C>A | CA197392963 | ABCA1 | c.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 |
9 | g.104825842C= | CA1869915169 | ABCA1 | c.2383G= (p.Ala795=) n.556G= c.2203G= (p.Ala735=) c.2458G= (p.Ala820=) c.2020G= (p.Ala674=) c.2320G= (p.Ala774=) n.2771G= | |
9 | g.104825842C>G | CA374321419 | ABCA1 | c.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 | |
9 | g.104825842C>T | CA374321420 | ABCA1 | c.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 | |
9 | g.104825843A= | CA1869915172 | ABCA1 | c.2382T= (p.Phe794=) n.555T= c.2202T= (p.Phe734=) c.2457T= (p.Phe819=) c.2019T= (p.Phe673=) c.2319T= (p.Phe773=) n.2770T= | |
9 | g.104825843A>C | CA374321422 | ABCA1 | c.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 | |
9 | g.104825843A>G | CA5168741 | ABCA1 | c.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 |
9 | g.104825843A>T | CA374321421 | ABCA1 | c.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 | |
9 | g.104825844A>C | CA374321423 | ABCA1 | c.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 | |
9 | g.104825844A>G | CA374321424 | ABCA1 | c.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 | |
9 | g.104825844A>T | CA374321425 | ABCA1 | c.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 | |
9 | g.104825845A>C | CA374321426 | ABCA1 | c.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 | |
9 | g.104825845A>G | CA374321427 | ABCA1 | c.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 | |
9 | g.104825845A>T | CA374321428 | ABCA1 | c.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 | |
9 | g.104825846G>A | CA466506950 | ABCA1 | c.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 |
9 | g.104825846G>C | CA374321429 | ABCA1 | c.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 | |
9 | g.104825846G>T | CA374321430 | ABCA1 | c.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 | |
9 | g.104825847T>A | CA374321431 | ABCA1 | c.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 | |
9 | g.104825847T>C | CA374321432 | ABCA1 | c.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 |
9 | g.104825847T>G | CA374321433 | ABCA1 | c.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 |
9 | g.104825847T= | CA1869915176 | ABCA1 | c.2378A= (p.Tyr793=) n.551A= c.2198A= (p.Tyr733=) c.2453A= (p.Tyr818=) c.2015A= (p.Tyr672=) c.2315A= (p.Tyr772=) n.2766A= | |
9 | g.104825848A= | CA1869915179 | ABCA1 | c.2377T= (p.Tyr793=) n.550T= c.2197T= (p.Tyr733=) c.2452T= (p.Tyr818=) c.2014T= (p.Tyr672=) c.2314T= (p.Tyr772=) n.2765T= | |
9 | g.104825848A>C | CA374321434 | ABCA1 | c.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 | |
9 | g.104825848A>G | CA374321435 | ABCA1 | c.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 |
9 | g.104825848A>T | CA374321436 | ABCA1 | c.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 | |
9 | g.104825849C>A | CA374321438 | ABCA1 | c.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 | |
9 | g.104825849C>G | CA374321437 | ABCA1 | c.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 | |
9 | g.104825849C>T | CA466506951 | ABCA1 | c.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 | |
9 | g.104825850T>A | CA374321439 | ABCA1 | c.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 |
9 | g.104825850T>C | CA5168742 | ABCA1 | c.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 |
9 | g.104825850T>G | CA374321440 | ABCA1 | c.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 | |
9 | g.104825850T= | CA1869915183 | ABCA1 | c.2375A= (p.Glu792=) n.548A= c.2195A= (p.Glu732=) c.2450A= (p.Glu817=) c.2012A= (p.Glu671=) c.2312A= (p.Glu771=) n.2763A= | |
9 | g.104825851C>A | CA374321441 | ABCA1 | c.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 | |
9 | g.104825851C>G | CA374321442 | ABCA1 | c.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 | |
9 | g.104825851C>T | CA374321443 | ABCA1 | c.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 | |
9 | g.104825852A>C | CA374321445 | ABCA1 | c.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 | |
9 | g.104825852A>G | CA466506952 | ABCA1 | c.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 | |
9 | g.104825852A>T | CA374321444 | ABCA1 | c.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 | |
9 | g.104825853C>A | CA374321446 | ABCA1 | c.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 | |
9 | g.104825853C= | CA1869915187 | ABCA1 | c.2372G= (p.Cys791=) n.545G= c.2192G= (p.Cys731=) c.2447G= (p.Cys816=) c.2009G= (p.Cys670=) c.2309G= (p.Cys770=) n.2760G= | |
9 | g.104825853C>G | CA374321447 | ABCA1 | c.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 |
9 | g.104825853C>T | CA374321448 | ABCA1 | c.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 |
9 | g.104825854A>C | CA374321449 | ABCA1 | c.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 | |
9 | g.104825854A>G | CA374321450 | ABCA1 | c.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 | |
9 | g.104825854A>T | CA374321451 | ABCA1 | c.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 | |
9 | g.104825855G>A | CA466506955 | ABCA1 | c.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 | |
9 | g.104825855G>C | CA466506954 | ABCA1 | c.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 | |
9 | g.104825855G>T | CA466506953 | ABCA1 | c.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 |