| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104825752C>A | CA374321114 | ABCA1 | c.2473G>T (p.Val825Phe) n.646G>T c.2293G>T (p.Val765Phe) c.2548G>T (p.Val850Phe) c.2110G>T (p.Val704Phe) c.2410G>T (p.Val804Phe) n.2861G>T | |
| 9 | g.104825752C= | CA1869915036 | ABCA1 | c.2473G= (p.Val825=) n.646G= c.2293G= (p.Val765=) c.2548G= (p.Val850=) c.2110G= (p.Val704=) c.2410G= (p.Val804=) n.2861G= | |
| 9 | g.104825752C>G | CA374321116 | ABCA1 | c.2473G>C (p.Val825Leu) n.646G>C c.2293G>C (p.Val765Leu) c.2548G>C (p.Val850Leu) c.2110G>C (p.Val704Leu) c.2410G>C (p.Val804Leu) n.2861G>C | |
| 9 | g.104825752C>T | CA5168723 | ABCA1 | c.2473G>A (p.Val825Ile) n.646G>A c.2293G>A (p.Val765Ile) c.2548G>A (p.Val850Ile) c.2110G>A (p.Val704Ile) c.2410G>A (p.Val804Ile) n.2861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104825753C>A | CA466506898 | ABCA1 | c.2472G>T (p.Ser824=) n.645G>T c.2292G>T (p.Ser764=) c.2547G>T (p.Ser849=) c.2109G>T (p.Ser703=) c.2409G>T (p.Ser803=) n.2860G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825753C= | CA1869915046 | ABCA1 | c.2472G= (p.Ser824=) n.645G= c.2292G= (p.Ser764=) c.2547G= (p.Ser849=) c.2109G= (p.Ser703=) c.2409G= (p.Ser803=) n.2860G= | |
| 9 | g.104825753C>G | CA5168725 | ABCA1 | c.2472G>C (p.Ser824=) n.645G>C c.2292G>C (p.Ser764=) c.2547G>C (p.Ser849=) c.2109G>C (p.Ser703=) c.2409G>C (p.Ser803=) n.2860G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825753C>T | CA5168724 | ABCA1 | c.2472G>A (p.Ser824=) n.645G>A c.2292G>A (p.Ser764=) c.2547G>A (p.Ser849=) c.2109G>A (p.Ser703=) c.2409G>A (p.Ser803=) n.2860G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825754G>A | CA5168726 | ABCA1 | c.2471C>T (p.Ser824Leu) n.644C>T c.2291C>T (p.Ser764Leu) c.2546C>T (p.Ser849Leu) c.2108C>T (p.Ser703Leu) c.2408C>T (p.Ser803Leu) n.2859C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104825754G>C | CA374321120 | ABCA1 | c.2471C>G (p.Ser824Trp) n.644C>G c.2291C>G (p.Ser764Trp) c.2546C>G (p.Ser849Trp) c.2108C>G (p.Ser703Trp) c.2408C>G (p.Ser803Trp) n.2859C>G | |
| 9 | g.104825754G= | CA1869915050 | ABCA1 | c.2471C= (p.Ser824=) n.644C= c.2291C= (p.Ser764=) c.2546C= (p.Ser849=) c.2108C= (p.Ser703=) c.2408C= (p.Ser803=) n.2859C= | |
| 9 | g.104825754G>T | CA374321121 | ABCA1 | c.2471C>A (p.Ser824Ter) n.644C>A c.2291C>A (p.Ser764Ter) c.2546C>A (p.Ser849Ter) c.2108C>A (p.Ser703Ter) c.2408C>A (p.Ser803Ter) n.2859C>A | |
| 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 |