Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104822527C>A | CA374320159 | ABCA1 | c.2797G>T (p.Gly933Cys) c.2617G>T (p.Gly873Cys) c.2872G>T (p.Gly958Cys) c.2434G>T (p.Gly812Cys) c.2734G>T (p.Gly912Cys) n.3185G>T | |
9 | g.104822527C>G | CA374320160 | ABCA1 | c.2797G>C (p.Gly933Arg) c.2617G>C (p.Gly873Arg) c.2872G>C (p.Gly958Arg) c.2434G>C (p.Gly812Arg) c.2734G>C (p.Gly912Arg) n.3185G>C | |
9 | g.104822527C>T | CA374320161 | ABCA1 | c.2797G>A (p.Gly933Ser) c.2617G>A (p.Gly873Ser) c.2872G>A (p.Gly958Ser) c.2434G>A (p.Gly812Ser) c.2734G>A (p.Gly912Ser) n.3185G>A | |
9 | g.104822528C>A | CA466506700 | ABCA1 | c.2796G>T (p.Leu932=) c.2616G>T (p.Leu872=) c.2871G>T (p.Leu957=) c.2433G>T (p.Leu811=) c.2733G>T (p.Leu911=) n.3184G>T | |
9 | g.104822528C>G | CA466506701 | ABCA1 | c.2796G>C (p.Leu932=) c.2616G>C (p.Leu872=) c.2871G>C (p.Leu957=) c.2433G>C (p.Leu811=) c.2733G>C (p.Leu911=) n.3184G>C | |
9 | g.104822528C>T | CA466506702 | ABCA1 | c.2796G>A (p.Leu932=) c.2616G>A (p.Leu872=) c.2871G>A (p.Leu957=) c.2433G>A (p.Leu811=) c.2733G>A (p.Leu911=) n.3184G>A | |
9 | g.104822529A>C | CA374320162 | ABCA1 | c.2795T>G (p.Leu932Arg) c.2615T>G (p.Leu872Arg) c.2870T>G (p.Leu957Arg) c.2432T>G (p.Leu811Arg) c.2732T>G (p.Leu911Arg) n.3183T>G | |
9 | g.104822529A>G | CA374320164 | ABCA1 | c.2795T>C (p.Leu932Pro) c.2615T>C (p.Leu872Pro) c.2870T>C (p.Leu957Pro) c.2432T>C (p.Leu811Pro) c.2732T>C (p.Leu911Pro) n.3183T>C | |
9 | g.104822529A>T | CA374320163 | ABCA1 | c.2795T>A (p.Leu932Gln) c.2615T>A (p.Leu872Gln) c.2870T>A (p.Leu957Gln) c.2432T>A (p.Leu811Gln) c.2732T>A (p.Leu911Gln) n.3183T>A | |
9 | g.104822530G>A | CA466506703 | ABCA1 | c.2794C>T (p.Leu932=) c.2614C>T (p.Leu872=) c.2869C>T (p.Leu957=) c.2431C>T (p.Leu811=) c.2731C>T (p.Leu911=) n.3182C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104822530G>C | CA374320165 | ABCA1 | c.2794C>G (p.Leu932Val) c.2614C>G (p.Leu872Val) c.2869C>G (p.Leu957Val) c.2431C>G (p.Leu811Val) c.2731C>G (p.Leu911Val) n.3182C>G | |
9 | g.104822530G= | CA1869954002 | ABCA1 | c.2794C= (p.Leu932=) c.2614C= (p.Leu872=) c.2869C= (p.Leu957=) c.2431C= (p.Leu811=) c.2731C= (p.Leu911=) n.3182C= | |
9 | g.104822530G>T | CA374320166 | ABCA1 | c.2794C>A (p.Leu932Met) c.2614C>A (p.Leu872Met) c.2869C>A (p.Leu957Met) c.2431C>A (p.Leu811Met) c.2731C>A (p.Leu911Met) n.3182C>A | COSMIC |
9 | g.104822531G>A | CA466506704 | ABCA1 | c.2793C>T (p.Phe931=) c.2613C>T (p.Phe871=) c.2868C>T (p.Phe956=) c.2430C>T (p.Phe810=) c.2730C>T (p.Phe910=) n.3181C>T | |
9 | g.104822531G>C | CA374320167 | ABCA1 | c.2793C>G (p.Phe931Leu) c.2613C>G (p.Phe871Leu) c.2868C>G (p.Phe956Leu) c.2430C>G (p.Phe810Leu) c.2730C>G (p.Phe910Leu) n.3181C>G | |
9 | g.104822531G>T | CA374320168 | ABCA1 | c.2793C>A (p.Phe931Leu) c.2613C>A (p.Phe871Leu) c.2868C>A (p.Phe956Leu) c.2430C>A (p.Phe810Leu) c.2730C>A (p.Phe910Leu) n.3181C>A | gnomAD v4 |
9 | g.104822532A>C | CA374320171 | ABCA1 | c.2792T>G (p.Phe931Cys) c.2612T>G (p.Phe871Cys) c.2867T>G (p.Phe956Cys) c.2429T>G (p.Phe810Cys) c.2729T>G (p.Phe910Cys) n.3180T>G | |
9 | g.104822532A>G | CA374320169 | ABCA1 | c.2792T>C (p.Phe931Ser) c.2612T>C (p.Phe871Ser) c.2867T>C (p.Phe956Ser) c.2429T>C (p.Phe810Ser) c.2729T>C (p.Phe910Ser) n.3180T>C | |
9 | g.104822532A>T | CA374320170 | ABCA1 | c.2792T>A (p.Phe931Tyr) c.2612T>A (p.Phe871Tyr) c.2867T>A (p.Phe956Tyr) c.2429T>A (p.Phe810Tyr) c.2729T>A (p.Phe910Tyr) n.3180T>A | |
9 | g.104822533A>C | CA374320172 | ABCA1 | c.2791T>G (p.Phe931Val) c.2611T>G (p.Phe871Val) c.2866T>G (p.Phe956Val) c.2428T>G (p.Phe810Val) c.2728T>G (p.Phe910Val) n.3179T>G | |
9 | g.104822533A>G | CA374320173 | ABCA1 | c.2791T>C (p.Phe931Leu) c.2611T>C (p.Phe871Leu) c.2866T>C (p.Phe956Leu) c.2428T>C (p.Phe810Leu) c.2728T>C (p.Phe910Leu) n.3179T>C | gnomAD v4 |
9 | g.104822533A>T | CA374320174 | ABCA1 | c.2791T>A (p.Phe931Ile) c.2611T>A (p.Phe871Ile) c.2866T>A (p.Phe956Ile) c.2428T>A (p.Phe810Ile) c.2728T>A (p.Phe910Ile) n.3179T>A | |
9 | g.104822534G>A | CA466506705 | ABCA1 | c.2790C>T (p.Ser930=) c.2610C>T (p.Ser870=) c.2865C>T (p.Ser955=) c.2427C>T (p.Ser809=) c.2727C>T (p.Ser909=) n.3178C>T | |
9 | g.104822534G>C | CA466506706 | ABCA1 | c.2790C>G (p.Ser930=) c.2610C>G (p.Ser870=) c.2865C>G (p.Ser955=) c.2427C>G (p.Ser809=) c.2727C>G (p.Ser909=) n.3178C>G | |
9 | g.104822534G>T | CA466506707 | ABCA1 | c.2790C>A (p.Ser930=) c.2610C>A (p.Ser870=) c.2865C>A (p.Ser955=) c.2427C>A (p.Ser809=) c.2727C>A (p.Ser909=) n.3178C>A | |
9 | g.104822535G>A | CA374320175 | ABCA1 | c.2789C>T (p.Ser930Phe) c.2609C>T (p.Ser870Phe) c.2864C>T (p.Ser955Phe) c.2426C>T (p.Ser809Phe) c.2726C>T (p.Ser909Phe) n.3177C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104822535G>C | CA374320176 | ABCA1 | c.2789C>G (p.Ser930Cys) c.2609C>G (p.Ser870Cys) c.2864C>G (p.Ser955Cys) c.2426C>G (p.Ser809Cys) c.2726C>G (p.Ser909Cys) n.3177C>G | |
9 | g.104822535G= | CA1869954004 | ABCA1 | c.2789C= (p.Ser930=) c.2609C= (p.Ser870=) c.2864C= (p.Ser955=) c.2426C= (p.Ser809=) c.2726C= (p.Ser909=) n.3177C= | |
9 | g.104822535G>T | CA374320177 | ABCA1 | c.2789C>A (p.Ser930Tyr) c.2609C>A (p.Ser870Tyr) c.2864C>A (p.Ser955Tyr) c.2426C>A (p.Ser809Tyr) c.2726C>A (p.Ser909Tyr) n.3177C>A | gnomAD v4 |
9 | g.104822536A= | CA1869954006 | ABCA1 | c.2788T= (p.Ser930=) c.2608T= (p.Ser870=) c.2863T= (p.Ser955=) c.2425T= (p.Ser809=) c.2725T= (p.Ser909=) n.3176T= | |
9 | g.104822536A>C | CA374320178 | ABCA1 | c.2788T>G (p.Ser930Ala) c.2608T>G (p.Ser870Ala) c.2863T>G (p.Ser955Ala) c.2425T>G (p.Ser809Ala) c.2725T>G (p.Ser909Ala) n.3176T>G | |
9 | g.104822536A>G | CA374320179 | ABCA1 | c.2788T>C (p.Ser930Pro) c.2608T>C (p.Ser870Pro) c.2863T>C (p.Ser955Pro) c.2425T>C (p.Ser809Pro) c.2725T>C (p.Ser909Pro) n.3176T>C | |
9 | g.104822536A>T | CA374320180 | ABCA1 | c.2788T>A (p.Ser930Thr) c.2608T>A (p.Ser870Thr) c.2863T>A (p.Ser955Thr) c.2425T>A (p.Ser809Thr) c.2725T>A (p.Ser909Thr) n.3176T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104822537G>A | CA466506708 | ABCA1 | c.2787C>T (p.Thr929=) c.2607C>T (p.Thr869=) c.2862C>T (p.Thr954=) c.2424C>T (p.Thr808=) c.2724C>T (p.Thr908=) n.3175C>T | |
9 | g.104822537G>C | CA466506709 | ABCA1 | c.2787C>G (p.Thr929=) c.2607C>G (p.Thr869=) c.2862C>G (p.Thr954=) c.2424C>G (p.Thr808=) c.2724C>G (p.Thr908=) n.3175C>G | |
9 | g.104822537G= | CA1869954009 | ABCA1 | c.2787C= (p.Thr929=) c.2607C= (p.Thr869=) c.2862C= (p.Thr954=) c.2424C= (p.Thr808=) c.2724C= (p.Thr908=) n.3175C= | |
9 | g.104822537G>T | CA466506710 | ABCA1 | c.2787C>A (p.Thr929=) c.2607C>A (p.Thr869=) c.2862C>A (p.Thr954=) c.2424C>A (p.Thr808=) c.2724C>A (p.Thr908=) n.3175C>A | dbSNP gnomAD v4 |
9 | g.104822538G>A | CA374320181 | ABCA1 | c.2786C>T (p.Thr929Ile) c.2606C>T (p.Thr869Ile) c.2861C>T (p.Thr954Ile) c.2423C>T (p.Thr808Ile) c.2723C>T (p.Thr908Ile) n.3174C>T | dbSNP gnomAD v4 |
9 | g.104822538G>C | CA374320182 | ABCA1 | c.2786C>G (p.Thr929Ser) c.2606C>G (p.Thr869Ser) c.2861C>G (p.Thr954Ser) c.2423C>G (p.Thr808Ser) c.2723C>G (p.Thr908Ser) n.3174C>G | |
9 | g.104822538G= | CA1869954011 | ABCA1 | c.2786C= (p.Thr929=) c.2606C= (p.Thr869=) c.2861C= (p.Thr954=) c.2423C= (p.Thr808=) c.2723C= (p.Thr908=) n.3174C= | |
9 | g.104822538G>T | CA374320183 | ABCA1 | c.2786C>A (p.Thr929Asn) c.2606C>A (p.Thr869Asn) c.2861C>A (p.Thr954Asn) c.2423C>A (p.Thr808Asn) c.2723C>A (p.Thr908Asn) n.3174C>A | |
9 | g.104822539T>A | CA374320184 | ABCA1 | c.2785A>T (p.Thr929Ser) c.2605A>T (p.Thr869Ser) c.2860A>T (p.Thr954Ser) c.2422A>T (p.Thr808Ser) c.2722A>T (p.Thr908Ser) n.3173A>T | |
9 | g.104822539T>C | CA374320186 | ABCA1 | c.2785A>G (p.Thr929Ala) c.2605A>G (p.Thr869Ala) c.2860A>G (p.Thr954Ala) c.2422A>G (p.Thr808Ala) c.2722A>G (p.Thr908Ala) n.3173A>G | |
9 | g.104822539T>G | CA374320185 | ABCA1 | c.2785A>C (p.Thr929Pro) c.2605A>C (p.Thr869Pro) c.2860A>C (p.Thr954Pro) c.2422A>C (p.Thr808Pro) c.2722A>C (p.Thr908Pro) n.3173A>C | dbSNP |
9 | g.104822539T= | CA1869954013 | ABCA1 | c.2785A= (p.Thr929=) c.2605A= (p.Thr869=) c.2860A= (p.Thr954=) c.2422A= (p.Thr808=) c.2722A= (p.Thr908=) n.3173A= | |
9 | g.104822540G>A | CA466506711 | ABCA1 | c.2784C>T (p.Ile928=) c.2604C>T (p.Ile868=) c.2859C>T (p.Ile953=) c.2421C>T (p.Ile807=) c.2721C>T (p.Ile907=) n.3172C>T | |
9 | g.104822540G>C | CA374320187 | ABCA1 | c.2784C>G (p.Ile928Met) c.2604C>G (p.Ile868Met) c.2859C>G (p.Ile953Met) c.2421C>G (p.Ile807Met) c.2721C>G (p.Ile907Met) n.3172C>G | |
9 | g.104822540G>T | CA466506712 | ABCA1 | c.2784C>A (p.Ile928=) c.2604C>A (p.Ile868=) c.2859C>A (p.Ile953=) c.2421C>A (p.Ile807=) c.2721C>A (p.Ile907=) n.3172C>A | |
9 | g.104822541A>C | CA374320188 | ABCA1 | c.2783T>G (p.Ile928Ser) c.2603T>G (p.Ile868Ser) c.2858T>G (p.Ile953Ser) c.2420T>G (p.Ile807Ser) c.2720T>G (p.Ile907Ser) n.3171T>G | |
9 | g.104822541A>G | CA374320189 | ABCA1 | c.2783T>C (p.Ile928Thr) c.2603T>C (p.Ile868Thr) c.2858T>C (p.Ile953Thr) c.2420T>C (p.Ile807Thr) c.2720T>C (p.Ile907Thr) n.3171T>C |