| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104822520T>A | CA374320145 | ABCA1 | c.2804A>T (p.Asn935Ile) c.2624A>T (p.Asn875Ile) c.2879A>T (p.Asn960Ile) c.2441A>T (p.Asn814Ile) c.2741A>T (p.Asn914Ile) n.3192A>T | dbSNP |
| 9 | g.104822520T>C | CA212916 | ABCA1 | c.2804A>G (p.Asn935Ser) c.2624A>G (p.Asn875Ser) c.2879A>G (p.Asn960Ser) c.2441A>G (p.Asn814Ser) c.2741A>G (p.Asn914Ser) n.3192A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.104822520T>G | CA374320146 | ABCA1 | c.2804A>C (p.Asn935Thr) c.2624A>C (p.Asn875Thr) c.2879A>C (p.Asn960Thr) c.2441A>C (p.Asn814Thr) c.2741A>C (p.Asn914Thr) n.3192A>C | |
| 9 | g.104822520T= | CA1869953970 | ABCA1 | c.2804A= (p.Asn935=) c.2624A= (p.Asn875=) c.2879A= (p.Asn960=) c.2441A= (p.Asn814=) c.2741A= (p.Asn914=) n.3192A= | |
| 9 | g.104822521T>A | CA374320147 | ABCA1 | c.2803A>T (p.Asn935Tyr) c.2623A>T (p.Asn875Tyr) c.2878A>T (p.Asn960Tyr) c.2440A>T (p.Asn814Tyr) c.2740A>T (p.Asn914Tyr) n.3191A>T | |
| 9 | g.104822521T>C | CA16043668 | ABCA1 | c.2803A>G (p.Asn935Asp) c.2623A>G (p.Asn875Asp) c.2878A>G (p.Asn960Asp) c.2440A>G (p.Asn814Asp) c.2740A>G (p.Asn914Asp) n.3191A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.104822521T>G | CA120487 | ABCA1 | c.2803A>C (p.Asn935His) c.2623A>C (p.Asn875His) c.2878A>C (p.Asn960His) c.2440A>C (p.Asn814His) c.2740A>C (p.Asn914His) n.3191A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.104822521T= | CA1869953985 | ABCA1 | c.2803A= (p.Asn935=) c.2623A= (p.Asn875=) c.2878A= (p.Asn960=) c.2440A= (p.Asn814=) c.2740A= (p.Asn914=) n.3191A= | |
| 9 | g.104822522G>A | CA466506697 | ABCA1 | c.2802C>T (p.His934=) c.2622C>T (p.His874=) c.2877C>T (p.His959=) c.2439C>T (p.His813=) c.2739C>T (p.His913=) n.3190C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104822522G>C | CA374320148 | ABCA1 | c.2802C>G (p.His934Gln) c.2622C>G (p.His874Gln) c.2877C>G (p.His959Gln) c.2439C>G (p.His813Gln) c.2739C>G (p.His913Gln) n.3190C>G | |
| 9 | g.104822522G= | CA1869953997 | ABCA1 | c.2802C= (p.His934=) c.2622C= (p.His874=) c.2877C= (p.His959=) c.2439C= (p.His813=) c.2739C= (p.His913=) n.3190C= | |
| 9 | g.104822522G>T | CA374320149 | ABCA1 | c.2802C>A (p.His934Gln) c.2622C>A (p.His874Gln) c.2877C>A (p.His959Gln) c.2439C>A (p.His813Gln) c.2739C>A (p.His913Gln) n.3190C>A | |
| 9 | g.104822523T>A | CA374320150 | ABCA1 | c.2801A>T (p.His934Leu) c.2621A>T (p.His874Leu) c.2876A>T (p.His959Leu) c.2438A>T (p.His813Leu) c.2738A>T (p.His913Leu) n.3189A>T | |
| 9 | g.104822523T>C | CA374320151 | ABCA1 | c.2801A>G (p.His934Arg) c.2621A>G (p.His874Arg) c.2876A>G (p.His959Arg) c.2438A>G (p.His813Arg) c.2738A>G (p.His913Arg) n.3189A>G | |
| 9 | g.104822523T>G | CA374320152 | ABCA1 | c.2801A>C (p.His934Pro) c.2621A>C (p.His874Pro) c.2876A>C (p.His959Pro) c.2438A>C (p.His813Pro) c.2738A>C (p.His913Pro) n.3189A>C | |
| 9 | g.104822524G>A | CA374320154 | ABCA1 | c.2800C>T (p.His934Tyr) c.2620C>T (p.His874Tyr) c.2875C>T (p.His959Tyr) c.2437C>T (p.His813Tyr) c.2737C>T (p.His913Tyr) n.3188C>T | |
| 9 | g.104822524G>C | CA374320155 | ABCA1 | c.2800C>G (p.His934Asp) c.2620C>G (p.His874Asp) c.2875C>G (p.His959Asp) c.2437C>G (p.His813Asp) c.2737C>G (p.His913Asp) n.3188C>G | |
| 9 | g.104822524G>T | CA374320153 | ABCA1 | c.2800C>A (p.His934Asn) c.2620C>A (p.His874Asn) c.2875C>A (p.His959Asn) c.2437C>A (p.His813Asn) c.2737C>A (p.His913Asn) n.3188C>A | |
| 9 | g.104822525G>A | CA5168650 | ABCA1 | c.2799C>T (p.Gly933=) c.2619C>T (p.Gly873=) c.2874C>T (p.Gly958=) c.2436C>T (p.Gly812=) c.2736C>T (p.Gly912=) n.3187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822525G>C | CA466506698 | ABCA1 | c.2799C>G (p.Gly933=) c.2619C>G (p.Gly873=) c.2874C>G (p.Gly958=) c.2436C>G (p.Gly812=) c.2736C>G (p.Gly912=) n.3187C>G | |
| 9 | g.104822525G= | CA1869954000 | ABCA1 | c.2799C= (p.Gly933=) c.2619C= (p.Gly873=) c.2874C= (p.Gly958=) c.2436C= (p.Gly812=) c.2736C= (p.Gly912=) n.3187C= | |
| 9 | g.104822525G>T | CA466506699 | ABCA1 | c.2799C>A (p.Gly933=) c.2619C>A (p.Gly873=) c.2874C>A (p.Gly958=) c.2436C>A (p.Gly812=) c.2736C>A (p.Gly912=) n.3187C>A | |
| 9 | g.104822526C>A | CA374320156 | ABCA1 | c.2798G>T (p.Gly933Val) c.2618G>T (p.Gly873Val) c.2873G>T (p.Gly958Val) c.2435G>T (p.Gly812Val) c.2735G>T (p.Gly912Val) n.3186G>T | |
| 9 | g.104822526C>G | CA374320157 | ABCA1 | c.2798G>C (p.Gly933Ala) c.2618G>C (p.Gly873Ala) c.2873G>C (p.Gly958Ala) c.2435G>C (p.Gly812Ala) c.2735G>C (p.Gly912Ala) n.3186G>C | |
| 9 | g.104822526C>T | CA374320158 | ABCA1 | c.2798G>A (p.Gly933Asp) c.2618G>A (p.Gly873Asp) c.2873G>A (p.Gly958Asp) c.2435G>A (p.Gly812Asp) c.2735G>A (p.Gly912Asp) n.3186G>A | |
| 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 |