| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104822514G>A | CA120482 | ABCA1 | c.2810C>T (p.Ala937Val) c.2630C>T (p.Ala877Val) c.2885C>T (p.Ala962Val) c.2447C>T (p.Ala816Val) c.2747C>T (p.Ala916Val) n.3198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822514G>C | CA374320133 | ABCA1 | c.2810C>G (p.Ala937Gly) c.2630C>G (p.Ala877Gly) c.2885C>G (p.Ala962Gly) c.2447C>G (p.Ala816Gly) c.2747C>G (p.Ala916Gly) n.3198C>G | |
| 9 | g.104822514G= | CA1869953950 | ABCA1 | c.2810C= (p.Ala937=) c.2630C= (p.Ala877=) c.2885C= (p.Ala962=) c.2447C= (p.Ala816=) c.2747C= (p.Ala916=) n.3198C= | |
| 9 | g.104822514G>T | CA374320134 | ABCA1 | c.2810C>A (p.Ala937Glu) c.2630C>A (p.Ala877Glu) c.2885C>A (p.Ala962Glu) c.2447C>A (p.Ala816Glu) c.2747C>A (p.Ala916Glu) n.3198C>A | |
| 9 | g.104822515C>A | CA374320135 | ABCA1 | c.2809G>T (p.Ala937Ser) c.2629G>T (p.Ala877Ser) c.2884G>T (p.Ala962Ser) c.2446G>T (p.Ala816Ser) c.2746G>T (p.Ala916Ser) n.3197G>T | |
| 9 | g.104822515C= | CA1869953958 | ABCA1 | c.2809G= (p.Ala937=) c.2629G= (p.Ala877=) c.2884G= (p.Ala962=) c.2446G= (p.Ala816=) c.2746G= (p.Ala916=) n.3197G= | |
| 9 | g.104822515C>G | CA374320136 | ABCA1 | c.2809G>C (p.Ala937Pro) c.2629G>C (p.Ala877Pro) c.2884G>C (p.Ala962Pro) c.2446G>C (p.Ala816Pro) c.2746G>C (p.Ala916Pro) n.3197G>C | |
| 9 | g.104822515C>T | CA197390208 | ABCA1 | c.2809G>A (p.Ala937Thr) c.2629G>A (p.Ala877Thr) c.2884G>A (p.Ala962Thr) c.2446G>A (p.Ala816Thr) c.2746G>A (p.Ala916Thr) n.3197G>A | dbSNP |
| 9 | g.104822516T>A | CA466506693 | ABCA1 | c.2808A>T (p.Gly936=) c.2628A>T (p.Gly876=) c.2883A>T (p.Gly961=) c.2445A>T (p.Gly815=) c.2745A>T (p.Gly915=) n.3196A>T | |
| 9 | g.104822516T>C | CA466506694 | ABCA1 | c.2808A>G (p.Gly936=) c.2628A>G (p.Gly876=) c.2883A>G (p.Gly961=) c.2445A>G (p.Gly815=) c.2745A>G (p.Gly915=) n.3196A>G | |
| 9 | g.104822516T>G | CA466506695 | ABCA1 | c.2808A>C (p.Gly936=) c.2628A>C (p.Gly876=) c.2883A>C (p.Gly961=) c.2445A>C (p.Gly815=) c.2745A>C (p.Gly915=) n.3196A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822516T= | CA1869953966 | ABCA1 | c.2808A= (p.Gly936=) c.2628A= (p.Gly876=) c.2883A= (p.Gly961=) c.2445A= (p.Gly815=) c.2745A= (p.Gly915=) n.3196A= | |
| 9 | g.104822517C>A | CA374320137 | ABCA1 | c.2807G>T (p.Gly936Val) c.2627G>T (p.Gly876Val) c.2882G>T (p.Gly961Val) c.2444G>T (p.Gly815Val) c.2744G>T (p.Gly915Val) n.3195G>T | |
| 9 | g.104822517C>G | CA374320138 | ABCA1 | c.2807G>C (p.Gly936Ala) c.2627G>C (p.Gly876Ala) c.2882G>C (p.Gly961Ala) c.2444G>C (p.Gly815Ala) c.2744G>C (p.Gly915Ala) n.3195G>C | |
| 9 | g.104822517C>T | CA374320139 | ABCA1 | c.2807G>A (p.Gly936Glu) c.2627G>A (p.Gly876Glu) c.2882G>A (p.Gly961Glu) c.2444G>A (p.Gly815Glu) c.2744G>A (p.Gly915Glu) n.3195G>A | |
| 9 | g.104822518C>A | CA374320142 | ABCA1 | c.2806G>T (p.Gly936Ter) c.2626G>T (p.Gly876Ter) c.2881G>T (p.Gly961Ter) c.2443G>T (p.Gly815Ter) c.2743G>T (p.Gly915Ter) n.3194G>T | |
| 9 | g.104822518C>G | CA374320141 | ABCA1 | c.2806G>C (p.Gly936Arg) c.2626G>C (p.Gly876Arg) c.2881G>C (p.Gly961Arg) c.2443G>C (p.Gly815Arg) c.2743G>C (p.Gly915Arg) n.3194G>C | |
| 9 | g.104822518C>T | CA374320140 | ABCA1 | c.2806G>A (p.Gly936Arg) c.2626G>A (p.Gly876Arg) c.2881G>A (p.Gly961Arg) c.2443G>A (p.Gly815Arg) c.2743G>A (p.Gly915Arg) n.3194G>A | |
| 9 | g.104822519A>C | CA374320143 | ABCA1 | c.2805T>G (p.Asn935Lys) c.2625T>G (p.Asn875Lys) c.2880T>G (p.Asn960Lys) c.2442T>G (p.Asn814Lys) c.2742T>G (p.Asn914Lys) n.3193T>G | |
| 9 | g.104822519A>G | CA466506696 | ABCA1 | c.2805T>C (p.Asn935=) c.2625T>C (p.Asn875=) c.2880T>C (p.Asn960=) c.2442T>C (p.Asn814=) c.2742T>C (p.Asn914=) n.3193T>C | gnomAD v4 |
| 9 | g.104822519A>T | CA374320144 | ABCA1 | c.2805T>A (p.Asn935Lys) c.2625T>A (p.Asn875Lys) c.2880T>A (p.Asn960Lys) c.2442T>A (p.Asn814Lys) c.2742T>A (p.Asn914Lys) n.3193T>A | |
| 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 |