Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104822527C>ACA374320159ABCA1c.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
9g.104822527C>GCA374320160ABCA1c.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
9g.104822527C>TCA374320161ABCA1c.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
9g.104822528C>ACA466506700ABCA1c.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
9g.104822528C>GCA466506701ABCA1c.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
9g.104822528C>TCA466506702ABCA1c.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
9g.104822529A>CCA374320162ABCA1c.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
9g.104822529A>GCA374320164ABCA1c.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
9g.104822529A>TCA374320163ABCA1c.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
9g.104822530G>ACA466506703ABCA1c.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
9g.104822530G>CCA374320165ABCA1c.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
9g.104822530G=CA1869954002ABCA1c.2794C= (p.Leu932=)
c.2614C= (p.Leu872=)
c.2869C= (p.Leu957=)
c.2431C= (p.Leu811=)
c.2731C= (p.Leu911=)
n.3182C=
9g.104822530G>TCA374320166ABCA1c.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
9g.104822531G>ACA466506704ABCA1c.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
9g.104822531G>CCA374320167ABCA1c.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
9g.104822531G>TCA374320168ABCA1c.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
9g.104822532A>CCA374320171ABCA1c.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
9g.104822532A>GCA374320169ABCA1c.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
9g.104822532A>TCA374320170ABCA1c.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
9g.104822533A>CCA374320172ABCA1c.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
9g.104822533A>GCA374320173ABCA1c.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
9g.104822533A>TCA374320174ABCA1c.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
9g.104822534G>ACA466506705ABCA1c.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
9g.104822534G>CCA466506706ABCA1c.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
9g.104822534G>TCA466506707ABCA1c.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
9g.104822535G>ACA374320175ABCA1c.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
9g.104822535G>CCA374320176ABCA1c.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
9g.104822535G=CA1869954004ABCA1c.2789C= (p.Ser930=)
c.2609C= (p.Ser870=)
c.2864C= (p.Ser955=)
c.2426C= (p.Ser809=)
c.2726C= (p.Ser909=)
n.3177C=
9g.104822535G>TCA374320177ABCA1c.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
9g.104822536A=CA1869954006ABCA1c.2788T= (p.Ser930=)
c.2608T= (p.Ser870=)
c.2863T= (p.Ser955=)
c.2425T= (p.Ser809=)
c.2725T= (p.Ser909=)
n.3176T=
9g.104822536A>CCA374320178ABCA1c.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
9g.104822536A>GCA374320179ABCA1c.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
9g.104822536A>TCA374320180ABCA1c.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
9g.104822537G>ACA466506708ABCA1c.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
9g.104822537G>CCA466506709ABCA1c.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
9g.104822537G=CA1869954009ABCA1c.2787C= (p.Thr929=)
c.2607C= (p.Thr869=)
c.2862C= (p.Thr954=)
c.2424C= (p.Thr808=)
c.2724C= (p.Thr908=)
n.3175C=
9g.104822537G>TCA466506710ABCA1c.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
9g.104822538G>ACA374320181ABCA1c.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
9g.104822538G>CCA374320182ABCA1c.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
9g.104822538G=CA1869954011ABCA1c.2786C= (p.Thr929=)
c.2606C= (p.Thr869=)
c.2861C= (p.Thr954=)
c.2423C= (p.Thr808=)
c.2723C= (p.Thr908=)
n.3174C=
9g.104822538G>TCA374320183ABCA1c.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
9g.104822539T>ACA374320184ABCA1c.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
9g.104822539T>CCA374320186ABCA1c.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
9g.104822539T>GCA374320185ABCA1c.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
9g.104822539T=CA1869954013ABCA1c.2785A= (p.Thr929=)
c.2605A= (p.Thr869=)
c.2860A= (p.Thr954=)
c.2422A= (p.Thr808=)
c.2722A= (p.Thr908=)
n.3173A=
9g.104822540G>ACA466506711ABCA1c.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
9g.104822540G>CCA374320187ABCA1c.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
9g.104822540G>TCA466506712ABCA1c.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
9g.104822541A>CCA374320188ABCA1c.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
9g.104822541A>GCA374320189ABCA1c.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

Number of alleles fetched