| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104822482_104822488dup | CA858085820 | ABCA1 | c.2828+8_2828+14dup (n.2828+8_2828+14dup) c.2648+8_2648+14dup (n.2648+8_2648+14dup) c.2903+8_2903+14dup (n.2903+8_2903+14dup) c.2465+8_2465+14dup (n.2465+8_2465+14dup) c.2765+8_2765+14dup (n.2765+8_2765+14dup) n.3216+8_3216+14dup | dbSNP |
| 9 | g.104822488C= | CA1869953900 | ABCA1 | c.2828+8G= (n.2828+8G=) c.2648+8G= (n.2648+8G=) c.2903+8G= (n.2903+8G=) c.2465+8G= (n.2465+8G=) c.2765+8G= (n.2765+8G=) n.3216+8G= | |
| 9 | g.104822488C>G | CA5168646 | ABCA1 | c.2828+8G>C (n.2828+8G>C) c.2648+8G>C (n.2648+8G>C) c.2903+8G>C (n.2903+8G>C) c.2465+8G>C (n.2465+8G>C) c.2765+8G>C (n.2765+8G>C) n.3216+8G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104822490T>A | CA197390195 | ABCA1 | c.2828+6A>T (n.2828+6A>T) c.2648+6A>T (n.2648+6A>T) c.2903+6A>T (n.2903+6A>T) c.2465+6A>T (n.2465+6A>T) c.2765+6A>T (n.2765+6A>T) n.3216+6A>T | dbSNP |
| 9 | g.104822490T= | CA1869953902 | ABCA1 | c.2828+6A= (n.2828+6A=) c.2648+6A= (n.2648+6A=) c.2903+6A= (n.2903+6A=) c.2465+6A= (n.2465+6A=) c.2765+6A= (n.2765+6A=) n.3216+6A= | |
| 9 | g.104822494A>C | CA374320089 | ABCA1 | c.2828+2T>G (n.2828+2T>G) c.2648+2T>G (n.2648+2T>G) c.2903+2T>G (n.2903+2T>G) c.2465+2T>G (n.2465+2T>G) c.2765+2T>G (n.2765+2T>G) n.3216+2T>G | |
| 9 | g.104822494A>G | CA374320090 | ABCA1 | c.2828+2T>C (n.2828+2T>C) c.2648+2T>C (n.2648+2T>C) c.2903+2T>C (n.2903+2T>C) c.2465+2T>C (n.2465+2T>C) c.2765+2T>C (n.2765+2T>C) n.3216+2T>C | |
| 9 | g.104822494A>T | CA374320091 | ABCA1 | c.2828+2T>A (n.2828+2T>A) c.2648+2T>A (n.2648+2T>A) c.2903+2T>A (n.2903+2T>A) c.2465+2T>A (n.2465+2T>A) c.2765+2T>A (n.2765+2T>A) n.3216+2T>A | |
| 9 | g.104822495C>A | CA374320092 | ABCA1 | c.2828+1G>T (n.2828+1G>T) c.2648+1G>T (n.2648+1G>T) c.2903+1G>T (n.2903+1G>T) c.2465+1G>T (n.2465+1G>T) c.2765+1G>T (n.2765+1G>T) n.3216+1G>T | |
| 9 | g.104822495C= | CA1869953905 | ABCA1 | c.2828+1G= (n.2828+1G=) c.2648+1G= (n.2648+1G=) c.2903+1G= (n.2903+1G=) c.2465+1G= (n.2465+1G=) c.2765+1G= (n.2765+1G=) n.3216+1G= | |
| 9 | g.104822495C>G | CA374320093 | ABCA1 | c.2828+1G>C (n.2828+1G>C) c.2648+1G>C (n.2648+1G>C) c.2903+1G>C (n.2903+1G>C) c.2465+1G>C (n.2465+1G>C) c.2765+1G>C (n.2765+1G>C) n.3216+1G>C | |
| 9 | g.104822495C>T | CA374320094 | ABCA1 | c.2828+1G>A (n.2828+1G>A) c.2648+1G>A (n.2648+1G>A) c.2903+1G>A (n.2903+1G>A) c.2465+1G>A (n.2465+1G>A) c.2765+1G>A (n.2765+1G>A) n.3216+1G>A | dbSNP |
| 9 | g.104822496A>C | CA374320095 | ABCA1 | c.2828T>G (p.Met943Arg) c.2648T>G (p.Met883Arg) c.2903T>G (p.Met968Arg) c.2465T>G (p.Met822Arg) c.2765T>G (p.Met922Arg) n.3216T>G | |
| 9 | g.104822496A>G | CA374320096 | ABCA1 | c.2828T>C (p.Met943Thr) c.2648T>C (p.Met883Thr) c.2903T>C (p.Met968Thr) c.2465T>C (p.Met822Thr) c.2765T>C (p.Met922Thr) n.3216T>C | COSMIC |
| 9 | g.104822496A>T | CA374320097 | ABCA1 | c.2828T>A (p.Met943Lys) c.2648T>A (p.Met883Lys) c.2903T>A (p.Met968Lys) c.2465T>A (p.Met822Lys) c.2765T>A (p.Met922Lys) n.3216T>A | |
| 9 | g.104822497T>A | CA374320098 | ABCA1 | c.2827A>T (p.Met943Leu) c.2647A>T (p.Met883Leu) c.2902A>T (p.Met968Leu) c.2464A>T (p.Met822Leu) c.2764A>T (p.Met922Leu) n.3215A>T | |
| 9 | g.104822497T>C | CA374320100 | ABCA1 | c.2827A>G (p.Met943Val) c.2647A>G (p.Met883Val) c.2902A>G (p.Met968Val) c.2464A>G (p.Met822Val) c.2764A>G (p.Met922Val) n.3215A>G | gnomAD v4 |
| 9 | g.104822497T>G | CA374320099 | ABCA1 | c.2827A>C (p.Met943Leu) c.2647A>C (p.Met883Leu) c.2902A>C (p.Met968Leu) c.2464A>C (p.Met822Leu) c.2764A>C (p.Met922Leu) n.3215A>C | |
| 9 | g.104822498G>A | CA466506680 | ABCA1 | c.2826C>T (p.Thr942=) c.2646C>T (p.Thr882=) c.2901C>T (p.Thr967=) c.2463C>T (p.Thr821=) c.2763C>T (p.Thr921=) n.3214C>T | |
| 9 | g.104822498G>C | CA466506681 | ABCA1 | c.2826C>G (p.Thr942=) c.2646C>G (p.Thr882=) c.2901C>G (p.Thr967=) c.2463C>G (p.Thr821=) c.2763C>G (p.Thr921=) n.3214C>G | |
| 9 | g.104822498G>T | CA466506682 | ABCA1 | c.2826C>A (p.Thr942=) c.2646C>A (p.Thr882=) c.2901C>A (p.Thr967=) c.2463C>A (p.Thr821=) c.2763C>A (p.Thr921=) n.3214C>A | |
| 9 | g.104822499G>A | CA374320101 | ABCA1 | c.2825C>T (p.Thr942Ile) c.2645C>T (p.Thr882Ile) c.2900C>T (p.Thr967Ile) c.2462C>T (p.Thr821Ile) c.2762C>T (p.Thr921Ile) n.3213C>T | gnomAD v4 |
| 9 | g.104822499G>C | CA374320103 | ABCA1 | c.2825C>G (p.Thr942Ser) c.2645C>G (p.Thr882Ser) c.2900C>G (p.Thr967Ser) c.2462C>G (p.Thr821Ser) c.2762C>G (p.Thr921Ser) n.3213C>G | |
| 9 | g.104822499G>T | CA374320102 | ABCA1 | c.2825C>A (p.Thr942Asn) c.2645C>A (p.Thr882Asn) c.2900C>A (p.Thr967Asn) c.2462C>A (p.Thr821Asn) c.2762C>A (p.Thr921Asn) n.3213C>A | |
| 9 | g.104822500T>A | CA374320104 | ABCA1 | c.2824A>T (p.Thr942Ser) c.2644A>T (p.Thr882Ser) c.2899A>T (p.Thr967Ser) c.2461A>T (p.Thr821Ser) c.2761A>T (p.Thr921Ser) n.3212A>T | |
| 9 | g.104822500T>C | CA374320105 | ABCA1 | c.2824A>G (p.Thr942Ala) c.2644A>G (p.Thr882Ala) c.2899A>G (p.Thr967Ala) c.2461A>G (p.Thr821Ala) c.2761A>G (p.Thr921Ala) n.3212A>G | |
| 9 | g.104822500T>G | CA374320106 | ABCA1 | c.2824A>C (p.Thr942Pro) c.2644A>C (p.Thr882Pro) c.2899A>C (p.Thr967Pro) c.2461A>C (p.Thr821Pro) c.2761A>C (p.Thr921Pro) n.3212A>C | |
| 9 | g.104822501G>A | CA466506683 | ABCA1 | c.2823C>T (p.Thr941=) c.2643C>T (p.Thr881=) c.2898C>T (p.Thr966=) c.2460C>T (p.Thr820=) c.2760C>T (p.Thr920=) n.3211C>T | ClinVar gnomAD v4 |
| 9 | g.104822501G>C | CA466506684 | ABCA1 | c.2823C>G (p.Thr941=) c.2643C>G (p.Thr881=) c.2898C>G (p.Thr966=) c.2460C>G (p.Thr820=) c.2760C>G (p.Thr920=) n.3211C>G | |
| 9 | g.104822501G>T | CA466506685 | ABCA1 | c.2823C>A (p.Thr941=) c.2643C>A (p.Thr881=) c.2898C>A (p.Thr966=) c.2460C>A (p.Thr820=) c.2760C>A (p.Thr920=) n.3211C>A | |
| 9 | g.104822502G>A | CA374320107 | ABCA1 | c.2822C>T (p.Thr941Ile) c.2642C>T (p.Thr881Ile) c.2897C>T (p.Thr966Ile) c.2459C>T (p.Thr820Ile) c.2759C>T (p.Thr920Ile) n.3210C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104822502G>C | CA374320108 | ABCA1 | c.2822C>G (p.Thr941Ser) c.2642C>G (p.Thr881Ser) c.2897C>G (p.Thr966Ser) c.2459C>G (p.Thr820Ser) c.2759C>G (p.Thr920Ser) n.3210C>G | |
| 9 | g.104822502G= | CA1869953909 | ABCA1 | c.2822C= (p.Thr941=) c.2642C= (p.Thr881=) c.2897C= (p.Thr966=) c.2459C= (p.Thr820=) c.2759C= (p.Thr920=) n.3210C= | |
| 9 | g.104822502G>T | CA374320109 | ABCA1 | c.2822C>A (p.Thr941Asn) c.2642C>A (p.Thr881Asn) c.2897C>A (p.Thr966Asn) c.2459C>A (p.Thr820Asn) c.2759C>A (p.Thr920Asn) n.3210C>A | gnomAD v4 |
| 9 | g.104822503T>A | CA374320110 | ABCA1 | c.2821A>T (p.Thr941Ser) c.2641A>T (p.Thr881Ser) c.2896A>T (p.Thr966Ser) c.2458A>T (p.Thr820Ser) c.2758A>T (p.Thr920Ser) n.3209A>T | |
| 9 | g.104822503T>C | CA374320111 | ABCA1 | c.2821A>G (p.Thr941Ala) c.2641A>G (p.Thr881Ala) c.2896A>G (p.Thr966Ala) c.2458A>G (p.Thr820Ala) c.2758A>G (p.Thr920Ala) n.3209A>G | |
| 9 | g.104822503T>G | CA374320112 | ABCA1 | c.2821A>C (p.Thr941Pro) c.2641A>C (p.Thr881Pro) c.2896A>C (p.Thr966Pro) c.2458A>C (p.Thr820Pro) c.2758A>C (p.Thr920Pro) n.3209A>C | |
| 9 | g.104822504C>A | CA466506687 | ABCA1 | c.2820G>T (p.Thr940=) c.2640G>T (p.Thr880=) c.2895G>T (p.Thr965=) c.2457G>T (p.Thr819=) c.2757G>T (p.Thr919=) n.3208G>T | ClinVar gnomAD v4 |
| 9 | g.104822504C= | CA1869953913 | ABCA1 | c.2820G= (p.Thr940=) c.2640G= (p.Thr880=) c.2895G= (p.Thr965=) c.2457G= (p.Thr819=) c.2757G= (p.Thr919=) n.3208G= | |
| 9 | g.104822504C>G | CA466506686 | ABCA1 | c.2820G>C (p.Thr940=) c.2640G>C (p.Thr880=) c.2895G>C (p.Thr965=) c.2457G>C (p.Thr819=) c.2757G>C (p.Thr919=) n.3208G>C | |
| 9 | g.104822504C>T | CA5168647 | ABCA1 | c.2820G>A (p.Thr940=) c.2640G>A (p.Thr880=) c.2895G>A (p.Thr965=) c.2457G>A (p.Thr819=) c.2757G>A (p.Thr919=) n.3208G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822505G>A | CA374320115 | ABCA1 | c.2819C>T (p.Thr940Met) c.2639C>T (p.Thr880Met) c.2894C>T (p.Thr965Met) c.2456C>T (p.Thr819Met) c.2756C>T (p.Thr919Met) n.3207C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.104822505G>C | CA374320114 | ABCA1 | c.2819C>G (p.Thr940Arg) c.2639C>G (p.Thr880Arg) c.2894C>G (p.Thr965Arg) c.2456C>G (p.Thr819Arg) c.2756C>G (p.Thr919Arg) n.3207C>G | |
| 9 | g.104822505G= | CA1869953914 | ABCA1 | c.2819C= (p.Thr940=) c.2639C= (p.Thr880=) c.2894C= (p.Thr965=) c.2456C= (p.Thr819=) c.2756C= (p.Thr919=) n.3207C= | |
| 9 | g.104822505G>T | CA374320113 | ABCA1 | c.2819C>A (p.Thr940Lys) c.2639C>A (p.Thr880Lys) c.2894C>A (p.Thr965Lys) c.2456C>A (p.Thr819Lys) c.2756C>A (p.Thr919Lys) n.3207C>A | |
| 9 | g.104822506T>A | CA374320116 | ABCA1 | c.2818A>T (p.Thr940Ser) c.2638A>T (p.Thr880Ser) c.2893A>T (p.Thr965Ser) c.2455A>T (p.Thr819Ser) c.2755A>T (p.Thr919Ser) n.3206A>T | |
| 9 | g.104822506T>C | CA374320117 | ABCA1 | c.2818A>G (p.Thr940Ala) c.2638A>G (p.Thr880Ala) c.2893A>G (p.Thr965Ala) c.2455A>G (p.Thr819Ala) c.2755A>G (p.Thr919Ala) n.3206A>G | |
| 9 | g.104822506T>G | CA374320118 | ABCA1 | c.2818A>C (p.Thr940Pro) c.2638A>C (p.Thr880Pro) c.2893A>C (p.Thr965Pro) c.2455A>C (p.Thr819Pro) c.2755A>C (p.Thr919Pro) n.3206A>C | |
| 9 | g.104822507C>A | CA374320119 | ABCA1 | c.2817G>T (p.Lys939Asn) c.2637G>T (p.Lys879Asn) c.2892G>T (p.Lys964Asn) c.2454G>T (p.Lys818Asn) c.2754G>T (p.Lys918Asn) n.3205G>T | |
| 9 | g.104822507C>G | CA374320120 | ABCA1 | c.2817G>C (p.Lys939Asn) c.2637G>C (p.Lys879Asn) c.2892G>C (p.Lys964Asn) c.2454G>C (p.Lys818Asn) c.2754G>C (p.Lys918Asn) n.3205G>C | |
| 9 | g.104822507C>T | CA466506688 | ABCA1 | c.2817G>A (p.Lys939=) c.2637G>A (p.Lys879=) c.2892G>A (p.Lys964=) c.2454G>A (p.Lys818=) c.2754G>A (p.Lys918=) n.3205G>A | |
| 9 | g.104822508T>A | CA374320121 | ABCA1 | c.2816A>T (p.Lys939Met) c.2636A>T (p.Lys879Met) c.2891A>T (p.Lys964Met) c.2453A>T (p.Lys818Met) c.2753A>T (p.Lys918Met) n.3204A>T | |
| 9 | g.104822508T>C | CA374320122 | ABCA1 | c.2816A>G (p.Lys939Arg) c.2636A>G (p.Lys879Arg) c.2891A>G (p.Lys964Arg) c.2453A>G (p.Lys818Arg) c.2753A>G (p.Lys918Arg) n.3204A>G | |
| 9 | g.104822508T>G | CA374320123 | ABCA1 | c.2816A>C (p.Lys939Thr) c.2636A>C (p.Lys879Thr) c.2891A>C (p.Lys964Thr) c.2453A>C (p.Lys818Thr) c.2753A>C (p.Lys918Thr) n.3204A>C | |
| 9 | g.104822509T>A | CA374320124 | ABCA1 | c.2815A>T (p.Lys939Ter) c.2635A>T (p.Lys879Ter) c.2890A>T (p.Lys964Ter) c.2452A>T (p.Lys818Ter) c.2752A>T (p.Lys918Ter) n.3203A>T | |
| 9 | g.104822509T>C | CA374320125 | ABCA1 | c.2815A>G (p.Lys939Glu) c.2635A>G (p.Lys879Glu) c.2890A>G (p.Lys964Glu) c.2452A>G (p.Lys818Glu) c.2752A>G (p.Lys918Glu) n.3203A>G | |
| 9 | g.104822509T>G | CA374320126 | ABCA1 | c.2815A>C (p.Lys939Gln) c.2635A>C (p.Lys879Gln) c.2890A>C (p.Lys964Gln) c.2452A>C (p.Lys818Gln) c.2752A>C (p.Lys918Gln) n.3203A>C | |
| 9 | g.104822510C>A | CA466506690 | ABCA1 | c.2814G>T (p.Gly938=) c.2634G>T (p.Gly878=) c.2889G>T (p.Gly963=) c.2451G>T (p.Gly817=) c.2751G>T (p.Gly917=) n.3202G>T | COSMIC |
| 9 | g.104822510C= | CA1869953921 | ABCA1 | c.2814G= (p.Gly938=) c.2634G= (p.Gly878=) c.2889G= (p.Gly963=) c.2451G= (p.Gly817=) c.2751G= (p.Gly917=) n.3202G= | |
| 9 | g.104822510C>G | CA466506689 | ABCA1 | c.2814G>C (p.Gly938=) c.2634G>C (p.Gly878=) c.2889G>C (p.Gly963=) c.2451G>C (p.Gly817=) c.2751G>C (p.Gly917=) n.3202G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104822510C>T | CA5168648 | ABCA1 | c.2814G>A (p.Gly938=) c.2634G>A (p.Gly878=) c.2889G>A (p.Gly963=) c.2451G>A (p.Gly817=) c.2751G>A (p.Gly917=) n.3202G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822511C>A | CA374320129 | ABCA1 | c.2813G>T (p.Gly938Val) c.2633G>T (p.Gly878Val) c.2888G>T (p.Gly963Val) c.2450G>T (p.Gly817Val) c.2750G>T (p.Gly917Val) n.3201G>T | |
| 9 | g.104822511C>G | CA374320128 | ABCA1 | c.2813G>C (p.Gly938Ala) c.2633G>C (p.Gly878Ala) c.2888G>C (p.Gly963Ala) c.2450G>C (p.Gly817Ala) c.2750G>C (p.Gly917Ala) n.3201G>C | |
| 9 | g.104822511C>T | CA374320127 | ABCA1 | c.2813G>A (p.Gly938Glu) c.2633G>A (p.Gly878Glu) c.2888G>A (p.Gly963Glu) c.2450G>A (p.Gly817Glu) c.2750G>A (p.Gly917Glu) n.3201G>A | |
| 9 | g.104822512C>A | CA374320132 | ABCA1 | c.2812G>T (p.Gly938Trp) c.2632G>T (p.Gly878Trp) c.2887G>T (p.Gly963Trp) c.2449G>T (p.Gly817Trp) c.2749G>T (p.Gly917Trp) n.3200G>T | COSMIC |
| 9 | g.104822512C= | CA1869953935 | ABCA1 | c.2812G= (p.Gly938=) c.2632G= (p.Gly878=) c.2887G= (p.Gly963=) c.2449G= (p.Gly817=) c.2749G= (p.Gly917=) n.3200G= | |
| 9 | g.104822512C>G | CA374320130 | ABCA1 | c.2812G>C (p.Gly938Arg) c.2632G>C (p.Gly878Arg) c.2887G>C (p.Gly963Arg) c.2449G>C (p.Gly817Arg) c.2749G>C (p.Gly917Arg) n.3200G>C | |
| 9 | g.104822512C>T | CA374320131 | ABCA1 | c.2812G>A (p.Gly938Arg) c.2632G>A (p.Gly878Arg) c.2887G>A (p.Gly963Arg) c.2449G>A (p.Gly817Arg) c.2749G>A (p.Gly917Arg) n.3200G>A | dbSNP |
| 9 | g.104822513C>A | CA466506691 | ABCA1 | c.2811G>T (p.Ala937=) c.2631G>T (p.Ala877=) c.2886G>T (p.Ala962=) c.2448G>T (p.Ala816=) c.2748G>T (p.Ala916=) n.3199G>T | |
| 9 | g.104822513C= | CA1869953940 | ABCA1 | c.2811G= (p.Ala937=) c.2631G= (p.Ala877=) c.2886G= (p.Ala962=) c.2448G= (p.Ala816=) c.2748G= (p.Ala916=) n.3199G= | |
| 9 | g.104822513C>G | CA466506692 | ABCA1 | c.2811G>C (p.Ala937=) c.2631G>C (p.Ala877=) c.2886G>C (p.Ala962=) c.2448G>C (p.Ala816=) c.2748G>C (p.Ala916=) n.3199G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104822513C>T | CA5168649 | ABCA1 | c.2811G>A (p.Ala937=) c.2631G>A (p.Ala877=) c.2886G>A (p.Ala962=) c.2448G>A (p.Ala816=) c.2748G>A (p.Ala916=) n.3199G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 | |
| 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 | |
| 9 | g.104822541A>T | CA374320190 | ABCA1 | c.2783T>A (p.Ile928Asn) c.2603T>A (p.Ile868Asn) c.2858T>A (p.Ile953Asn) c.2420T>A (p.Ile807Asn) c.2720T>A (p.Ile907Asn) n.3171T>A | |
| 9 | g.104822542T>A | CA374320191 | ABCA1 | c.2782A>T (p.Ile928Phe) c.2602A>T (p.Ile868Phe) c.2857A>T (p.Ile953Phe) c.2419A>T (p.Ile807Phe) c.2719A>T (p.Ile907Phe) n.3170A>T | |
| 9 | g.104822542T>C | CA374320192 | ABCA1 | c.2782A>G (p.Ile928Val) c.2602A>G (p.Ile868Val) c.2857A>G (p.Ile953Val) c.2419A>G (p.Ile807Val) c.2719A>G (p.Ile907Val) n.3170A>G | gnomAD v4 |
| 9 | g.104822542T>G | CA374320193 | ABCA1 | c.2782A>C (p.Ile928Leu) c.2602A>C (p.Ile868Leu) c.2857A>C (p.Ile953Leu) c.2419A>C (p.Ile807Leu) c.2719A>C (p.Ile907Leu) n.3170A>C | |
| 9 | g.104822543C>A | CA374320194 | ABCA1 | c.2781G>T (p.Gln927His) c.2601G>T (p.Gln867His) c.2856G>T (p.Gln952His) c.2418G>T (p.Gln806His) c.2718G>T (p.Gln906His) n.3169G>T | |
| 9 | g.104822543C>G | CA374320195 | ABCA1 | c.2781G>C (p.Gln927His) c.2601G>C (p.Gln867His) c.2856G>C (p.Gln952His) c.2418G>C (p.Gln806His) c.2718G>C (p.Gln906His) n.3169G>C | |
| 9 | g.104822543C>T | CA466506713 | ABCA1 | c.2781G>A (p.Gln927=) c.2601G>A (p.Gln867=) c.2856G>A (p.Gln952=) c.2418G>A (p.Gln806=) c.2718G>A (p.Gln906=) n.3169G>A | |
| 9 | g.104822544T>A | CA374320196 | ABCA1 | c.2780A>T (p.Gln927Leu) c.2600A>T (p.Gln867Leu) c.2855A>T (p.Gln952Leu) c.2417A>T (p.Gln806Leu) c.2717A>T (p.Gln906Leu) n.3168A>T | |
| 9 | g.104822544T>C | CA374320197 | ABCA1 | c.2780A>G (p.Gln927Arg) c.2600A>G (p.Gln867Arg) c.2855A>G (p.Gln952Arg) c.2417A>G (p.Gln806Arg) c.2717A>G (p.Gln906Arg) n.3168A>G | |
| 9 | g.104822544T>G | CA374320198 | ABCA1 | c.2780A>C (p.Gln927Pro) c.2600A>C (p.Gln867Pro) c.2855A>C (p.Gln952Pro) c.2417A>C (p.Gln806Pro) c.2717A>C (p.Gln906Pro) n.3168A>C | |
| 9 | g.104822545G>A | CA374320201 | ABCA1 | c.2779C>T (p.Gln927Ter) c.2599C>T (p.Gln867Ter) c.2854C>T (p.Gln952Ter) c.2416C>T (p.Gln806Ter) c.2716C>T (p.Gln906Ter) n.3167C>T | |
| 9 | g.104822545G>C | CA374320199 | ABCA1 | c.2779C>G (p.Gln927Glu) c.2599C>G (p.Gln867Glu) c.2854C>G (p.Gln952Glu) c.2416C>G (p.Gln806Glu) c.2716C>G (p.Gln906Glu) n.3167C>G | |
| 9 | g.104822545G>T | CA374320200 | ABCA1 | c.2779C>A (p.Gln927Lys) c.2599C>A (p.Gln867Lys) c.2854C>A (p.Gln952Lys) c.2416C>A (p.Gln806Lys) c.2716C>A (p.Gln906Lys) n.3167C>A | |
| 9 | g.104822546G>A | CA466506716 | ABCA1 | c.2778C>T (p.Gly926=) c.2598C>T (p.Gly866=) c.2853C>T (p.Gly951=) c.2415C>T (p.Gly805=) c.2715C>T (p.Gly905=) n.3166C>T | gnomAD v4 |
| 9 | g.104822546G>C | CA466506715 | ABCA1 | c.2778C>G (p.Gly926=) c.2598C>G (p.Gly866=) c.2853C>G (p.Gly951=) c.2415C>G (p.Gly805=) c.2715C>G (p.Gly905=) n.3166C>G | dbSNP |
| 9 | g.104822546G= | CA1869954017 | ABCA1 | c.2778C= (p.Gly926=) c.2598C= (p.Gly866=) c.2853C= (p.Gly951=) c.2415C= (p.Gly805=) c.2715C= (p.Gly905=) n.3166C= | |
| 9 | g.104822546G>T | CA466506714 | ABCA1 | c.2778C>A (p.Gly926=) c.2598C>A (p.Gly866=) c.2853C>A (p.Gly951=) c.2415C>A (p.Gly805=) c.2715C>A (p.Gly905=) n.3166C>A | |
| 9 | g.104822547C>A | CA374320202 | ABCA1 | c.2777G>T (p.Gly926Val) c.2597G>T (p.Gly866Val) c.2852G>T (p.Gly951Val) c.2414G>T (p.Gly805Val) c.2714G>T (p.Gly905Val) n.3165G>T | |
| 9 | g.104822547C>G | CA374320203 | ABCA1 | c.2777G>C (p.Gly926Ala) c.2597G>C (p.Gly866Ala) c.2852G>C (p.Gly951Ala) c.2414G>C (p.Gly805Ala) c.2714G>C (p.Gly905Ala) n.3165G>C | |
| 9 | g.104822547C>T | CA374320204 | ABCA1 | c.2777G>A (p.Gly926Asp) c.2597G>A (p.Gly866Asp) c.2852G>A (p.Gly951Asp) c.2414G>A (p.Gly805Asp) c.2714G>A (p.Gly905Asp) n.3165G>A | |
| 9 | g.104822548C>A | CA374320205 | ABCA1 | c.2776G>T (p.Gly926Cys) c.2596G>T (p.Gly866Cys) c.2851G>T (p.Gly951Cys) c.2413G>T (p.Gly805Cys) c.2713G>T (p.Gly905Cys) n.3164G>T | |
| 9 | g.104822548C>G | CA374320206 | ABCA1 | c.2776G>C (p.Gly926Arg) c.2596G>C (p.Gly866Arg) c.2851G>C (p.Gly951Arg) c.2413G>C (p.Gly805Arg) c.2713G>C (p.Gly905Arg) n.3164G>C | |
| 9 | g.104822548C>T | CA374320207 | ABCA1 | c.2776G>A (p.Gly926Ser) c.2596G>A (p.Gly866Ser) c.2851G>A (p.Gly951Ser) c.2413G>A (p.Gly805Ser) c.2713G>A (p.Gly905Ser) n.3164G>A | |
| 9 | g.104822549C>A | CA374320208 | ABCA1 | c.2775G>T (p.Glu925Asp) c.2595G>T (p.Glu865Asp) c.2850G>T (p.Glu950Asp) c.2412G>T (p.Glu804Asp) c.2712G>T (p.Glu904Asp) n.3163G>T | |
| 9 | g.104822549C= | CA1869954021 | ABCA1 | c.2775G= (p.Glu925=) c.2595G= (p.Glu865=) c.2850G= (p.Glu950=) c.2412G= (p.Glu804=) c.2712G= (p.Glu904=) n.3163G= | |
| 9 | g.104822549C>G | CA374320209 | ABCA1 | c.2775G>C (p.Glu925Asp) c.2595G>C (p.Glu865Asp) c.2850G>C (p.Glu950Asp) c.2412G>C (p.Glu804Asp) c.2712G>C (p.Glu904Asp) n.3163G>C | dbSNP gnomAD v4 |
| 9 | g.104822549C>T | CA466506717 | ABCA1 | c.2775G>A (p.Glu925=) c.2595G>A (p.Glu865=) c.2850G>A (p.Glu950=) c.2412G>A (p.Glu804=) c.2712G>A (p.Glu904=) n.3163G>A | |
| 9 | g.104822550T>A | CA374320210 | ABCA1 | c.2774A>T (p.Glu925Val) c.2594A>T (p.Glu865Val) c.2849A>T (p.Glu950Val) c.2411A>T (p.Glu804Val) c.2711A>T (p.Glu904Val) n.3162A>T | |
| 9 | g.104822550T>C | CA374320211 | ABCA1 | c.2774A>G (p.Glu925Gly) c.2594A>G (p.Glu865Gly) c.2849A>G (p.Glu950Gly) c.2411A>G (p.Glu804Gly) c.2711A>G (p.Glu904Gly) n.3162A>G | |
| 9 | g.104822550T>G | CA374320212 | ABCA1 | c.2774A>C (p.Glu925Ala) c.2594A>C (p.Glu865Ala) c.2849A>C (p.Glu950Ala) c.2411A>C (p.Glu804Ala) c.2711A>C (p.Glu904Ala) n.3162A>C | |
| 9 | g.104822551C>A | CA374320214 | ABCA1 | c.2773G>T (p.Glu925Ter) c.2593G>T (p.Glu865Ter) c.2848G>T (p.Glu950Ter) c.2410G>T (p.Glu804Ter) c.2710G>T (p.Glu904Ter) n.3161G>T | |
| 9 | g.104822551C>G | CA374320215 | ABCA1 | c.2773G>C (p.Glu925Gln) c.2593G>C (p.Glu865Gln) c.2848G>C (p.Glu950Gln) c.2410G>C (p.Glu804Gln) c.2710G>C (p.Glu904Gln) n.3161G>C | |
| 9 | g.104822551C>T | CA374320213 | ABCA1 | c.2773G>A (p.Glu925Lys) c.2593G>A (p.Glu865Lys) c.2848G>A (p.Glu950Lys) c.2410G>A (p.Glu804Lys) c.2710G>A (p.Glu904Lys) n.3161G>A | gnomAD v4 |
| 9 | g.104822552A= | CA1869954032 | ABCA1 | c.2772T= (p.Tyr924=) c.2592T= (p.Tyr864=) c.2847T= (p.Tyr949=) c.2409T= (p.Tyr803=) c.2709T= (p.Tyr903=) n.3160T= | |
| 9 | g.104822552A>C | CA374320217 | ABCA1 | c.2772T>G (p.Tyr924Ter) c.2592T>G (p.Tyr864Ter) c.2847T>G (p.Tyr949Ter) c.2409T>G (p.Tyr803Ter) c.2709T>G (p.Tyr903Ter) n.3160T>G | |
| 9 | g.104822552A>G | CA466506718 | ABCA1 | c.2772T>C (p.Tyr924=) c.2592T>C (p.Tyr864=) c.2847T>C (p.Tyr949=) c.2409T>C (p.Tyr803=) c.2709T>C (p.Tyr903=) n.3160T>C | dbSNP |
| 9 | g.104822552A>T | CA374320216 | ABCA1 | c.2772T>A (p.Tyr924Ter) c.2592T>A (p.Tyr864Ter) c.2847T>A (p.Tyr949Ter) c.2409T>A (p.Tyr803Ter) c.2709T>A (p.Tyr903Ter) n.3160T>A | |
| 9 | g.104822553T>A | CA374320220 | ABCA1 | c.2771A>T (p.Tyr924Phe) c.2591A>T (p.Tyr864Phe) c.2846A>T (p.Tyr949Phe) c.2408A>T (p.Tyr803Phe) c.2708A>T (p.Tyr903Phe) n.3159A>T | |
| 9 | g.104822553T>C | CA374320218 | ABCA1 | c.2771A>G (p.Tyr924Cys) c.2591A>G (p.Tyr864Cys) c.2846A>G (p.Tyr949Cys) c.2408A>G (p.Tyr803Cys) c.2708A>G (p.Tyr903Cys) n.3159A>G | |
| 9 | g.104822553T>G | CA374320219 | ABCA1 | c.2771A>C (p.Tyr924Ser) c.2591A>C (p.Tyr864Ser) c.2846A>C (p.Tyr949Ser) c.2408A>C (p.Tyr803Ser) c.2708A>C (p.Tyr903Ser) n.3159A>C | |
| 9 | g.104822554A>C | CA374320221 | ABCA1 | c.2770T>G (p.Tyr924Asp) c.2590T>G (p.Tyr864Asp) c.2845T>G (p.Tyr949Asp) c.2407T>G (p.Tyr803Asp) c.2707T>G (p.Tyr903Asp) n.3158T>G | |
| 9 | g.104822554A>G | CA374320222 | ABCA1 | c.2770T>C (p.Tyr924His) c.2590T>C (p.Tyr864His) c.2845T>C (p.Tyr949His) c.2407T>C (p.Tyr803His) c.2707T>C (p.Tyr903His) n.3158T>C | |
| 9 | g.104822554A>T | CA374320223 | ABCA1 | c.2770T>A (p.Tyr924Asn) c.2590T>A (p.Tyr864Asn) c.2845T>A (p.Tyr949Asn) c.2407T>A (p.Tyr803Asn) c.2707T>A (p.Tyr903Asn) n.3158T>A | |
| 9 | g.104822558del | CA2691055418 | ABCA1 | c.2770del (p.Tyr924MetfsTer23) c.2590del (p.Tyr864MetfsTer23) c.2845del (p.Tyr949MetfsTer23) c.2407del (p.Tyr803MetfsTer23) c.2707del (p.Tyr903MetfsTer23) n.3158del | gnomAD v4 |
| 9 | g.104822555A= | CA1869954034 | ABCA1 | c.2769T= (p.Phe923=) c.2589T= (p.Phe863=) c.2844T= (p.Phe948=) c.2406T= (p.Phe802=) c.2706T= (p.Phe902=) n.3157T= | |
| 9 | g.104822555A>C | CA374320224 | ABCA1 | c.2769T>G (p.Phe923Leu) c.2589T>G (p.Phe863Leu) c.2844T>G (p.Phe948Leu) c.2406T>G (p.Phe802Leu) c.2706T>G (p.Phe902Leu) n.3157T>G | |
| 9 | g.104822555A>G | CA466506719 | ABCA1 | c.2769T>C (p.Phe923=) c.2589T>C (p.Phe863=) c.2844T>C (p.Phe948=) c.2406T>C (p.Phe802=) c.2706T>C (p.Phe902=) n.3157T>C | dbSNP |
| 9 | g.104822555A>T | CA374320225 | ABCA1 | c.2769T>A (p.Phe923Leu) c.2589T>A (p.Phe863Leu) c.2844T>A (p.Phe948Leu) c.2406T>A (p.Phe802Leu) c.2706T>A (p.Phe902Leu) n.3157T>A | |
| 9 | g.104822556A>C | CA374320226 | ABCA1 | c.2768T>G (p.Phe923Cys) c.2588T>G (p.Phe863Cys) c.2843T>G (p.Phe948Cys) c.2405T>G (p.Phe802Cys) c.2705T>G (p.Phe902Cys) n.3156T>G | gnomAD v4 |
| 9 | g.104822556A>G | CA374320227 | ABCA1 | c.2768T>C (p.Phe923Ser) c.2588T>C (p.Phe863Ser) c.2843T>C (p.Phe948Ser) c.2405T>C (p.Phe802Ser) c.2705T>C (p.Phe902Ser) n.3156T>C | |
| 9 | g.104822556A>T | CA374320228 | ABCA1 | c.2768T>A (p.Phe923Tyr) c.2588T>A (p.Phe863Tyr) c.2843T>A (p.Phe948Tyr) c.2405T>A (p.Phe802Tyr) c.2705T>A (p.Phe902Tyr) n.3156T>A | |
| 9 | g.104822557A>C | CA374320229 | ABCA1 | c.2767T>G (p.Phe923Val) c.2587T>G (p.Phe863Val) c.2842T>G (p.Phe948Val) c.2404T>G (p.Phe802Val) c.2704T>G (p.Phe902Val) n.3155T>G | |
| 9 | g.104822557A>G | CA374320230 | ABCA1 | c.2767T>C (p.Phe923Leu) c.2587T>C (p.Phe863Leu) c.2842T>C (p.Phe948Leu) c.2404T>C (p.Phe802Leu) c.2704T>C (p.Phe902Leu) n.3155T>C | |
| 9 | g.104822557A>T | CA374320231 | ABCA1 | c.2767T>A (p.Phe923Ile) c.2587T>A (p.Phe863Ile) c.2842T>A (p.Phe948Ile) c.2404T>A (p.Phe802Ile) c.2704T>A (p.Phe902Ile) n.3155T>A | |
| 9 | g.104822558A>C | CA374320232 | ABCA1 | c.2766T>G (p.Asn922Lys) c.2586T>G (p.Asn862Lys) c.2841T>G (p.Asn947Lys) c.2403T>G (p.Asn801Lys) c.2703T>G (p.Asn901Lys) n.3154T>G | |
| 9 | g.104822558A>G | CA466506720 | ABCA1 | c.2766T>C (p.Asn922=) c.2586T>C (p.Asn862=) c.2841T>C (p.Asn947=) c.2403T>C (p.Asn801=) c.2703T>C (p.Asn901=) n.3154T>C | |
| 9 | g.104822558A>T | CA374320233 | ABCA1 | c.2766T>A (p.Asn922Lys) c.2586T>A (p.Asn862Lys) c.2841T>A (p.Asn947Lys) c.2403T>A (p.Asn801Lys) c.2703T>A (p.Asn901Lys) n.3154T>A | |
| 9 | g.104822559T>A | CA374320234 | ABCA1 | c.2765A>T (p.Asn922Ile) c.2585A>T (p.Asn862Ile) c.2840A>T (p.Asn947Ile) c.2402A>T (p.Asn801Ile) c.2702A>T (p.Asn901Ile) n.3153A>T | |
| 9 | g.104822559T>C | CA374320235 | ABCA1 | c.2765A>G (p.Asn922Ser) c.2585A>G (p.Asn862Ser) c.2840A>G (p.Asn947Ser) c.2402A>G (p.Asn801Ser) c.2702A>G (p.Asn901Ser) n.3153A>G | |
| 9 | g.104822559T>G | CA374320236 | ABCA1 | c.2765A>C (p.Asn922Thr) c.2585A>C (p.Asn862Thr) c.2840A>C (p.Asn947Thr) c.2402A>C (p.Asn801Thr) c.2702A>C (p.Asn901Thr) n.3153A>C | |
| 9 | g.104822560T>A | CA374320237 | ABCA1 | c.2764A>T (p.Asn922Tyr) c.2584A>T (p.Asn862Tyr) c.2839A>T (p.Asn947Tyr) c.2401A>T (p.Asn801Tyr) c.2701A>T (p.Asn901Tyr) n.3152A>T | |
| 9 | g.104822560T>C | CA374320238 | ABCA1 | c.2764A>G (p.Asn922Asp) c.2584A>G (p.Asn862Asp) c.2839A>G (p.Asn947Asp) c.2401A>G (p.Asn801Asp) c.2701A>G (p.Asn901Asp) n.3152A>G | dbSNP |
| 9 | g.104822560T>G | CA374320239 | ABCA1 | c.2764A>C (p.Asn922His) c.2584A>C (p.Asn862His) c.2839A>C (p.Asn947His) c.2401A>C (p.Asn801His) c.2701A>C (p.Asn901His) n.3152A>C | |
| 9 | g.104822560T= | CA1869954036 | ABCA1 | c.2764A= (p.Asn922=) c.2584A= (p.Asn862=) c.2839A= (p.Asn947=) c.2401A= (p.Asn801=) c.2701A= (p.Asn901=) n.3152A= | |
| 9 | g.104822561C>A | CA466506721 | ABCA1 | c.2763G>T (p.Leu921=) c.2583G>T (p.Leu861=) c.2838G>T (p.Leu946=) c.2400G>T (p.Leu800=) c.2700G>T (p.Leu900=) n.3151G>T | |
| 9 | g.104822561C>G | CA466506722 | ABCA1 | c.2763G>C (p.Leu921=) c.2583G>C (p.Leu861=) c.2838G>C (p.Leu946=) c.2400G>C (p.Leu800=) c.2700G>C (p.Leu900=) n.3151G>C | dbSNP |
| 9 | g.104822561C>T | CA466506723 | ABCA1 | c.2763G>A (p.Leu921=) c.2583G>A (p.Leu861=) c.2838G>A (p.Leu946=) c.2400G>A (p.Leu800=) c.2700G>A (p.Leu900=) n.3151G>A | |
| 9 | g.104822562A>C | CA374320240 | ABCA1 | c.2762T>G (p.Leu921Arg) c.2582T>G (p.Leu861Arg) c.2837T>G (p.Leu946Arg) c.2399T>G (p.Leu800Arg) c.2699T>G (p.Leu900Arg) n.3150T>G | |
| 9 | g.104822562A>G | CA374320241 | ABCA1 | c.2762T>C (p.Leu921Pro) c.2582T>C (p.Leu861Pro) c.2837T>C (p.Leu946Pro) c.2399T>C (p.Leu800Pro) c.2699T>C (p.Leu900Pro) n.3150T>C | |
| 9 | g.104822562A>T | CA374320242 | ABCA1 | c.2762T>A (p.Leu921Gln) c.2582T>A (p.Leu861Gln) c.2837T>A (p.Leu946Gln) c.2399T>A (p.Leu800Gln) c.2699T>A (p.Leu900Gln) n.3150T>A | |
| 9 | g.104822563G>A | CA466506724 | ABCA1 | c.2761C>T (p.Leu921=) c.2581C>T (p.Leu861=) c.2836C>T (p.Leu946=) c.2398C>T (p.Leu800=) c.2698C>T (p.Leu900=) n.3149C>T | dbSNP |
| 9 | g.104822563G>C | CA374320243 | ABCA1 | c.2761C>G (p.Leu921Val) c.2581C>G (p.Leu861Val) c.2836C>G (p.Leu946Val) c.2398C>G (p.Leu800Val) c.2698C>G (p.Leu900Val) n.3149C>G | |
| 9 | g.104822563G= | CA1869954039 | ABCA1 | c.2761C= (p.Leu921=) c.2581C= (p.Leu861=) c.2836C= (p.Leu946=) c.2398C= (p.Leu800=) c.2698C= (p.Leu900=) n.3149C= | |
| 9 | g.104822563G>T | CA374320244 | ABCA1 | c.2761C>A (p.Leu921Met) c.2581C>A (p.Leu861Met) c.2836C>A (p.Leu946Met) c.2398C>A (p.Leu800Met) c.2698C>A (p.Leu900Met) n.3149C>A | |
| 9 | g.104822564T>A | CA466506725 | ABCA1 | c.2760A>T (p.Ala920=) c.2580A>T (p.Ala860=) c.2835A>T (p.Ala945=) c.2397A>T (p.Ala799=) c.2697A>T (p.Ala899=) n.3148A>T | |
| 9 | g.104822564T>C | CA466506726 | ABCA1 | c.2760A>G (p.Ala920=) c.2580A>G (p.Ala860=) c.2835A>G (p.Ala945=) c.2397A>G (p.Ala799=) c.2697A>G (p.Ala899=) n.3148A>G | |
| 9 | g.104822564T>G | CA466506727 | ABCA1 | c.2760A>C (p.Ala920=) c.2580A>C (p.Ala860=) c.2835A>C (p.Ala945=) c.2397A>C (p.Ala799=) c.2697A>C (p.Ala899=) n.3148A>C | dbSNP |
| 9 | g.104822564T= | CA1869954043 | ABCA1 | c.2760A= (p.Ala920=) c.2580A= (p.Ala860=) c.2835A= (p.Ala945=) c.2397A= (p.Ala799=) c.2697A= (p.Ala899=) n.3148A= | |
| 9 | g.104822564_104822575delinsTGCCAGGCCATC | CA1869954044 | ABCA1 | c.2749_2760delinsGATGGCCTGGCA (p.Asp917=) c.2569_2580delinsGATGGCCTGGCA (p.Asp857=) c.2824_2835delinsGATGGCCTGGCA (p.Asp942=) c.2386_2397delinsGATGGCCTGGCA (p.Asp796=) c.2686_2697delinsGATGGCCTGGCA (p.Asp896=) n.3137_3148delinsGATGGCCTGGCA | |
| 9 | g.104822565G>A | CA374320246 | ABCA1 | c.2759C>T (p.Ala920Val) c.2579C>T (p.Ala860Val) c.2834C>T (p.Ala945Val) c.2396C>T (p.Ala799Val) c.2696C>T (p.Ala899Val) n.3147C>T | |
| 9 | g.104822565G>C | CA374320247 | ABCA1 | c.2759C>G (p.Ala920Gly) c.2579C>G (p.Ala860Gly) c.2834C>G (p.Ala945Gly) c.2396C>G (p.Ala799Gly) c.2696C>G (p.Ala899Gly) n.3147C>G | |
| 9 | g.104822565G>T | CA374320245 | ABCA1 | c.2759C>A (p.Ala920Glu) c.2579C>A (p.Ala860Glu) c.2834C>A (p.Ala945Glu) c.2396C>A (p.Ala799Glu) c.2696C>A (p.Ala899Glu) n.3147C>A | |
| 9 | g.104822566_104822576del | CA5168651 | ABCA1 | c.2749_2759del (p.Asp917ThrfsTer5) c.2569_2579del (p.Asp857ThrfsTer5) c.2824_2834del (p.Asp942ThrfsTer5) c.2386_2396del (p.Asp796ThrfsTer5) c.2686_2696del (p.Asp896ThrfsTer5) n.3137_3147del | dbSNP ExAC gnomAD v2 |
| 9 | g.104822566C>A | CA374320248 | ABCA1 | c.2758G>T (p.Ala920Ser) c.2578G>T (p.Ala860Ser) c.2833G>T (p.Ala945Ser) c.2395G>T (p.Ala799Ser) c.2695G>T (p.Ala899Ser) n.3146G>T | |
| 9 | g.104822566C>G | CA374320249 | ABCA1 | c.2758G>C (p.Ala920Pro) c.2578G>C (p.Ala860Pro) c.2833G>C (p.Ala945Pro) c.2395G>C (p.Ala799Pro) c.2695G>C (p.Ala899Pro) n.3146G>C | |
| 9 | g.104822566C>T | CA374320250 | ABCA1 | c.2758G>A (p.Ala920Thr) c.2578G>A (p.Ala860Thr) c.2833G>A (p.Ala945Thr) c.2395G>A (p.Ala799Thr) c.2695G>A (p.Ala899Thr) n.3146G>A | gnomAD v4 |
| 9 | g.104822567C>A | CA466506729 | ABCA1 | c.2757G>T (p.Leu919=) c.2577G>T (p.Leu859=) c.2832G>T (p.Leu944=) c.2394G>T (p.Leu798=) c.2694G>T (p.Leu898=) n.3145G>T | |
| 9 | g.104822567C= | CA1869954052 | ABCA1 | c.2757G= (p.Leu919=) c.2577G= (p.Leu859=) c.2832G= (p.Leu944=) c.2394G= (p.Leu798=) c.2694G= (p.Leu898=) n.3145G= | |
| 9 | g.104822567C>G | CA466506728 | ABCA1 | c.2757G>C (p.Leu919=) c.2577G>C (p.Leu859=) c.2832G>C (p.Leu944=) c.2394G>C (p.Leu798=) c.2694G>C (p.Leu898=) n.3145G>C | |
| 9 | g.104822567C>T | CA5168652 | ABCA1 | c.2757G>A (p.Leu919=) c.2577G>A (p.Leu859=) c.2832G>A (p.Leu944=) c.2394G>A (p.Leu798=) c.2694G>A (p.Leu898=) n.3145G>A | dbSNP ExAC |
| 9 | g.104822568A>C | CA374320253 | ABCA1 | c.2756T>G (p.Leu919Arg) c.2576T>G (p.Leu859Arg) c.2831T>G (p.Leu944Arg) c.2393T>G (p.Leu798Arg) c.2693T>G (p.Leu898Arg) n.3144T>G | |
| 9 | g.104822568A>G | CA374320252 | ABCA1 | c.2756T>C (p.Leu919Pro) c.2576T>C (p.Leu859Pro) c.2831T>C (p.Leu944Pro) c.2393T>C (p.Leu798Pro) c.2693T>C (p.Leu898Pro) n.3144T>C | |
| 9 | g.104822568A>T | CA374320251 | ABCA1 | c.2756T>A (p.Leu919Gln) c.2576T>A (p.Leu859Gln) c.2831T>A (p.Leu944Gln) c.2393T>A (p.Leu798Gln) c.2693T>A (p.Leu898Gln) n.3144T>A | |
| 9 | g.104822569G>A | CA197390262 | ABCA1 | c.2755C>T (p.Leu919=) c.2575C>T (p.Leu859=) c.2830C>T (p.Leu944=) c.2392C>T (p.Leu798=) c.2692C>T (p.Leu898=) n.3143C>T | dbSNP |
| 9 | g.104822569G>C | CA374320254 | ABCA1 | c.2755C>G (p.Leu919Val) c.2575C>G (p.Leu859Val) c.2830C>G (p.Leu944Val) c.2392C>G (p.Leu798Val) c.2692C>G (p.Leu898Val) n.3143C>G | |
| 9 | g.104822569G= | CA1869954057 | ABCA1 | c.2755C= (p.Leu919=) c.2575C= (p.Leu859=) c.2830C= (p.Leu944=) c.2392C= (p.Leu798=) c.2692C= (p.Leu898=) n.3143C= | |
| 9 | g.104822569G>T | CA374320255 | ABCA1 | c.2755C>A (p.Leu919Met) c.2575C>A (p.Leu859Met) c.2830C>A (p.Leu944Met) c.2392C>A (p.Leu798Met) c.2692C>A (p.Leu898Met) n.3143C>A | |
| 9 | g.104822570G>A | CA466506730 | ABCA1 | c.2754C>T (p.Gly918=) c.2574C>T (p.Gly858=) c.2829C>T (p.Gly943=) c.2391C>T (p.Gly797=) c.2691C>T (p.Gly897=) n.3142C>T | |
| 9 | g.104822570G>C | CA466506731 | ABCA1 | c.2754C>G (p.Gly918=) c.2574C>G (p.Gly858=) c.2829C>G (p.Gly943=) c.2391C>G (p.Gly797=) c.2691C>G (p.Gly897=) n.3142C>G | |
| 9 | g.104822570G>T | CA466506732 | ABCA1 | c.2754C>A (p.Gly918=) c.2574C>A (p.Gly858=) c.2829C>A (p.Gly943=) c.2391C>A (p.Gly797=) c.2691C>A (p.Gly897=) n.3142C>A | |
| 9 | g.104822571C>A | CA374320256 | ABCA1 | c.2753G>T (p.Gly918Val) c.2573G>T (p.Gly858Val) c.2828G>T (p.Gly943Val) c.2390G>T (p.Gly797Val) c.2690G>T (p.Gly897Val) n.3141G>T | |
| 9 | g.104822571C>G | CA374320257 | ABCA1 | c.2753G>C (p.Gly918Ala) c.2573G>C (p.Gly858Ala) c.2828G>C (p.Gly943Ala) c.2390G>C (p.Gly797Ala) c.2690G>C (p.Gly897Ala) n.3141G>C | |
| 9 | g.104822571C>T | CA374320258 | ABCA1 | c.2753G>A (p.Gly918Asp) c.2573G>A (p.Gly858Asp) c.2828G>A (p.Gly943Asp) c.2390G>A (p.Gly797Asp) c.2690G>A (p.Gly897Asp) n.3141G>A | |
| 9 | g.104822572C>A | CA374320259 | ABCA1 | c.2752G>T (p.Gly918Cys) c.2572G>T (p.Gly858Cys) c.2827G>T (p.Gly943Cys) c.2389G>T (p.Gly797Cys) c.2689G>T (p.Gly897Cys) n.3140G>T | |
| 9 | g.104822572C>G | CA374320261 | ABCA1 | c.2752G>C (p.Gly918Arg) c.2572G>C (p.Gly858Arg) c.2827G>C (p.Gly943Arg) c.2389G>C (p.Gly797Arg) c.2689G>C (p.Gly897Arg) n.3140G>C | |
| 9 | g.104822572C>T | CA374320260 | ABCA1 | c.2752G>A (p.Gly918Ser) c.2572G>A (p.Gly858Ser) c.2827G>A (p.Gly943Ser) c.2389G>A (p.Gly797Ser) c.2689G>A (p.Gly897Ser) n.3140G>A | gnomAD v4 |
| 9 | g.104822573A= | CA1869954060 | ABCA1 | c.2751T= (p.Asp917=) c.2571T= (p.Asp857=) c.2826T= (p.Asp942=) c.2388T= (p.Asp796=) c.2688T= (p.Asp896=) n.3139T= | |
| 9 | g.104822573A>C | CA374320262 | ABCA1 | c.2751T>G (p.Asp917Glu) c.2571T>G (p.Asp857Glu) c.2826T>G (p.Asp942Glu) c.2388T>G (p.Asp796Glu) c.2688T>G (p.Asp896Glu) n.3139T>G | |
| 9 | g.104822573A>G | CA466506733 | ABCA1 | c.2751T>C (p.Asp917=) c.2571T>C (p.Asp857=) c.2826T>C (p.Asp942=) c.2388T>C (p.Asp796=) c.2688T>C (p.Asp896=) n.3139T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104822573A>T | CA374320263 | ABCA1 | c.2751T>A (p.Asp917Glu) c.2571T>A (p.Asp857Glu) c.2826T>A (p.Asp942Glu) c.2388T>A (p.Asp796Glu) c.2688T>A (p.Asp896Glu) n.3139T>A | |
| 9 | g.104822574T>A | CA374320264 | ABCA1 | c.2750A>T (p.Asp917Val) c.2570A>T (p.Asp857Val) c.2825A>T (p.Asp942Val) c.2387A>T (p.Asp796Val) c.2687A>T (p.Asp896Val) n.3138A>T | |
| 9 | g.104822574T>C | CA374320265 | ABCA1 | c.2750A>G (p.Asp917Gly) c.2570A>G (p.Asp857Gly) c.2825A>G (p.Asp942Gly) c.2387A>G (p.Asp796Gly) c.2687A>G (p.Asp896Gly) n.3138A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104822574T>G | CA374320266 | ABCA1 | c.2750A>C (p.Asp917Ala) c.2570A>C (p.Asp857Ala) c.2825A>C (p.Asp942Ala) c.2387A>C (p.Asp796Ala) c.2687A>C (p.Asp896Ala) n.3138A>C | |
| 9 | g.104822574T= | CA1869954062 | ABCA1 | c.2750A= (p.Asp917=) c.2570A= (p.Asp857=) c.2825A= (p.Asp942=) c.2387A= (p.Asp796=) c.2687A= (p.Asp896=) n.3138A= | |
| 9 | g.104822575C>A | CA374320267 | ABCA1 | c.2749G>T (p.Asp917Tyr) c.2569G>T (p.Asp857Tyr) c.2824G>T (p.Asp942Tyr) c.2386G>T (p.Asp796Tyr) c.2686G>T (p.Asp896Tyr) n.3137G>T | COSMIC |
| 9 | g.104822575C= | CA1869954066 | ABCA1 | c.2749G= (p.Asp917=) c.2569G= (p.Asp857=) c.2824G= (p.Asp942=) c.2386G= (p.Asp796=) c.2686G= (p.Asp896=) n.3137G= | |
| 9 | g.104822575C>G | CA374320268 | ABCA1 | c.2749G>C (p.Asp917His) c.2569G>C (p.Asp857His) c.2824G>C (p.Asp942His) c.2386G>C (p.Asp796His) c.2686G>C (p.Asp896His) n.3137G>C | |
| 9 | g.104822575C>T | CA5168653 | ABCA1 | c.2749G>A (p.Asp917Asn) c.2569G>A (p.Asp857Asn) c.2824G>A (p.Asp942Asn) c.2386G>A (p.Asp796Asn) c.2686G>A (p.Asp896Asn) n.3137G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.104822576G>A | CA5168654 | ABCA1 | c.2748C>T (p.Val916=) c.2568C>T (p.Val856=) c.2823C>T (p.Val941=) c.2385C>T (p.Val795=) c.2685C>T (p.Val895=) n.3136C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104822576G>C | CA466506734 | ABCA1 | c.2748C>G (p.Val916=) c.2568C>G (p.Val856=) c.2823C>G (p.Val941=) c.2385C>G (p.Val795=) c.2685C>G (p.Val895=) n.3136C>G | |
| 9 | g.104822576G= | CA1869954078 | ABCA1 | c.2748C= (p.Val916=) c.2568C= (p.Val856=) c.2823C= (p.Val941=) c.2385C= (p.Val795=) c.2685C= (p.Val895=) n.3136C= | |
| 9 | g.104822576G>T | CA466506735 | ABCA1 | c.2748C>A (p.Val916=) c.2568C>A (p.Val856=) c.2823C>A (p.Val941=) c.2385C>A (p.Val795=) c.2685C>A (p.Val895=) n.3136C>A | |
| 9 | g.104822577A>C | CA374320269 | ABCA1 | c.2747T>G (p.Val916Gly) c.2567T>G (p.Val856Gly) c.2822T>G (p.Val941Gly) c.2384T>G (p.Val795Gly) c.2684T>G (p.Val895Gly) n.3135T>G | |
| 9 | g.104822577A>G | CA374320270 | ABCA1 | c.2747T>C (p.Val916Ala) c.2567T>C (p.Val856Ala) c.2822T>C (p.Val941Ala) c.2384T>C (p.Val795Ala) c.2684T>C (p.Val895Ala) n.3135T>C | |
| 9 | g.104822577A>T | CA374320271 | ABCA1 | c.2747T>A (p.Val916Asp) c.2567T>A (p.Val856Asp) c.2822T>A (p.Val941Asp) c.2384T>A (p.Val795Asp) c.2684T>A (p.Val895Asp) n.3135T>A | |
| 9 | g.104822578C>A | CA374320273 | ABCA1 | c.2746G>T (p.Val916Phe) c.2566G>T (p.Val856Phe) c.2821G>T (p.Val941Phe) c.2383G>T (p.Val795Phe) c.2683G>T (p.Val895Phe) n.3134G>T | |
| 9 | g.104822578C>G | CA374320274 | ABCA1 | c.2746G>C (p.Val916Leu) c.2566G>C (p.Val856Leu) c.2821G>C (p.Val941Leu) c.2383G>C (p.Val795Leu) c.2683G>C (p.Val895Leu) n.3134G>C | |
| 9 | g.104822578C>T | CA374320272 | ABCA1 | c.2746G>A (p.Val916Ile) c.2566G>A (p.Val856Ile) c.2821G>A (p.Val941Ile) c.2383G>A (p.Val795Ile) c.2683G>A (p.Val895Ile) n.3134G>A | gnomAD v4 |
| 9 | g.104822579A= | CA1869954083 | ABCA1 | c.2745T= (p.Ala915=) c.2565T= (p.Ala855=) c.2820T= (p.Ala940=) c.2382T= (p.Ala794=) c.2682T= (p.Ala894=) n.3133T= | |
| 9 | g.104822579A>C | CA466506736 | ABCA1 | c.2745T>G (p.Ala915=) c.2565T>G (p.Ala855=) c.2820T>G (p.Ala940=) c.2382T>G (p.Ala794=) c.2682T>G (p.Ala894=) n.3133T>G | |
| 9 | g.104822579A>G | CA466506737 | ABCA1 | c.2745T>C (p.Ala915=) c.2565T>C (p.Ala855=) c.2820T>C (p.Ala940=) c.2382T>C (p.Ala794=) c.2682T>C (p.Ala894=) n.3133T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104822579A>T | CA466506738 | ABCA1 | c.2745T>A (p.Ala915=) c.2565T>A (p.Ala855=) c.2820T>A (p.Ala940=) c.2382T>A (p.Ala794=) c.2682T>A (p.Ala894=) n.3133T>A | |
| 9 | g.104822580G>A | CA374320277 | ABCA1 | c.2744C>T (p.Ala915Val) c.2564C>T (p.Ala855Val) c.2819C>T (p.Ala940Val) c.2381C>T (p.Ala794Val) c.2681C>T (p.Ala894Val) n.3132C>T | dbSNP |
| 9 | g.104822580G>C | CA374320275 | ABCA1 | c.2744C>G (p.Ala915Gly) c.2564C>G (p.Ala855Gly) c.2819C>G (p.Ala940Gly) c.2381C>G (p.Ala794Gly) c.2681C>G (p.Ala894Gly) n.3132C>G | |
| 9 | g.104822580G= | CA1869954086 | ABCA1 | c.2744C= (p.Ala915=) c.2564C= (p.Ala855=) c.2819C= (p.Ala940=) c.2381C= (p.Ala794=) c.2681C= (p.Ala894=) n.3132C= | |
| 9 | g.104822580G>T | CA374320276 | ABCA1 | c.2744C>A (p.Ala915Asp) c.2564C>A (p.Ala855Asp) c.2819C>A (p.Ala940Asp) c.2381C>A (p.Ala794Asp) c.2681C>A (p.Ala894Asp) n.3132C>A | |
| 9 | g.104822581C>A | CA374320278 | ABCA1 | c.2743G>T (p.Ala915Ser) c.2563G>T (p.Ala855Ser) c.2818G>T (p.Ala940Ser) c.2380G>T (p.Ala794Ser) c.2680G>T (p.Ala894Ser) n.3131G>T | |
| 9 | g.104822581C>G | CA374320279 | ABCA1 | c.2743G>C (p.Ala915Pro) c.2563G>C (p.Ala855Pro) c.2818G>C (p.Ala940Pro) c.2380G>C (p.Ala794Pro) c.2680G>C (p.Ala894Pro) n.3131G>C | |
| 9 | g.104822581C>T | CA374320280 | ABCA1 | c.2743G>A (p.Ala915Thr) c.2563G>A (p.Ala855Thr) c.2818G>A (p.Ala940Thr) c.2380G>A (p.Ala794Thr) c.2680G>A (p.Ala894Thr) n.3131G>A | gnomAD v4 |
| 9 | g.104822582C>A | CA466506739 | ABCA1 | c.2742G>T (p.Val914=) c.2562G>T (p.Val854=) c.2817G>T (p.Val939=) c.2379G>T (p.Val793=) c.2679G>T (p.Val893=) n.3130G>T | |
| 9 | g.104822582C>G | CA466506740 | ABCA1 | c.2742G>C (p.Val914=) c.2562G>C (p.Val854=) c.2817G>C (p.Val939=) c.2379G>C (p.Val793=) c.2679G>C (p.Val893=) n.3130G>C | |
| 9 | g.104822582C>T | CA466506741 | ABCA1 | c.2742G>A (p.Val914=) c.2562G>A (p.Val854=) c.2817G>A (p.Val939=) c.2379G>A (p.Val793=) c.2679G>A (p.Val893=) n.3130G>A | |
| 9 | g.104822583A>C | CA374320281 | ABCA1 | c.2741T>G (p.Val914Gly) c.2561T>G (p.Val854Gly) c.2816T>G (p.Val939Gly) c.2378T>G (p.Val793Gly) c.2678T>G (p.Val893Gly) n.3129T>G | |
| 9 | g.104822583A>G | CA374320282 | ABCA1 | c.2741T>C (p.Val914Ala) c.2561T>C (p.Val854Ala) c.2816T>C (p.Val939Ala) c.2378T>C (p.Val793Ala) c.2678T>C (p.Val893Ala) n.3129T>C | |
| 9 | g.104822583A>T | CA374320283 | ABCA1 | c.2741T>A (p.Val914Glu) c.2561T>A (p.Val854Glu) c.2816T>A (p.Val939Glu) c.2378T>A (p.Val793Glu) c.2678T>A (p.Val893Glu) n.3129T>A | |
| 9 | g.104822584C>A | CA374320284 | ABCA1 | c.2740G>T (p.Val914Leu) c.2560G>T (p.Val854Leu) c.2815G>T (p.Val939Leu) c.2377G>T (p.Val793Leu) c.2677G>T (p.Val893Leu) n.3128G>T | |
| 9 | g.104822584C>G | CA374320285 | ABCA1 | c.2740G>C (p.Val914Leu) c.2560G>C (p.Val854Leu) c.2815G>C (p.Val939Leu) c.2377G>C (p.Val793Leu) c.2677G>C (p.Val893Leu) n.3128G>C | |
| 9 | g.104822584C>T | CA374320286 | ABCA1 | c.2740G>A (p.Val914Met) c.2560G>A (p.Val854Met) c.2815G>A (p.Val939Met) c.2377G>A (p.Val793Met) c.2677G>A (p.Val893Met) n.3128G>A | gnomAD v4 |
| 9 | g.104822585C>A | CA374320287 | ABCA1 | c.2739G>T (p.Lys913Asn) c.2559G>T (p.Lys853Asn) c.2814G>T (p.Lys938Asn) c.2376G>T (p.Lys792Asn) c.2676G>T (p.Lys892Asn) n.3127G>T | |
| 9 | g.104822585C= | CA1869954095 | ABCA1 | c.2739G= (p.Lys913=) c.2559G= (p.Lys853=) c.2814G= (p.Lys938=) c.2376G= (p.Lys792=) c.2676G= (p.Lys892=) n.3127G= | |
| 9 | g.104822585C>G | CA374320288 | ABCA1 | c.2739G>C (p.Lys913Asn) c.2559G>C (p.Lys853Asn) c.2814G>C (p.Lys938Asn) c.2376G>C (p.Lys792Asn) c.2676G>C (p.Lys892Asn) n.3127G>C | gnomAD v4 |
| 9 | g.104822585C>T | CA466506742 | ABCA1 | c.2739G>A (p.Lys913=) c.2559G>A (p.Lys853=) c.2814G>A (p.Lys938=) c.2376G>A (p.Lys792=) c.2676G>A (p.Lys892=) n.3127G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104822586T>A | CA374320291 | ABCA1 | c.2738A>T (p.Lys913Met) c.2558A>T (p.Lys853Met) c.2813A>T (p.Lys938Met) c.2375A>T (p.Lys792Met) c.2675A>T (p.Lys892Met) n.3126A>T | |
| 9 | g.104822586T>C | CA374320289 | ABCA1 | c.2738A>G (p.Lys913Arg) c.2558A>G (p.Lys853Arg) c.2813A>G (p.Lys938Arg) c.2375A>G (p.Lys792Arg) c.2675A>G (p.Lys892Arg) n.3126A>G | |
| 9 | g.104822586T>G | CA374320290 | ABCA1 | c.2738A>C (p.Lys913Thr) c.2558A>C (p.Lys853Thr) c.2813A>C (p.Lys938Thr) c.2375A>C (p.Lys792Thr) c.2675A>C (p.Lys892Thr) n.3126A>C | |
| 9 | g.104822587T>A | CA374320292 | ABCA1 | c.2737A>T (p.Lys913Ter) c.2557A>T (p.Lys853Ter) c.2812A>T (p.Lys938Ter) c.2374A>T (p.Lys792Ter) c.2674A>T (p.Lys892Ter) n.3125A>T | |
| 9 | g.104822587T>C | CA374320293 | ABCA1 | c.2737A>G (p.Lys913Glu) c.2557A>G (p.Lys853Glu) c.2812A>G (p.Lys938Glu) c.2374A>G (p.Lys792Glu) c.2674A>G (p.Lys892Glu) n.3125A>G | |
| 9 | g.104822587T>G | CA374320294 | ABCA1 | c.2737A>C (p.Lys913Gln) c.2557A>C (p.Lys853Gln) c.2812A>C (p.Lys938Gln) c.2374A>C (p.Lys792Gln) c.2674A>C (p.Lys892Gln) n.3125A>C | |
| 9 | g.104822588C>A | CA374320295 | ABCA1 | c.2736G>T (p.Met912Ile) c.2556G>T (p.Met852Ile) c.2811G>T (p.Met937Ile) c.2373G>T (p.Met791Ile) c.2673G>T (p.Met891Ile) n.3124G>T | |
| 9 | g.104822588C>G | CA374320296 | ABCA1 | c.2736G>C (p.Met912Ile) c.2556G>C (p.Met852Ile) c.2811G>C (p.Met937Ile) c.2373G>C (p.Met791Ile) c.2673G>C (p.Met891Ile) n.3124G>C | |
| 9 | g.104822588C>T | CA374320297 | ABCA1 | c.2736G>A (p.Met912Ile) c.2556G>A (p.Met852Ile) c.2811G>A (p.Met937Ile) c.2373G>A (p.Met791Ile) c.2673G>A (p.Met891Ile) n.3124G>A | ClinVar |