ClinVar Miner

List of variants in gene ABCA1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1077
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.2829-244G>A rs2740475 0.97505
NM_005502.4(ABCA1):c.4559+30G>T rs2777801 0.85910
NM_005502.4(ABCA1):c.5506+252C>T rs2740482 0.68024
NM_005502.4(ABCA1):c.5506+251G>T rs2740481 0.68016
NM_005502.4(ABCA1):c.4698+258C>T rs2740477 0.64934
NM_005502.4(ABCA1):c.5758-255A>G rs2150867 0.63720
NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) rs2230808 0.59607
NM_005502.4(ABCA1):c.4773+234C>T rs2740480 0.59587
NM_005502.4(ABCA1):c.1195-62_1195-61insG rs4149346 0.45677
NM_005502.4(ABCA1):c.66+3401C>T rs2575875 0.45634
NM_005502.4(ABCA1):c.1892+24T>A rs4743763 0.44156
NM_005502.4(ABCA1):c.161-272T>C rs4149269 0.41014
NM_005502.4(ABCA1):c.544-161T>G rs2243313 0.38727
NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) rs2230806 0.38693
NM_005502.4(ABCA1):c.2337+95T>A rs4149310 0.34727
NM_005502.4(ABCA1):c.474G>A (p.Leu158=) rs2230805 0.31320
NM_005502.4(ABCA1):c.421+240G>A rs2275542 0.28089
NM_005502.4(ABCA1):c.422-161T>C rs2249891 0.27888
NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) rs2066714 0.25557
NM_005502.4(ABCA1):c.5927+18T>C rs2020927 0.24332
NM_005502.4(ABCA1):c.5821-215T>C rs10121901 0.24301
NM_005502.4(ABCA1):c.5821-169T>A rs4149331 0.24294
NM_005502.4(ABCA1):c.5758-242A>G rs2297407 0.24241
NM_005502.4(ABCA1):c.5820+148G>A rs2066720 0.24201
NM_005502.4(ABCA1):c.2116-130T>A rs4149309 0.23577
NM_005502.4(ABCA1):c.2116-180G>A rs4149308 0.23575
NM_005502.4(ABCA1):c.2040C>A (p.Ile680=) rs2853579 0.23559
NM_005502.4(ABCA1):c.66+156C>T rs2575876 0.23235
NM_005502.4(ABCA1):c.1195-104A>G rs2297400 0.21840
NM_005502.4(ABCA1):c.3901+153C>T rs2297409 0.21453
NM_005502.4(ABCA1):c.67-50T>C rs2275545 0.18036
NM_005502.4(ABCA1):c.1510-256T>C rs2515629 0.16024
NM_005502.4(ABCA1):c.161-1670A>G rs3847301 0.15286
NM_005502.4(ABCA1):c.948G>A (p.Gly316=) rs2246841 0.14663
NM_005502.4(ABCA1):c.160+171A>G rs2275544 0.14038
NM_005502.4(ABCA1):c.161-806C>T rs3890182 0.11691
NM_005502.4(ABCA1):c.66+144G>A rs2482424 0.11314
NM_005502.4(ABCA1):c.161-170G>A rs11789603 0.11301
NM_005502.4(ABCA1):c.814-14dup rs2067484 0.10846
NM_005502.4(ABCA1):c.-18G>C rs1800978 0.09771
NM_005502.4(ABCA1):c.5121+55T>C rs60690601 0.09459
NM_005502.4(ABCA1):c.814-243C>T rs4149298 0.09323
NM_005502.4(ABCA1):c.936C>T (p.Pro312=) rs2274873 0.09319
NM_005502.4(ABCA1):c.1716-48A>T rs563728887 0.08722
NM_005502.4(ABCA1):c.303-236A>G rs62568181 0.08498
NM_005502.4(ABCA1):c.160+209A>G rs2275543 0.08426
NM_005502.4(ABCA1):c.4593-236A>G rs1999431 0.08408
NM_005502.4(ABCA1):c.4281G>A (p.Thr1427=) rs2066716 0.08340
NM_005502.4(ABCA1):c.4593-26G>C rs2297404 0.07847
NM_005502.4(ABCA1):c.1716-238A>G rs150237889 0.07663
NM_005502.4(ABCA1):c.5637-119C>T rs2297408 0.07506
NM_005502.4(ABCA1):c.3516G>C (p.Glu1172Asp) rs33918808 0.07360
NM_005502.4(ABCA1):c.303-39C>A rs12003906 0.06940
NM_005502.4(ABCA1):c.3242-143G>A rs4149316 0.06876
NM_005502.4(ABCA1):c.3739-66C>T rs9282540 0.06791
NM_005502.4(ABCA1):c.5122-61T>C rs73519810 0.06691
NM_005502.4(ABCA1):c.5121+248A>G rs75866150 0.06680
NM_005502.4(ABCA1):c.2115+173G>A rs13306069 0.06286
NM_005502.4(ABCA1):c.1893-59C>T rs2066717 0.06277
NM_005502.4(ABCA1):c.2657-265G>A rs112853430 0.06211
NM_005502.4(ABCA1):c.1312-158C>T rs13306066 0.06106
NM_005502.4(ABCA1):c.1509+157C>T rs77437185 0.06099
NM_005502.4(ABCA1):c.2115+81A>G rs10820738 0.05894
NM_005502.4(ABCA1):c.2115+115C>A rs10820737 0.05891
NM_005502.4(ABCA1):c.1195-13C>T rs2297399 0.05862
NM_005502.4(ABCA1):c.3684G>A (p.Arg1228=) rs2230807 0.05833
NM_005502.4(ABCA1):c.2116-117G>A rs7024300 0.05793
NM_005502.4(ABCA1):c.2338-160C>T rs3824477 0.05792
NM_005502.4(ABCA1):c.3902-278C>A rs73519840 0.05782
NM_005502.4(ABCA1):c.3462+102A>G rs2020926 0.05572
NM_005502.4(ABCA1):c.5122-278G>T rs4149325 0.05535
NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile) rs2066715 0.05456
NM_005502.4(ABCA1):c.1892+229T>A rs116877428 0.05423
NM_005502.4(ABCA1):c.4176-274A>C rs2777806 0.05397
NM_005502.4(ABCA1):c.5122-232G>T rs73519813 0.05279
NM_005502.4(ABCA1):c.2960+126A>C rs41371845 0.05181
NM_005502.4(ABCA1):c.2337+155C>A rs57753200 0.05173
NM_005502.4(ABCA1):c.3738+23G>A rs2234885 0.05038
NM_005502.4(ABCA1):c.3535+149C>T rs41456650 0.04753
NM_005502.4(ABCA1):c.3364C>T (p.Leu1122=) rs35204915 0.04423
NM_005502.4(ABCA1):c.543+153C>G rs73504110 0.04320
NM_005502.4(ABCA1):c.3633A>G (p.Glu1211=) rs34788556 0.04127
NM_005502.4(ABCA1):c.2116-260G>A rs73519870 0.04005
NM_005502.4(ABCA1):c.4176-179C>T rs113132415 0.03926
NM_005502.4(ABCA1):c.1715+216A>G rs112953925 0.03861
NM_005502.4(ABCA1):c.1055-89A>G rs41391445 0.03657
NM_005502.4(ABCA1):c.5763T>C (p.Tyr1921=) rs34078184 0.03596
NM_005502.4(ABCA1):c.421+76T>G rs41419649 0.03443
NM_005502.4(ABCA1):c.161-257G>A rs75602357 0.03319
NM_005502.4(ABCA1):c.3242-259C>T rs77368189 0.03232
NM_005502.4(ABCA1):c.3463-195G>A rs2297402 0.03120
NM_005502.4(ABCA1):c.5382+85T>C rs73519807 0.02956
NM_005502.4(ABCA1):c.5507-25C>T rs78072322 0.02952
NM_005502.4(ABCA1):c.421+110G>A rs76838353 0.02944
NM_005502.4(ABCA1):c.5121+278C>G rs61240896 0.02833
NM_005502.4(ABCA1):c.160+151A>G rs10512334 0.02742
NM_005502.4(ABCA1):c.2960+18G>A rs60913410 0.02619
NM_005502.4(ABCA1):c.3738+123A>G rs41513148 0.02532
NM_005502.4(ABCA1):c.3945G>A (p.Gly1315=) rs35545593 0.02511
NM_005502.4(ABCA1):c.2115+240C>T rs73663558 0.02472
NM_005502.4(ABCA1):c.4440G>T (p.Gly1480=) rs41494750 0.02391
NM_005502.4(ABCA1):c.160+35A>G rs7341705 0.02136
NM_005502.4(ABCA1):c.67-58G>A rs41537052 0.02126
NM_005502.4(ABCA1):c.3463-65G>A rs13292447 0.02045
NM_005502.4(ABCA1):c.5383-167A>C rs78268193 0.01935
NM_005502.4(ABCA1):c.2657-52C>G rs41445345 0.01805
NM_005502.4(ABCA1):c.813+17C>T rs116728780 0.01740
NM_005502.4(ABCA1):c.1892+204A>G rs58725938 0.01730
NM_005502.4(ABCA1):c.3787+43T>C rs111337110 0.01678
NM_005502.4(ABCA1):c.3787+52T>C rs75488496 0.01668
NM_005502.4(ABCA1):c.3536-262T>C rs73663553 0.01645
NM_005502.4(ABCA1):c.2337+236G>A rs77796588 0.01618
NM_005502.4(ABCA1):c.2656+60T>C rs9282544 0.01528
NM_005502.4(ABCA1):c.1893-204A>G rs114427540 0.01347
NM_005502.4(ABCA1):c.4050+94_4050+95insAATC rs1299463222 0.01291
NM_005502.4(ABCA1):c.4050+97G>A rs997536422 0.01291
NM_005502.4(ABCA1):c.4050+99_4050+104del rs375618866 0.01291
NM_005502.4(ABCA1):c.4593-144C>T rs78101606 0.01203
NM_005502.4(ABCA1):c.4275-91G>A rs41412244 0.01156
NM_005502.4(ABCA1):c.160+26G>A rs150520154 0.01125
NM_005502.4(ABCA1):c.2542+184A>T rs77755970 0.01123
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_005502.4(ABCA1):c.1893-144C>T rs41382749 0.01087
NM_005502.4(ABCA1):c.3787+60T>C rs41410048 0.01086
NM_005502.4(ABCA1):c.1195-28C>T rs73663563 0.01059
NM_005502.4(ABCA1):c.2337+118C>A rs144961952 0.01035
NM_005502.4(ABCA1):c.2829-167C>T rs73519850 0.01019
NM_005502.4(ABCA1):c.1194+140A>T rs9282542 0.01003
NM_005502.4(ABCA1):c.2543-37A>T rs61648534 0.00987
NM_005502.4(ABCA1):c.2828+280G>T rs73663556 0.00979
NM_005502.4(ABCA1):c.2338-94A>G rs78103171 0.00936
NM_005502.4(ABCA1):c.2542+198A>T rs115169715 0.00935
NM_005502.4(ABCA1):c.4464+265C>T rs139322254 0.00915
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_005502.4(ABCA1):c.4774-54C>T rs73663549 0.00802
NM_005502.4(ABCA1):c.421+25C>T rs143894099 0.00757
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_005502.4(ABCA1):c.5122-216G>C rs118137700 0.00642
NM_005502.4(ABCA1):c.160+56A>G rs73504171 0.00614
NM_005502.4(ABCA1):c.2829-128G>A rs139397024 0.00575
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_005502.4(ABCA1):c.4176-53C>T rs41277765 0.00484
NM_005502.4(ABCA1):c.5758-160G>A rs146800165 0.00458
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541 0.00452
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_005502.4(ABCA1):c.67-230C>T rs149654209 0.00370
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_005502.4(ABCA1):c.2961-104C>T rs150150005 0.00352
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala) rs114719973 0.00175
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_005502.4(ABCA1):c.-77G>A rs552862064 0.00113
NM_005502.4(ABCA1):c.3763A>C (p.Ser1255Arg) rs41436749 0.00109
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.4022G>C (p.Arg1341Thr) rs147743782 0.00085
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.5636+18A>C rs111671370 0.00056
NM_005502.4(ABCA1):c.742C>G (p.Pro248Ala) rs142625938 0.00056
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
NM_005502.4(ABCA1):c.4698+7T>C rs41415046 0.00052
NM_005502.4(ABCA1):c.126T>C (p.Val42=) rs375663888 0.00049
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_005502.4(ABCA1):c.5020G>A (p.Val1674Ile) rs138422574 0.00044
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.2088C>T (p.Ser696=) rs199980051 0.00026
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005502.4(ABCA1):c.1953A>G (p.Ser651=) rs368774156 0.00025
NM_005502.4(ABCA1):c.4197G>A (p.Thr1399=) rs73663551 0.00025
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.1195-8G>A rs201011354 0.00019
NM_005502.4(ABCA1):c.3999G>A (p.Leu1333=) rs183043192 0.00019
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly) rs145582736 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile) rs200928212 0.00016
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr) rs199655961 0.00014
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=) rs140160885 0.00014
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=) rs148253245 0.00014
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=) rs371136175 0.00012
NM_005502.4(ABCA1):c.66+9G>T rs562165874 0.00012
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005502.4(ABCA1):c.1992G>A (p.Glu664=) rs375938870 0.00011
NM_005502.4(ABCA1):c.3567G>A (p.Lys1189=) rs184056207 0.00011
NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln) rs138487227 0.00010
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=) rs9282547 0.00010
NM_005502.4(ABCA1):c.103A>G (p.Ile35Val) rs138992952 0.00009
NM_005502.4(ABCA1):c.1276T>C (p.Phe426Leu) rs201586430 0.00009
NM_005502.4(ABCA1):c.1893-4C>G rs376684614 0.00009
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=) rs147290375 0.00009
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr) rs776604878 0.00009
NM_005502.4(ABCA1):c.3524C>T (p.Thr1175Met) rs140130551 0.00009
NM_005502.4(ABCA1):c.422-16C>T rs756065458 0.00009
NM_005502.4(ABCA1):c.4699-18G>C rs372139962 0.00009
NM_005502.4(ABCA1):c.1390G>A (p.Val464Met) rs563149622 0.00008
NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=) rs201076284 0.00008
NM_005502.4(ABCA1):c.2910C>T (p.Thr970=) rs142992384 0.00008
NM_005502.4(ABCA1):c.3054T>C (p.Asp1018=) rs148278338 0.00008
NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile) rs13306073 0.00008
NM_005502.4(ABCA1):c.720+12T>C rs774118431 0.00008
NM_005502.4(ABCA1):c.1509+15_1509+17del rs555189556 0.00007
NM_005502.4(ABCA1):c.1913G>A (p.Arg638Gln) rs374190304 0.00007
NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=) rs559256396 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.1467C>T (p.Asn489=) rs142342160 0.00006
NM_005502.4(ABCA1):c.161-12C>G rs201555773 0.00006
NM_005502.4(ABCA1):c.1973G>T (p.Gly658Val) rs758163019 0.00006
NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp) rs201599169 0.00006
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln) rs142374413 0.00006
NM_005502.4(ABCA1):c.2601C>T (p.Gly867=) rs143963691 0.00006
NM_005502.4(ABCA1):c.3144C>T (p.Val1048=) rs376835934 0.00006
NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val) rs760346286 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.5773C>T (p.Arg1925Trp) rs568280586 0.00006
NM_005502.4(ABCA1):c.708G>T (p.Leu236=) rs150572064 0.00006
NM_005502.4(ABCA1):c.2914C>T (p.Arg972Trp) rs775581315 0.00005
NM_005502.4(ABCA1):c.3831C>T (p.Asp1277=) rs752109871 0.00005
NM_005502.4(ABCA1):c.3902-19C>T rs868826271 0.00005
NM_005502.4(ABCA1):c.5316C>T (p.Ser1772=) rs150017407 0.00005
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.-24G>A rs781476164 0.00004
NM_005502.4(ABCA1):c.1759C>T (p.Arg587Trp) rs2853574 0.00004
NM_005502.4(ABCA1):c.2196G>A (p.Gln732=) rs187695583 0.00004
NM_005502.4(ABCA1):c.3470G>A (p.Ser1157Asn) rs200664068 0.00004
NM_005502.4(ABCA1):c.360C>T (p.Thr120=) rs771661583 0.00004
NM_005502.4(ABCA1):c.3739-12C>G rs948256390 0.00004
NM_005502.4(ABCA1):c.3757G>A (p.Glu1253Lys) rs138056193 0.00004
NM_005502.4(ABCA1):c.4030C>T (p.Arg1344Trp) rs193087674 0.00004
NM_005502.4(ABCA1):c.4222C>T (p.Leu1408Phe) rs201879964 0.00004
NM_005502.4(ABCA1):c.4249C>T (p.Arg1417Cys) rs749089795 0.00004
NM_005502.4(ABCA1):c.4274+14T>C rs781049063 0.00004
NM_005502.4(ABCA1):c.4280C>T (p.Thr1427Met) rs199544035 0.00004
NM_005502.4(ABCA1):c.45C>T (p.Leu15=) rs137892737 0.00004
NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser) rs141420090 0.00004
NM_005502.4(ABCA1):c.-26A>C rs199976989 0.00003
NM_005502.4(ABCA1):c.1080G>A (p.Lys360=) rs755096584 0.00003
NM_005502.4(ABCA1):c.2970C>T (p.Val990=) rs41277767 0.00003
NM_005502.4(ABCA1):c.2996G>A (p.Arg999His) rs150371991 0.00003
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005502.4(ABCA1):c.3526C>G (p.Leu1176Val) rs771515027 0.00003
NM_005502.4(ABCA1):c.3583C>T (p.Arg1195Trp) rs375234343 0.00003
NM_005502.4(ABCA1):c.3818G>A (p.Arg1273Gln) rs151175933 0.00003
NM_005502.4(ABCA1):c.3826G>A (p.Gly1276Arg) rs755256833 0.00003
NM_005502.4(ABCA1):c.4773+8G>A rs199877059 0.00003
NM_005502.4(ABCA1):c.489T>C (p.Ser163=) rs747301581 0.00003
NM_005502.4(ABCA1):c.5382+9T>C rs1213961305 0.00003
NM_005502.4(ABCA1):c.5632C>A (p.Pro1878Thr) rs774046285 0.00003
NM_005502.4(ABCA1):c.664C>T (p.Leu222=) rs778130619 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser) rs754040394 0.00002
NM_005502.4(ABCA1):c.1764C>T (p.Tyr588=) rs769424041 0.00002
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp) rs199571829 0.00002
NM_005502.4(ABCA1):c.3103+3G>A rs758322157 0.00002
NM_005502.4(ABCA1):c.3443C>T (p.Thr1148Ile) rs779114859 0.00002
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=) rs200409979 0.00002
NM_005502.4(ABCA1):c.4274C>T (p.Pro1425Leu) rs755825383 0.00002
NM_005502.4(ABCA1):c.5416G>A (p.Val1806Met) rs372779604 0.00002
NM_005502.4(ABCA1):c.562C>A (p.Gln188Lys) rs201447364 0.00002
NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile) rs748663329 0.00002
NM_005502.4(ABCA1):c.82G>C (p.Glu28Gln) rs755348141 0.00002
NM_005502.4(ABCA1):c.927C>T (p.Cys309=) rs566973265 0.00002
NM_005502.4(ABCA1):c.1029T>C (p.Ala343=) rs752777276 0.00001
NM_005502.4(ABCA1):c.1038C>G (p.Phe346Leu) rs371447248 0.00001
NM_005502.4(ABCA1):c.1091C>G (p.Ser364Cys) rs775035559 0.00001
NM_005502.4(ABCA1):c.1194+8G>T rs762508711 0.00001
NM_005502.4(ABCA1):c.1200C>T (p.Asn400=) rs763882683 0.00001
NM_005502.4(ABCA1):c.1365C>G (p.Gly455=) rs760973153 0.00001
NM_005502.4(ABCA1):c.1537A>G (p.Ile513Val) rs1213172802 0.00001
NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val) rs13306068 0.00001
NM_005502.4(ABCA1):c.1662C>T (p.Tyr554=) rs758817369 0.00001
NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg) rs2853578 0.00001
NM_005502.4(ABCA1):c.1827G>A (p.Thr609=) rs1454126964 0.00001
NM_005502.4(ABCA1):c.1900C>T (p.Arg634Trp) rs766136483 0.00001
NM_005502.4(ABCA1):c.1934C>T (p.Thr645Met) rs775631816 0.00001
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) rs759576379 0.00001
NM_005502.4(ABCA1):c.2082T>C (p.Leu694=) rs1296884530 0.00001
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys) rs780611537 0.00001
NM_005502.4(ABCA1):c.2310C>T (p.Tyr770=) rs1224347266 0.00001
NM_005502.4(ABCA1):c.2355G>T (p.Val785=) rs1355015657 0.00001
NM_005502.4(ABCA1):c.2375A>G (p.Glu792Gly) rs762990532 0.00001
NM_005502.4(ABCA1):c.2607A>T (p.Glu869Asp) rs1255744285 0.00001
NM_005502.4(ABCA1):c.2678C>T (p.Thr893Ile) rs758107854 0.00001
NM_005502.4(ABCA1):c.2694C>T (p.Gly898=) rs199596062 0.00001
NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser) rs28937313 0.00001
NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val) rs137854495 0.00001
NM_005502.4(ABCA1):c.302+15A>T rs200532064 0.00001
NM_005502.4(ABCA1):c.3103+4C>A rs1259056486 0.00001
NM_005502.4(ABCA1):c.3121C>G (p.Leu1041Val) rs192935024 0.00001
NM_005502.4(ABCA1):c.3141T>G (p.Phe1047Leu) rs1832122282 0.00001
NM_005502.4(ABCA1):c.3507C>T (p.Ser1169=) rs375992169 0.00001
NM_005502.4(ABCA1):c.3603G>A (p.Gly1201=) rs201696650 0.00001
NM_005502.4(ABCA1):c.3715A>G (p.Ile1239Val) rs138734266 0.00001
NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=) rs548468204 0.00001
NM_005502.4(ABCA1):c.376C>T (p.Arg126Cys) rs1286945641 0.00001
NM_005502.4(ABCA1):c.3787+5C>A rs371940418 0.00001
NM_005502.4(ABCA1):c.3851C>T (p.Pro1284Leu) rs763149283 0.00001
NM_005502.4(ABCA1):c.3872C>T (p.Ala1291Val) rs1831520438 0.00001
NM_005502.4(ABCA1):c.4024C>T (p.Arg1342Trp) rs760786920 0.00001
NM_005502.4(ABCA1):c.4175+1G>T rs375247413 0.00001
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) rs752528416 0.00001
NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser) rs538614702 0.00001
NM_005502.4(ABCA1):c.4196C>T (p.Thr1399Met) rs199668464 0.00001
NM_005502.4(ABCA1):c.422-12A>G rs767068000 0.00001
NM_005502.4(ABCA1):c.423C>T (p.Asn141=) rs1481675439 0.00001
NM_005502.4(ABCA1):c.4278C>T (p.Asp1426=) rs1042205538 0.00001
NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=) rs779634773 0.00001
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) rs137854494 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005502.4(ABCA1):c.4593-7C>A rs376463469 0.00001
NM_005502.4(ABCA1):c.4617C>T (p.Val1539=) rs374389503 0.00001
NM_005502.4(ABCA1):c.4939G>A (p.Ala1647Thr) rs764283065 0.00001
NM_005502.4(ABCA1):c.497A>G (p.Lys166Arg) rs377248142 0.00001
NM_005502.4(ABCA1):c.5002G>A (p.Val1668Ile) rs767589350 0.00001
NM_005502.4(ABCA1):c.5131G>A (p.Val1711Ile) rs377600690 0.00001
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) rs760507032 0.00001
NM_005502.4(ABCA1):c.5215G>A (p.Ala1739Thr) rs1030249332 0.00001
NM_005502.4(ABCA1):c.5362C>T (p.Leu1788=) rs749921908 0.00001
NM_005502.4(ABCA1):c.5383-14_5383-13insC rs753262922 0.00001
NM_005502.4(ABCA1):c.5515C>T (p.Arg1839Cys) rs755307445 0.00001
NM_005502.4(ABCA1):c.5552G>A (p.Arg1851Gln) rs1055285452 0.00001
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys) rs754410874 0.00001
NM_005502.4(ABCA1):c.5870A>C (p.Lys1957Thr) rs759114091 0.00001
NM_005502.4(ABCA1):c.647G>A (p.Gly216Asp) rs1169877858 0.00001
NM_005502.4(ABCA1):c.680G>A (p.Arg227Gln) rs555803243 0.00001
NM_005502.4(ABCA1):c.689G>A (p.Arg230His) rs767710036 0.00001
NM_005502.4(ABCA1):c.68G>A (p.Cys23Tyr) rs769337995 0.00001
NM_005502.4(ABCA1):c.787C>G (p.His263Asp) rs200572505 0.00001
NM_005502.4(ABCA1):c.983A>G (p.Asn328Ser) rs1015644827 0.00001
GRCh37/hg19 9q31.1(chr9:107596285-107597151)x0
GRCh37/hg19 9q31.1(chr9:107596285-107597707)x1
GRCh37/hg19 9q31.1(chr9:107596285-107598740)x0
NC_000009.11:g.(?_107547657)_(107550868_?)del
NC_000009.11:g.(?_107645300)_(107665960_?)dup
NG_007981.1:g.[101177_102434delins36;107248_127198delins21]
NM_005502.4(ABCA1):c.-76dup rs1799777
NM_005502.4(ABCA1):c.1006G>A (p.Gly336Ser)
NM_005502.4(ABCA1):c.1008C>G (p.Gly336=)
NM_005502.4(ABCA1):c.101_104del (p.Phe34fs) rs769323757
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
NM_005502.4(ABCA1):c.1054+14C>G
NM_005502.4(ABCA1):c.1054+218A>C rs55874167
NM_005502.4(ABCA1):c.1055-13_1055-11del
NM_005502.4(ABCA1):c.1055-16C>G
NM_005502.4(ABCA1):c.1055-18C>T
NM_005502.4(ABCA1):c.1055-3T>C
NM_005502.4(ABCA1):c.1071T>C (p.Asp357=)
NM_005502.4(ABCA1):c.1074G>A (p.Leu358=)
NM_005502.4(ABCA1):c.1089G>A (p.Glu363=)
NM_005502.4(ABCA1):c.1091C>A (p.Ser364Tyr)
NM_005502.4(ABCA1):c.1098T>C (p.Pro366=)
NM_005502.4(ABCA1):c.1125G>C (p.Leu375=)
NM_005502.4(ABCA1):c.1130C>A (p.Pro377Gln)
NM_005502.4(ABCA1):c.1131G>A (p.Pro377=)
NM_005502.4(ABCA1):c.1137C>T (p.Leu379=)
NM_005502.4(ABCA1):c.1138G>A (p.Val380Ile)
NM_005502.4(ABCA1):c.1138G>T (p.Val380Phe)
NM_005502.4(ABCA1):c.1140T>C (p.Val380=)
NM_005502.4(ABCA1):c.1145A>G (p.Lys382Arg)
NM_005502.4(ABCA1):c.1165A>C (p.Thr389Pro) rs775379458
NM_005502.4(ABCA1):c.1172C>A (p.Ala391Asp)
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1194+12C>T
NM_005502.4(ABCA1):c.1194+15G>C
NM_005502.4(ABCA1):c.1195-14_1195-13delinsTT rs2119023244
NM_005502.4(ABCA1):c.1195-19G>T rs767459609
NM_005502.4(ABCA1):c.1195-38_1195-36del rs3029584
NM_005502.4(ABCA1):c.120C>A (p.Ile40=)
NM_005502.4(ABCA1):c.1218G>A (p.Leu406=)
NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)
NM_005502.4(ABCA1):c.1230T>C (p.His410=)
NM_005502.4(ABCA1):c.1234C>T (p.Leu412=)
NM_005502.4(ABCA1):c.123T>C (p.Ser41=)
NM_005502.4(ABCA1):c.1259G>A (p.Ser420Asn) rs1833877147
NM_005502.4(ABCA1):c.1286A>G (p.Asn429Ser)
NM_005502.4(ABCA1):c.128G>A (p.Arg43Gln)
NM_005502.4(ABCA1):c.1295A>T (p.Glu432Val) rs1833872884
NM_005502.4(ABCA1):c.1300G>A (p.Asp434Asn)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1308C>G (p.Val436=)
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1312-17T>A
NM_005502.4(ABCA1):c.1312-19T>C
NM_005502.4(ABCA1):c.1312-3C>T
NM_005502.4(ABCA1):c.1329G>C (p.Arg443Ser)
NM_005502.4(ABCA1):c.1331A>C (p.Asp444Ala)
NM_005502.4(ABCA1):c.1333_1338dup (p.Asp446_His447insAsnAsp)
NM_005502.4(ABCA1):c.1335T>C (p.Asn445=)
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.1338C>T (p.Asp446=)
NM_005502.4(ABCA1):c.1344T>C (p.Phe448=)
NM_005502.4(ABCA1):c.1353G>A (p.Gln451=)
NM_005502.4(ABCA1):c.1366T>C (p.Leu456=)
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
NM_005502.4(ABCA1):c.1371T>C (p.Asp457=)
NM_005502.4(ABCA1):c.1379C>T (p.Ala460Val)
NM_005502.4(ABCA1):c.1385A>G (p.Asp462Gly)
NM_005502.4(ABCA1):c.1389C>T (p.Ile463=)
NM_005502.4(ABCA1):c.1394C>T (p.Ala465Val)
NM_005502.4(ABCA1):c.1395G>A (p.Ala465=)
NM_005502.4(ABCA1):c.1428C>T (p.Ser476=)
NM_005502.4(ABCA1):c.1435G>C (p.Gly479Arg)
NM_005502.4(ABCA1):c.1441G>T (p.Val481Leu)
NM_005502.4(ABCA1):c.1442T>G (p.Val481Gly)
NM_005502.4(ABCA1):c.1447A>C (p.Thr483Pro) rs2119009606
NM_005502.4(ABCA1):c.1461T>G (p.Ala487=)
NM_005502.4(ABCA1):c.1468G>A (p.Glu490Lys)
NM_005502.4(ABCA1):c.1477C>G (p.Gln493Glu)
NM_005502.4(ABCA1):c.1491C>T (p.Thr497=)
NM_005502.4(ABCA1):c.1492A>G (p.Ile498Val)
NM_005502.4(ABCA1):c.1498C>T (p.Arg500Cys)
NM_005502.4(ABCA1):c.1509+84del rs55659052
NM_005502.4(ABCA1):c.1510-13G>A
NM_005502.4(ABCA1):c.1510-178A>G rs116581454
NM_005502.4(ABCA1):c.1510-2A>C
NM_005502.4(ABCA1):c.1510-6T>C
NM_005502.4(ABCA1):c.1516A>T (p.Asn506Tyr)
NM_005502.4(ABCA1):c.1518C>T (p.Asn506=)
NM_005502.4(ABCA1):c.1523A>G (p.Asn508Ser)
NM_005502.4(ABCA1):c.1537A>C (p.Ile513Leu) rs1213172802
NM_005502.4(ABCA1):c.1570A>T (p.Met524Leu)
NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) rs796051873
NM_005502.4(ABCA1):c.1585G>A (p.Glu529Lys)
NM_005502.4(ABCA1):c.1587G>A (p.Glu529=)
NM_005502.4(ABCA1):c.1590G>T (p.Arg530Ser)
NM_005502.4(ABCA1):c.1609G>A (p.Val537Met) rs2119006674
NM_005502.4(ABCA1):c.161-228C>T rs4149270
NM_005502.4(ABCA1):c.1615A>C (p.Thr539Pro)
NM_005502.4(ABCA1):c.1620A>C (p.Gly540=)
NM_005502.4(ABCA1):c.1620A>T (p.Gly540=)
NM_005502.4(ABCA1):c.1634G>A (p.Ser545Asn)
NM_005502.4(ABCA1):c.1641G>A (p.Glu547=)
NM_005502.4(ABCA1):c.1647C>G (p.Pro549=)
NM_005502.4(ABCA1):c.1649A>T (p.His550Leu)
NM_005502.4(ABCA1):c.1664A>C (p.Lys555Thr)
NM_005502.4(ABCA1):c.1669C>T (p.Arg557Ter)
NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)
NM_005502.4(ABCA1):c.1680dup (p.Asp561Ter)
NM_005502.4(ABCA1):c.1685A>G (p.Asn562Ser)
NM_005502.4(ABCA1):c.1695G>A (p.Arg565=)
NM_005502.4(ABCA1):c.16C>T (p.Gln6Ter) rs1840850607
NM_005502.4(ABCA1):c.1701T>C (p.Asn567=)
NM_005502.4(ABCA1):c.1708A>C (p.Lys570Gln)
NM_005502.4(ABCA1):c.1715+12C>G
NM_005502.4(ABCA1):c.1715+16T>A
NM_005502.4(ABCA1):c.1715+20A>G
NM_005502.4(ABCA1):c.1715+3A>G rs944318256
NM_005502.4(ABCA1):c.1716-133dup rs745417929
NM_005502.4(ABCA1):c.1716-17C>G rs375275138
NM_005502.4(ABCA1):c.1716-49del rs34121951
NM_005502.4(ABCA1):c.1716-50_1716-49del rs34121951
NM_005502.4(ABCA1):c.1716-69_1716-67dup rs34121951
NM_005502.4(ABCA1):c.1716-69_1716-68dup rs34121951
NM_005502.4(ABCA1):c.1716-69dup rs34121951
NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter) rs137854502
NM_005502.4(ABCA1):c.1755C>T (p.Asp585=)
NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) rs137854496
NM_005502.4(ABCA1):c.1771G>C (p.Gly591Arg)
NM_005502.4(ABCA1):c.1774G>T (p.Gly592Cys) rs1480322697
NM_005502.4(ABCA1):c.1775del (p.Gly592fs)
NM_005502.4(ABCA1):c.1779C>T (p.Phe593=)
NM_005502.4(ABCA1):c.1789C>G (p.Gln597Glu) rs771173591
NM_005502.4(ABCA1):c.17A>C (p.Gln6Pro)
NM_005502.4(ABCA1):c.1805A>C (p.Gln602Pro)
NM_005502.4(ABCA1):c.1824del (p.Thr609fs) rs387906413
NM_005502.4(ABCA1):c.1826C>T (p.Thr609Met)
NM_005502.4(ABCA1):c.1833C>T (p.Thr611=)
NM_005502.4(ABCA1):c.1834G>A (p.Glu612Lys)
NM_005502.4(ABCA1):c.1844C>T (p.Thr615Ile)
NM_005502.4(ABCA1):c.1849_1850delinsTC (p.Val617Ser) rs2119004064
NM_005502.4(ABCA1):c.1857_1858delinsAT (p.Met619_Gln620delinsIleTer)
NM_005502.4(ABCA1):c.1881C>G (p.Tyr627Ter) rs376462722
NM_005502.4(ABCA1):c.1881C>T (p.Tyr627=)
NM_005502.4(ABCA1):c.1883T>C (p.Val628Ala)
NM_005502.4(ABCA1):c.1892+235del rs202097159
NM_005502.4(ABCA1):c.1896T>C (p.Phe632=)
NM_005502.4(ABCA1):c.1917A>C (p.Ser639=)
NM_005502.4(ABCA1):c.1935G>A (p.Thr645=)
NM_005502.4(ABCA1):c.1941C>A (p.Ala647=)
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
NM_005502.4(ABCA1):c.1960G>A (p.Val654Met)
NM_005502.4(ABCA1):c.1978G>A (p.Val660Met)
NM_005502.4(ABCA1):c.1978G>T (p.Val660Leu)
NM_005502.4(ABCA1):c.2001G>C (p.Leu667=)
NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)
NM_005502.4(ABCA1):c.2010C>G (p.Thr670=)
NM_005502.4(ABCA1):c.201T>A (p.Leu67=)
NM_005502.4(ABCA1):c.2020A>C (p.Met674Leu)
NM_005502.4(ABCA1):c.2021T>A (p.Met674Lys)
NM_005502.4(ABCA1):c.2034C>T (p.Asn678=)
NM_005502.4(ABCA1):c.2043C>G (p.Leu681=)
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
NM_005502.4(ABCA1):c.2077CTT[1] (p.Leu694del) rs387906412
NM_005502.4(ABCA1):c.2098C>T (p.Leu700=)
NM_005502.4(ABCA1):c.2109C>T (p.Ile703=)
NM_005502.4(ABCA1):c.2115+18G>A
NM_005502.4(ABCA1):c.2115+84del rs559207960
NM_005502.4(ABCA1):c.2116-16G>A rs376099791
NM_005502.4(ABCA1):c.2128C>T (p.Leu710=)
NM_005502.4(ABCA1):c.2130G>C (p.Leu710=) rs2118992109
NM_005502.4(ABCA1):c.2135A>T (p.Tyr712Phe)
NM_005502.4(ABCA1):c.2143C>A (p.Pro715Thr) rs886063312
NM_005502.4(ABCA1):c.2148C>T (p.Ser716=)
NM_005502.4(ABCA1):c.2149G>A (p.Val717Met)
NM_005502.4(ABCA1):c.2169C>T (p.Ser723=)
NM_005502.4(ABCA1):c.2170G>A (p.Val724Met)
NM_005502.4(ABCA1):c.2181G>T (p.Val727=)
NM_005502.4(ABCA1):c.2186C>T (p.Thr729Ile)
NM_005502.4(ABCA1):c.2190C>A (p.Ile730=)
NM_005502.4(ABCA1):c.2191C>T (p.Leu731=)
NM_005502.4(ABCA1):c.2217C>A (p.Leu739=)
NM_005502.4(ABCA1):c.2217C>G (p.Leu739=)
NM_005502.4(ABCA1):c.2223C>T (p.Ser741=)
NM_005502.4(ABCA1):c.2233C>G (p.Leu745Val)
NM_005502.4(ABCA1):c.2246G>T (p.Cys749Phe) rs1260761006
NM_005502.4(ABCA1):c.2249G>A (p.Gly750Glu)
NM_005502.4(ABCA1):c.2268G>A (p.Thr756=)
NM_005502.4(ABCA1):c.228T>C (p.Asn76=)
NM_005502.4(ABCA1):c.2296G>T (p.Ala766Ser)
NM_005502.4(ABCA1):c.2311G>A (p.Val771Met) rs2066718
NM_005502.4(ABCA1):c.2311G>C (p.Val771Leu) rs2066718
NM_005502.4(ABCA1):c.2315G>A (p.Gly772Asp)
NM_005502.4(ABCA1):c.2315G>C (p.Gly772Ala)
NM_005502.4(ABCA1):c.2324T>A (p.Leu775His)
NM_005502.4(ABCA1):c.2334C>T (p.Phe778=)
NM_005502.4(ABCA1):c.2335G>A (p.Ala779Thr)
NM_005502.4(ABCA1):c.2337+13G>A
NM_005502.4(ABCA1):c.2337+8C>A rs886063311
NM_005502.4(ABCA1):c.2338-11G>T
NM_005502.4(ABCA1):c.2338-3_2338-2del rs780742201
NM_005502.4(ABCA1):c.234C>T (p.Asn78=)
NM_005502.4(ABCA1):c.2352T>G (p.Pro784=)
NM_005502.4(ABCA1):c.2359T>G (p.Phe787Val)
NM_005502.4(ABCA1):c.2364G>A (p.Gly788=)
NM_005502.4(ABCA1):c.2364G>T (p.Gly788=)
NM_005502.4(ABCA1):c.2382T>C (p.Phe794=)
NM_005502.4(ABCA1):c.2402G>A (p.Gly801Asp) rs2118988044
NM_005502.4(ABCA1):c.2409A>C (p.Gly803=)
NM_005502.4(ABCA1):c.2419G>A (p.Asp807Asn)
NM_005502.4(ABCA1):c.243T>C (p.Cys81=)
NM_005502.4(ABCA1):c.2459A>G (p.Asn820Ser)
NM_005502.4(ABCA1):c.2471C>T (p.Ser824Leu)
NM_005502.4(ABCA1):c.2472G>A (p.Ser824=) rs533413438
NM_005502.4(ABCA1):c.2472G>T (p.Ser824=)
NM_005502.4(ABCA1):c.2478C>T (p.Ser826=)
NM_005502.4(ABCA1):c.2479A>G (p.Met827Val)
NM_005502.4(ABCA1):c.2479A>T (p.Met827Leu)
NM_005502.4(ABCA1):c.253C>T (p.Pro85Ser) rs2119176197
NM_005502.4(ABCA1):c.2543-18C>T
NM_005502.4(ABCA1):c.2543-20dup
NM_005502.4(ABCA1):c.2550C>T (p.Tyr850=)
NM_005502.4(ABCA1):c.2557C>T (p.Pro853Ser) rs1159795276
NM_005502.4(ABCA1):c.2562G>A (p.Arg854=)
NM_005502.4(ABCA1):c.2562G>T (p.Arg854Ser)
NM_005502.4(ABCA1):c.2599G>A (p.Gly867Ser)
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=) rs1482520924
NM_005502.4(ABCA1):c.2647A>G (p.Ile883Val)
NM_005502.4(ABCA1):c.2656+15C>T
NM_005502.4(ABCA1):c.2656+222_2656+225del rs56083895
NM_005502.4(ABCA1):c.2656+7G>A
NM_005502.4(ABCA1):c.2657-15T>C
NM_005502.4(ABCA1):c.2657-17C>T
NM_005502.4(ABCA1):c.2657-68C>G rs3818689
NM_005502.4(ABCA1):c.2657-75G>A rs12344156
NM_005502.4(ABCA1):c.2663T>G (p.Met888Arg)
NM_005502.4(ABCA1):c.2679C>T (p.Thr893=)
NM_005502.4(ABCA1):c.2697G>A (p.Val899=)
NM_005502.4(ABCA1):c.2724C>T (p.Tyr908=)
NM_005502.4(ABCA1):c.2725del (p.Arg909fs) rs1554714092
NM_005502.4(ABCA1):c.2736G>A (p.Met912Ile)
NM_005502.4(ABCA1):c.273C>T (p.Pro91=)
NM_005502.4(ABCA1):c.2748C>T (p.Val916=)
NM_005502.4(ABCA1):c.2799C>T (p.Gly933=)
NM_005502.4(ABCA1):c.2803A>C (p.Asn935His) rs28937314
NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp) rs28937314
NM_005502.4(ABCA1):c.2811G>C (p.Ala937=) rs147290375
NM_005502.4(ABCA1):c.2819C>T (p.Thr940Met)
NM_005502.4(ABCA1):c.2820G>A (p.Thr940=)
NM_005502.4(ABCA1):c.2820G>T (p.Thr940=)
NM_005502.4(ABCA1):c.2823C>T (p.Thr941=)
NM_005502.4(ABCA1):c.2828+14_2828+18del
NM_005502.4(ABCA1):c.2829-18C>T
NM_005502.4(ABCA1):c.2841C>T (p.Thr947=)
NM_005502.4(ABCA1):c.2848T>C (p.Phe950Leu)
NM_005502.4(ABCA1):c.2850C>T (p.Phe950=)
NM_005502.4(ABCA1):c.2855C>T (p.Pro952Leu)
NM_005502.4(ABCA1):c.2855del (p.Pro952fs)
NM_005502.4(ABCA1):c.2856G>A (p.Pro952=)
NM_005502.4(ABCA1):c.2859C>T (p.Thr953=)
NM_005502.4(ABCA1):c.2861C>T (p.Ser954Leu)
NM_005502.4(ABCA1):c.2865C>G (p.Gly955=)
NM_005502.4(ABCA1):c.2865C>T (p.Gly955=)
NM_005502.4(ABCA1):c.2869G>A (p.Ala957Thr)
NM_005502.4(ABCA1):c.2871C>T (p.Ala957=)
NM_005502.4(ABCA1):c.2872T>C (p.Tyr958His)
NM_005502.4(ABCA1):c.2877C>T (p.Ile959=)
NM_005502.4(ABCA1):c.2879T>C (p.Leu960Pro)
NM_005502.4(ABCA1):c.2880G>A (p.Leu960=)
NM_005502.4(ABCA1):c.288C>T (p.Asn96=)
NM_005502.4(ABCA1):c.2897C>G (p.Ser966Cys)
NM_005502.4(ABCA1):c.28C>T (p.Leu10=)
NM_005502.4(ABCA1):c.2904G>A (p.Met968Ile) rs2118972241
NM_005502.4(ABCA1):c.2904G>T (p.Met968Ile) rs2118972241
NM_005502.4(ABCA1):c.2928G>A (p.Gly976=)
NM_005502.4(ABCA1):c.2940G>A (p.Gln980=)
NM_005502.4(ABCA1):c.2946C>T (p.Asn982=)
NM_005502.4(ABCA1):c.2961-11C>A
NM_005502.4(ABCA1):c.2961-5C>T
NM_005502.4(ABCA1):c.2964G>A (p.Leu988=) rs2118966654
NM_005502.4(ABCA1):c.2976A>G (p.Glu992=)
NM_005502.4(ABCA1):c.2988C>G (p.Phe996Leu) rs886063310
NM_005502.4(ABCA1):c.2995C>G (p.Arg999Gly) rs138735406
NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)
NM_005502.4(ABCA1):c.2996G>T (p.Arg999Leu)
NM_005502.4(ABCA1):c.3006G>A (p.Gly1002=)
NM_005502.4(ABCA1):c.302+1G>A rs1838970198
NM_005502.4(ABCA1):c.302+5G>A
NM_005502.4(ABCA1):c.3021C>T (p.His1007=)
NM_005502.4(ABCA1):c.3022G>A (p.Val1008Met)
NM_005502.4(ABCA1):c.303-18T>A
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.303-9C>G
NM_005502.4(ABCA1):c.3030G>A (p.Ala1010=)
NM_005502.4(ABCA1):c.3036G>A (p.Met1012Ile)
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=) rs2118966484
NM_005502.4(ABCA1):c.3049C>T (p.Leu1017=)
NM_005502.4(ABCA1):c.3055G>A (p.Val1019Ile)
NM_005502.4(ABCA1):c.3066A>G (p.Pro1022=)
NM_005502.4(ABCA1):c.3081A>C (p.Lys1027Asn)
NM_005502.4(ABCA1):c.3089C>T (p.Thr1030Ile)
NM_005502.4(ABCA1):c.3103+1G>C
NM_005502.4(ABCA1):c.3103+9del rs2118966233
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.3123A>G (p.Leu1041=)
NM_005502.4(ABCA1):c.3124T>C (p.Ser1042Pro)
NM_005502.4(ABCA1):c.3144C>A (p.Val1048=)
NM_005502.4(ABCA1):c.3149G>T (p.Gly1050Val)
NM_005502.4(ABCA1):c.3180A>G (p.Thr1060=)
NM_005502.4(ABCA1):c.319T>G (p.Ser107Ala)
NM_005502.4(ABCA1):c.3202C>G (p.Arg1068Gly)
NM_005502.4(ABCA1):c.3215G>A (p.Trp1072Ter) rs1450125094
NM_005502.4(ABCA1):c.3234C>T (p.Tyr1078=)
NM_005502.4(ABCA1):c.3241+118T>G rs2254884
NM_005502.4(ABCA1):c.3241+51del rs555252993
NM_005502.4(ABCA1):c.3241+5C>T
NM_005502.4(ABCA1):c.3241+7G>A
NM_005502.4(ABCA1):c.3249C>G (p.Thr1083=)
NM_005502.4(ABCA1):c.3258C>G (p.Leu1086=)
NM_005502.4(ABCA1):c.325G>A (p.Ala109Thr)
NM_005502.4(ABCA1):c.3270C>T (p.His1090=)
NM_005502.4(ABCA1):c.3281C>T (p.Ala1094Val)
NM_005502.4(ABCA1):c.3282G>A (p.Ala1094=)
NM_005502.4(ABCA1):c.3285C>T (p.Asp1095=)
NM_005502.4(ABCA1):c.3288C>T (p.Val1096=)
NM_005502.4(ABCA1):c.328C>T (p.Arg110Trp)
NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr) rs28933692
NM_005502.4(ABCA1):c.3316C>T (p.His1106Tyr)
NM_005502.4(ABCA1):c.3330C>G (p.Cys1110Trp) rs886063309
NM_005502.4(ABCA1):c.3343_3344del (p.Ser1115fs) rs387906414
NM_005502.4(ABCA1):c.3366G>A (p.Leu1122=) rs2118961732
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3370A>G (p.Thr1124Ala)
NM_005502.4(ABCA1):c.3406G>A (p.Glu1136Lys)
NM_005502.4(ABCA1):c.3408A>C (p.Glu1136Asp)
NM_005502.4(ABCA1):c.3409TCC[3] (p.Ser1138_Leu1139insSer)
NM_005502.4(ABCA1):c.3411C>T (p.Ser1137=)
NM_005502.4(ABCA1):c.3441C>T (p.Ser1147=)
NM_005502.4(ABCA1):c.3450A>G (p.Ser1150=)
NM_005502.4(ABCA1):c.345C>T (p.Tyr115=)
NM_005502.4(ABCA1):c.3462+4A>G
NM_005502.4(ABCA1):c.3462+510A>G
NM_005502.4(ABCA1):c.3470G>C (p.Ser1157Thr)
NM_005502.4(ABCA1):c.3497G>C (p.Gly1166Ala)
NM_005502.4(ABCA1):c.3499C>A (p.Leu1167Met)
NM_005502.4(ABCA1):c.3504C>G (p.Gly1168=)
NM_005502.4(ABCA1):c.3504C>T (p.Gly1168=)
NM_005502.4(ABCA1):c.3525G>A (p.Thr1175=)
NM_005502.4(ABCA1):c.352A>G (p.Lys118Glu) rs753703009
NM_005502.4(ABCA1):c.3535G>A (p.Asp1179Asn)
NM_005502.4(ABCA1):c.3536-10G>T
NM_005502.4(ABCA1):c.3536-4G>A
NM_005502.4(ABCA1):c.3536-6C>T
NM_005502.4(ABCA1):c.3545C>T (p.Ala1182Val)
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
NM_005502.4(ABCA1):c.357C>T (p.Asp119=)
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
NM_005502.4(ABCA1):c.3585G>C (p.Arg1195=) rs746126743
NM_005502.4(ABCA1):c.3589G>A (p.Val1197Met) rs2118952191
NM_005502.4(ABCA1):c.3594A>C (p.Glu1198Asp)
NM_005502.4(ABCA1):c.3605A>G (p.His1202Arg)
NM_005502.4(ABCA1):c.3606T>C (p.His1202=)
NM_005502.4(ABCA1):c.3609G>A (p.Glu1203=)
NM_005502.4(ABCA1):c.3626C>T (p.Pro1209Leu)
NM_005502.4(ABCA1):c.3627A>G (p.Pro1209=)
NM_005502.4(ABCA1):c.362G>C (p.Ser121Thr)
NM_005502.4(ABCA1):c.3635C>G (p.Ala1212Gly)
NM_005502.4(ABCA1):c.3649G>A (p.Ala1217Thr)
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
NM_005502.4(ABCA1):c.3655G>T (p.Val1219Leu) rs1209484368
NM_005502.4(ABCA1):c.3679G>A (p.Asp1227Asn)
NM_005502.4(ABCA1):c.3683G>A (p.Arg1228Gln)
NM_005502.4(ABCA1):c.3687C>T (p.Leu1229=)
NM_005502.4(ABCA1):c.3692A>G (p.Asp1231Gly)
NM_005502.4(ABCA1):c.3694C>T (p.Leu1232=)
NM_005502.4(ABCA1):c.3738+1G>C rs796051872
NM_005502.4(ABCA1):c.3738+7T>C rs1266093689
NM_005502.4(ABCA1):c.3756C>G (p.Ala1252=)
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
NM_005502.4(ABCA1):c.3759A>G (p.Glu1253=)
NM_005502.4(ABCA1):c.3771G>A (p.Val1257=)
NM_005502.4(ABCA1):c.3775G>A (p.Ala1259Thr) rs2118944212
NM_005502.4(ABCA1):c.3787+1G>A
NM_005502.4(ABCA1):c.3788-13C>T
NM_005502.4(ABCA1):c.3788-19del
NM_005502.4(ABCA1):c.3788-4T>A rs1831529158
NM_005502.4(ABCA1):c.3788-7C>A
NM_005502.4(ABCA1):c.3788-8G>T
NM_005502.4(ABCA1):c.3790G>A (p.Gly1264Ser)
NM_005502.4(ABCA1):c.3815G>A (p.Arg1272Lys) rs2118943294
NM_005502.4(ABCA1):c.3825C>T (p.Phe1275=)
NM_005502.4(ABCA1):c.3833A>G (p.Lys1278Arg) rs886063308
NM_005502.4(ABCA1):c.3847C>T (p.Arg1283Cys)
NM_005502.4(ABCA1):c.3848G>A (p.Arg1283His)
NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs) rs387906415
NM_005502.4(ABCA1):c.3852G>A (p.Pro1284=)
NM_005502.4(ABCA1):c.3852G>T (p.Pro1284=)
NM_005502.4(ABCA1):c.3856A>G (p.Thr1286Ala)
NM_005502.4(ABCA1):c.3863A>G (p.Asp1288Gly) rs1300816547
NM_005502.4(ABCA1):c.3864T>C (p.Asp1288=)
NM_005502.4(ABCA1):c.3866A>G (p.Asp1289Gly)
NM_005502.4(ABCA1):c.3879A>G (p.Pro1293=)
NM_005502.4(ABCA1):c.388A>C (p.Arg130=)
NM_005502.4(ABCA1):c.3892A>T (p.Ile1298Leu)
NM_005502.4(ABCA1):c.3897C>T (p.Asp1299=)
NM_005502.4(ABCA1):c.3907A>G (p.Arg1303Gly)
NM_005502.4(ABCA1):c.3912G>T (p.Glu1304Asp)
NM_005502.4(ABCA1):c.3925A>G (p.Ser1309Gly)
NM_005502.4(ABCA1):c.3930G>A (p.Gly1310=)
NM_005502.4(ABCA1):c.393A>G (p.Thr131=)
NM_005502.4(ABCA1):c.3945G>T (p.Gly1315=) rs35545593
NM_005502.4(ABCA1):c.3973A>G (p.Thr1325Ala)
NM_005502.4(ABCA1):c.3975A>G (p.Thr1325=)
NM_005502.4(ABCA1):c.3985T>G (p.Phe1329Val) rs886063307
NM_005502.4(ABCA1):c.398A>C (p.Gln133Pro)
NM_005502.4(ABCA1):c.3994C>G (p.Leu1332Val)
NM_005502.4(ABCA1):c.4017T>C (p.Ile1339=)
NM_005502.4(ABCA1):c.4031G>A (p.Arg1344Gln)
NM_005502.4(ABCA1):c.4039T>C (p.Phe1347Leu) rs769840742
NM_005502.4(ABCA1):c.4050+19G>A rs375977722
NM_005502.4(ABCA1):c.4050+7C>T
NM_005502.4(ABCA1):c.409A>G (p.Lys137Glu)
NM_005502.4(ABCA1):c.412T>C (p.Ser138Pro)
NM_005502.4(ABCA1):c.4158A>G (p.Glu1386=) rs886063306
NM_005502.4(ABCA1):c.4167A>G (p.Thr1389=) rs2118930238
NM_005502.4(ABCA1):c.4175+17C>T
NM_005502.4(ABCA1):c.4175+18A>G
NM_005502.4(ABCA1):c.4175+31G>A rs41354653
NM_005502.4(ABCA1):c.4175+4T>A rs753735723
NM_005502.4(ABCA1):c.4176-5C>T
NM_005502.4(ABCA1):c.4186C>T (p.Pro1396Ser) rs2118925023
NM_005502.4(ABCA1):c.4187C>T (p.Pro1396Leu)
NM_005502.4(ABCA1):c.4189G>A (p.Glu1397Lys)
NM_005502.4(ABCA1):c.4202C>T (p.Thr1401Ile)
NM_005502.4(ABCA1):c.4208A>G (p.Glu1403Gly)
NM_005502.4(ABCA1):c.4218C>A (p.Asn1406Lys)
NM_005502.4(ABCA1):c.4218C>G (p.Asn1406Lys)
NM_005502.4(ABCA1):c.4219G>A (p.Ala1407Thr)
NM_005502.4(ABCA1):c.422-275GT[14] rs35010837
NM_005502.4(ABCA1):c.422-275GT[15] rs35010837
NM_005502.4(ABCA1):c.422-43del rs34203904
NM_005502.4(ABCA1):c.4227C>T (p.Thr1409=)
NM_005502.4(ABCA1):c.4242C>T (p.Phe1414=)
NM_005502.4(ABCA1):c.4243G>A (p.Gly1415Arg)
NM_005502.4(ABCA1):c.4274+10A>C
NM_005502.4(ABCA1):c.4274+1G>A
NM_005502.4(ABCA1):c.4275-17C>A
NM_005502.4(ABCA1):c.4275-225A>C rs79617159
NM_005502.4(ABCA1):c.4281G>C (p.Thr1427=)
NM_005502.4(ABCA1):c.4287C>T (p.Cys1429=) rs769646176
NM_005502.4(ABCA1):c.4290G>A (p.Gln1430=)
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
NM_005502.4(ABCA1):c.4302A>G (p.Glu1434=)
NM_005502.4(ABCA1):c.4317C>T (p.Ala1439=)
NM_005502.4(ABCA1):c.4323T>C (p.Val1441=)
NM_005502.4(ABCA1):c.4324C>A (p.Pro1442Thr) rs757802013
NM_005502.4(ABCA1):c.4332C>T (p.Thr1444=)
NM_005502.4(ABCA1):c.4341C>T (p.Asp1447=)
NM_005502.4(ABCA1):c.4347_4348del (p.Phe1449fs) rs2118912529
NM_005502.4(ABCA1):c.4357A>G (p.Asn1453Asp) rs1830762964
NM_005502.4(ABCA1):c.4365A>G (p.Thr1455=)
NM_005502.4(ABCA1):c.4369C>G (p.Gln1457Glu)
NM_005502.4(ABCA1):c.4373A>G (p.Asn1458Ser)
NM_005502.4(ABCA1):c.4377T>C (p.Pro1459=)
NM_005502.4(ABCA1):c.4381C>T (p.Pro1461Ser)
NM_005502.4(ABCA1):c.4385C>T (p.Ala1462Val)
NM_005502.4(ABCA1):c.4402G>T (p.Asp1468Tyr)
NM_005502.4(ABCA1):c.4410C>A (p.Ile1470=)
NM_005502.4(ABCA1):c.4416G>T (p.Lys1472Asn)
NM_005502.4(ABCA1):c.4422G>T (p.Leu1474=)
NM_005502.4(ABCA1):c.4426G>C (p.Val1476Leu) rs1164353101
NM_005502.4(ABCA1):c.4433C>T (p.Pro1478Leu)
NM_005502.4(ABCA1):c.4438G>A (p.Gly1480Arg)
NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)
NM_005502.4(ABCA1):c.4449del (p.Leu1484fs)
NM_005502.4(ABCA1):c.4464+118GTTTTTT[3] rs367717603
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.4464+19G>T
NM_005502.4(ABCA1):c.4464+19del
NM_005502.4(ABCA1):c.4464+398C>T
NM_005502.4(ABCA1):c.446T>G (p.Val149Gly) rs2119105512
NM_005502.4(ABCA1):c.4471C>G (p.Gln1491Glu)
NM_005502.4(ABCA1):c.4488C>A (p.Ile1496=)
NM_005502.4(ABCA1):c.4491T>G (p.Leu1497=)
NM_005502.4(ABCA1):c.4505G>A (p.Gly1502Glu)
NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu) rs137854497
NM_005502.4(ABCA1):c.4518G>A (p.Ser1506=)
NM_005502.4(ABCA1):c.4527G>A (p.Leu1509=)
NM_005502.4(ABCA1):c.4536G>A (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4536G>T (p.Thr1512=) rs41277763
NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter)
NM_005502.4(ABCA1):c.4539T>C (p.Tyr1513=)
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.4559+9_4559+10del
NM_005502.4(ABCA1):c.4575C>A (p.Ile1525=)
NM_005502.4(ABCA1):c.4587G>A (p.Glu1529=)
NM_005502.4(ABCA1):c.458C>A (p.Thr153Asn) rs1836411504
NM_005502.4(ABCA1):c.4592+16T>A
NM_005502.4(ABCA1):c.4592+9C>T
NM_005502.4(ABCA1):c.4593-132_4593-131del rs3831227
NM_005502.4(ABCA1):c.4593-18G>A
NM_005502.4(ABCA1):c.4593G>A (p.Arg1531=)
NM_005502.4(ABCA1):c.4599C>T (p.Gly1533=)
NM_005502.4(ABCA1):c.459C>T (p.Thr153=)
NM_005502.4(ABCA1):c.4602C>T (p.Gly1534=)
NM_005502.4(ABCA1):c.4613G>T (p.Gly1538Val) rs1830392118
NM_005502.4(ABCA1):c.4629A>G (p.Gln1543=)
NM_005502.4(ABCA1):c.4629A>T (p.Gln1543His) rs1195526722
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
NM_005502.4(ABCA1):c.4641G>A (p.Pro1547=)
NM_005502.4(ABCA1):c.464C>G (p.Ser155Cys)
NM_005502.4(ABCA1):c.4654A>T (p.Asn1552Tyr)
NM_005502.4(ABCA1):c.4659T>A (p.Asp1553Glu)
NM_005502.4(ABCA1):c.4665C>G (p.Ile1555Met)
NM_005502.4(ABCA1):c.4675A>C (p.Lys1559Gln)
NM_005502.4(ABCA1):c.467G>T (p.Gly156Val)
NM_005502.4(ABCA1):c.4698+12A>G
NM_005502.4(ABCA1):c.4698+14C>G rs550787183
NM_005502.4(ABCA1):c.4698+8A>G rs1830384063
NM_005502.4(ABCA1):c.4698G>C (p.Lys1566Asn)
NM_005502.4(ABCA1):c.472C>T (p.Leu158=)
NM_005502.4(ABCA1):c.473T>G (p.Leu158Arg) rs2119105441
NM_005502.4(ABCA1):c.474G>C (p.Leu158=) rs2230805
NM_005502.4(ABCA1):c.4754A>G (p.Asp1585Gly)
NM_005502.4(ABCA1):c.4759A>C (p.Lys1587Gln)
NM_005502.4(ABCA1):c.4774-14A>G
NM_005502.4(ABCA1):c.4774-156G>C rs115070072
NM_005502.4(ABCA1):c.4774-17G>A rs202067417
NM_005502.4(ABCA1):c.4774-20C>G rs377626098
NM_005502.4(ABCA1):c.4774-3C>G
NM_005502.4(ABCA1):c.4799A>T (p.His1600Leu) rs1554704214
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr) rs1030058509
NM_005502.4(ABCA1):c.4825A>G (p.Ile1609Val)
NM_005502.4(ABCA1):c.4829A>G (p.Asn1610Ser)
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.4864_4867dup (p.Asn1623fs)
NM_005502.4(ABCA1):c.4875C>T (p.Ser1625=)
NM_005502.4(ABCA1):c.4876C>T (p.His1626Tyr)
NM_005502.4(ABCA1):c.4905C>T (p.Pro1635=)
NM_005502.4(ABCA1):c.4912C>T (p.Leu1638Phe)
NM_005502.4(ABCA1):c.4935G>A (p.Glu1645=)
NM_005502.4(ABCA1):c.4936G>A (p.Val1646Met) rs2118890064
NM_005502.4(ABCA1):c.4943+6T>A rs2118890017
NM_005502.4(ABCA1):c.4944-15G>A
NM_005502.4(ABCA1):c.4944-15G>C
NM_005502.4(ABCA1):c.4944-16C>T
NM_005502.4(ABCA1):c.4944-18C>T
NM_005502.4(ABCA1):c.4959G>A (p.Val1653=)
NM_005502.4(ABCA1):c.4975A>G (p.Ile1659Val)
NM_005502.4(ABCA1):c.4991C>T (p.Ala1664Val)
NM_005502.4(ABCA1):c.4993A>G (p.Met1665Val)
NM_005502.4(ABCA1):c.5010C>T (p.Ala1670=)
NM_005502.4(ABCA1):c.5024T>A (p.Phe1675Tyr)
NM_005502.4(ABCA1):c.5028G>A (p.Leu1676=)
NM_005502.4(ABCA1):c.5037G>A (p.Glu1679=)
NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp) rs137854498
NM_005502.4(ABCA1):c.5044A>C (p.Ser1682Arg) rs2118884664
NM_005502.4(ABCA1):c.5046C>A (p.Ser1682Arg)
NM_005502.4(ABCA1):c.5060T>A (p.Leu1687Gln)
NM_005502.4(ABCA1):c.5066T>A (p.Phe1689Tyr)
NM_005502.4(ABCA1):c.5079G>A (p.Val1693=)
NM_005502.4(ABCA1):c.5088C>T (p.Val1696=)
NM_005502.4(ABCA1):c.5094C>T (p.Tyr1698=)
NM_005502.4(ABCA1):c.5109T>C (p.Phe1703=)
NM_005502.4(ABCA1):c.5121+14C>T
NM_005502.4(ABCA1):c.5121+17G>A
NM_005502.4(ABCA1):c.5122-14G>C
NM_005502.4(ABCA1):c.5130C>T (p.Tyr1710=)
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val) rs1829900481
NM_005502.4(ABCA1):c.5201A>G (p.Asn1734Ser) rs1829897192
NM_005502.4(ABCA1):c.5223A>C (p.Leu1741=)
NM_005502.4(ABCA1):c.5230C>T (p.Leu1744=)
NM_005502.4(ABCA1):c.5237+3A>C rs1440948694
NM_005502.4(ABCA1):c.5237+6T>C rs1829894121
NM_005502.4(ABCA1):c.5238-18C>T
NM_005502.4(ABCA1):c.5256C>T (p.Leu1752=)
NM_005502.4(ABCA1):c.5271C>T (p.Ser1757=) rs2118875728
NM_005502.4(ABCA1):c.528T>A (p.Asp176Glu)
NM_005502.4(ABCA1):c.5299T>G (p.Tyr1767Asp) rs1312399680
NM_005502.4(ABCA1):c.5313C>T (p.Thr1771=)
NM_005502.4(ABCA1):c.5317G>A (p.Val1773Met)
NM_005502.4(ABCA1):c.531C>G (p.Val177=)
NM_005502.4(ABCA1):c.5325C>T (p.Leu1775=)
NM_005502.4(ABCA1):c.5346C>T (p.Ser1782=)
NM_005502.4(ABCA1):c.5347G>T (p.Val1783Leu) rs780534377
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala) rs1176498235
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
NM_005502.4(ABCA1):c.537C>G (p.Leu179=)
NM_005502.4(ABCA1):c.5382+4A>G
NM_005502.4(ABCA1):c.5383-189A>G rs138879566
NM_005502.4(ABCA1):c.5383-20_5383-15dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-16dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-17dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-19dup rs77663187
NM_005502.4(ABCA1):c.5383-20dup rs77663187
NM_005502.4(ABCA1):c.5383-3T>C
NM_005502.4(ABCA1):c.5383-3del rs77663187
NM_005502.4(ABCA1):c.5383-4_5383-3del rs77663187
NM_005502.4(ABCA1):c.5397C>A (p.Ile1799=)
NM_005502.4(ABCA1):c.5400T>C (p.Asn1800=) rs2118869377
NM_005502.4(ABCA1):c.5406C>A (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=) rs141980942
NM_005502.4(ABCA1):c.5409G>A (p.Leu1803=)
NM_005502.4(ABCA1):c.5415C>T (p.Ser1805=)
NM_005502.4(ABCA1):c.5418G>A (p.Val1806=) rs1564086475
NM_005502.4(ABCA1):c.543+20T>C
NM_005502.4(ABCA1):c.543+210A>C rs2487059
NM_005502.4(ABCA1):c.544-119C>A rs77943163
NM_005502.4(ABCA1):c.5464A>G (p.Met1822Val)
NM_005502.4(ABCA1):c.5468T>G (p.Val1823Gly)
NM_005502.4(ABCA1):c.5470A>G (p.Lys1824Glu)
NM_005502.4(ABCA1):c.5475C>A (p.Asn1825Lys)
NM_005502.4(ABCA1):c.5493C>G (p.Ala1831=)
NM_005502.4(ABCA1):c.5496G>A (p.Leu1832=)
NM_005502.4(ABCA1):c.5502G>T (p.Arg1834Ser)
NM_005502.4(ABCA1):c.5506+7G>A
NM_005502.4(ABCA1):c.5507-130G>C rs4149327
NM_005502.4(ABCA1):c.5511G>A (p.Glu1837=)
NM_005502.4(ABCA1):c.5520T>C (p.Phe1840=)
NM_005502.4(ABCA1):c.5520del (p.Phe1840fs) rs2118864687
NM_005502.4(ABCA1):c.5526A>G (p.Ser1842=)
NM_005502.4(ABCA1):c.5551C>T (p.Arg1851Ter) rs1262486352
NM_005502.4(ABCA1):c.5562C>T (p.Phe1854=)
NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser) rs766712712
NM_005502.4(ABCA1):c.5565C>T (p.Ala1855=)
NM_005502.4(ABCA1):c.5571C>G (p.Ala1857=)
NM_005502.4(ABCA1):c.5571C>T (p.Ala1857=)
NM_005502.4(ABCA1):c.5593C>G (p.Leu1865Val) rs1322059898
NM_005502.4(ABCA1):c.5595C>T (p.Leu1865=)
NM_005502.4(ABCA1):c.5602G>A (p.Val1868Ile) rs1829582499
NM_005502.4(ABCA1):c.5606T>G (p.Leu1869Arg)
NM_005502.4(ABCA1):c.5610C>A (p.Ile1870=)
NM_005502.4(ABCA1):c.5628C>T (p.Ile1876=)
NM_005502.4(ABCA1):c.5636+12C>T
NM_005502.4(ABCA1):c.5636+18_5636+30del
NM_005502.4(ABCA1):c.5636+1G>A
NM_005502.4(ABCA1):c.5637-4del rs143321497
NM_005502.4(ABCA1):c.5637-9dup
NM_005502.4(ABCA1):c.5641G>A (p.Val1881Ile)
NM_005502.4(ABCA1):c.5655A>C (p.Leu1885=)
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.5662C>G (p.Leu1888Val)
NM_005502.4(ABCA1):c.5689C>T (p.Arg1897Trp)
NM_005502.4(ABCA1):c.5698C>G (p.Gln1900Glu)
NM_005502.4(ABCA1):c.5709T>C (p.Leu1903=)
NM_005502.4(ABCA1):c.5715T>G (p.Gly1905=)
NM_005502.4(ABCA1):c.5753C>T (p.Thr1918Met)
NM_005502.4(ABCA1):c.5754G>A (p.Thr1918=)
NM_005502.4(ABCA1):c.5757+239A>C rs4149328
NM_005502.4(ABCA1):c.5758-137C>T rs74712259
NM_005502.4(ABCA1):c.5758-13T>G
NM_005502.4(ABCA1):c.5758-18A>T rs2118859582
NM_005502.4(ABCA1):c.5758-6T>C
NM_005502.4(ABCA1):c.5758-8T>G rs1829469697
NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)
NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
NM_005502.4(ABCA1):c.5785G>T (p.Val1929Phe)
NM_005502.4(ABCA1):c.5799C>T (p.Cys1933=)
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
NM_005502.4(ABCA1):c.580C>T (p.Leu194=)
NM_005502.4(ABCA1):c.5813C>T (p.Pro1938Leu) rs868096941
NM_005502.4(ABCA1):c.5821-7T>C
NM_005502.4(ABCA1):c.5852G>A (p.Gly1951Glu)
NM_005502.4(ABCA1):c.5879C>T (p.Thr1960Ile)
NM_005502.4(ABCA1):c.5888C>A (p.Thr1963Asn) rs2118855231
NM_005502.4(ABCA1):c.5912T>C (p.Phe1971Ser)
NM_005502.4(ABCA1):c.5924A>G (p.Asn1975Ser)
NM_005502.4(ABCA1):c.5925T>C (p.Asn1975=)
NM_005502.4(ABCA1):c.5927+3G>A rs781652820
NM_005502.4(ABCA1):c.607A>G (p.Met203Val)
NM_005502.4(ABCA1):c.610A>T (p.Ile204Phe)
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
NM_005502.4(ABCA1):c.615A>G (p.Gln205=) rs1363470696
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)
NM_005502.4(ABCA1):c.66+20C>T
NM_005502.4(ABCA1):c.66+23C>T
NM_005502.4(ABCA1):c.664C>A (p.Leu222Met)
NM_005502.4(ABCA1):c.669T>C (p.Ala223=)
NM_005502.4(ABCA1):c.671C>T (p.Ala224Val)
NM_005502.4(ABCA1):c.700G>T (p.Asp234Tyr)
NM_005502.4(ABCA1):c.712C>G (p.Pro238Ala)
NM_005502.4(ABCA1):c.720+3681G>A
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.721-6T>C
NM_005502.4(ABCA1):c.73C>T (p.Leu25=)
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
NM_005502.4(ABCA1):c.750G>A (p.Pro250=)
NM_005502.4(ABCA1):c.752G>T (p.Ser251Ile)
NM_005502.4(ABCA1):c.753C>G (p.Ser251Arg)
NM_005502.4(ABCA1):c.75G>C (p.Leu25=)
NM_005502.4(ABCA1):c.778A>G (p.Thr260Ala)
NM_005502.4(ABCA1):c.784C>T (p.Leu262=)
NM_005502.4(ABCA1):c.793C>T (p.Leu265Phe)
NM_005502.4(ABCA1):c.806C>A (p.Ala269Asp) rs2119052412
NM_005502.4(ABCA1):c.813+10G>A
NM_005502.4(ABCA1):c.814-14A>G
NM_005502.4(ABCA1):c.814-4C>A
NM_005502.4(ABCA1):c.814-6C>T rs377680134
NM_005502.4(ABCA1):c.842T>C (p.Met281Thr) rs559110055
NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)
NM_005502.4(ABCA1):c.845G>A (p.Arg282Gln)
NM_005502.4(ABCA1):c.867C>G (p.Thr289=)
NM_005502.4(ABCA1):c.870T>C (p.Asn290=)
NM_005502.4(ABCA1):c.877A>G (p.Ser293Gly)
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
NM_005502.4(ABCA1):c.895C>G (p.Gln299Glu)
NM_005502.4(ABCA1):c.8G>T (p.Cys3Phe)
NM_005502.4(ABCA1):c.928G>A (p.Gly310Arg)
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser) rs1183201615
NM_005502.4(ABCA1):c.945G>A (p.Gly315=)
NM_005502.4(ABCA1):c.96T>G (p.Pro32=)
NM_005502.4(ABCA1):c.975del (p.Trp324_Tyr325insTer) rs2119034662
NM_005502.4(ABCA1):c.97C>T (p.Leu33=) rs886063313
NM_005502.4(ABCA1):c.981C>T (p.Asp327=)
NM_005502.4(ABCA1):c.984C>T (p.Asn328=)
NM_005502.4(ABCA1):c.993A>G (p.Lys331=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.