ClinVar Miner

List of variants in gene ABCA3 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 934
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.873+100T>A rs544363439 0.02377
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.1111+94G>A rs45474095 0.01832
NM_001089.3(ABCA3):c.613+167C>T rs184260155 0.01626
NM_001089.3(ABCA3):c.3484-204A>G rs78941105 0.01418
NM_001089.3(ABCA3):c.1742-83_1742-78del rs369986104 0.01408
NM_001089.3(ABCA3):c.873+179C>T rs147081676 0.01381
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_001089.3(ABCA3):c.4984-92C>G rs11860606 0.01354
NM_001089.3(ABCA3):c.320-322C>T rs45498297 0.01267
NM_001089.3(ABCA3):c.3279-255A>G rs45536034 0.01243
NM_001089.3(ABCA3):c.4983+257G>A rs45593836 0.01226
NM_001089.3(ABCA3):c.1612-173C>T rs45541437 0.01122
NM_001089.3(ABCA3):c.613+97G>T rs116821013 0.01065
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001089.3(ABCA3):c.613+40T>G rs45517732 0.01007
NM_001089.3(ABCA3):c.2264-268G>A rs114741109 0.00953
NM_001089.3(ABCA3):c.991-84G>A rs34465231 0.00934
NM_001089.3(ABCA3):c.2414+114C>T rs45483992 0.00930
NM_001089.3(ABCA3):c.614-298C>T rs143393181 0.00818
NM_001089.3(ABCA3):c.-26-251A>G rs45601336 0.00801
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001089.3(ABCA3):c.3863-28G>A rs143391325 0.00709
NM_001089.3(ABCA3):c.4035+54T>C rs114801340 0.00672
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.2053-65G>A rs147395547 0.00581
NM_001089.3(ABCA3):c.1111+58G>A rs45439892 0.00561
NM_001089.3(ABCA3):c.320-230A>G rs45460498 0.00415
NM_001089.3(ABCA3):c.320-80G>T rs45580733 0.00366
NM_001089.3(ABCA3):c.1467+71G>C rs79945458 0.00356
NM_001089.3(ABCA3):c.447+200C>T rs45542233 0.00346
NM_001089.3(ABCA3):c.54+51C>T rs34756902 0.00346
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00217
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) rs142584479 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939 0.00092
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595 0.00084
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) rs148662935 0.00083
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00080
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.822C>T (p.Thr274=) rs142073032 0.00076
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly) rs151078160 0.00063
NM_001089.3(ABCA3):c.1029C>T (p.Pro343=) rs34096526 0.00055
NM_001089.3(ABCA3):c.447+8G>A rs376429116 0.00054
NM_001089.3(ABCA3):c.5097C>T (p.Thr1699=) rs201641851 0.00039
NM_001089.3(ABCA3):c.3231C>T (p.Phe1077=) rs143240655 0.00029
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=) rs149208294 0.00024
NM_001089.3(ABCA3):c.2598C>T (p.Ser866=) rs369127242 0.00022
NM_001089.3(ABCA3):c.4359+14G>A rs372848304 0.00019
NM_001089.3(ABCA3):c.2241G>A (p.Ser747=) rs148046277 0.00016
NM_001089.3(ABCA3):c.2264-39G>A rs140541746 0.00016
NM_001089.3(ABCA3):c.5022C>T (p.Gly1674=) rs143176356 0.00016
NM_001089.3(ABCA3):c.4716C>T (p.His1572=) rs113705678 0.00015
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) rs377539769 0.00013
NM_001089.3(ABCA3):c.1989C>A (p.Arg663=) rs143947564 0.00011
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00011
NM_001089.3(ABCA3):c.4119G>A (p.Pro1373=) rs139975191 0.00011
NM_001089.3(ABCA3):c.747G>A (p.Pro249=) rs139952718 0.00011
NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser) rs202078936 0.00010
NM_001089.3(ABCA3):c.2052+7C>T rs376583358 0.00009
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569 0.00009
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00009
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=) rs373682740 0.00009
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610 0.00009
NM_001089.3(ABCA3):c.2994C>T (p.Arg998=) rs748766458 0.00008
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014 0.00008
NM_001089.3(ABCA3):c.3004+15G>A rs746070910 0.00007
NM_001089.3(ABCA3):c.4909+15C>T rs758683643 0.00007
NM_001089.3(ABCA3):c.1434C>T (p.Phe478=) rs199642666 0.00006
NM_001089.3(ABCA3):c.2415-4T>G rs201775187 0.00006
NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=) rs147917344 0.00006
NM_001089.3(ABCA3):c.75G>A (p.Thr25=) rs373150694 0.00006
NM_001089.3(ABCA3):c.3279-4G>A rs377007687 0.00005
NM_001089.3(ABCA3):c.846C>T (p.Val282=) rs149038393 0.00005
NM_001089.3(ABCA3):c.1131C>T (p.Phe377=) rs372074938 0.00004
NM_001089.3(ABCA3):c.1143C>G (p.Leu381=) rs766609184 0.00004
NM_001089.3(ABCA3):c.2679C>T (p.Thr893=) rs199885252 0.00004
NM_001089.3(ABCA3):c.4089C>T (p.Asp1363=) rs201762900 0.00004
NM_001089.3(ABCA3):c.4495C>T (p.Leu1499=) rs370726273 0.00004
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872 0.00004
NM_001089.3(ABCA3):c.762C>A (p.Pro254=) rs142938848 0.00004
NM_001089.3(ABCA3):c.942C>G (p.Leu314=) rs773723001 0.00004
NM_001089.3(ABCA3):c.1897-7G>A rs373611984 0.00003
NM_001089.3(ABCA3):c.765C>T (p.Phe255=) rs200087306 0.00003
NM_001089.3(ABCA3):c.1497G>A (p.Ala499=) rs368865276 0.00002
NM_001089.3(ABCA3):c.3540C>T (p.Asp1180=) rs753638942 0.00002
NM_001089.3(ABCA3):c.705C>T (p.Phe235=) rs753182174 0.00002
NM_001089.3(ABCA3):c.1612-9T>C rs886051823 0.00001
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile) rs570927625 0.00001
NM_001089.3(ABCA3):c.1750C>T (p.Pro584Ser) rs552751331 0.00001
NM_001089.3(ABCA3):c.1857C>T (p.Asp619=) rs755482452 0.00001
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=) rs778997367 0.00001
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=) rs970709883 0.00001
NM_001089.3(ABCA3):c.2910C>T (p.Phe970=) rs1596835703 0.00001
NM_001089.3(ABCA3):c.3309C>T (p.Asn1103=) rs372940716 0.00001
NM_001089.3(ABCA3):c.3312G>T (p.Leu1104=) rs759365467 0.00001
NM_001089.3(ABCA3):c.3363C>T (p.Ser1121=) rs754199908 0.00001
NM_001089.3(ABCA3):c.3504C>T (p.Asp1168=) rs141725577 0.00001
NM_001089.3(ABCA3):c.4105C>T (p.Leu1369=) rs999637490 0.00001
NM_001089.3(ABCA3):c.4386G>A (p.Pro1462=) rs562200919 0.00001
NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=) rs751040357 0.00001
NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=) rs753648112 0.00001
NM_001089.3(ABCA3):c.4984-7C>T rs897893563 0.00001
NM_001089.3(ABCA3):c.654G>C (p.Val218=) rs886051833 0.00001
NM_001089.3(ABCA3):c.825G>A (p.Ala275=) rs1177789052 0.00001
NM_001089.3(ABCA3):c.1002T>C (p.Asn334=)
NM_001089.3(ABCA3):c.1008C>T (p.Ala336=)
NM_001089.3(ABCA3):c.100C>T (p.Leu34=)
NM_001089.3(ABCA3):c.1011G>A (p.Val337=)
NM_001089.3(ABCA3):c.1014G>A (p.Leu338=)
NM_001089.3(ABCA3):c.1020C>A (p.Arg340=)
NM_001089.3(ABCA3):c.1023C>T (p.Ser341=)
NM_001089.3(ABCA3):c.102G>C (p.Leu34=)
NM_001089.3(ABCA3):c.1032C>A (p.Ser344=)
NM_001089.3(ABCA3):c.1032C>T (p.Ser344=)
NM_001089.3(ABCA3):c.1041C>T (p.Leu347=)
NM_001089.3(ABCA3):c.1051C>T (p.Leu351=)
NM_001089.3(ABCA3):c.1053G>A (p.Leu351=)
NM_001089.3(ABCA3):c.1071C>G (p.Thr357=)
NM_001089.3(ABCA3):c.1104C>T (p.Phe368=)
NM_001089.3(ABCA3):c.1111+13C>T
NM_001089.3(ABCA3):c.1111+14A>G
NM_001089.3(ABCA3):c.1111+8C>G
NM_001089.3(ABCA3):c.1112-7C>T rs2141719981
NM_001089.3(ABCA3):c.1112-8A>T
NM_001089.3(ABCA3):c.1112-9C>T
NM_001089.3(ABCA3):c.1113C>T (p.Ala371=)
NM_001089.3(ABCA3):c.1149C>T (p.Phe383=)
NM_001089.3(ABCA3):c.114C>T (p.Ile38=)
NM_001089.3(ABCA3):c.1155C>G (p.Thr385=)
NM_001089.3(ABCA3):c.1158C>T (p.Tyr386=)
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
NM_001089.3(ABCA3):c.1173C>T (p.Phe391=)
NM_001089.3(ABCA3):c.1179C>G (p.Ala393=)
NM_001089.3(ABCA3):c.1179C>T (p.Ala393=)
NM_001089.3(ABCA3):c.1185G>T (p.Arg395=)
NM_001089.3(ABCA3):c.1203G>A (p.Leu401=)
NM_001089.3(ABCA3):c.1218C>T (p.Cys406=)
NM_001089.3(ABCA3):c.1221C>T (p.Ser407=)
NM_001089.3(ABCA3):c.1224C>T (p.Cys408=)
NM_001089.3(ABCA3):c.1239C>T (p.Val413=)
NM_001089.3(ABCA3):c.1242C>A (p.Ala414=)
NM_001089.3(ABCA3):c.1260G>A (p.Gln420=)
NM_001089.3(ABCA3):c.1263C>T (p.Leu421=)
NM_001089.3(ABCA3):c.1281G>A (p.Ala427=)
NM_001089.3(ABCA3):c.1285+10T>G
NM_001089.3(ABCA3):c.1285+11G>T
NM_001089.3(ABCA3):c.1285+16dup
NM_001089.3(ABCA3):c.1285+17T>G
NM_001089.3(ABCA3):c.1285+7G>A
NM_001089.3(ABCA3):c.1285+8_1285+11del
NM_001089.3(ABCA3):c.1286-17C>T
NM_001089.3(ABCA3):c.1286-7C>T
NM_001089.3(ABCA3):c.1287C>T (p.Gly429=)
NM_001089.3(ABCA3):c.1314G>A (p.Leu438=)
NM_001089.3(ABCA3):c.1320C>T (p.Pro440=)
NM_001089.3(ABCA3):c.1326C>T (p.Asn442=)
NM_001089.3(ABCA3):c.1332C>T (p.Asp444=)
NM_001089.3(ABCA3):c.1335C>T (p.Asp445=)
NM_001089.3(ABCA3):c.1347C>T (p.Phe449=)
NM_001089.3(ABCA3):c.1357C>T (p.Leu453=)
NM_001089.3(ABCA3):c.1362G>A (p.Gly454=)
NM_001089.3(ABCA3):c.1374G>A (p.Leu458=)
NM_001089.3(ABCA3):c.1383G>A (p.Val461=)
NM_001089.3(ABCA3):c.1395G>A (p.Leu465=)
NM_001089.3(ABCA3):c.1416C>T (p.Ala472=)
NM_001089.3(ABCA3):c.1419C>A (p.Val473=)
NM_001089.3(ABCA3):c.1428G>A (p.Gly476=)
NM_001089.3(ABCA3):c.144G>A (p.Ser48=)
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1467+10G>C
NM_001089.3(ABCA3):c.1467+11A>G
NM_001089.3(ABCA3):c.1467+13G>T
NM_001089.3(ABCA3):c.1467+14C>T
NM_001089.3(ABCA3):c.1468-17G>C
NM_001089.3(ABCA3):c.1468-7C>T
NM_001089.3(ABCA3):c.1468-8C>T
NM_001089.3(ABCA3):c.1468-9C>G
NM_001089.3(ABCA3):c.1470C>T (p.Pro490=)
NM_001089.3(ABCA3):c.1497G>T (p.Ala499=)
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1518A>G (p.Glu506=)
NM_001089.3(ABCA3):c.1530C>T (p.Pro510=)
NM_001089.3(ABCA3):c.1539A>G (p.Ala513=)
NM_001089.3(ABCA3):c.153G>A (p.Val51=)
NM_001089.3(ABCA3):c.1542C>G (p.Leu514=)
NM_001089.3(ABCA3):c.1560A>G (p.Glu520=)
NM_001089.3(ABCA3):c.1578G>C (p.Leu526=)
NM_001089.3(ABCA3):c.1587G>T (p.Gly529=)
NM_001089.3(ABCA3):c.159C>T (p.Asn53=)
NM_001089.3(ABCA3):c.1603C>T (p.Leu535=)
NM_001089.3(ABCA3):c.1611+13G>A
NM_001089.3(ABCA3):c.1611+20C>T
NM_001089.3(ABCA3):c.1611+6G>A
NM_001089.3(ABCA3):c.1612-10T>C
NM_001089.3(ABCA3):c.1612-13G>T
NM_001089.3(ABCA3):c.1612-15C>G
NM_001089.3(ABCA3):c.1617C>T (p.Phe539=)
NM_001089.3(ABCA3):c.1638G>A (p.Arg546=)
NM_001089.3(ABCA3):c.1641G>A (p.Ala547=)
NM_001089.3(ABCA3):c.1644C>T (p.Ala548=)
NM_001089.3(ABCA3):c.1648A>C (p.Arg550=)
NM_001089.3(ABCA3):c.1662C>T (p.Leu554=)
NM_001089.3(ABCA3):c.1671C>T (p.Tyr557=)
NM_001089.3(ABCA3):c.1674G>A (p.Glu558=)
NM_001089.3(ABCA3):c.1686C>T (p.Thr562=)
NM_001089.3(ABCA3):c.1689C>G (p.Val563=)
NM_001089.3(ABCA3):c.1689C>T (p.Val563=)
NM_001089.3(ABCA3):c.168C>T (p.Ile56=)
NM_001089.3(ABCA3):c.1690C>T (p.Leu564=)
NM_001089.3(ABCA3):c.1692G>C (p.Leu564=)
NM_001089.3(ABCA3):c.1692G>T (p.Leu564=)
NM_001089.3(ABCA3):c.1693C>T (p.Leu565=)
NM_001089.3(ABCA3):c.1701C>T (p.His567=)
NM_001089.3(ABCA3):c.1704C>T (p.Asn568=)
NM_001089.3(ABCA3):c.1710C>G (p.Ala570=)
NM_001089.3(ABCA3):c.1710C>T (p.Ala570=)
NM_001089.3(ABCA3):c.1716G>A (p.Lys572=)
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=)
NM_001089.3(ABCA3):c.1731C>T (p.Ser577=)
NM_001089.3(ABCA3):c.1741+13C>G rs759174325
NM_001089.3(ABCA3):c.1741+13C>T
NM_001089.3(ABCA3):c.1741+14G>A
NM_001089.3(ABCA3):c.1741+15C>G
NM_001089.3(ABCA3):c.1741+20C>T
NM_001089.3(ABCA3):c.1741+8C>T
NM_001089.3(ABCA3):c.1742-12G>C
NM_001089.3(ABCA3):c.1742-14C>T
NM_001089.3(ABCA3):c.1742-6C>G
NM_001089.3(ABCA3):c.1742-6C>T
NM_001089.3(ABCA3):c.1742-72dup rs142017625
NM_001089.3(ABCA3):c.174G>A (p.Pro58=)
NM_001089.3(ABCA3):c.1755C>T (p.Pro585=)
NM_001089.3(ABCA3):c.1773C>T (p.Tyr591=)
NM_001089.3(ABCA3):c.177C>G (p.Gly59=)
NM_001089.3(ABCA3):c.1806T>C (p.Val602=)
NM_001089.3(ABCA3):c.180G>A (p.Gln60=)
NM_001089.3(ABCA3):c.1815G>C (p.Arg605=) rs1596843930
NM_001089.3(ABCA3):c.1818G>A (p.Lys606=)
NM_001089.3(ABCA3):c.1821C>T (p.Ser607=)
NM_001089.3(ABCA3):c.1830G>A (p.Leu610=)
NM_001089.3(ABCA3):c.1833C>T (p.Cys611=)
NM_001089.3(ABCA3):c.1836G>A (p.Pro612=)
NM_001089.3(ABCA3):c.1836G>T (p.Pro612=)
NM_001089.3(ABCA3):c.1842C>T (p.His614=)
NM_001089.3(ABCA3):c.1848C>A (p.Ile616=)
NM_001089.3(ABCA3):c.1896+13C>A
NM_001089.3(ABCA3):c.1896+19G>A
NM_001089.3(ABCA3):c.1897-10G>A
NM_001089.3(ABCA3):c.1897-12_1897-11del
NM_001089.3(ABCA3):c.1897-15C>G
NM_001089.3(ABCA3):c.1897-18C>T
NM_001089.3(ABCA3):c.1897-20T>C
NM_001089.3(ABCA3):c.1897-8C>T
NM_001089.3(ABCA3):c.1899G>A (p.Leu633=)
NM_001089.3(ABCA3):c.1906C>T (p.Leu636=)
NM_001089.3(ABCA3):c.1941G>A (p.Gln647=)
NM_001089.3(ABCA3):c.1945C>T (p.Leu649=)
NM_001089.3(ABCA3):c.1947G>A (p.Leu649=)
NM_001089.3(ABCA3):c.1956C>A (p.Ile652=)
NM_001089.3(ABCA3):c.1956C>T (p.Ile652=)
NM_001089.3(ABCA3):c.195G>T (p.Leu65=)
NM_001089.3(ABCA3):c.1962G>A (p.Leu654=)
NM_001089.3(ABCA3):c.1971G>A (p.Lys657=)
NM_001089.3(ABCA3):c.198T>A (p.Pro66=)
NM_001089.3(ABCA3):c.1995G>C (p.Leu665=)
NM_001089.3(ABCA3):c.1995G>T (p.Leu665=)
NM_001089.3(ABCA3):c.1998C>T (p.Ser666=)
NM_001089.3(ABCA3):c.2004C>A (p.Gly668=)
NM_001089.3(ABCA3):c.2025C>T (p.Ile675=)
NM_001089.3(ABCA3):c.2034C>A (p.Ala678=)
NM_001089.3(ABCA3):c.2037C>T (p.Leu679=)
NM_001089.3(ABCA3):c.2052+15C>G
NM_001089.3(ABCA3):c.2052+16T>C
NM_001089.3(ABCA3):c.2052+8G>A
NM_001089.3(ABCA3):c.2053-12C>G
NM_001089.3(ABCA3):c.2053-14G>C
NM_001089.3(ABCA3):c.2053-14_2053-13del
NM_001089.3(ABCA3):c.2053-15dup
NM_001089.3(ABCA3):c.2053-16G>C
NM_001089.3(ABCA3):c.2053-23C>T
NM_001089.3(ABCA3):c.2053-29_2053-5dup
NM_001089.3(ABCA3):c.2053-4C>T
NM_001089.3(ABCA3):c.2053-5T>C
NM_001089.3(ABCA3):c.2053-5T>G
NM_001089.3(ABCA3):c.2053-8C>T
NM_001089.3(ABCA3):c.2064G>A (p.Leu688=)
NM_001089.3(ABCA3):c.2067C>T (p.Asp689=)
NM_001089.3(ABCA3):c.2079G>A (p.Ser693=)
NM_001089.3(ABCA3):c.2082C>T (p.Gly694=)
NM_001089.3(ABCA3):c.2088C>T (p.Asp696=)
NM_001089.3(ABCA3):c.2091C>T (p.Ala697=)
NM_001089.3(ABCA3):c.2097C>T (p.Ser699=)
NM_001089.3(ABCA3):c.2106C>T (p.Ala702=)
NM_001089.3(ABCA3):c.2151G>T (p.Val717=)
NM_001089.3(ABCA3):c.2157C>T (p.Thr719=)
NM_001089.3(ABCA3):c.2163C>T (p.His721=)
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu) rs200855390
NM_001089.3(ABCA3):c.2172C>T (p.Asp724=)
NM_001089.3(ABCA3):c.2175G>A (p.Glu725=)
NM_001089.3(ABCA3):c.2178T>G (p.Ala726=)
NM_001089.3(ABCA3):c.2181C>T (p.Asp727=)
NM_001089.3(ABCA3):c.2182C>T (p.Leu728=)
NM_001089.3(ABCA3):c.2187G>A (p.Leu729=)
NM_001089.3(ABCA3):c.2190A>C (p.Gly730=)
NM_001089.3(ABCA3):c.2199C>A (p.Ile733=)
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.219G>A (p.Pro73=)
NM_001089.3(ABCA3):c.2217G>A (p.Gly739=)
NM_001089.3(ABCA3):c.2232C>T (p.Cys744=)
NM_001089.3(ABCA3):c.2235G>A (p.Gly745=)
NM_001089.3(ABCA3):c.2263+10G>A
NM_001089.3(ABCA3):c.2263+11G>A
NM_001089.3(ABCA3):c.2263+15del
NM_001089.3(ABCA3):c.2263+7G>A
NM_001089.3(ABCA3):c.2263+9T>A
NM_001089.3(ABCA3):c.2263+9T>C
NM_001089.3(ABCA3):c.2264-104T>G rs115348225
NM_001089.3(ABCA3):c.2264-11C>G
NM_001089.3(ABCA3):c.2264-14G>A
NM_001089.3(ABCA3):c.2264-20C>G
NM_001089.3(ABCA3):c.2264-4C>T
NM_001089.3(ABCA3):c.2283G>A (p.Thr761=)
NM_001089.3(ABCA3):c.2292G>A (p.Lys764=)
NM_001089.3(ABCA3):c.2298G>A (p.Pro766=)
NM_001089.3(ABCA3):c.2310G>A (p.Pro770=)
NM_001089.3(ABCA3):c.2310G>C (p.Pro770=)
NM_001089.3(ABCA3):c.2321C>T (p.Ser774Phe)
NM_001089.3(ABCA3):c.2325G>A (p.Gln775=)
NM_001089.3(ABCA3):c.2331C>T (p.Val777=)
NM_001089.3(ABCA3):c.2355G>A (p.Thr785=)
NM_001089.3(ABCA3):c.2355G>C (p.Thr785=)
NM_001089.3(ABCA3):c.2367C>T (p.Ser789=)
NM_001089.3(ABCA3):c.2376C>T (p.Ala792=)
NM_001089.3(ABCA3):c.2382G>A (p.Leu794=)
NM_001089.3(ABCA3):c.2391C>T (p.Ile797=)
NM_001089.3(ABCA3):c.2394T>C (p.Leu798=)
NM_001089.3(ABCA3):c.2409G>A (p.Thr803=)
NM_001089.3(ABCA3):c.2414+10C>T
NM_001089.3(ABCA3):c.2414+14G>T
NM_001089.3(ABCA3):c.2414+15G>A
NM_001089.3(ABCA3):c.2414+7C>T
NM_001089.3(ABCA3):c.2415-14G>C
NM_001089.3(ABCA3):c.2415-19T>A
NM_001089.3(ABCA3):c.2415-4T>A rs201775187
NM_001089.3(ABCA3):c.2415-6T>C
NM_001089.3(ABCA3):c.2415-9G>A
NM_001089.3(ABCA3):c.2439G>A (p.Leu813=)
NM_001089.3(ABCA3):c.243C>T (p.Ala81=)
NM_001089.3(ABCA3):c.2442G>A (p.Glu814=)
NM_001089.3(ABCA3):c.2454A>G (p.Lys818=)
NM_001089.3(ABCA3):c.2460G>A (p.Leu820=)
NM_001089.3(ABCA3):c.2472C>T (p.Ser824=)
NM_001089.3(ABCA3):c.2481A>G (p.Ala827=)
NM_001089.3(ABCA3):c.249C>T (p.Ile83=)
NM_001089.3(ABCA3):c.24G>A (p.Ala8=)
NM_001089.3(ABCA3):c.2502A>G (p.Glu834=)
NM_001089.3(ABCA3):c.2513+12C>T
NM_001089.3(ABCA3):c.2513+13G>A
NM_001089.3(ABCA3):c.2513+20C>T
NM_001089.3(ABCA3):c.2513+7A>G
NM_001089.3(ABCA3):c.2514-10A>G
NM_001089.3(ABCA3):c.2514-12G>A
NM_001089.3(ABCA3):c.2514-17T>C
NM_001089.3(ABCA3):c.2514-20C>A
NM_001089.3(ABCA3):c.2514-26_2514-16del
NM_001089.3(ABCA3):c.2514-6G>A
NM_001089.3(ABCA3):c.2514-8C>G
NM_001089.3(ABCA3):c.2517C>G (p.Val839=)
NM_001089.3(ABCA3):c.2517C>T (p.Val839=)
NM_001089.3(ABCA3):c.2523G>A (p.Lys841=)
NM_001089.3(ABCA3):c.2538T>C (p.Ser846=)
NM_001089.3(ABCA3):c.2565T>A (p.Pro855=)
NM_001089.3(ABCA3):c.2577C>T (p.Tyr859=)
NM_001089.3(ABCA3):c.2592C>T (p.Arg864=)
NM_001089.3(ABCA3):c.2616C>T (p.Ser872=) rs577301887
NM_001089.3(ABCA3):c.2628G>A (p.Gly876=)
NM_001089.3(ABCA3):c.2643C>T (p.Ser881=)
NM_001089.3(ABCA3):c.2646C>T (p.Asp882=)
NM_001089.3(ABCA3):c.264C>T (p.Asp88=)
NM_001089.3(ABCA3):c.2664C>T (p.Ile888=)
NM_001089.3(ABCA3):c.2667G>A (p.Glu889=)
NM_001089.3(ABCA3):c.2670G>A (p.Glu890=)
NM_001089.3(ABCA3):c.2676C>T (p.Arg892=)
NM_001089.3(ABCA3):c.2679C>A (p.Thr893=)
NM_001089.3(ABCA3):c.2691C>T (p.Leu897=)
NM_001089.3(ABCA3):c.2700+12G>A
NM_001089.3(ABCA3):c.2700+18T>C
NM_001089.3(ABCA3):c.2701-13C>T
NM_001089.3(ABCA3):c.2701-16G>A
NM_001089.3(ABCA3):c.2701-17C>T
NM_001089.3(ABCA3):c.2701-20C>G
NM_001089.3(ABCA3):c.2701-4G>A
NM_001089.3(ABCA3):c.2701-5C>T
NM_001089.3(ABCA3):c.2701-7G>A
NM_001089.3(ABCA3):c.2701-9C>G
NM_001089.3(ABCA3):c.2703C>T (p.Leu901=)
NM_001089.3(ABCA3):c.2721A>G (p.Gln907=)
NM_001089.3(ABCA3):c.2730C>T (p.Ala910=)
NM_001089.3(ABCA3):c.2739G>A (p.Leu913=)
NM_001089.3(ABCA3):c.2748C>T (p.Ala916=)
NM_001089.3(ABCA3):c.2754C>T (p.Tyr918=)
NM_001089.3(ABCA3):c.2763C>T (p.Arg921=)
NM_001089.3(ABCA3):c.276C>T (p.Thr92=)
NM_001089.3(ABCA3):c.277G>A (p.Val93Ile)
NM_001089.3(ABCA3):c.2781G>A (p.Ala927=)
NM_001089.3(ABCA3):c.2791C>T (p.Leu931=)
NM_001089.3(ABCA3):c.279C>T (p.Val93=)
NM_001089.3(ABCA3):c.27C>G (p.Leu9=)
NM_001089.3(ABCA3):c.27C>T (p.Leu9=)
NM_001089.3(ABCA3):c.2802G>C (p.Leu934=)
NM_001089.3(ABCA3):c.2808C>T (p.Cys936=)
NM_001089.3(ABCA3):c.2826G>C (p.Leu942=)
NM_001089.3(ABCA3):c.2844G>A (p.Ser948=)
NM_001089.3(ABCA3):c.2850C>T (p.Leu950=)
NM_001089.3(ABCA3):c.2853C>T (p.Phe951=)
NM_001089.3(ABCA3):c.2889C>T (p.Tyr963=)
NM_001089.3(ABCA3):c.2901C>T (p.Val967=)
NM_001089.3(ABCA3):c.2919C>T (p.Pro973=)
NM_001089.3(ABCA3):c.291G>A (p.Val97=)
NM_001089.3(ABCA3):c.2944C>T (p.Leu982=)
NM_001089.3(ABCA3):c.294C>T (p.Arg98=)
NM_001089.3(ABCA3):c.2964C>T (p.Asp988=)
NM_001089.3(ABCA3):c.2997G>A (p.Glu999=)
NM_001089.3(ABCA3):c.3004+14C>T
NM_001089.3(ABCA3):c.3004+18_3004+19del
NM_001089.3(ABCA3):c.3004+20C>G
NM_001089.3(ABCA3):c.3004+20C>T
NM_001089.3(ABCA3):c.3005-14C>T
NM_001089.3(ABCA3):c.3005-18T>A
NM_001089.3(ABCA3):c.3005-4C>T
NM_001089.3(ABCA3):c.3005-8C>T
NM_001089.3(ABCA3):c.3005-9G>A
NM_001089.3(ABCA3):c.300A>G (p.Ala100=)
NM_001089.3(ABCA3):c.3018G>A (p.Glu1006=) rs2141696825
NM_001089.3(ABCA3):c.3036T>G (p.Ala1012=)
NM_001089.3(ABCA3):c.3039T>C (p.Ser1013=)
NM_001089.3(ABCA3):c.3051C>T (p.Gly1017=)
NM_001089.3(ABCA3):c.3081G>A (p.Ala1027=)
NM_001089.3(ABCA3):c.3084C>G (p.Ser1028=)
NM_001089.3(ABCA3):c.30C>T (p.Leu10=)
NM_001089.3(ABCA3):c.3105C>G (p.Arg1035=)
NM_001089.3(ABCA3):c.3108G>A (p.Thr1036=)
NM_001089.3(ABCA3):c.3108G>C (p.Thr1036=)
NM_001089.3(ABCA3):c.3108G>T (p.Thr1036=)
NM_001089.3(ABCA3):c.3111C>T (p.Val1037=)
NM_001089.3(ABCA3):c.3117C>T (p.Asn1039=)
NM_001089.3(ABCA3):c.3138G>A (p.Ala1046=)
NM_001089.3(ABCA3):c.3141C>T (p.Tyr1047=) rs1317615053
NM_001089.3(ABCA3):c.3159C>A (p.Ala1053=)
NM_001089.3(ABCA3):c.3165C>T (p.Ala1055=)
NM_001089.3(ABCA3):c.3168C>G (p.Val1056=)
NM_001089.3(ABCA3):c.3168C>T (p.Val1056=)
NM_001089.3(ABCA3):c.3181C>T (p.Leu1061=)
NM_001089.3(ABCA3):c.319+12C>G
NM_001089.3(ABCA3):c.319+12C>T
NM_001089.3(ABCA3):c.319+13G>A
NM_001089.3(ABCA3):c.319+15G>T
NM_001089.3(ABCA3):c.319+16G>A
NM_001089.3(ABCA3):c.319+9T>C
NM_001089.3(ABCA3):c.3198C>T (p.Cys1066=)
NM_001089.3(ABCA3):c.320-10C>G
NM_001089.3(ABCA3):c.320-13T>C
NM_001089.3(ABCA3):c.320-16T>C
NM_001089.3(ABCA3):c.320-18C>G
NM_001089.3(ABCA3):c.320-18C>T
NM_001089.3(ABCA3):c.320-20C>G
NM_001089.3(ABCA3):c.320-20C>T
NM_001089.3(ABCA3):c.320-4G>A
NM_001089.3(ABCA3):c.320-7T>G
NM_001089.3(ABCA3):c.320-9T>C
NM_001089.3(ABCA3):c.3234C>A (p.Pro1078=)
NM_001089.3(ABCA3):c.3240C>T (p.Pro1080=)
NM_001089.3(ABCA3):c.3241C>A (p.Arg1081=)
NM_001089.3(ABCA3):c.3246C>T (p.Ser1082=)
NM_001089.3(ABCA3):c.324C>T (p.Arg108=)
NM_001089.3(ABCA3):c.3264G>A (p.Lys1088=)
NM_001089.3(ABCA3):c.3267C>T (p.Asp1089=)
NM_001089.3(ABCA3):c.3270G>A (p.Gln1090=)
NM_001089.3(ABCA3):c.3276C>T (p.Asn1092=)
NM_001089.3(ABCA3):c.3278+13_3278+22del
NM_001089.3(ABCA3):c.3278+15C>T
NM_001089.3(ABCA3):c.3278+16G>A
NM_001089.3(ABCA3):c.3278+20C>G
NM_001089.3(ABCA3):c.3278+8C>T
NM_001089.3(ABCA3):c.3278+9del
NM_001089.3(ABCA3):c.3279-12T>C
NM_001089.3(ABCA3):c.3279-12del
NM_001089.3(ABCA3):c.3279-13C>G
NM_001089.3(ABCA3):c.3279-13C>T
NM_001089.3(ABCA3):c.3279-19C>A
NM_001089.3(ABCA3):c.3279-5C>T
NM_001089.3(ABCA3):c.3279-6C>T
NM_001089.3(ABCA3):c.3279-8C>T
NM_001089.3(ABCA3):c.3294C>T (p.Phe1098=)
NM_001089.3(ABCA3):c.3306C>G (p.Leu1102=)
NM_001089.3(ABCA3):c.3312G>A (p.Leu1104=)
NM_001089.3(ABCA3):c.3318C>T (p.Phe1106=)
NM_001089.3(ABCA3):c.3342G>A (p.Thr1114=)
NM_001089.3(ABCA3):c.3357G>A (p.Ala1119=)
NM_001089.3(ABCA3):c.3366G>A (p.Glu1122=)
NM_001089.3(ABCA3):c.336C>T (p.Ser112=)
NM_001089.3(ABCA3):c.3372C>T (p.Ala1124=)
NM_001089.3(ABCA3):c.3378G>A (p.Gln1126=)
NM_001089.3(ABCA3):c.3390G>A (p.Val1130=)
NM_001089.3(ABCA3):c.3405A>G (p.Gly1135=)
NM_001089.3(ABCA3):c.3411C>T (p.His1137=)
NM_001089.3(ABCA3):c.3414G>T (p.Val1138=)
NM_001089.3(ABCA3):c.3474G>A (p.Leu1158=)
NM_001089.3(ABCA3):c.3483+10G>A rs886051813
NM_001089.3(ABCA3):c.3483+15G>A
NM_001089.3(ABCA3):c.3483+20G>A
NM_001089.3(ABCA3):c.3483+7G>A
NM_001089.3(ABCA3):c.3483+9C>T
NM_001089.3(ABCA3):c.3484-12G>C
NM_001089.3(ABCA3):c.3484-20G>A
NM_001089.3(ABCA3):c.3484-4G>A
NM_001089.3(ABCA3):c.3484-4G>T rs761533713
NM_001089.3(ABCA3):c.3484-5C>T
NM_001089.3(ABCA3):c.3484-6C>T
NM_001089.3(ABCA3):c.3484-7G>A
NM_001089.3(ABCA3):c.3484-8C>T
NM_001089.3(ABCA3):c.3486G>T (p.Val1162=)
NM_001089.3(ABCA3):c.3489G>A (p.Val1163=)
NM_001089.3(ABCA3):c.3492T>C (p.Phe1164=)
NM_001089.3(ABCA3):c.3495G>A (p.Lys1165=)
NM_001089.3(ABCA3):c.3501C>T (p.Phe1167=)
NM_001089.3(ABCA3):c.3525C>T (p.Asp1175=)
NM_001089.3(ABCA3):c.3531C>T (p.His1177=)
NM_001089.3(ABCA3):c.3546G>A (p.Leu1182=)
NM_001089.3(ABCA3):c.3546G>T (p.Leu1182=)
NM_001089.3(ABCA3):c.3550C>T (p.Leu1184=)
NM_001089.3(ABCA3):c.3558G>C (p.Leu1186=)
NM_001089.3(ABCA3):c.3561C>G (p.Leu1187=)
NM_001089.3(ABCA3):c.3561C>T (p.Leu1187=)
NM_001089.3(ABCA3):c.3564C>T (p.Tyr1188=)
NM_001089.3(ABCA3):c.3592C>T (p.Leu1198=)
NM_001089.3(ABCA3):c.3610T>C (p.Leu1204=)
NM_001089.3(ABCA3):c.3630C>T (p.Tyr1210=)
NM_001089.3(ABCA3):c.3639G>A (p.Leu1213=)
NM_001089.3(ABCA3):c.3639G>C (p.Leu1213=)
NM_001089.3(ABCA3):c.3666C>T (p.Ile1222=)
NM_001089.3(ABCA3):c.3669C>T (p.Ala1223=)
NM_001089.3(ABCA3):c.366C>T (p.Tyr122=)
NM_001089.3(ABCA3):c.3672C>T (p.Thr1224=)
NM_001089.3(ABCA3):c.3675C>T (p.Phe1225=)
NM_001089.3(ABCA3):c.3696C>T (p.Arg1232=)
NM_001089.3(ABCA3):c.3703+12G>A
NM_001089.3(ABCA3):c.3703+13A>C
NM_001089.3(ABCA3):c.3703+17C>G
NM_001089.3(ABCA3):c.3703+8C>T
NM_001089.3(ABCA3):c.3703+9C>G
NM_001089.3(ABCA3):c.3704-13C>T
NM_001089.3(ABCA3):c.3704-4G>A
NM_001089.3(ABCA3):c.3704-4G>C
NM_001089.3(ABCA3):c.3704-5C>T
NM_001089.3(ABCA3):c.3704-6A>C
NM_001089.3(ABCA3):c.3704-8C>A
NM_001089.3(ABCA3):c.3741C>T (p.His1247=)
NM_001089.3(ABCA3):c.3748C>T (p.Leu1250=)
NM_001089.3(ABCA3):c.378G>A (p.Ser126=)
NM_001089.3(ABCA3):c.3792C>T (p.Phe1264=)
NM_001089.3(ABCA3):c.3795C>T (p.Tyr1265=)
NM_001089.3(ABCA3):c.3804C>T (p.Tyr1268=)
NM_001089.3(ABCA3):c.3810G>A (p.Thr1270=)
NM_001089.3(ABCA3):c.3811C>A (p.Arg1271=)
NM_001089.3(ABCA3):c.381C>T (p.Ser127=)
NM_001089.3(ABCA3):c.3825C>T (p.Thr1275=)
NM_001089.3(ABCA3):c.3828C>A (p.Ser1276=)
NM_001089.3(ABCA3):c.3831C>T (p.Ser1277=)
NM_001089.3(ABCA3):c.3837C>T (p.Val1279=)
NM_001089.3(ABCA3):c.3840C>T (p.Ala1280=)
NM_001089.3(ABCA3):c.3849C>T (p.Tyr1283=)
NM_001089.3(ABCA3):c.384C>T (p.Ser128=)
NM_001089.3(ABCA3):c.3862+10C>T
NM_001089.3(ABCA3):c.3862+11C>T
NM_001089.3(ABCA3):c.3862+13G>A
NM_001089.3(ABCA3):c.3862+14C>T
NM_001089.3(ABCA3):c.3862+17C>T
NM_001089.3(ABCA3):c.3862+18G>A
NM_001089.3(ABCA3):c.3862+20C>T
NM_001089.3(ABCA3):c.3863-10C>T
NM_001089.3(ABCA3):c.3863-13C>T
NM_001089.3(ABCA3):c.3863-14C>G
NM_001089.3(ABCA3):c.3863-14C>T
NM_001089.3(ABCA3):c.3863-16C>T
NM_001089.3(ABCA3):c.3863-17_3863-16del
NM_001089.3(ABCA3):c.3863-20_3863-19insGA
NM_001089.3(ABCA3):c.3863-7C>A
NM_001089.3(ABCA3):c.3863-98C>A
NM_001089.3(ABCA3):c.3863-9G>A
NM_001089.3(ABCA3):c.3873C>T (p.Tyr1291=)
NM_001089.3(ABCA3):c.3888T>C (p.Tyr1296=)
NM_001089.3(ABCA3):c.3903G>A (p.Pro1301=)
NM_001089.3(ABCA3):c.3909C>T (p.Val1303=)
NM_001089.3(ABCA3):c.3915G>C (p.Arg1305=)
NM_001089.3(ABCA3):c.3933C>T (p.Ala1311=)
NM_001089.3(ABCA3):c.3936C>T (p.Ala1312=)
NM_001089.3(ABCA3):c.3945C>T (p.Cys1315=)
NM_001089.3(ABCA3):c.3960G>C (p.Leu1320=)
NM_001089.3(ABCA3):c.3969C>T (p.Leu1323=)
NM_001089.3(ABCA3):c.396C>T (p.Ala132=)
NM_001089.3(ABCA3):c.3972C>T (p.Ile1324=)
NM_001089.3(ABCA3):c.3984G>A (p.Leu1328=)
NM_001089.3(ABCA3):c.4005C>T (p.Ile1335=)
NM_001089.3(ABCA3):c.4008C>G (p.Leu1336=)
NM_001089.3(ABCA3):c.4011C>T (p.Cys1337=)
NM_001089.3(ABCA3):c.4017C>G (p.Leu1339=) rs1158347011
NM_001089.3(ABCA3):c.4035+10T>C
NM_001089.3(ABCA3):c.4035+12C>T
NM_001089.3(ABCA3):c.4035+13G>A
NM_001089.3(ABCA3):c.4035+15G>T
NM_001089.3(ABCA3):c.4035+9C>G
NM_001089.3(ABCA3):c.4036-11T>C
NM_001089.3(ABCA3):c.4036-14T>C
NM_001089.3(ABCA3):c.4036-298del rs765812169
NM_001089.3(ABCA3):c.4036-313dup rs765812169
NM_001089.3(ABCA3):c.4047C>T (p.Tyr1349=)
NM_001089.3(ABCA3):c.4053G>A (p.Arg1351=)
NM_001089.3(ABCA3):c.4086G>A (p.Ala1362=)
NM_001089.3(ABCA3):c.4086G>T (p.Ala1362=)
NM_001089.3(ABCA3):c.4095G>A (p.Arg1365=)
NM_001089.3(ABCA3):c.4101C>A (p.Arg1367=)
NM_001089.3(ABCA3):c.4107G>A (p.Leu1369=)
NM_001089.3(ABCA3):c.4110C>T (p.Ala1370=)
NM_001089.3(ABCA3):c.4113C>A (p.Pro1371=)
NM_001089.3(ABCA3):c.4113C>T (p.Pro1371=)
NM_001089.3(ABCA3):c.4125C>T (p.Ser1375=)
NM_001089.3(ABCA3):c.4131C>T (p.Leu1377=)
NM_001089.3(ABCA3):c.4137A>C (p.Thr1379=)
NM_001089.3(ABCA3):c.4143G>T (p.Leu1381=)
NM_001089.3(ABCA3):c.4146T>C (p.Ile1382=)
NM_001089.3(ABCA3):c.4149C>T (p.Ile1383=)
NM_001089.3(ABCA3):c.414C>G (p.Pro138=)
NM_001089.3(ABCA3):c.4158C>G (p.Leu1386=)
NM_001089.3(ABCA3):c.4158C>T (p.Leu1386=)
NM_001089.3(ABCA3):c.4161C>T (p.Ser1387=)
NM_001089.3(ABCA3):c.4164+12A>G
NM_001089.3(ABCA3):c.4164+16G>C
NM_001089.3(ABCA3):c.4164+17G>T
NM_001089.3(ABCA3):c.4164+19G>A
NM_001089.3(ABCA3):c.4164+8T>G
NM_001089.3(ABCA3):c.4165-10G>A
NM_001089.3(ABCA3):c.4165-4G>C
NM_001089.3(ABCA3):c.4165-70G>A
NM_001089.3(ABCA3):c.4165-7C>T rs1383979672
NM_001089.3(ABCA3):c.4170C>T (p.Tyr1390=)
NM_001089.3(ABCA3):c.417C>T (p.Phe139=)
NM_001089.3(ABCA3):c.4194C>A (p.Ala1398=)
NM_001089.3(ABCA3):c.4194C>T (p.Ala1398=)
NM_001089.3(ABCA3):c.4212C>T (p.Leu1404=)
NM_001089.3(ABCA3):c.4215G>A (p.Ala1405=)
NM_001089.3(ABCA3):c.4230G>A (p.Glu1410=)
NM_001089.3(ABCA3):c.4236C>T (p.Phe1412=)
NM_001089.3(ABCA3):c.4242G>A (p.Leu1414=)
NM_001089.3(ABCA3):c.4243C>T (p.Leu1415=)
NM_001089.3(ABCA3):c.4248C>T (p.Gly1416=)
NM_001089.3(ABCA3):c.4260C>T (p.Ala1420=)
NM_001089.3(ABCA3):c.4269C>A (p.Thr1423=)
NM_001089.3(ABCA3):c.4272G>A (p.Thr1424=)
NM_001089.3(ABCA3):c.4275T>C (p.Thr1425=)
NM_001089.3(ABCA3):c.4290C>G (p.Thr1430=)
NM_001089.3(ABCA3):c.4290C>T (p.Thr1430=)
NM_001089.3(ABCA3):c.4293G>A (p.Gly1431=)
NM_001089.3(ABCA3):c.4305C>T (p.Leu1435=)
NM_001089.3(ABCA3):c.4311T>C (p.Ser1437=)
NM_001089.3(ABCA3):c.4320C>T (p.Ala1440=)
NM_001089.3(ABCA3):c.4326C>T (p.Val1442=)
NM_001089.3(ABCA3):c.4329G>A (p.Gly1443=)
NM_001089.3(ABCA3):c.4329G>C (p.Gly1443=)
NM_001089.3(ABCA3):c.4341C>T (p.Ile1447=)
NM_001089.3(ABCA3):c.4353C>T (p.Val1451=)
NM_001089.3(ABCA3):c.4359+12C>T
NM_001089.3(ABCA3):c.4359+16G>A
NM_001089.3(ABCA3):c.4359+20C>T
NM_001089.3(ABCA3):c.4359+7G>A
NM_001089.3(ABCA3):c.435C>A (p.Pro145=)
NM_001089.3(ABCA3):c.4360-20C>T
NM_001089.3(ABCA3):c.4360-8G>A
NM_001089.3(ABCA3):c.4360-9C>T
NM_001089.3(ABCA3):c.4374C>A (p.Ile1458=)
NM_001089.3(ABCA3):c.4374C>T (p.Ile1458=)
NM_001089.3(ABCA3):c.4407C>T (p.Asp1469=)
NM_001089.3(ABCA3):c.4416A>G (p.Thr1472=)
NM_001089.3(ABCA3):c.441G>A (p.Pro147=)
NM_001089.3(ABCA3):c.4422G>A (p.Arg1474=)
NM_001089.3(ABCA3):c.4425G>A (p.Glu1475=)
NM_001089.3(ABCA3):c.4431G>C (p.Leu1477=)
NM_001089.3(ABCA3):c.4440C>T (p.Tyr1480=)
NM_001089.3(ABCA3):c.4449C>T (p.Leu1483=)
NM_001089.3(ABCA3):c.4450C>A (p.Arg1484=)
NM_001089.3(ABCA3):c.4458C>T (p.Ile1486=)
NM_001089.3(ABCA3):c.4467C>T (p.Arg1489=)
NM_001089.3(ABCA3):c.447+11C>G
NM_001089.3(ABCA3):c.447+12G>A
NM_001089.3(ABCA3):c.447+15C>T
NM_001089.3(ABCA3):c.447+20C>A
NM_001089.3(ABCA3):c.447+20C>T
NM_001089.3(ABCA3):c.447+7C>T
NM_001089.3(ABCA3):c.447+9T>C
NM_001089.3(ABCA3):c.448-10G>T
NM_001089.3(ABCA3):c.448-12_448-11del
NM_001089.3(ABCA3):c.448-13T>A
NM_001089.3(ABCA3):c.448-4A>G
NM_001089.3(ABCA3):c.4482C>T (p.Cys1494=)
NM_001089.3(ABCA3):c.4485G>A (p.Val1495=)
NM_001089.3(ABCA3):c.4503C>T (p.Gly1501=)
NM_001089.3(ABCA3):c.4530G>A (p.Lys1510=)
NM_001089.3(ABCA3):c.4542G>A (p.Thr1514=)
NM_001089.3(ABCA3):c.4547+11C>T
NM_001089.3(ABCA3):c.4547+12G>A
NM_001089.3(ABCA3):c.4547+14G>A
NM_001089.3(ABCA3):c.4547+16C>T
NM_001089.3(ABCA3):c.4547+18T>C
NM_001089.3(ABCA3):c.4547+20G>A
NM_001089.3(ABCA3):c.4548-17C>T
NM_001089.3(ABCA3):c.4548-7C>T
NM_001089.3(ABCA3):c.4560G>A (p.Lys1520=)
NM_001089.3(ABCA3):c.4569G>A (p.Leu1523=)
NM_001089.3(ABCA3):c.456T>C (p.Tyr152=)
NM_001089.3(ABCA3):c.4572C>T (p.Ser1524=)
NM_001089.3(ABCA3):c.4575C>T (p.Thr1525=)
NM_001089.3(ABCA3):c.4581C>T (p.Ile1527=)
NM_001089.3(ABCA3):c.4590C>T (p.Ile1530=)
NM_001089.3(ABCA3):c.45C>T (p.Tyr15=)
NM_001089.3(ABCA3):c.4623G>A (p.Pro1541=)
NM_001089.3(ABCA3):c.4638C>T (p.Asp1546=)
NM_001089.3(ABCA3):c.4650G>A (p.Arg1550=)
NM_001089.3(ABCA3):c.4653C>T (p.Arg1551=)
NM_001089.3(ABCA3):c.465G>A (p.Arg155=)
NM_001089.3(ABCA3):c.4665C>T (p.Asp1555=)
NM_001089.3(ABCA3):c.4675C>A (p.Arg1559=)
NM_001089.3(ABCA3):c.4707C>T (p.Ile1569=)
NM_001089.3(ABCA3):c.4710C>G (p.Thr1570=) rs2141687965
NM_001089.3(ABCA3):c.4718+12del
NM_001089.3(ABCA3):c.4718+16G>C
NM_001089.3(ABCA3):c.4718+19G>C
NM_001089.3(ABCA3):c.4718+19G>T
NM_001089.3(ABCA3):c.4718+20G>C
NM_001089.3(ABCA3):c.4718+7C>T
NM_001089.3(ABCA3):c.4719-13G>A
NM_001089.3(ABCA3):c.4719-14C>G
NM_001089.3(ABCA3):c.4719-14C>T
NM_001089.3(ABCA3):c.4719-19G>A
NM_001089.3(ABCA3):c.4719-4A>C
NM_001089.3(ABCA3):c.4719-6C>T
NM_001089.3(ABCA3):c.4719-76C>G rs73500154
NM_001089.3(ABCA3):c.4719-7_4719-6del
NM_001089.3(ABCA3):c.4743C>T (p.Cys1581=)
NM_001089.3(ABCA3):c.4746C>T (p.Thr1582=)
NM_001089.3(ABCA3):c.474C>T (p.Tyr158=)
NM_001089.3(ABCA3):c.4758C>A (p.Ile1586=)
NM_001089.3(ABCA3):c.4803C>T (p.Leu1601=)
NM_001089.3(ABCA3):c.4806G>A (p.Lys1602=)
NM_001089.3(ABCA3):c.480G>A (p.Arg160=)
NM_001089.3(ABCA3):c.4815C>T (p.Phe1605=)
NM_001089.3(ABCA3):c.4821C>T (p.Ser1607=)
NM_001089.3(ABCA3):c.4824C>A (p.Gly1608=)
NM_001089.3(ABCA3):c.4845G>A (p.Val1615=)
NM_001089.3(ABCA3):c.4857G>A (p.Gly1619=)
NM_001089.3(ABCA3):c.4860A>G (p.Gln1620=)
NM_001089.3(ABCA3):c.4869G>A (p.Ala1623=)
NM_001089.3(ABCA3):c.4869G>C (p.Ala1623=)
NM_001089.3(ABCA3):c.4869G>T (p.Ala1623=)
NM_001089.3(ABCA3):c.4872G>A (p.Leu1624=)
NM_001089.3(ABCA3):c.4881C>T (p.Phe1627=)
NM_001089.3(ABCA3):c.4884G>A (p.Lys1628=)
NM_001089.3(ABCA3):c.4890C>T (p.Phe1630=)
NM_001089.3(ABCA3):c.489C>T (p.Tyr163=)
NM_001089.3(ABCA3):c.48C>T (p.Thr16=)
NM_001089.3(ABCA3):c.4905T>C (p.Phe1635=)
NM_001089.3(ABCA3):c.4909+10G>A
NM_001089.3(ABCA3):c.4909+11G>A
NM_001089.3(ABCA3):c.4909+13C>A
NM_001089.3(ABCA3):c.4909+16G>A
NM_001089.3(ABCA3):c.4909+16_4909+38del
NM_001089.3(ABCA3):c.4909+20_4909+26del
NM_001089.3(ABCA3):c.4909+8C>T
NM_001089.3(ABCA3):c.4909+9C>T
NM_001089.3(ABCA3):c.4910-15C>T
NM_001089.3(ABCA3):c.4910-17G>A
NM_001089.3(ABCA3):c.4910-18C>T
NM_001089.3(ABCA3):c.4910-4G>A
NM_001089.3(ABCA3):c.4910-6G>A
NM_001089.3(ABCA3):c.4910-6G>C
NM_001089.3(ABCA3):c.4910-7T>C
NM_001089.3(ABCA3):c.4914C>T (p.Ser1638=)
NM_001089.3(ABCA3):c.4923A>G (p.Glu1641=)
NM_001089.3(ABCA3):c.4929G>A (p.Glu1643=)
NM_001089.3(ABCA3):c.4959G>A (p.Pro1653=)
NM_001089.3(ABCA3):c.4980G>A (p.Ala1660=)
NM_001089.3(ABCA3):c.4983+13C>A
NM_001089.3(ABCA3):c.4983+15G>A
NM_001089.3(ABCA3):c.4983+16G>C
NM_001089.3(ABCA3):c.4983+17G>C
NM_001089.3(ABCA3):c.4983+9G>A
NM_001089.3(ABCA3):c.4984-11G>A
NM_001089.3(ABCA3):c.4984-12T>C
NM_001089.3(ABCA3):c.4984-14T>C
NM_001089.3(ABCA3):c.4984-18C>T
NM_001089.3(ABCA3):c.4984-4A>C
NM_001089.3(ABCA3):c.4984-4A>G
NM_001089.3(ABCA3):c.4984-8C>T
NM_001089.3(ABCA3):c.4989C>T (p.Phe1663=)
NM_001089.3(ABCA3):c.4998G>A (p.Leu1666=)
NM_001089.3(ABCA3):c.49C>T (p.Leu17=)
NM_001089.3(ABCA3):c.5019C>T (p.Tyr1673=)
NM_001089.3(ABCA3):c.5028C>T (p.Asp1676=)
NM_001089.3(ABCA3):c.5037C>T (p.Ser1679=)
NM_001089.3(ABCA3):c.5038G>A (p.Val1680Met) rs759974464
NM_001089.3(ABCA3):c.5043C>T (p.Ser1681=)
NM_001089.3(ABCA3):c.504A>G (p.Thr168=)
NM_001089.3(ABCA3):c.5052G>A (p.Ser1684=)
NM_001089.3(ABCA3):c.5052G>T (p.Ser1684=)
NM_001089.3(ABCA3):c.5076C>T (p.Phe1692=)
NM_001089.3(ABCA3):c.5082C>T (p.His1694=)
NM_001089.3(ABCA3):c.5083C>T (p.Leu1695=)
NM_001089.3(ABCA3):c.5085G>A (p.Leu1695=)
NM_001089.3(ABCA3):c.5091G>A (p.Pro1697=)
NM_001089.3(ABCA3):c.5100A>G (p.Ala1700=)
NM_001089.3(ABCA3):c.5106G>A (p.Glu1702=)
NM_001089.3(ABCA3):c.5109G>A (p.Gly1703=)
NM_001089.3(ABCA3):c.513T>C (p.Phe171=)
NM_001089.3(ABCA3):c.54+10G>C
NM_001089.3(ABCA3):c.54+10G>T
NM_001089.3(ABCA3):c.54+17G>A
NM_001089.3(ABCA3):c.54+18A>C
NM_001089.3(ABCA3):c.54+19G>A
NM_001089.3(ABCA3):c.543T>G (p.Thr181=)
NM_001089.3(ABCA3):c.55-11A>G
NM_001089.3(ABCA3):c.55-13G>A
NM_001089.3(ABCA3):c.55-16A>G
NM_001089.3(ABCA3):c.55-18C>G
NM_001089.3(ABCA3):c.55-20C>A
NM_001089.3(ABCA3):c.55-4C>A
NM_001089.3(ABCA3):c.55-7C>T
NM_001089.3(ABCA3):c.555C>T (p.Phe185=)
NM_001089.3(ABCA3):c.558G>A (p.Pro186=)
NM_001089.3(ABCA3):c.558G>T (p.Pro186=)
NM_001089.3(ABCA3):c.561T>C (p.Leu187=)
NM_001089.3(ABCA3):c.576A>G (p.Gly192=)
NM_001089.3(ABCA3):c.579A>G (p.Pro193=)
NM_001089.3(ABCA3):c.597T>G (p.Pro199=)
NM_001089.3(ABCA3):c.603C>T (p.Gly201=)
NM_001089.3(ABCA3):c.613+11C>T
NM_001089.3(ABCA3):c.613+12G>A
NM_001089.3(ABCA3):c.613+14T>C rs2093729306
NM_001089.3(ABCA3):c.613+18G>C
NM_001089.3(ABCA3):c.614-14G>A
NM_001089.3(ABCA3):c.614-19C>G
NM_001089.3(ABCA3):c.614-4C>T
NM_001089.3(ABCA3):c.614-7C>T
NM_001089.3(ABCA3):c.614-8G>A
NM_001089.3(ABCA3):c.614-8G>T
NM_001089.3(ABCA3):c.618C>T (p.Tyr206=)
NM_001089.3(ABCA3):c.621C>A (p.Ile207=)
NM_001089.3(ABCA3):c.624G>A (p.Arg208=)
NM_001089.3(ABCA3):c.624G>C (p.Arg208=)
NM_001089.3(ABCA3):c.627A>G (p.Glu209=)
NM_001089.3(ABCA3):c.636G>A (p.Leu212=)
NM_001089.3(ABCA3):c.636G>C (p.Leu212=)
NM_001089.3(ABCA3):c.639C>A (p.Ala213=) rs778504757
NM_001089.3(ABCA3):c.639C>T (p.Ala213=) rs778504757
NM_001089.3(ABCA3):c.642G>A (p.Val214=)
NM_001089.3(ABCA3):c.651T>C (p.Ala217=)
NM_001089.3(ABCA3):c.654G>A (p.Val218=)
NM_001089.3(ABCA3):c.678T>C (p.His226=)
NM_001089.3(ABCA3):c.681C>G (p.Ala227=)
NM_001089.3(ABCA3):c.684T>C (p.Asp228=)
NM_001089.3(ABCA3):c.687C>T (p.Ala229=)
NM_001089.3(ABCA3):c.717G>A (p.Thr239=)
NM_001089.3(ABCA3):c.720G>C (p.Val240=)
NM_001089.3(ABCA3):c.726C>T (p.Ile242=)
NM_001089.3(ABCA3):c.738G>A (p.Pro246=)
NM_001089.3(ABCA3):c.744G>A (p.Pro248=)
NM_001089.3(ABCA3):c.768C>T (p.Leu256=)
NM_001089.3(ABCA3):c.771G>A (p.Val257=)
NM_001089.3(ABCA3):c.780G>A (p.Gln260=)
NM_001089.3(ABCA3):c.787C>T (p.Leu263=)
NM_001089.3(ABCA3):c.792C>T (p.Pro264=)
NM_001089.3(ABCA3):c.804G>C (p.Leu268=)
NM_001089.3(ABCA3):c.813C>T (p.Phe271=)
NM_001089.3(ABCA3):c.819C>T (p.Tyr273=)
NM_001089.3(ABCA3):c.828C>T (p.Leu276=)
NM_001089.3(ABCA3):c.831C>T (p.Thr277=)
NM_001089.3(ABCA3):c.837C>T (p.Ala279=)
NM_001089.3(ABCA3):c.84A>G (p.Glu28=)
NM_001089.3(ABCA3):c.858G>A (p.Lys286=)
NM_001089.3(ABCA3):c.868C>T (p.Leu290=)
NM_001089.3(ABCA3):c.873+110G>T rs184755739
NM_001089.3(ABCA3):c.873+11G>A
NM_001089.3(ABCA3):c.873+12C>T
NM_001089.3(ABCA3):c.873+17G>A
NM_001089.3(ABCA3):c.873+8C>T
NM_001089.3(ABCA3):c.874-14G>A
NM_001089.3(ABCA3):c.874-15G>A
NM_001089.3(ABCA3):c.87C>T (p.Leu29=)
NM_001089.3(ABCA3):c.894G>A (p.Gly298=)
NM_001089.3(ABCA3):c.909G>A (p.Leu303=)
NM_001089.3(ABCA3):c.912C>T (p.His304=)
NM_001089.3(ABCA3):c.930C>T (p.Leu310=)
NM_001089.3(ABCA3):c.931T>C (p.Leu311=)
NM_001089.3(ABCA3):c.939C>T (p.Phe313=)
NM_001089.3(ABCA3):c.93G>A (p.Leu31=)
NM_001089.3(ABCA3):c.93G>C (p.Leu31=)
NM_001089.3(ABCA3):c.951C>T (p.Leu317=)
NM_001089.3(ABCA3):c.957C>T (p.Ala319=)
NM_001089.3(ABCA3):c.972C>G (p.Thr324=)
NM_001089.3(ABCA3):c.972C>T (p.Thr324=)
NM_001089.3(ABCA3):c.990+11C>T
NM_001089.3(ABCA3):c.990+12G>A
NM_001089.3(ABCA3):c.990+15G>A
NM_001089.3(ABCA3):c.990+16G>T
NM_001089.3(ABCA3):c.990+19G>A
NM_001089.3(ABCA3):c.990+20G>A
NM_001089.3(ABCA3):c.990+20G>C
NM_001089.3(ABCA3):c.990+20G>T
NM_001089.3(ABCA3):c.990+7A>C
NM_001089.3(ABCA3):c.990+8T>G
NM_001089.3(ABCA3):c.991-10T>C
NM_001089.3(ABCA3):c.991-11G>A
NM_001089.3(ABCA3):c.991-15G>T
NM_001089.3(ABCA3):c.991-4G>C
NM_001089.3(ABCA3):c.991-8C>T

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