NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
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rs149989682
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0.00304
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NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
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rs201299260
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0.00019
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NM_001089.3(ABCA3):c.128G>A (p.Arg43His)
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rs754714105
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0.00002
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NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs)
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rs756855585
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0.00002
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NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)
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rs121909181
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0.00001
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NM_001089.3(ABCA3):c.3863-98C>T
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rs189077405
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0.00001
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NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp)
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rs768483175
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0.00001
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NC_000016.10:g.2317765del
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NM_001089.3(ABCA3):c.1194G>A (p.Trp398Ter)
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NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr)
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NM_001089.3(ABCA3):c.1258C>T (p.Gln420Ter)
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NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
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NM_001089.3(ABCA3):c.1286-2A>G
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rs2141715669
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NM_001089.3(ABCA3):c.1297C>T (p.Gln433Ter)
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NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter)
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NM_001089.3(ABCA3):c.1303C>T (p.Arg435Ter)
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NM_001089.3(ABCA3):c.1403G>A (p.Trp468Ter)
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NM_001089.3(ABCA3):c.1430del (p.Gln477fs)
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NM_001089.3(ABCA3):c.143C>A (p.Ser48Ter)
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NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter)
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NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter)
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NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter)
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NM_001089.3(ABCA3):c.1470del (p.Ser491fs)
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NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)
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rs121909184
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NM_001089.3(ABCA3):c.1705G>A (p.Gly569Ser)
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NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
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rs1052598974
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NM_001089.3(ABCA3):c.1755del (p.Thr586fs)
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NM_001089.3(ABCA3):c.1890C>A (p.Tyr630Ter)
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NM_001089.3(ABCA3):c.1926del (p.Glu643fs)
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NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)
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rs2093682532
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NM_001089.3(ABCA3):c.2188_2189dup (p.Asp731fs)
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NM_001089.3(ABCA3):c.2264-2A>G
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rs2141705504
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NM_001089.3(ABCA3):c.2279T>G (p.Met760Arg)
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NM_001089.3(ABCA3):c.2404_2405del (p.Ser802fs)
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NM_001089.3(ABCA3):c.2429_2430del (p.Phe810fs)
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NM_001089.3(ABCA3):c.2708dup (p.His904fs)
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NM_001089.3(ABCA3):c.2741A>G (p.Lys914Arg)
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NM_001089.3(ABCA3):c.2769G>A (p.Trp923Ter)
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NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)
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rs1022923684
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NM_001089.3(ABCA3):c.2890G>A (p.Gly964Ser)
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NM_001089.3(ABCA3):c.2958del (p.Asp988fs)
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NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro)
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rs121909182
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NM_001089.3(ABCA3):c.3050del (p.Gly1017fs)
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NM_001089.3(ABCA3):c.3057dup (p.Asn1020Ter)
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NM_001089.3(ABCA3):c.3122T>A (p.Leu1041Ter)
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NM_001089.3(ABCA3):c.316C>T (p.Arg106Ter)
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NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter)
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rs2141696548
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NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp)
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rs369277188
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NM_001089.3(ABCA3):c.3322del (p.Met1108fs)
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rs2141695316
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NM_001089.3(ABCA3):c.3348_3360del (p.Ile1117fs)
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NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)
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rs750862009
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NM_001089.3(ABCA3):c.3632del (p.Thr1211fs)
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NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter)
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NM_001089.3(ABCA3):c.3902dup (p.Val1303fs)
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NM_001089.3(ABCA3):c.3992_3993del (p.Arg1331fs)
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NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs)
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rs2093657764
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NM_001089.3(ABCA3):c.4075C>T (p.Gln1359Ter)
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NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs)
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rs2093654880
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NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)
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NM_001089.3(ABCA3):c.430G>T (p.Glu144Ter)
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NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)
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NM_001089.3(ABCA3):c.4483_4507del (p.Val1495fs)
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NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
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rs2093650935
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NM_001089.3(ABCA3):c.464G>A (p.Arg155Gln)
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NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro)
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rs121909183
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NM_001089.3(ABCA3):c.4661G>A (p.Trp1554Ter)
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NM_001089.3(ABCA3):c.4711del (p.Ser1571fs)
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NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro)
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rs28936691
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NM_001089.3(ABCA3):c.4776del (p.Phe1592fs)
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NM_001089.3(ABCA3):c.4858C>T (p.Gln1620Ter)
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NM_001089.3(ABCA3):c.4899_4903dup (p.Phe1635Ter)
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NM_001089.3(ABCA3):c.4909+1G>A
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rs1567335355
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NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
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NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu)
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NM_001089.3(ABCA3):c.604G>A (p.Gly202Arg)
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NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)
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NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)
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NM_001089.3(ABCA3):c.784C>T (p.Gln262Ter)
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NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs)
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rs775903641
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NM_001089.3(ABCA3):c.879C>A (p.Tyr293Ter)
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NM_001089.3(ABCA3):c.914G>A (p.Trp305Ter)
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NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro)
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rs121909185
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