NC_000023.10:g.(?_152959991)_(152960815_?)del
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NC_000023.11:g.(?_153688555)_(153688856_?)del
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NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)
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rs782433037
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NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp)
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rs122453116
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NM_005629.4(SLC6A8):c.1016+2T>C
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rs1557045066
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NM_005629.4(SLC6A8):c.1016+2_1016+5del
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rs2148363006
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NM_005629.4(SLC6A8):c.1037_1038del (p.Leu346fs)
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rs2148363178
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NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs)
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rs2091469248
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NM_005629.4(SLC6A8):c.1055G>A (p.Ser352Asn)
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rs2148363211
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NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del)
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rs886041471
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NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs)
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rs1569539381
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NM_005629.4(SLC6A8):c.1108C>T (p.Gln370Ter)
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rs2148363243
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NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
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NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg)
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rs122453114
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NM_005629.4(SLC6A8):c.1142-2A>C
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rs1603217176
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NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
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rs1557045250
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NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu)
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rs2148363661
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NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
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rs1557045267
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NM_005629.4(SLC6A8):c.1210del (p.Ala404fs)
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rs2148363723
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NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)
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rs80338740
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NM_005629.4(SLC6A8):c.1235_1248del (p.Leu412fs)
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NM_005629.4(SLC6A8):c.1254+1G>A
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rs1557045333
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NM_005629.4(SLC6A8):c.1255-2A>G
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rs886042005
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NM_005629.4(SLC6A8):c.1260_1281del (p.Gly421fs)
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rs2091473920
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NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp)
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rs1085308011
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NM_005629.4(SLC6A8):c.1283del (p.Gly428fs)
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rs2148363957
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NM_005629.4(SLC6A8):c.1289_1290del (p.Leu430fs)
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NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs)
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rs886041818
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NM_005629.4(SLC6A8):c.1292_1302del (p.Asp431fs)
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rs2148363973
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NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)
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rs2091474617
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NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs)
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NM_005629.4(SLC6A8):c.1393-12_1395del
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rs2148364124
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NM_005629.4(SLC6A8):c.1394_1399del (p.Gly465_Met467delinsVal)
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rs2148364156
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NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
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rs1603217473
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NM_005629.4(SLC6A8):c.1411C>T (p.Gln471Ter)
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rs1557045475
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NM_005629.4(SLC6A8):c.1422_1434delinsTTGACTACTACTACAG (p.Tyr475_Ala478delinsTer)
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rs886041845
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NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter)
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rs1239466041
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NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs)
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rs2091475771
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NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter)
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rs1569539443
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NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter)
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NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)
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rs122453118
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NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter)
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NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter)
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rs143916832
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NM_005629.4(SLC6A8):c.1495+2T>G
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NM_005629.4(SLC6A8):c.1495+5G>C
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NM_005629.4(SLC6A8):c.1496-1_1510del
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rs2148364395
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NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
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NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
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NM_005629.4(SLC6A8):c.1536del (p.Tyr513fs)
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NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
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NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
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rs122453113
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NM_005629.4(SLC6A8):c.1551del (p.Trp518fs)
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rs2148364489
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NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter)
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NM_005629.4(SLC6A8):c.1556_1557insTTTC (p.Met519fs)
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NM_005629.4(SLC6A8):c.1583del (p.Pro528fs)
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rs1557045581
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NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter)
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rs140601882
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NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
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rs397515558
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NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)
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NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter)
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rs1569539466
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NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)
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rs397515559
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NM_005629.4(SLC6A8):c.1667G>A (p.Trp556Ter)
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NM_005629.4(SLC6A8):c.1668G>A (p.Trp556Ter)
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rs1557045704
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NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)
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rs1603217815
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NM_005629.4(SLC6A8):c.249C>A (p.Tyr83Ter)
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rs2148358634
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NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)
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rs122453115
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NM_005629.4(SLC6A8):c.263-1G>A
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rs1557044165
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NM_005629.4(SLC6A8):c.263-2A>G
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rs1569539244
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NM_005629.4(SLC6A8):c.267_268del (p.Phe90fs)
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rs2091448566
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NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
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rs80338739
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NM_005629.4(SLC6A8):c.356del (p.Gly119fs)
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rs1603214377
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NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)
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rs122453117
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NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs)
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rs2091455005
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NM_005629.4(SLC6A8):c.444_445del (p.Ile149fs)
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rs2148361002
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NM_005629.4(SLC6A8):c.453_454insGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGCTCATGGTG (p.Leu152delinsAlaGluAlaGlyGluSerLeuGluAlaGlyLysGlnArgLeuGlnTer)
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rs2148361006
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NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)
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rs1603215013
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NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
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rs1557043770
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NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs)
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rs1557044442
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NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp)
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rs1557044461
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NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
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rs1603215223
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NM_005629.4(SLC6A8):c.627del (p.Val210fs)
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rs2148361177
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NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter)
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NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs)
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NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter)
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rs2091458828
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NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter)
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NM_005629.4(SLC6A8):c.748_749del (p.Val250fs)
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rs1557044569
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NM_005629.4(SLC6A8):c.755del (p.Lys252fs)
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NM_005629.4(SLC6A8):c.844del (p.Leu282fs)
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rs2148362786
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NM_005629.4(SLC6A8):c.856del (p.Leu286fs)
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NM_005629.4(SLC6A8):c.859del (p.Asp287fs)
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NM_005629.4(SLC6A8):c.878_879del (p.Leu293fs)
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NM_005629.4(SLC6A8):c.913-1G>A
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NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)
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rs2091467532
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NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
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rs1603216806
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NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)
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rs1569539359
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NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs)
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NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg)
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rs797045972
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NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)
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rs1060502808
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NM_005629.4(SLC6A8):c.980dup (p.Ser329fs)
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rs2148362976
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NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]
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