NM_000235.4(LIPA):c.-1-64G>T
|
rs2250781
|
0.58801
|
NM_000235.4(LIPA):c.-2+36G>A
|
rs1332328
|
0.37602
|
NM_000235.4(LIPA):c.675+62A>C
|
rs2297473
|
0.32967
|
NM_000235.4(LIPA):c.676-42G>A
|
rs1556478
|
0.32749
|
NM_000235.4(LIPA):c.966+46C>T
|
rs3802656
|
0.29308
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_000235.4(LIPA):c.*909T>A
|
rs1131706
|
0.21939
|
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
|
rs1051339
|
0.13459
|
NM_000235.4(LIPA):c.*1093C>T
|
rs13500
|
0.11269
|
NM_000235.4(LIPA):c.*1187C>A
|
rs78931290
|
0.02896
|
NM_000235.4(LIPA):c.676-72G>C
|
rs113450779
|
0.00606
|
NM_000235.4(LIPA):c.894+7A>G
|
rs12255537
|
0.00545
|
NM_000235.4(LIPA):c.*608C>T
|
rs9664201
|
0.00443
|
NM_000235.4(LIPA):c.*876C>G
|
rs141445686
|
0.00341
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000235.4(LIPA):c.112-6C>T
|
rs141302830
|
0.00063
|
NM_000235.4(LIPA):c.*804C>T
|
rs886047468
|
0.00060
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00046
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000235.4(LIPA):c.676-25T>C
|
rs150415734
|
0.00031
|
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly)
|
rs149459699
|
0.00027
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
NM_000235.4(LIPA):c.966+3A>T
|
rs201242614
|
0.00015
|
NM_000235.4(LIPA):c.*842G>A
|
rs187138384
|
0.00014
|
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)
|
rs145163592
|
0.00014
|
NM_000235.4(LIPA):c.1068A>G (p.Leu356=)
|
rs137932212
|
0.00013
|
NM_000235.4(LIPA):c.*557A>C
|
rs942666524
|
0.00009
|
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)
|
rs544080483
|
0.00009
|
NM_000235.4(LIPA):c.539-6T>C
|
rs201898154
|
0.00009
|
NM_000235.4(LIPA):c.*939G>A
|
rs774820637
|
0.00008
|
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)
|
rs756016704
|
0.00008
|
NM_000235.4(LIPA):c.-2+7G>A
|
rs879494219
|
0.00007
|
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)
|
rs747984396
|
0.00007
|
NM_000235.4(LIPA):c.*151C>T
|
rs767578516
|
0.00006
|
NM_000235.4(LIPA):c.*573T>A
|
rs769179666
|
0.00006
|
NM_000235.4(LIPA):c.*921C>T
|
rs1179037686
|
0.00006
|
NM_000235.4(LIPA):c.1119G>A (p.Glu373=)
|
rs745997462
|
0.00006
|
NM_000235.4(LIPA):c.618C>A (p.Val206=)
|
rs763651849
|
0.00006
|
NM_000235.4(LIPA):c.*858A>C
|
rs886047467
|
0.00005
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)
|
rs140686447
|
0.00005
|
NM_000235.4(LIPA):c.*458C>T
|
rs1006504114
|
0.00004
|
NM_000235.4(LIPA):c.*991T>G
|
rs886047466
|
0.00004
|
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)
|
rs776472526
|
0.00004
|
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)
|
rs779712562
|
0.00004
|
NM_000235.4(LIPA):c.76C>T (p.Leu26=)
|
rs377437637
|
0.00004
|
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)
|
rs267607218
|
0.00004
|
NM_000235.4(LIPA):c.967-13C>A
|
rs762226885
|
0.00004
|
NM_000235.4(LIPA):c.*184T>C
|
rs1338962406
|
0.00003
|
NM_000235.4(LIPA):c.111+13A>G
|
rs375237841
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)
|
rs749180806
|
0.00002
|
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)
|
rs771904218
|
0.00002
|
NM_000235.4(LIPA):c.538+6T>C
|
rs772236690
|
0.00002
|
NM_000235.4(LIPA):c.579G>A (p.Arg193=)
|
rs777978533
|
0.00002
|
NM_000235.4(LIPA):c.*1147C>G
|
rs1245823235
|
0.00001
|
NM_000235.4(LIPA):c.*385C>A
|
rs763288984
|
0.00001
|
NM_000235.4(LIPA):c.*494A>G
|
rs1003454769
|
0.00001
|
NM_000235.4(LIPA):c.*949C>T
|
rs755914073
|
0.00001
|
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)
|
rs550415126
|
0.00001
|
NM_000235.4(LIPA):c.1050C>T (p.Val350=)
|
rs1249046123
|
0.00001
|
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)
|
rs772684869
|
0.00001
|
NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn)
|
rs776294856
|
0.00001
|
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)
|
rs747214463
|
0.00001
|
NM_000235.4(LIPA):c.111+1G>A
|
rs762960877
|
0.00001
|
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)
|
rs367664486
|
0.00001
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys)
|
rs766062562
|
0.00001
|
NM_000235.4(LIPA):c.1171A>G (p.Ile391Val)
|
rs1449941002
|
0.00001
|
NM_000235.4(LIPA):c.1188G>A (p.Arg396=)
|
rs750001661
|
0.00001
|
NM_000235.4(LIPA):c.229+6G>A
|
rs778866130
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)
|
rs767688436
|
0.00001
|
NM_000235.4(LIPA):c.318C>T (p.Phe106=)
|
rs1438679981
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000235.4(LIPA):c.386A>G (p.His129Arg)
|
rs1423914418
|
0.00001
|
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)
|
rs1457072724
|
0.00001
|
NM_000235.4(LIPA):c.428+3A>G
|
rs369626938
|
0.00001
|
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)
|
rs748267444
|
0.00001
|
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
|
rs121965086
|
0.00001
|
NM_000235.4(LIPA):c.605C>T (p.Pro202Leu)
|
rs1393039920
|
0.00001
|
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)
|
rs138408240
|
0.00001
|
NM_000235.4(LIPA):c.713C>T (p.Ala238Val)
|
rs886047470
|
0.00001
|
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile)
|
rs373857537
|
0.00001
|
NM_000235.4(LIPA):c.822+1G>A
|
rs1204744283
|
0.00001
|
NM_000235.4(LIPA):c.863C>T (p.Thr288Ile)
|
rs1306336545
|
0.00001
|
NM_000235.4(LIPA):c.871C>G (p.Gln291Glu)
|
rs754124986
|
0.00001
|
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)
|
rs754964952
|
0.00001
|
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu)
|
rs1326903845
|
0.00001
|
NC_000010.11:g.(?_89214808)_(89216029_?)del
|
|
|
NC_000010.11:g.(?_89228180)_(89228418_?)del
|
|
|
NC_000010.11:g.(?_89228190)_(89228408_?)del
|
|
|
NM_000235.4(LIPA):c.*1091T>C
|
rs886047465
|
|
NM_000235.4(LIPA):c.*1205T>G
|
rs886047464
|
|
NM_000235.4(LIPA):c.*383A>G
|
rs1842593097
|
|
NM_000235.4(LIPA):c.*618G>C
|
rs886047469
|
|
NM_000235.4(LIPA):c.*841C>G
|
rs116074523
|
|
NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp)
|
rs776472526
|
|
NM_000235.4(LIPA):c.1025G>T (p.Gly342Val)
|
rs768826988
|
|
NM_000235.4(LIPA):c.1032C>T (p.His344=)
|
rs779601441
|
|
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)
|
rs1446626293
|
|
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)
|
rs767207643
|
|
NM_000235.4(LIPA):c.1066T>C (p.Leu356=)
|
rs1281069681
|
|
NM_000235.4(LIPA):c.111+2T>G
|
rs1554869292
|
|
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)
|
rs778013279
|
|
NM_000235.4(LIPA):c.1135T>A (p.Trp379Arg)
|
|
|
NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro)
|
rs1334456405
|
|
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)
|
rs529668674
|
|
NM_000235.4(LIPA):c.1167T>C (p.Asn389=)
|
rs1842600689
|
|
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)
|
rs2133411275
|
|
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile)
|
rs1842600141
|
|
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
|
|
|
NM_000235.4(LIPA):c.140C>A (p.Pro47His)
|
rs775608408
|
|
NM_000235.4(LIPA):c.149A>G (p.Glu50Gly)
|
rs772137750
|
|
NM_000235.4(LIPA):c.158T>G (p.Val53Gly)
|
rs749625288
|
|
NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)
|
rs1843015393
|
|
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)
|
rs768411839
|
|
NM_000235.4(LIPA):c.170A>T (p.Asp57Val)
|
rs768411839
|
|
NM_000235.4(LIPA):c.1A>G (p.Met1Val)
|
rs767039444
|
|
NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000235.4(LIPA):c.230-15A>G
|
rs199978109
|
|
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)
|
rs797045094
|
|
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)
|
rs797045094
|
|
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)
|
rs1589558414
|
|
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)
|
rs2133436727
|
|
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)
|
rs1554866097
|
|
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)
|
rs766364179
|
|
NM_000235.4(LIPA):c.313_314del (p.Gly105fs)
|
|
|
NM_000235.4(LIPA):c.316T>A (p.Phe106Ile)
|
rs773533216
|
|
NM_000235.4(LIPA):c.356A>G (p.Asn119Ser)
|
rs1589558218
|
|
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)
|
rs912441212
|
|
NM_000235.4(LIPA):c.377C>T (p.Ser126Phe)
|
rs1589558169
|
|
NM_000235.4(LIPA):c.384del (p.Lys128fs)
|
|
|
NM_000235.4(LIPA):c.386A>C (p.His129Pro)
|
rs1423914418
|
|
NM_000235.4(LIPA):c.391A>G (p.Thr131Ala)
|
rs1842795359
|
|
NM_000235.4(LIPA):c.417C>A (p.Phe139Leu)
|
rs1589558062
|
|
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
|
|
|
NM_000235.4(LIPA):c.425T>C (p.Phe142Ser)
|
|
|
NM_000235.4(LIPA):c.428+1G>A
|
rs1554866004
|
|
NM_000235.4(LIPA):c.428+8T>G
|
rs554238064
|
|
NM_000235.4(LIPA):c.435T>A (p.Asp145Glu)
|
rs760901300
|
|
NM_000235.4(LIPA):c.447del (p.Lys149fs)
|
|
|
NM_000235.4(LIPA):c.479_480del (p.Leu160fs)
|
|
|
NM_000235.4(LIPA):c.482del (p.Asn161fs)
|
rs762559980
|
|
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro)
|
rs886047472
|
|
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)
|
rs1842777072
|
|
NM_000235.4(LIPA):c.524A>C (p.Gln175Pro)
|
|
|
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser)
|
rs1589556901
|
|
NM_000235.4(LIPA):c.538+4T>A
|
rs779872404
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
NM_000235.4(LIPA):c.539-5C>T
|
rs2297472
|
|
NM_000235.4(LIPA):c.594dup (p.Ala199fs)
|
rs780495201
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
NM_000235.4(LIPA):c.605_618del (p.Pro202fs)
|
|
|
NM_000235.4(LIPA):c.615C>G (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.616G>A (p.Val206Ile)
|
rs756878837
|
|
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)
|
rs2133429402
|
|
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe)
|
rs1161698310
|
|
NM_000235.4(LIPA):c.676-14T>A
|
rs886047471
|
|
NM_000235.4(LIPA):c.676-2A>G
|
rs747508159
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
NM_000235.4(LIPA):c.684del (p.Phe228fs)
|
rs770074196
|
|
NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)
|
|
|
NM_000235.4(LIPA):c.805G>T (p.Glu269Ter)
|
rs1842729716
|
|
NM_000235.4(LIPA):c.815T>A (p.Leu272Ter)
|
rs1842729511
|
|
NM_000235.4(LIPA):c.826A>T (p.Arg276Ter)
|
rs1842714308
|
|
NM_000235.4(LIPA):c.851C>T (p.Ser284Phe)
|
rs1261613499
|
|
NM_000235.4(LIPA):c.866C>G (p.Ser289Cys)
|
rs1589553174
|
|
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)
|
|
|
NM_000235.4(LIPA):c.877A>C (p.Met293Leu)
|
rs764343762
|
|
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)
|
rs756310979
|
|
NM_000235.4(LIPA):c.883C>T (p.His295Tyr)
|
rs1554865214
|
|
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)
|
rs1554865206
|
|
NM_000235.4(LIPA):c.894+2T>C
|
rs1554865199
|
|
NM_000235.4(LIPA):c.894G>C (p.Gln298His)
|
rs116928232
|
|
NM_000235.4(LIPA):c.922T>G (p.Phe308Val)
|
rs751625944
|
|
NM_000235.4(LIPA):c.925G>T (p.Asp309Tyr)
|
rs2133413594
|
|
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)
|
rs2133413584
|
|
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)
|
rs1589548972
|
|
NM_000235.4(LIPA):c.947A>G (p.Asn316Ser)
|
|
|
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter)
|
rs1554864404
|
|