NM_000235.4(LIPA):c.112-304G>A
|
rs2246833
|
0.37475
|
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)
|
rs1051338
|
0.25399
|
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)
|
rs1051339
|
0.13459
|
NM_000235.4(LIPA):c.894+7A>G
|
rs12255537
|
0.00545
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_000235.4(LIPA):c.756A>C (p.Ile252=)
|
rs145037134
|
0.00170
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000235.4(LIPA):c.539-17G>A
|
rs41284118
|
0.00110
|
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.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
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.230-4T>C
|
rs778642279
|
0.00034
|
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.662A>G (p.Asp221Gly)
|
rs145163592
|
0.00014
|
NM_000235.4(LIPA):c.1068A>G (p.Leu356=)
|
rs137932212
|
0.00013
|
NM_000235.4(LIPA):c.429-8G>T
|
rs112248349
|
0.00013
|
NM_000235.4(LIPA):c.676-23T>C
|
rs140488274
|
0.00011
|
NM_000235.4(LIPA):c.111+20G>A
|
rs761942544
|
0.00009
|
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)
|
rs544080483
|
0.00009
|
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)
|
rs756016704
|
0.00008
|
NM_000235.4(LIPA):c.483T>C (p.Asn161=)
|
rs369755163
|
0.00008
|
NM_000235.4(LIPA):c.654A>G (p.Arg218=)
|
rs773232583
|
0.00008
|
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)
|
rs747984396
|
0.00007
|
NM_000235.4(LIPA):c.265C>T (p.Leu89=)
|
rs1359982254
|
0.00007
|
NM_000235.4(LIPA):c.372C>G (p.Thr124=)
|
rs532740212
|
0.00007
|
NM_000235.4(LIPA):c.1119G>A (p.Glu373=)
|
rs745997462
|
0.00006
|
NM_000235.4(LIPA):c.539-3C>T
|
rs376809019
|
0.00006
|
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.1024G>A (p.Gly342Arg)
|
rs776472526
|
0.00004
|
NM_000235.4(LIPA):c.112-17G>A
|
rs368249630
|
0.00004
|
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)
|
rs779712562
|
0.00004
|
NM_000235.4(LIPA):c.657A>G (p.Leu219=)
|
rs748624841
|
0.00004
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
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.807G>C (p.Glu269Asp)
|
rs746973509
|
0.00004
|
NM_000235.4(LIPA):c.823-17A>G
|
rs747852495
|
0.00004
|
NM_000235.4(LIPA):c.967-13C>A
|
rs762226885
|
0.00004
|
NM_000235.4(LIPA):c.111+13A>G
|
rs375237841
|
0.00003
|
NM_000235.4(LIPA):c.1110G>A (p.Pro370=)
|
rs1381270290
|
0.00003
|
NM_000235.4(LIPA):c.232C>A (p.Pro78Thr)
|
rs903291078
|
0.00003
|
NM_000235.4(LIPA):c.42C>T (p.Leu14=)
|
rs1314994550
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000235.4(LIPA):c.895-7T>C
|
rs756396844
|
0.00003
|
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)
|
rs538507117
|
0.00002
|
NM_000235.4(LIPA):c.12G>T (p.Arg4=)
|
rs773109434
|
0.00002
|
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)
|
rs749180806
|
0.00002
|
NM_000235.4(LIPA):c.303C>T (p.Asn101=)
|
rs751696669
|
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.823-13A>G
|
rs376284950
|
0.00002
|
NM_000235.4(LIPA):c.1008G>A (p.Pro336=)
|
rs376895620
|
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.1053C>T (p.Tyr351=)
|
rs754591708
|
0.00001
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)
|
rs772684869
|
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.1188G>A (p.Arg396=)
|
rs750001661
|
0.00001
|
NM_000235.4(LIPA):c.135A>T (p.Gly45=)
|
rs760789213
|
0.00001
|
NM_000235.4(LIPA):c.183G>C (p.Leu61=)
|
rs1843014996
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000235.4(LIPA):c.279T>C (p.Ser93=)
|
rs1011619050
|
0.00001
|
NM_000235.4(LIPA):c.27G>C (p.Val9=)
|
rs768712010
|
0.00001
|
NM_000235.4(LIPA):c.288C>T (p.Val96=)
|
rs1842797794
|
0.00001
|
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)
|
rs767688436
|
0.00001
|
NM_000235.4(LIPA):c.310C>T (p.Leu104=)
|
rs1040073824
|
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.390G>A (p.Lys130=)
|
rs200684543
|
0.00001
|
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)
|
rs1457072724
|
0.00001
|
NM_000235.4(LIPA):c.428+7del
|
rs773321041
|
0.00001
|
NM_000235.4(LIPA):c.428+9G>T
|
rs376015823
|
0.00001
|
NM_000235.4(LIPA):c.429-7A>T
|
rs377215072
|
0.00001
|
NM_000235.4(LIPA):c.43T>C (p.Trp15Arg)
|
rs758797771
|
0.00001
|
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)
|
rs748267444
|
0.00001
|
NM_000235.4(LIPA):c.492C>T (p.Gly164=)
|
rs761751211
|
0.00001
|
NM_000235.4(LIPA):c.558G>T (p.Gln186His)
|
rs1357894906
|
0.00001
|
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
|
rs121965086
|
0.00001
|
NM_000235.4(LIPA):c.630T>C (p.Thr210=)
|
rs1253166155
|
0.00001
|
NM_000235.4(LIPA):c.633C>T (p.Ser211=)
|
rs1326596129
|
0.00001
|
NM_000235.4(LIPA):c.63G>A (p.Gly21=)
|
rs1218489545
|
0.00001
|
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter)
|
rs771330022
|
0.00001
|
NM_000235.4(LIPA):c.669C>T (p.Leu223=)
|
rs932100691
|
0.00001
|
NM_000235.4(LIPA):c.675+11C>A
|
rs376016241
|
0.00001
|
NM_000235.4(LIPA):c.675+2T>G
|
rs1564753490
|
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.738C>T (p.His246=)
|
rs1043989532
|
0.00001
|
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile)
|
rs373857537
|
0.00001
|
NM_000235.4(LIPA):c.761A>T (p.Lys254Met)
|
rs779125462
|
0.00001
|
NM_000235.4(LIPA):c.822+1G>A
|
rs1204744283
|
0.00001
|
NM_000235.4(LIPA):c.831G>A (p.Val277=)
|
rs746566896
|
0.00001
|
NM_000235.4(LIPA):c.852T>G (p.Ser284=)
|
rs778780317
|
0.00001
|
NM_000235.4(LIPA):c.870G>A (p.Val290=)
|
rs756950169
|
0.00001
|
NM_000235.4(LIPA):c.912G>A (p.Lys304=)
|
rs541939423
|
0.00001
|
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)
|
rs754964952
|
0.00001
|
NM_000235.4(LIPA):c.987T>C (p.Asn329=)
|
rs1470771203
|
0.00001
|
NM_000235.4(LIPA):c.996C>T (p.Asp332=)
|
rs773803446
|
0.00001
|
NC_000010.10:g.(?_90974565)_(91007425_?)del
|
|
|
NC_000010.10:g.(?_90974575)_(90975776_?)del
|
|
|
NC_000010.10:g.(?_90974585)_(91222335_?)dup
|
|
|
NC_000010.10:g.(?_90982258)_(90988165_?)del
|
|
|
NC_000010.10:g.(?_91005423)_(91007415_?)del
|
|
|
NC_000010.11:g.(?_89214808)_(89216029_?)del
|
|
|
NC_000010.11:g.(?_89228190)_(89228408_?)del
|
|
|
NM_000235.4(LIPA):c.1002T>C (p.Leu334=)
|
rs1842606079
|
|
NM_000235.4(LIPA):c.1004T>C (p.Val335Ala)
|
|
|
NM_000235.4(LIPA):c.1005G>A (p.Val335=)
|
rs1564748606
|
|
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
|
|
|
NM_000235.4(LIPA):c.1020G>T (p.Trp340Cys)
|
rs1842605430
|
|
NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg)
|
rs776472526
|
|
NM_000235.4(LIPA):c.1026G>C (p.Gly342=)
|
|
|
NM_000235.4(LIPA):c.1027_1029dup (p.Gly343dup)
|
rs2133411859
|
|
NM_000235.4(LIPA):c.1028G>A (p.Gly343Asp)
|
|
|
NM_000235.4(LIPA):c.1031A>G (p.His344Arg)
|
|
|
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)
|
rs779601441
|
|
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.1035C>T (p.Asp345=)
|
rs2133411821
|
|
NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile)
|
rs1455189146
|
|
NM_000235.4(LIPA):c.1043C>T (p.Ala348Val)
|
rs757819577
|
|
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)
|
rs767207643
|
|
NM_000235.4(LIPA):c.1059C>T (p.Val353=)
|
rs1589548205
|
|
NM_000235.4(LIPA):c.1066T>C (p.Leu356=)
|
rs1281069681
|
|
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)
|
rs2133411704
|
|
NM_000235.4(LIPA):c.1071G>A (p.Leu357=)
|
rs1589548180
|
|
NM_000235.4(LIPA):c.1083C>T (p.Thr361=)
|
rs753553813
|
|
NM_000235.4(LIPA):c.1105A>G (p.Ile369Val)
|
|
|
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
|
|
|
NM_000235.4(LIPA):c.1109C>T (p.Pro370Leu)
|
|
|
NM_000235.4(LIPA):c.111+16T>C
|
|
|
NM_000235.4(LIPA):c.111+19T>A
|
|
|
NM_000235.4(LIPA):c.111+19T>C
|
rs2133467761
|
|
NM_000235.4(LIPA):c.111+8T>C
|
|
|
NM_000235.4(LIPA):c.112-18C>T
|
|
|
NM_000235.4(LIPA):c.112-1G>C
|
|
|
NM_000235.4(LIPA):c.112-4A>G
|
|
|
NM_000235.4(LIPA):c.112-6C>A
|
|
|
NM_000235.4(LIPA):c.1122T>C (p.His374=)
|
|
|
NM_000235.4(LIPA):c.1125T>G (p.Leu375=)
|
|
|
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)
|
rs778013279
|
|
NM_000235.4(LIPA):c.1140C>T (p.Gly380=)
|
rs1842601536
|
|
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)
|
|
|
NM_000235.4(LIPA):c.1158G>A (p.Arg386=)
|
|
|
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)
|
rs529668674
|
|
NM_000235.4(LIPA):c.1174A>T (p.Ile392Phe)
|
rs1842600415
|
|
NM_000235.4(LIPA):c.1179T>C (p.Asn393=)
|
rs1842600280
|
|
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile)
|
rs1842600141
|
|
NM_000235.4(LIPA):c.1193A>G (p.Tyr398Cys)
|
rs2133411240
|
|
NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)
|
|
|
NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter)
|
rs121965087
|
|
NM_000235.4(LIPA):c.130T>G (p.Trp44Gly)
|
|
|
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
|
|
|
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)
|
|
|
NM_000235.4(LIPA):c.134G>C (p.Gly45Ala)
|
|
|
NM_000235.4(LIPA):c.138C>T (p.Phe46=)
|
|
|
NM_000235.4(LIPA):c.140C>A (p.Pro47His)
|
rs775608408
|
|
NM_000235.4(LIPA):c.143G>T (p.Ser48Ile)
|
rs1289804335
|
|
NM_000235.4(LIPA):c.144T>C (p.Ser48=)
|
|
|
NM_000235.4(LIPA):c.150A>G (p.Glu50=)
|
|
|
NM_000235.4(LIPA):c.158T>A (p.Val53Asp)
|
|
|
NM_000235.4(LIPA):c.16T>C (p.Leu6=)
|
|
|
NM_000235.4(LIPA):c.174A>G (p.Gly58=)
|
|
|
NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)
|
|
|
NM_000235.4(LIPA):c.177T>C (p.Tyr59=)
|
rs2133464296
|
|
NM_000235.4(LIPA):c.183G>A (p.Leu61=)
|
|
|
NM_000235.4(LIPA):c.185G>T (p.Cys62Phe)
|
|
|
NM_000235.4(LIPA):c.186C>T (p.Cys62=)
|
rs902722005
|
|
NM_000235.4(LIPA):c.192C>T (p.Asn64=)
|
|
|
NM_000235.4(LIPA):c.195A>G (p.Arg65=)
|
|
|
NM_000235.4(LIPA):c.203A>G (p.His68Arg)
|
|
|
NM_000235.4(LIPA):c.204T>G (p.His68Gln)
|
|
|
NM_000235.4(LIPA):c.21G>C (p.Gly7=)
|
|
|
NM_000235.4(LIPA):c.225C>T (p.Asp75=)
|
rs2133464059
|
|
NM_000235.4(LIPA):c.229+10G>A
|
rs2133463997
|
|
NM_000235.4(LIPA):c.229+10G>T
|
rs2133463997
|
|
NM_000235.4(LIPA):c.229+11G>T
|
|
|
NM_000235.4(LIPA):c.229+12C>T
|
|
|
NM_000235.4(LIPA):c.229+13T>C
|
|
|
NM_000235.4(LIPA):c.229+20A>C
|
|
|
NM_000235.4(LIPA):c.229+7G>A
|
|
|
NM_000235.4(LIPA):c.229+9del
|
rs1399049755
|
|
NM_000235.4(LIPA):c.230-15A>G
|
rs199978109
|
|
NM_000235.4(LIPA):c.230-16A>C
|
|
|
NM_000235.4(LIPA):c.230-18A>C
|
|
|
NM_000235.4(LIPA):c.230-20A>G
|
|
|
NM_000235.4(LIPA):c.230-2del
|
|
|
NM_000235.4(LIPA):c.237A>G (p.Lys79=)
|
rs2133436869
|
|
NM_000235.4(LIPA):c.245T>C (p.Val82Ala)
|
rs1298273048
|
|
NM_000235.4(LIPA):c.245del (p.Val82fs)
|
|
|
NM_000235.4(LIPA):c.246C>T (p.Val82=)
|
rs2133436821
|
|
NM_000235.4(LIPA):c.249C>T (p.Phe83=)
|
rs2133436811
|
|
NM_000235.4(LIPA):c.252G>T (p.Leu84=)
|
rs2133436797
|
|
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)
|
rs797045094
|
|
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)
|
rs1589558414
|
|
NM_000235.4(LIPA):c.257A>G (p.His86Arg)
|
rs1842798350
|
|
NM_000235.4(LIPA):c.264G>A (p.Leu88=)
|
rs755847301
|
|
NM_000235.4(LIPA):c.264G>T (p.Leu88Phe)
|
|
|
NM_000235.4(LIPA):c.267G>T (p.Leu89=)
|
|
|
NM_000235.4(LIPA):c.276T>C (p.Ser92=)
|
rs2133436705
|
|
NM_000235.4(LIPA):c.282C>A (p.Asn94Lys)
|
|
|
NM_000235.4(LIPA):c.293_295del (p.Asn98_Leu99delinsIle)
|
|
|
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
|
|
|
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)
|
rs766364179
|
|
NM_000235.4(LIPA):c.30C>G (p.Val10=)
|
rs1843045493
|
|
NM_000235.4(LIPA):c.33T>C (p.Cys11=)
|
|
|
NM_000235.4(LIPA):c.345G>A (p.Val115=)
|
|
|
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)
|
rs912441212
|
|
NM_000235.4(LIPA):c.365G>T (p.Gly122Val)
|
|
|
NM_000235.4(LIPA):c.366A>G (p.Gly122=)
|
|
|
NM_000235.4(LIPA):c.369T>C (p.Asn123=)
|
|
|
NM_000235.4(LIPA):c.379C>A (p.Arg127=)
|
|
|
NM_000235.4(LIPA):c.37G>A (p.Val13Ile)
|
|
|
NM_000235.4(LIPA):c.37del (p.Val13fs)
|
rs2133468040
|
|
NM_000235.4(LIPA):c.392C>A (p.Thr131Lys)
|
|
|
NM_000235.4(LIPA):c.402T>G (p.Val134=)
|
rs2133436164
|
|
NM_000235.4(LIPA):c.404C>T (p.Ser135Phe)
|
|
|
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter)
|
rs1842794747
|
|
NM_000235.4(LIPA):c.408G>A (p.Gln136=)
|
|
|
NM_000235.4(LIPA):c.416T>G (p.Phe139Cys)
|
rs2133436092
|
|
NM_000235.4(LIPA):c.417C>T (p.Phe139=)
|
|
|
NM_000235.4(LIPA):c.423T>C (p.Ala141=)
|
rs2133436048
|
|
NM_000235.4(LIPA):c.423T>G (p.Ala141=)
|
rs2133436048
|
|
NM_000235.4(LIPA):c.428+12T>C
|
|
|
NM_000235.4(LIPA):c.428+2T>C
|
|
|
NM_000235.4(LIPA):c.428+7A>G
|
rs2133436002
|
|
NM_000235.4(LIPA):c.428+8T>G
|
rs554238064
|
|
NM_000235.4(LIPA):c.428+9G>C
|
rs376015823
|
|
NM_000235.4(LIPA):c.429-15T>C
|
|
|
NM_000235.4(LIPA):c.429-16C>T
|
|
|
NM_000235.4(LIPA):c.429-18T>C
|
|
|
NM_000235.4(LIPA):c.429-19T>C
|
|
|
NM_000235.4(LIPA):c.429-8G>A
|
rs112248349
|
|
NM_000235.4(LIPA):c.42C>G (p.Leu14=)
|
rs1314994550
|
|
NM_000235.4(LIPA):c.432T>C (p.Tyr144=)
|
|
|
NM_000235.4(LIPA):c.444A>G (p.Ala148=)
|
|
|
NM_000235.4(LIPA):c.450T>C (p.Tyr150=)
|
|
|
NM_000235.4(LIPA):c.459A>G (p.Pro153=)
|
|
|
NM_000235.4(LIPA):c.468T>C (p.Ile156=)
|
rs1589556945
|
|
NM_000235.4(LIPA):c.471C>T (p.Asn157=)
|
|
|
NM_000235.4(LIPA):c.478C>T (p.Leu160=)
|
|
|
NM_000235.4(LIPA):c.482del (p.Asn161fs)
|
rs762559980
|
|
NM_000235.4(LIPA):c.489T>C (p.Thr163=)
|
rs2133433185
|
|
NM_000235.4(LIPA):c.48C>T (p.Thr16=)
|
|
|
NM_000235.4(LIPA):c.498A>G (p.Glu166=)
|
|
|
NM_000235.4(LIPA):c.504G>T (p.Val168=)
|
rs2133433160
|
|
NM_000235.4(LIPA):c.507T>C (p.Tyr169=)
|
|
|
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
|
|
|
NM_000235.4(LIPA):c.511del (p.Val171fs)
|
|
|
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)
|
rs1842777072
|
|
NM_000235.4(LIPA):c.534T>C (p.Thr178=)
|
rs746817834
|
|
NM_000235.4(LIPA):c.538+17G>A
|
|
|
NM_000235.4(LIPA):c.538+20C>T
|
|
|
NM_000235.4(LIPA):c.538+4T>A
|
rs779872404
|
|
NM_000235.4(LIPA):c.538+5G>A
|
|
|
NM_000235.4(LIPA):c.538+7A>T
|
rs2133432994
|
|
NM_000235.4(LIPA):c.539-11T>C
|
|
|
NM_000235.4(LIPA):c.539-12T>C
|
|
|
NM_000235.4(LIPA):c.539-16T>C
|
|
|
NM_000235.4(LIPA):c.539-20dup
|
|
|
NM_000235.4(LIPA):c.539-2A>G
|
rs762143630
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
NM_000235.4(LIPA):c.539-5C>G
|
|
|
NM_000235.4(LIPA):c.539-5C>T
|
rs2297472
|
|
NM_000235.4(LIPA):c.539-6_539-5delinsCT
|
rs1589555777
|
|
NM_000235.4(LIPA):c.539-7C>G
|
|
|
NM_000235.4(LIPA):c.539-7C>T
|
|
|
NM_000235.4(LIPA):c.539-8T>C
|
|
|
NM_000235.4(LIPA):c.547G>T (p.Ala183Ser)
|
|
|
NM_000235.4(LIPA):c.549A>T (p.Ala183=)
|
rs746094174
|
|
NM_000235.4(LIPA):c.558G>A (p.Gln186=)
|
|
|
NM_000235.4(LIPA):c.566A>C (p.Glu189Ala)
|
rs2133429645
|
|
NM_000235.4(LIPA):c.56C>T (p.Ser19Phe)
|
|
|
NM_000235.4(LIPA):c.591T>G (p.Phe197Leu)
|
|
|
NM_000235.4(LIPA):c.594dup (p.Ala199fs)
|
rs780495201
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
NM_000235.4(LIPA):c.600G>C (p.Leu200=)
|
|
|
NM_000235.4(LIPA):c.600_603dup (p.Pro202fs)
|
rs2133429569
|
|
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)
|
|
|
NM_000235.4(LIPA):c.615C>A (p.Ser205=)
|
|
|
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.617_619dup (p.Val206dup)
|
rs2133429462
|
|
NM_000235.4(LIPA):c.618C>G (p.Val206=)
|
rs763651849
|
|
NM_000235.4(LIPA):c.618C>T (p.Val206=)
|
rs763651849
|
|
NM_000235.4(LIPA):c.618_627del (p.Ala207fs)
|
|
|
NM_000235.4(LIPA):c.618dup (p.Ala207fs)
|
|
|
NM_000235.4(LIPA):c.619G>A (p.Ala207Thr)
|
|
|
NM_000235.4(LIPA):c.621C>A (p.Ala207=)
|
rs373314455
|
|
NM_000235.4(LIPA):c.624C>G (p.Phe208Leu)
|
|
|
NM_000235.4(LIPA):c.636T>C (p.Pro212=)
|
|
|
NM_000235.4(LIPA):c.637A>T (p.Met213Leu)
|
|
|
NM_000235.4(LIPA):c.648A>C (p.Leu216Phe)
|
|
|
NM_000235.4(LIPA):c.653G>A (p.Arg218Gln)
|
|
|
NM_000235.4(LIPA):c.656T>G (p.Leu219Ter)
|
rs1554865576
|
|
NM_000235.4(LIPA):c.658C>T (p.Pro220Ser)
|
|
|
NM_000235.4(LIPA):c.660A>C (p.Pro220=)
|
rs2133429315
|
|
NM_000235.4(LIPA):c.660A>G (p.Pro220=)
|
rs2133429315
|
|
NM_000235.4(LIPA):c.666T>A (p.His222Gln)
|
|
|
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe)
|
rs1161698310
|
|
NM_000235.4(LIPA):c.669C>A (p.Leu223=)
|
rs932100691
|
|
NM_000235.4(LIPA):c.675+11C>T
|
|
|
NM_000235.4(LIPA):c.675+12C>T
|
|
|
NM_000235.4(LIPA):c.675+13C>T
|
|
|
NM_000235.4(LIPA):c.675+19T>C
|
|
|
NM_000235.4(LIPA):c.675+7G>C
|
rs2133429253
|
|
NM_000235.4(LIPA):c.676-14T>A
|
rs886047471
|
|
NM_000235.4(LIPA):c.676-19G>A
|
rs2133427422
|
|
NM_000235.4(LIPA):c.676-19G>C
|
|
|
NM_000235.4(LIPA):c.676-19G>T
|
|
|
NM_000235.4(LIPA):c.676-2A>T
|
rs747508159
|
|
NM_000235.4(LIPA):c.676-4G>T
|
|
|
NM_000235.4(LIPA):c.676-9A>G
|
rs2133427412
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
NM_000235.4(LIPA):c.684del (p.Phe228fs)
|
rs770074196
|
|
NM_000235.4(LIPA):c.687A>G (p.Gly229=)
|
|
|
NM_000235.4(LIPA):c.690C>T (p.Asp230=)
|
rs1409978506
|
|
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
|
|
|
NM_000235.4(LIPA):c.697T>C (p.Phe233Leu)
|
|
|
NM_000235.4(LIPA):c.699T>C (p.Phe233=)
|
|
|
NM_000235.4(LIPA):c.69A>G (p.Gly23=)
|
rs1843044295
|
|
NM_000235.4(LIPA):c.6A>G (p.Lys2=)
|
rs138408240
|
|
NM_000235.4(LIPA):c.705C>G (p.Pro235=)
|
rs1203005431
|
|
NM_000235.4(LIPA):c.705C>T (p.Pro235=)
|
|
|
NM_000235.4(LIPA):c.712G>A (p.Ala238Thr)
|
rs1842732425
|
|
NM_000235.4(LIPA):c.714G>T (p.Ala238=)
|
|
|
NM_000235.4(LIPA):c.718T>C (p.Leu240=)
|
|
|
NM_000235.4(LIPA):c.723G>A (p.Lys241=)
|
|
|
NM_000235.4(LIPA):c.729G>T (p.Leu243=)
|
rs1422320148
|
|
NM_000235.4(LIPA):c.732T>A (p.Gly244=)
|
|
|
NM_000235.4(LIPA):c.735C>T (p.Thr245=)
|
|
|
NM_000235.4(LIPA):c.739G>A (p.Val247Ile)
|
|
|
NM_000235.4(LIPA):c.744C>T (p.Cys248=)
|
rs761924047
|
|
NM_000235.4(LIPA):c.749A>C (p.His250Pro)
|
rs747792993
|
|
NM_000235.4(LIPA):c.749A>G (p.His250Arg)
|
|
|
NM_000235.4(LIPA):c.770G>A (p.Cys257Tyr)
|
|
|
NM_000235.4(LIPA):c.771T>C (p.Cys257=)
|
|
|
NM_000235.4(LIPA):c.771_774del (p.Leu256_Cys257insTer)
|
rs2133427073
|
|
NM_000235.4(LIPA):c.780_781del (p.Cys261fs)
|
|
|
NM_000235.4(LIPA):c.781T>C (p.Cys261Arg)
|
rs1842730482
|
|
NM_000235.4(LIPA):c.78dup (p.Thr27fs)
|
|
|
NM_000235.4(LIPA):c.792G>C (p.Leu264=)
|
rs780855549
|
|
NM_000235.4(LIPA):c.792G>T (p.Leu264=)
|
|
|
NM_000235.4(LIPA):c.798A>T (p.Gly266=)
|
rs1589554283
|
|
NM_000235.4(LIPA):c.804del (p.Asn268fs)
|
rs1410809018
|
|
NM_000235.4(LIPA):c.813T>C (p.Asn271=)
|
rs1842729565
|
|
NM_000235.4(LIPA):c.819T>C (p.Asn273=)
|
|
|
NM_000235.4(LIPA):c.822+13A>T
|
|
|
NM_000235.4(LIPA):c.822+14T>C
|
|
|
NM_000235.4(LIPA):c.822+14_822+15insGC
|
|
|
NM_000235.4(LIPA):c.822+16del
|
|
|
NM_000235.4(LIPA):c.822+1G>T
|
|
|
NM_000235.4(LIPA):c.822+37T>A
|
|
|
NM_000235.4(LIPA):c.822+37del
|
rs752384602
|
|
NM_000235.4(LIPA):c.822+37dup
|
rs752384602
|
|
NM_000235.4(LIPA):c.822+38A>T
|
|
|
NM_000235.4(LIPA):c.822+7A>G
|
|
|
NM_000235.4(LIPA):c.823-14T>C
|
|
|
NM_000235.4(LIPA):c.823-14del
|
|
|
NM_000235.4(LIPA):c.823-15G>T
|
|
|
NM_000235.4(LIPA):c.823-1G>A
|
|
|
NM_000235.4(LIPA):c.823-2A>G
|
|
|
NM_000235.4(LIPA):c.823-4G>T
|
|
|
NM_000235.4(LIPA):c.831G>T (p.Val277=)
|
|
|
NM_000235.4(LIPA):c.837A>G (p.Val279=)
|
rs2133424899
|
|
NM_000235.4(LIPA):c.840T>C (p.Tyr280=)
|
|
|
NM_000235.4(LIPA):c.843A>T (p.Thr281=)
|
|
|
NM_000235.4(LIPA):c.84T>C (p.Ala28=)
|
rs2133467876
|
|
NM_000235.4(LIPA):c.850T>C (p.Ser284Pro)
|
rs2133424861
|
|
NM_000235.4(LIPA):c.853C>T (p.Pro285Ser)
|
rs1564752079
|
|
NM_000235.4(LIPA):c.854del (p.Pro285fs)
|
rs2133424815
|
|
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.884A>C (p.His295Pro)
|
|
|
NM_000235.4(LIPA):c.885C>T (p.His295=)
|
rs886044197
|
|
NM_000235.4(LIPA):c.890dup (p.Ser297fs)
|
|
|
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)
|
rs1554865206
|
|
NM_000235.4(LIPA):c.892del (p.Gln298fs)
|
|
|
NM_000235.4(LIPA):c.894+10C>T
|
|
|
NM_000235.4(LIPA):c.894+11C>T
|
|
|
NM_000235.4(LIPA):c.894+17T>C
|
|
|
NM_000235.4(LIPA):c.894+18G>A
|
|
|
NM_000235.4(LIPA):c.894+1G>A
|
rs1564751995
|
|
NM_000235.4(LIPA):c.894+8T>C
|
|
|
NM_000235.4(LIPA):c.894G>C (p.Gln298His)
|
rs116928232
|
|
NM_000235.4(LIPA):c.895-13A>G
|
|
|
NM_000235.4(LIPA):c.895-14T>C
|
|
|
NM_000235.4(LIPA):c.895-16A>G
|
|
|
NM_000235.4(LIPA):c.895-20C>G
|
|
|
NM_000235.4(LIPA):c.895-20C>T
|
|
|
NM_000235.4(LIPA):c.895-3T>A
|
|
|
NM_000235.4(LIPA):c.895-8_895-6del
|
rs2133413717
|
|
NM_000235.4(LIPA):c.897T>C (p.Ala299=)
|
rs2133413699
|
|
NM_000235.4(LIPA):c.8T>G (p.Met3Arg)
|
rs1589573225
|
|
NM_000235.4(LIPA):c.904T>G (p.Phe302Val)
|
rs1187189503
|
|
NM_000235.4(LIPA):c.906C>T (p.Phe302=)
|
rs1842621631
|
|
NM_000235.4(LIPA):c.921C>G (p.Ala307=)
|
|
|
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)
|
rs2133413584
|
|
NM_000235.4(LIPA):c.939T>C (p.Ser313=)
|
rs1842621064
|
|
NM_000235.4(LIPA):c.93T>C (p.Pro31=)
|
|
|
NM_000235.4(LIPA):c.940G>A (p.Ala314Thr)
|
|
|
NM_000235.4(LIPA):c.944A>G (p.Lys315Arg)
|
|
|
NM_000235.4(LIPA):c.948T>C (p.Asn316=)
|
rs2133413524
|
|
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter)
|
rs760413481
|
|
NM_000235.4(LIPA):c.956A>C (p.His319Pro)
|
rs1842620342
|
|
NM_000235.4(LIPA):c.956A>G (p.His319Arg)
|
rs1842620342
|
|
NM_000235.4(LIPA):c.960C>T (p.Tyr320=)
|
rs1554864404
|
|
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)
|
|
|
NM_000235.4(LIPA):c.966+10T>G
|
rs2133413429
|
|
NM_000235.4(LIPA):c.966+12A>T
|
|
|
NM_000235.4(LIPA):c.966+14T>C
|
|
|
NM_000235.4(LIPA):c.966+15C>A
|
|
|
NM_000235.4(LIPA):c.966+15C>T
|
|
|
NM_000235.4(LIPA):c.967-13C>T
|
|
|
NM_000235.4(LIPA):c.967-14C>T
|
rs2133412154
|
|
NM_000235.4(LIPA):c.967-17G>T
|
|
|
NM_000235.4(LIPA):c.980C>T (p.Thr327Ile)
|
|
|
NM_000235.4(LIPA):c.980del (p.Thr327fs)
|
rs2133412083
|
|
NM_000235.4(LIPA):c.981A>G (p.Thr327=)
|
|
|
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)
|
|
|
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
|
|
|
NM_000235.4(LIPA):c.99A>G (p.Thr33=)
|
|
|