NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)
|
rs776472526
|
0.00004
|
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.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.1120C>T (p.His374Tyr)
|
rs367664486
|
0.00001
|
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys)
|
rs766062562
|
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.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000235.4(LIPA):c.386A>G (p.His129Arg)
|
rs1423914418
|
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.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
|
|
|
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.1033G>A (p.Asp345Asn)
|
rs1446626293
|
|
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)
|
rs767207643
|
|
NM_000235.4(LIPA):c.111+2T>G
|
rs1554869292
|
|
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)
|
rs529668674
|
|
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
|
|
|
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.226A>T (p.Lys76Ter)
|
|
|
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.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.417C>A (p.Phe139Leu)
|
rs1589558062
|
|
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
|
|
|
NM_000235.4(LIPA):c.428+1G>A
|
rs1554866004
|
|
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.524A>C (p.Gln175Pro)
|
|
|
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser)
|
rs1589556901
|
|
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.676-2A>G
|
rs747508159
|
|
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.866C>G (p.Ser289Cys)
|
rs1589553174
|
|
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)
|
|
|
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.931G>A (p.Gly311Arg)
|
rs1589548972
|
|
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter)
|
rs1554864404
|
|