NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000271.5(NPC1):c.1947+6C>G
|
rs745432812
|
0.00026
|
NM_000271.5(NPC1):c.1480G>A (p.Val494Met)
|
rs199812609
|
0.00021
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly)
|
rs1373857908
|
0.00015
|
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)
|
rs140149624
|
0.00014
|
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn)
|
rs201021988
|
0.00014
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00013
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
NM_000271.5(NPC1):c.398T>G (p.Val133Gly)
|
rs375039992
|
0.00011
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000271.5(NPC1):c.181-3A>G
|
rs371126954
|
0.00010
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)
|
rs140527006
|
0.00010
|
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His)
|
rs563385810
|
0.00009
|
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln)
|
rs151305963
|
0.00009
|
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp)
|
rs139485263
|
0.00009
|
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr)
|
rs572337787
|
0.00009
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn)
|
rs1416446081
|
0.00006
|
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr)
|
rs139297968
|
0.00006
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp)
|
rs141243713
|
0.00006
|
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser)
|
rs549048534
|
0.00006
|
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)
|
rs752896980
|
0.00006
|
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala)
|
rs773448915
|
0.00005
|
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln)
|
rs373390781
|
0.00004
|
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn)
|
rs761903316
|
0.00004
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000271.5(NPC1):c.1581T>A (p.Ser527Arg)
|
rs769935106
|
0.00004
|
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys)
|
rs750033860
|
0.00004
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala)
|
rs776873102
|
0.00004
|
NM_000271.5(NPC1):c.2456G>A (p.Arg819His)
|
rs751952669
|
0.00004
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000271.5(NPC1):c.2911+4C>T
|
rs186588103
|
0.00004
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
NM_000271.5(NPC1):c.3506G>T (p.Ser1169Ile)
|
rs139612110
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)
|
rs376741451
|
0.00003
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
0.00003
|
NM_000271.5(NPC1):c.1756G>A (p.Glu586Lys)
|
rs369753548
|
0.00003
|
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp)
|
rs766822145
|
0.00003
|
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
|
rs769612789
|
0.00003
|
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln)
|
rs969498640
|
0.00003
|
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)
|
rs558264503
|
0.00003
|
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser)
|
rs374150662
|
0.00003
|
NM_000271.5(NPC1):c.3818A>G (p.Glu1273Gly)
|
rs374032318
|
0.00003
|
NM_000271.5(NPC1):c.467T>C (p.Met156Thr)
|
rs147615070
|
0.00003
|
NM_000271.5(NPC1):c.89A>T (p.Glu30Val)
|
rs776166330
|
0.00003
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys)
|
rs755718928
|
0.00002
|
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys)
|
rs368129141
|
0.00002
|
NM_000271.5(NPC1):c.2240T>C (p.Phe747Ser)
|
rs1490823282
|
0.00002
|
NM_000271.5(NPC1):c.2593T>G (p.Ser865Ala)
|
rs977397569
|
0.00002
|
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile)
|
rs1019159514
|
0.00002
|
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
|
rs755143457
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000271.5(NPC1):c.3547C>T (p.Arg1183Cys)
|
rs755029556
|
0.00002
|
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val)
|
rs751251790
|
0.00002
|
NM_000271.5(NPC1):c.47G>A (p.Cys16Tyr)
|
rs1407142143
|
0.00002
|
NM_000271.5(NPC1):c.631+3A>G
|
rs759746113
|
0.00002
|
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr)
|
rs886053667
|
0.00002
|
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn)
|
rs747243586
|
0.00002
|
NM_000271.5(NPC1):c.1007G>A (p.Arg336Lys)
|
rs2058955195
|
0.00001
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe)
|
rs1435915496
|
0.00001
|
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met)
|
rs764364312
|
0.00001
|
NM_000271.5(NPC1):c.1257T>G (p.Ile419Met)
|
rs1452719623
|
0.00001
|
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)
|
rs1555636685
|
0.00001
|
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)
|
rs201226297
|
0.00001
|
NM_000271.5(NPC1):c.1499G>A (p.Gly500Glu)
|
rs748246747
|
0.00001
|
NM_000271.5(NPC1):c.1649A>G (p.Tyr550Cys)
|
rs758823922
|
0.00001
|
NM_000271.5(NPC1):c.1723G>C (p.Glu575Gln)
|
rs767236379
|
0.00001
|
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
|
rs751586141
|
0.00001
|
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser)
|
rs201236716
|
0.00001
|
NM_000271.5(NPC1):c.1801A>G (p.Ile601Val)
|
rs1443429857
|
0.00001
|
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val)
|
rs140786703
|
0.00001
|
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu)
|
rs778177842
|
0.00001
|
NM_000271.5(NPC1):c.2083C>G (p.Leu695Val)
|
rs370323921
|
0.00001
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys)
|
rs770762664
|
0.00001
|
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu)
|
rs752386083
|
0.00001
|
NM_000271.5(NPC1):c.2369A>G (p.Gln790Arg)
|
rs761014306
|
0.00001
|
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr)
|
rs758474760
|
0.00001
|
NM_000271.5(NPC1):c.2521A>G (p.Ile841Val)
|
rs757285562
|
0.00001
|
NM_000271.5(NPC1):c.2533G>T (p.Val845Phe)
|
rs562253150
|
0.00001
|
NM_000271.5(NPC1):c.255C>G (p.Asp85Glu)
|
rs2059212616
|
0.00001
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
NM_000271.5(NPC1):c.2635A>G (p.Ile879Val)
|
rs904277386
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.28C>T (p.Leu10Phe)
|
rs1272422974
|
0.00001
|
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu)
|
rs1567948691
|
0.00001
|
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)
|
rs1364834942
|
0.00001
|
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
|
rs146666146
|
0.00001
|
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met)
|
rs776593644
|
0.00001
|
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe)
|
rs1285316145
|
0.00001
|
NM_000271.5(NPC1):c.3196A>G (p.Thr1066Ala)
|
rs747903100
|
0.00001
|
NM_000271.5(NPC1):c.3197C>A (p.Thr1066Asn)
|
rs772622214
|
0.00001
|
NM_000271.5(NPC1):c.3325A>G (p.Ile1109Val)
|
rs368642053
|
0.00001
|
NM_000271.5(NPC1):c.3328T>C (p.Phe1110Leu)
|
rs753725948
|
0.00001
|
NM_000271.5(NPC1):c.3391A>G (p.Ile1131Val)
|
rs1462436957
|
0.00001
|
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000271.5(NPC1):c.3577C>T (p.His1193Tyr)
|
rs375309094
|
0.00001
|
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser)
|
rs764991360
|
0.00001
|
NM_000271.5(NPC1):c.3630T>G (p.Ile1210Met)
|
rs1178040336
|
0.00001
|
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
|
rs1161321094
|
0.00001
|
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr)
|
rs986146604
|
0.00001
|
NM_000271.5(NPC1):c.3763G>A (p.Val1255Ile)
|
rs755597503
|
0.00001
|
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
|
rs200264267
|
0.00001
|
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp)
|
rs544089597
|
0.00001
|
NM_000271.5(NPC1):c.3830A>G (p.Asn1277Ser)
|
rs745328444
|
0.00001
|
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
|
rs887908568
|
0.00001
|
NM_000271.5(NPC1):c.515C>T (p.Ala172Val)
|
rs753654470
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr)
|
rs536360132
|
0.00001
|
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser)
|
rs373815982
|
0.00001
|
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys)
|
rs1232191827
|
0.00001
|
NM_000271.5(NPC1):c.881+6C>T
|
rs1180731498
|
0.00001
|
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln)
|
rs774386583
|
0.00001
|
NM_000271.5(NPC1):c.97A>T (p.Ile33Phe)
|
rs1244447626
|
0.00001
|
NC_000018.9:g.(?_18963480)_(21534612_?)dup
|
|
|
NC_000018.9:g.(?_21112146)_(21166327_?)dup
|
|
|
NC_000018.9:g.(?_21112166)_(21153558_?)dup
|
|
|
NC_000018.9:g.(?_21137061)_(21166307_?)dup
|
|
|
NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp)
|
|
|
NM_000271.5(NPC1):c.1019C>G (p.Thr340Arg)
|
|
|
NM_000271.5(NPC1):c.1021C>T (p.Arg341Cys)
|
|
|
NM_000271.5(NPC1):c.1022G>C (p.Arg341Pro)
|
rs370181667
|
|
NM_000271.5(NPC1):c.1024T>C (p.Trp342Arg)
|
rs2145458077
|
|
NM_000271.5(NPC1):c.1034T>C (p.Phe345Ser)
|
rs1303376855
|
|
NM_000271.5(NPC1):c.1043G>A (p.Arg348Gln)
|
|
|
NM_000271.5(NPC1):c.104A>T (p.Tyr35Phe)
|
|
|
NM_000271.5(NPC1):c.1069T>G (p.Ser357Ala)
|
|
|
NM_000271.5(NPC1):c.106G>A (p.Gly36Arg)
|
rs2059232891
|
|
NM_000271.5(NPC1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_000271.5(NPC1):c.1126A>G (p.Asn376Asp)
|
|
|
NM_000271.5(NPC1):c.1129C>T (p.Pro377Ser)
|
|
|
NM_000271.5(NPC1):c.1172A>C (p.Glu391Ala)
|
|
|
NM_000271.5(NPC1):c.1190A>G (p.Gln397Arg)
|
|
|
NM_000271.5(NPC1):c.1208T>C (p.Phe403Ser)
|
|
|
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)
|
rs1567965313
|
|
NM_000271.5(NPC1):c.1231C>T (p.Arg411Trp)
|
|
|
NM_000271.5(NPC1):c.1247A>G (p.Asp416Gly)
|
|
|
NM_000271.5(NPC1):c.1248C>G (p.Asp416Glu)
|
rs2145455839
|
|
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)
|
rs2058949363
|
|
NM_000271.5(NPC1):c.1268A>G (p.Tyr423Cys)
|
|
|
NM_000271.5(NPC1):c.1280C>G (p.Ala427Gly)
|
|
|
NM_000271.5(NPC1):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000271.5(NPC1):c.1306G>A (p.Asp436Asn)
|
rs1294804263
|
|
NM_000271.5(NPC1):c.1309A>G (p.Ile437Val)
|
rs2145455256
|
|
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
|
rs764171713
|
|
NM_000271.5(NPC1):c.1333G>T (p.Asp445Tyr)
|
rs2145448490
|
|
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
|
|
|
NM_000271.5(NPC1):c.1361C>T (p.Thr454Ile)
|
|
|
NM_000271.5(NPC1):c.1367C>T (p.Ser456Phe)
|
rs374159264
|
|
NM_000271.5(NPC1):c.137G>A (p.Gly46Asp)
|
rs1425737401
|
|
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
|
rs2058927956
|
|
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro)
|
rs2145447843
|
|
NM_000271.5(NPC1):c.1424A>G (p.Tyr475Cys)
|
|
|
NM_000271.5(NPC1):c.1475A>G (p.His492Arg)
|
|
|
NM_000271.5(NPC1):c.1483C>G (p.Leu495Val)
|
rs1598973224
|
|
NM_000271.5(NPC1):c.1490A>G (p.His497Arg)
|
rs2145447292
|
|
NM_000271.5(NPC1):c.1495A>G (p.Lys499Glu)
|
rs2145447268
|
|
NM_000271.5(NPC1):c.149C>T (p.Pro50Leu)
|
|
|
NM_000271.5(NPC1):c.1506CTT[1] (p.Phe504del)
|
rs1555636605
|
|
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
|
rs763680535
|
|
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
|
|
|
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr)
|
rs138184115
|
|
NM_000271.5(NPC1):c.1580G>A (p.Ser527Asn)
|
|
|
NM_000271.5(NPC1):c.1607C>T (p.Thr536Met)
|
|
|
NM_000271.5(NPC1):c.1621G>A (p.Val541Met)
|
rs2058874338
|
|
NM_000271.5(NPC1):c.1653T>C (p.Asp551=)
|
|
|
NM_000271.5(NPC1):c.1654+15C>G
|
rs753138623
|
|
NM_000271.5(NPC1):c.1654G>T (p.Asp552Tyr)
|
rs2145433031
|
|
NM_000271.5(NPC1):c.1684G>A (p.Val562Met)
|
rs1476758898
|
|
NM_000271.5(NPC1):c.169G>A (p.Asp57Asn)
|
|
|
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp)
|
rs2058813808
|
|
NM_000271.5(NPC1):c.1745C>A (p.Ala582Asp)
|
|
|
NM_000271.5(NPC1):c.1757+3G>T
|
|
|
NM_000271.5(NPC1):c.175G>A (p.Val59Met)
|
|
|
NM_000271.5(NPC1):c.1783A>G (p.Lys595Glu)
|
rs2145406160
|
|
NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr)
|
|
|
NM_000271.5(NPC1):c.1804T>C (p.Ser602Pro)
|
|
|
NM_000271.5(NPC1):c.1820G>A (p.Arg607Gln)
|
|
|
NM_000271.5(NPC1):c.1856G>A (p.Ser619Asn)
|
rs992289027
|
|
NM_000271.5(NPC1):c.1870G>C (p.Val624Leu)
|
|
|
NM_000271.5(NPC1):c.1925T>C (p.Met642Thr)
|
rs1342552552
|
|
NM_000271.5(NPC1):c.1941G>C (p.Arg647Ser)
|
|
|
NM_000271.5(NPC1):c.1943T>C (p.Leu648Pro)
|
|
|
NM_000271.5(NPC1):c.1955C>T (p.Ser652Leu)
|
|
|
NM_000271.5(NPC1):c.1972A>G (p.Ile658Val)
|
|
|
NM_000271.5(NPC1):c.1975G>A (p.Ala659Thr)
|
|
|
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser)
|
rs1555634490
|
|
NM_000271.5(NPC1):c.1984T>A (p.Leu662Met)
|
|
|
NM_000271.5(NPC1):c.198C>A (p.Phe66Leu)
|
|
|
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
|
|
|
NM_000271.5(NPC1):c.2027G>C (p.Ser676Thr)
|
rs2145400163
|
|
NM_000271.5(NPC1):c.2044T>A (p.Leu682Met)
|
|
|
NM_000271.5(NPC1):c.2059A>G (p.Ile687Val)
|
rs2058754612
|
|
NM_000271.5(NPC1):c.208A>T (p.Asn70Tyr)
|
rs2145544807
|
|
NM_000271.5(NPC1):c.2102_2103inv (p.Asn701Ser)
|
|
|
NM_000271.5(NPC1):c.2117T>C (p.Val706Ala)
|
|
|
NM_000271.5(NPC1):c.2126A>C (p.Tyr709Ser)
|
|
|
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
|
|
|
NM_000271.5(NPC1):c.2130+5A>G
|
|
|
NM_000271.5(NPC1):c.2150G>A (p.Gly717Glu)
|
|
|
NM_000271.5(NPC1):c.2161G>A (p.Asp721Asn)
|
|
|
NM_000271.5(NPC1):c.217C>T (p.Leu73Phe)
|
|
|
NM_000271.5(NPC1):c.2197C>A (p.Pro733Thr)
|
|
|
NM_000271.5(NPC1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_000271.5(NPC1):c.2222C>T (p.Ser741Phe)
|
|
|
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys)
|
rs1555634202
|
|
NM_000271.5(NPC1):c.2228C>T (p.Thr743Ile)
|
|
|
NM_000271.5(NPC1):c.2241C>G (p.Phe747Leu)
|
|
|
NM_000271.5(NPC1):c.2281T>A (p.Ser761Thr)
|
|
|
NM_000271.5(NPC1):c.2309T>C (p.Ile770Thr)
|
rs2145382914
|
|
NM_000271.5(NPC1):c.2330C>T (p.Thr777Ile)
|
rs750232059
|
|
NM_000271.5(NPC1):c.2338G>A (p.Val780Met)
|
|
|
NM_000271.5(NPC1):c.2351G>C (p.Gly784Ala)
|
|
|
NM_000271.5(NPC1):c.2360T>C (p.Ile787Thr)
|
|
|
NM_000271.5(NPC1):c.2373+4A>G
|
|
|
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
|
|
|
NM_000271.5(NPC1):c.2384T>C (p.Leu795Pro)
|
rs1414231528
|
|
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg)
|
rs1012718245
|
|
NM_000271.5(NPC1):c.2417A>G (p.Asp806Gly)
|
rs1825611761
|
|
NM_000271.5(NPC1):c.2426G>C (p.Ser809Thr)
|
rs769133876
|
|
NM_000271.5(NPC1):c.2431C>G (p.Gln811Glu)
|
rs2058707982
|
|
NM_000271.5(NPC1):c.2432A>G (p.Gln811Arg)
|
rs2145381038
|
|
NM_000271.5(NPC1):c.2440G>A (p.Glu814Lys)
|
|
|
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg)
|
rs767708998
|
|
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser)
|
rs762226042
|
|
NM_000271.5(NPC1):c.2455C>T (p.Arg819Cys)
|
|
|
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro)
|
rs2145380651
|
|
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val)
|
rs756239485
|
|
NM_000271.5(NPC1):c.2509A>T (p.Ile837Phe)
|
rs756239485
|
|
NM_000271.5(NPC1):c.2511T>G (p.Ile837Met)
|
rs369793282
|
|
NM_000271.5(NPC1):c.2514+4T>G
|
|
|
NM_000271.5(NPC1):c.2517A>G (p.Ile839Met)
|
|
|
NM_000271.5(NPC1):c.2527G>T (p.Val843Leu)
|
|
|
NM_000271.5(NPC1):c.2603A>T (p.Asp868Val)
|
|
|
NM_000271.5(NPC1):c.2604+3A>G
|
|
|
NM_000271.5(NPC1):c.2604+8_2604+71del
|
rs2058696209
|
|
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
|
|
|
NM_000271.5(NPC1):c.2630A>C (p.Lys877Thr)
|
rs773177148
|
|
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg)
|
rs2145374045
|
|
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
|
|
|
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
|
rs769193340
|
|
NM_000271.5(NPC1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000271.5(NPC1):c.2699C>G (p.Thr900Ser)
|
|
|
NM_000271.5(NPC1):c.271C>G (p.Leu91Val)
|
rs773809600
|
|
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
|
|
|
NM_000271.5(NPC1):c.2756T>A (p.Leu919Gln)
|
|
|
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val)
|
rs2058687030
|
|
NM_000271.5(NPC1):c.2779G>A (p.Ala927Thr)
|
|
|
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile)
|
rs752107020
|
|
NM_000271.5(NPC1):c.2812G>A (p.Ala938Thr)
|
|
|
NM_000271.5(NPC1):c.2836T>A (p.Tyr946Asn)
|
|
|
NM_000271.5(NPC1):c.2858A>G (p.Gln953Arg)
|
|
|
NM_000271.5(NPC1):c.287+5G>C
|
rs2145544311
|
|
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr)
|
rs2145370245
|
|
NM_000271.5(NPC1):c.2910A>G (p.Ser970=)
|
|
|
NM_000271.5(NPC1):c.2911+6T>A
|
|
|
NM_000271.5(NPC1):c.2911G>A (p.Val971Met)
|
rs928977082
|
|
NM_000271.5(NPC1):c.2912-3C>G
|
rs483352892
|
|
NM_000271.5(NPC1):c.2913G>A (p.Val971=)
|
|
|
NM_000271.5(NPC1):c.2929G>A (p.Val977Ile)
|
|
|
NM_000271.5(NPC1):c.2950C>G (p.Pro984Ala)
|
|
|
NM_000271.5(NPC1):c.2973G>C (p.Gln991His)
|
rs201118975
|
|
NM_000271.5(NPC1):c.2973G>T (p.Gln991His)
|
|
|
NM_000271.5(NPC1):c.2991A>T (p.Arg997Ser)
|
rs2145366523
|
|
NM_000271.5(NPC1):c.3003G>A (p.Met1001Ile)
|
rs2145366464
|
|
NM_000271.5(NPC1):c.3053C>T (p.Ala1018Val)
|
rs2145358077
|
|
NM_000271.5(NPC1):c.3086A>G (p.His1029Arg)
|
rs747201863
|
|
NM_000271.5(NPC1):c.310C>A (p.Leu104Ile)
|
rs2145527400
|
|
NM_000271.5(NPC1):c.3138G>T (p.Gln1046His)
|
rs1385614579
|
|
NM_000271.5(NPC1):c.3152T>C (p.Phe1051Ser)
|
|
|
NM_000271.5(NPC1):c.316A>G (p.Asn106Asp)
|
rs2145527323
|
|
NM_000271.5(NPC1):c.3176G>A (p.Arg1059Gln)
|
|
|
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
|
rs967206412
|
|
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
|
|
|
NM_000271.5(NPC1):c.31C>G (p.Leu11Val)
|
|
|
NM_000271.5(NPC1):c.3203C>G (p.Thr1068Ser)
|
rs754323286
|
|
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)
|
rs754323286
|
|
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)
|
rs1567946736
|
|
NM_000271.5(NPC1):c.3215A>G (p.Asn1072Ser)
|
|
|
NM_000271.5(NPC1):c.3229C>G (p.Arg1077Gly)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3283A>G (p.Ile1095Val)
|
rs2145351761
|
|
NM_000271.5(NPC1):c.3284T>C (p.Ile1095Thr)
|
|
|
NM_000271.5(NPC1):c.328G>C (p.Glu110Gln)
|
rs2145527241
|
|
NM_000271.5(NPC1):c.3291C>G (p.Asp1097Glu)
|
|
|
NM_000271.5(NPC1):c.3293C>A (p.Thr1098Asn)
|
rs746285672
|
|
NM_000271.5(NPC1):c.3295A>G (p.Ile1099Val)
|
|
|
NM_000271.5(NPC1):c.3302A>G (p.Asn1101Ser)
|
|
|
NM_000271.5(NPC1):c.3318G>A (p.Leu1106=)
|
|
|
NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr)
|
|
|
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
|
|
|
NM_000271.5(NPC1):c.3350T>A (p.Leu1117Gln)
|
|
|
NM_000271.5(NPC1):c.3356G>A (p.Cys1119Tyr)
|
rs2058617380
|
|
NM_000271.5(NPC1):c.335C>T (p.Thr112Ile)
|
|
|
NM_000271.5(NPC1):c.3373G>T (p.Val1125Phe)
|
|
|
NM_000271.5(NPC1):c.3376A>C (p.Ile1126Leu)
|
|
|
NM_000271.5(NPC1):c.3380T>C (p.Met1127Thr)
|
|
|
NM_000271.5(NPC1):c.3381G>A (p.Met1127Ile)
|
rs2145350601
|
|
NM_000271.5(NPC1):c.3406G>A (p.Val1136Ile)
|
|
|
NM_000271.5(NPC1):c.3410A>G (p.Asn1137Ser)
|
|
|
NM_000271.5(NPC1):c.3413T>C (p.Met1138Thr)
|
|
|
NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val)
|
rs2058616184
|
|
NM_000271.5(NPC1):c.3436G>A (p.Gly1146Ser)
|
|
|
NM_000271.5(NPC1):c.3454G>A (p.Val1152Ile)
|
|
|
NM_000271.5(NPC1):c.3476T>C (p.Met1159Thr)
|
|
|
NM_000271.5(NPC1):c.3478-3C>T
|
rs2145344067
|
|
NM_000271.5(NPC1):c.3478-6T>A
|
rs1376131980
|
|
NM_000271.5(NPC1):c.347G>A (p.Arg116Gln)
|
|
|
NM_000271.5(NPC1):c.3511A>G (p.Ile1171Val)
|
|
|
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu)
|
rs2058596241
|
|
NM_000271.5(NPC1):c.3536T>C (p.Met1179Thr)
|
|
|
NM_000271.5(NPC1):c.3562G>A (p.Glu1188Lys)
|
|
|
NM_000271.5(NPC1):c.3562G>C (p.Glu1188Gln)
|
|
|
NM_000271.5(NPC1):c.3580A>C (p.Met1194Leu)
|
rs780120393
|
|
NM_000271.5(NPC1):c.3580A>G (p.Met1194Val)
|
|
|
NM_000271.5(NPC1):c.3591+3G>C
|
|
|
NM_000271.5(NPC1):c.3592-3T>C
|
rs2145336490
|
|
NM_000271.5(NPC1):c.3592-7_3592-5del
|
rs764142835
|
|
NM_000271.5(NPC1):c.3605T>C (p.Ile1202Thr)
|
|
|
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr)
|
rs1266315135
|
|
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly)
|
rs772924731
|
|
NM_000271.5(NPC1):c.3680G>T (p.Arg1227Met)
|
rs867139443
|
|
NM_000271.5(NPC1):c.36GCT[1] (p.Leu15del)
|
|
|
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000271.5(NPC1):c.3754+4A>G
|
rs2145335270
|
|
NM_000271.5(NPC1):c.3755-16TC[4]
|
rs760529810
|
|
NM_000271.5(NPC1):c.3755-3T>C
|
rs748965235
|
|
NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp)
|
rs767400384
|
|
NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro)
|
|
|
NM_000271.5(NPC1):c.3797G>T (p.Arg1266Leu)
|
|
|
NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His)
|
rs2058535881
|
|
NM_000271.5(NPC1):c.379G>C (p.Glu127Gln)
|
|
|
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu)
|
rs988215442
|
|
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
|
|
|
NM_000271.5(NPC1):c.3821G>T (p.Arg1274Leu)
|
|
|
NM_000271.5(NPC1):c.3830A>C (p.Asn1277Thr)
|
|
|
NM_000271.5(NPC1):c.3833T>A (p.Phe1278Tyr)
|
|
|
NM_000271.5(NPC1):c.383A>G (p.Asp128Gly)
|
|
|
NM_000271.5(NPC1):c.387_388inv (p.Val130Ile)
|
|
|
NM_000271.5(NPC1):c.397G>C (p.Val133Leu)
|
rs2145526753
|
|
NM_000271.5(NPC1):c.403A>C (p.Asn135His)
|
|
|
NM_000271.5(NPC1):c.416C>T (p.Thr139Ile)
|
|
|
NM_000271.5(NPC1):c.42_44del (p.Leu15del)
|
rs895660071
|
|
NM_000271.5(NPC1):c.430T>G (p.Leu144Val)
|
|
|
NM_000271.5(NPC1):c.463+3A>G
|
rs2059162323
|
|
NM_000271.5(NPC1):c.463+4_463+5dup
|
rs2145526225
|
|
NM_000271.5(NPC1):c.463G>T (p.Ala155Ser)
|
|
|
NM_000271.5(NPC1):c.464-15G>A
|
|
|
NM_000271.5(NPC1):c.464-16G>A
|
|
|
NM_000271.5(NPC1):c.467T>G (p.Met156Arg)
|
|
|
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
|
rs2059038990
|
|
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp)
|
rs1555638953
|
|
NM_000271.5(NPC1):c.49C>T (p.Pro17Ser)
|
|
|
NM_000271.5(NPC1):c.503G>A (p.Ser168Asn)
|
rs2145485415
|
|
NM_000271.5(NPC1):c.547G>T (p.Ala183Ser)
|
rs111256741
|
|
NM_000271.5(NPC1):c.548C>T (p.Ala183Val)
|
|
|
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr)
|
rs1555638862
|
|
NM_000271.5(NPC1):c.57+5G>A
|
rs1425231411
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.577A>G (p.Met193Val)
|
|
|
NM_000271.5(NPC1):c.584A>T (p.Asn195Ile)
|
|
|
NM_000271.5(NPC1):c.610A>G (p.Thr204Ala)
|
|
|
NM_000271.5(NPC1):c.619C>T (p.Pro207Ser)
|
|
|
NM_000271.5(NPC1):c.620C>T (p.Pro207Leu)
|
|
|
NM_000271.5(NPC1):c.622G>T (p.Val208Leu)
|
|
|
NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)
|
|
|
NM_000271.5(NPC1):c.631G>T (p.Asp211Tyr)
|
|
|
NM_000271.5(NPC1):c.632-5T>A
|
|
|
NM_000271.5(NPC1):c.63T>G (p.Phe21Leu)
|
rs2145552491
|
|
NM_000271.5(NPC1):c.646G>A (p.Gly216Arg)
|
|
|
NM_000271.5(NPC1):c.652G>C (p.Glu218Gln)
|
rs972514142
|
|
NM_000271.5(NPC1):c.668C>G (p.Ala223Gly)
|
rs2145480831
|
|
NM_000271.5(NPC1):c.728G>C (p.Cys243Ser)
|
|
|
NM_000271.5(NPC1):c.734T>C (p.Ile245Thr)
|
|
|
NM_000271.5(NPC1):c.736G>A (p.Val246Ile)
|
|
|
NM_000271.5(NPC1):c.743G>A (p.Gly248Asp)
|
|
|
NM_000271.5(NPC1):c.746C>G (p.Pro249Arg)
|
|
|
NM_000271.5(NPC1):c.752C>G (p.Pro251Arg)
|
|
|
NM_000271.5(NPC1):c.756G>C (p.Gln252His)
|
rs768008295
|
|
NM_000271.5(NPC1):c.758C>T (p.Pro253Leu)
|
rs2145480194
|
|
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
|
rs2059020379
|
|
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln)
|
rs752145311
|
|
NM_000271.5(NPC1):c.764C>G (p.Pro255Arg)
|
|
|
NM_000271.5(NPC1):c.782C>T (p.Thr261Met)
|
|
|
NM_000271.5(NPC1):c.806A>G (p.Tyr269Cys)
|
|
|
NM_000271.5(NPC1):c.808G>A (p.Val270Ile)
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)
|
|
|
NM_000271.5(NPC1):c.815T>C (p.Met272Thr)
|
|
|
NM_000271.5(NPC1):c.829A>G (p.Met277Val)
|
|
|
NM_000271.5(NPC1):c.833C>T (p.Ala278Val)
|
|
|
NM_000271.5(NPC1):c.866C>G (p.Ala289Gly)
|
|
|
NM_000271.5(NPC1):c.887G>T (p.Arg296Leu)
|
|
|
NM_000271.5(NPC1):c.890A>G (p.Tyr297Cys)
|
rs776844130
|
|
NM_000271.5(NPC1):c.895G>C (p.Val299Leu)
|
rs1032415844
|
|
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys)
|
rs2058966735
|
|
NM_000271.5(NPC1):c.8C>T (p.Ala3Val)
|
|
|
NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)
|
|
|
NM_000271.5(NPC1):c.922A>C (p.Asn308His)
|
|
|
NM_000271.5(NPC1):c.925A>G (p.Ile309Val)
|
|
|
NM_000271.5(NPC1):c.934T>C (p.Ser312Pro)
|
|
|
NM_000271.5(NPC1):c.947G>A (p.Ser316Asn)
|
rs1018014075
|
|
NM_000271.5(NPC1):c.955+4G>A
|
|
|
NM_000271.5(NPC1):c.958G>A (p.Glu320Lys)
|
|
|
NM_000271.5(NPC1):c.998G>A (p.Gly333Asp)
|
rs2058955343
|
|