ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease, type C1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 591
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_006432.5(NPC2):c.*295C>G rs113587712 0.00892
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000271.5(NPC1):c.-100C>G rs553740667 0.00144
NM_000271.5(NPC1):c.*494G>T rs201277520 0.00128
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.-110C>T rs373558305 0.00100
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_000271.5(NPC1):c.*94G>A rs573009552 0.00086
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_000271.5(NPC1):c.*202C>T rs535059744 0.00072
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
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.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000271.5(NPC1):c.-36A>C rs750622739 0.00031
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_000271.5(NPC1):c.-139G>A rs781541939 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.1947+6C>G rs745432812 0.00026
NM_006432.5(NPC2):c.*237G>A rs185533644 0.00023
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.*191C>A rs534888589 0.00020
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908 0.00015
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 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.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000271.5(NPC1):c.-154C>T rs746297876 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
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.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
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_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081 0.00006
NM_000271.5(NPC1):c.2246-6C>T rs757950161 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.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 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.1430C>T (p.Thr477Met) rs761459069 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala) rs773448915 0.00005
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821 0.00005
NM_000271.5(NPC1):c.956-10G>A rs755660832 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.1947+12G>T rs886053666 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.2514+15G>A rs765825660 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.695A>G (p.Asp232Gly) rs201956601 0.00004
NM_000271.5(NPC1):c.-31G>A rs886053668 0.00003
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.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.1756G>A (p.Glu586Lys) rs369753548 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 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.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300 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.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys) rs755718928 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 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.2337C>T (p.Phe779=) rs367654655 0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578 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.2873G>A (p.Arg958Gln) rs120074132 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_006432.5(NPC2):c.*86G>A rs146900446 0.00002
NM_000271.5(NPC1):c.*718C>T rs1227797863 0.00001
NM_000271.5(NPC1):c.-29C>G rs762126552 0.00001
NM_000271.5(NPC1):c.1007G>A (p.Arg336Lys) rs2058955195 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 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.1165C>T (p.Arg389Cys) rs1053321823 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.1371T>C (p.Tyr457=) rs779065920 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.1436G>A (p.Cys479Tyr) rs1555636659 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.1947+4A>G rs577147812 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 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.2131-1del rs1567954054 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.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795 0.00001
NM_000271.5(NPC1):c.2369A>G (p.Gln790Arg) rs761014306 0.00001
NM_000271.5(NPC1):c.2373+14A>G rs771523995 0.00001
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr) rs758474760 0.00001
NM_000271.5(NPC1):c.2514+7G>A rs764548800 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.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.28C>T (p.Leu10Phe) rs1272422974 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 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.3312G>A (p.Val1104=) rs746476066 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.3745A>G (p.Ser1249Gly) rs1415921261 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.410C>T (p.Thr137Met) rs372947142 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.586A>G (p.Lys196Glu) rs754653682 0.00001
NM_000271.5(NPC1):c.615C>T (p.Ile205=) rs767452406 0.00001
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514 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
NM_006432.5(NPC2):c.*115C>T rs780515697 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.*109T>G rs188980155
NM_000271.5(NPC1):c.*129T>G rs2058528928
NM_000271.5(NPC1):c.*161C>T rs2058527793
NM_000271.5(NPC1):c.*327C>T rs2058522612
NM_000271.5(NPC1):c.*328A>C rs1326365719
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*500A>G rs886053662
NM_000271.5(NPC1):c.-116C>G rs574376933
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp)
NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)
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.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.1094C>T (p.Ser365Leu)
NM_000271.5(NPC1):c.1103T>C (p.Leu368Pro)
NM_000271.5(NPC1):c.1126A>G (p.Asn376Asp)
NM_000271.5(NPC1):c.1129C>T (p.Pro377Ser)
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
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.1210C>T (p.Arg404Trp) rs1298238512
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.1289C>G (p.Pro430Arg) rs2145455455
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
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.1312C>A (p.Gln438Lys)
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1327-2dup rs1555636712
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.1388C>T (p.Thr463Ile) rs2058928378
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
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.1453T>G (p.Leu485Val)
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.1522G>A (p.Asp508Asn)
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
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.1610T>C (p.Phe537Ser) rs747310316
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.1686G>A (p.Val562=) rs1555635272
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.175G>T (p.Val59Leu) rs1365313736
NM_000271.5(NPC1):c.1783A>G (p.Lys595Glu) rs2145406160
NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr)
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.1804T>C (p.Ser602Pro)
NM_000271.5(NPC1):c.1820G>A (p.Arg607Gln)
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1856G>A (p.Ser619Asn) rs992289027
NM_000271.5(NPC1):c.1870G>C (p.Val624Leu)
NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)
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.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+12G>C rs886053666
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+6_1947+7del rs2058767020
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.198CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2027G>C (p.Ser676Thr) rs2145400163
NM_000271.5(NPC1):c.2044T>A (p.Leu682Met)
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val) rs1310067072
NM_000271.5(NPC1):c.2059A>G (p.Ile687Val) rs2058754612
NM_000271.5(NPC1):c.2079G>A (p.Leu693=) rs2058754303
NM_000271.5(NPC1):c.208A>T (p.Asn70Tyr) rs2145544807
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
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.2300C>G (p.Ala767Gly) rs748589476
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.2335T>C (p.Phe779Leu) rs1555633722
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.2365C>T (p.Arg789Cys) rs1555633697
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.2413G>C (p.Glu805Gln) rs775077140
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.2428G>T (p.Val810Phe) rs145362908
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.2451_2454del (p.Leu817fs) rs1555633637
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.2597T>C (p.Met866Thr) rs1181604094
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.2734A>G (p.Met912Val) rs746398811
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.27CCT[2] (p.Leu15del) rs1555645598
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
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.286A>G (p.Arg96Gly)
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>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2973G>C (p.Gln991His) rs201118975
NM_000271.5(NPC1):c.2973G>T (p.Gln991His)
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.5(NPC1):c.2991A>T (p.Arg997Ser) rs2145366523
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3003G>A (p.Met1001Ile) rs2145366464
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3053C>T (p.Ala1018Val) rs2145358077
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr) rs2058638089
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.3134T>C (p.Leu1045Pro) rs893564568
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.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
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.3293C>T (p.Thr1098Ile) 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.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr)
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)
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.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3454G>A (p.Val1152Ile)
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
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.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3508C>T (p.His1170Tyr)
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.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
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_3592-3del rs760935117
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>C (p.Arg1227Thr)
NM_000271.5(NPC1):c.3680G>T (p.Arg1227Met) rs867139443
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.36GCT[1] (p.Leu15del)
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser) rs2145335710
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
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.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp) rs767400384
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
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.442G>C (p.Val148Leu) rs200323346
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg) rs2059417979
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>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.547G>T (p.Ala183Ser) rs111256741
NM_000271.5(NPC1):c.548C>T (p.Ala183Val)
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.57+4A>G rs1057519229
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.631+5G>A
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.688_693del (p.Ser230_Val231del) rs758687942
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.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
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.761C>G (p.Pro254Arg) 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.901_912dup (p.Glu301_Pro304dup) rs1555637509
NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)
NM_000271.5(NPC1):c.91T>C (p.Cys31Arg)
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.984C>T (p.Ser328=) rs760861487
NM_000271.5(NPC1):c.998G>A (p.Gly333Asp) rs2058955343

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