ClinVar Miner

List of variants in gene NPC1

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Total variants: 501
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HGVS dbSNP
GRCh37/hg19 18q11.2(chr18:21116657-21146846)x3
NM_000271.3(NPC1):c.1140_1141del (p.Trp381Valfs)
NM_000271.4(NPC1):c.*109T>G rs188980155
NM_000271.4(NPC1):c.*164T>C rs8086463
NM_000271.4(NPC1):c.*191C>A rs534888589
NM_000271.4(NPC1):c.*202C>T rs535059744
NM_000271.4(NPC1):c.*309_*315delTGTAAAG rs145236115
NM_000271.4(NPC1):c.*334T>A rs886053664
NM_000271.4(NPC1):c.*349G>A rs886053663
NM_000271.4(NPC1):c.-100C>G rs553740667
NM_000271.4(NPC1):c.-135C>T rs886053669
NM_000271.4(NPC1):c.-154C>T rs746297876
NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-22A>C rs2303880
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.4(NPC1):c.-29C>G rs762126552
NM_000271.4(NPC1):c.-31G>A rs886053668
NM_000271.4(NPC1):c.-32C>T rs114070977
NM_000271.4(NPC1):c.-36A>C rs750622739
NM_000271.4(NPC1):c.1010G>A (p.Arg337Gln) rs373390781
NM_000271.4(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.4(NPC1):c.1020_1021delAC (p.Arg341Leufs) rs1555637255
NM_000271.4(NPC1):c.1030delT (p.Ser344Leufs) rs483352883
NM_000271.4(NPC1):c.1033_1034delTT (p.Phe345Leufs) rs1057516950
NM_000271.4(NPC1):c.1039G>A (p.Val347Ile)
NM_000271.4(NPC1):c.1065delC (p.Phe356Serfs) rs886043871
NM_000271.4(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.4(NPC1):c.1071G>A (p.Ser357=) rs61731964
NM_000271.4(NPC1):c.1085C>A (p.Thr362Asn)
NM_000271.4(NPC1):c.1088C>T (p.Ala363Val) rs774588125
NM_000271.4(NPC1):c.1115G>A (p.Arg372Gln) rs150053420
NM_000271.4(NPC1):c.1133T>C (p.Val378Ala) rs120074134
NM_000271.4(NPC1):c.1133_1161del29 (p.Val378Glyfs) rs1555637164
NM_000271.4(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.4(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908
NM_000271.4(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.4(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.4(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.4(NPC1):c.1171G>T (p.Glu391Ter) rs1555637139
NM_000271.4(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1214C>T (p.Thr405Met)
NM_000271.4(NPC1):c.1219C>T (p.Gln407Ter) rs775629081
NM_000271.4(NPC1):c.1221G>C (p.Gln407His) rs765539977
NM_000271.4(NPC1):c.1223T>C (p.Leu408Pro)
NM_000271.4(NPC1):c.1224C>T (p.Leu408=) rs759901793
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.1275G>A (p.Ser425=) rs190032589
NM_000271.4(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.4(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.4(NPC1):c.1301C>T (p.Pro434Leu) rs774333145
NM_000271.4(NPC1):c.1327-1G>A rs1057516813
NM_000271.4(NPC1):c.1327-1G>C rs1057516813
NM_000271.4(NPC1):c.1327-2dup rs1555636712
NM_000271.4(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.4(NPC1):c.1348A>G (p.Ile450Val) rs141892620
NM_000271.4(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.4(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685
NM_000271.4(NPC1):c.1421C>T (p.Pro474Leu) rs372445155
NM_000271.4(NPC1):c.1431G>A (p.Thr477=) rs375307057
NM_000271.4(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.4(NPC1):c.144_145insT (p.Lys49Terfs) rs1555642296
NM_000271.4(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.4(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1504G>A (p.Asp502Asn)
NM_000271.4(NPC1):c.1509_1511delCTT (p.Phe504del) rs1555636605
NM_000271.4(NPC1):c.1521C>T (p.Ala507=)
NM_000271.4(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.4(NPC1):c.1531A>G (p.Thr511Ala) rs1555636594
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1533G>A (p.Thr511=)
NM_000271.4(NPC1):c.1535A>G (p.His512Arg)
NM_000271.4(NPC1):c.1542G>A (p.Leu514=) rs371076898
NM_000271.4(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695
NM_000271.4(NPC1):c.1549G>A (p.Val517Ile)
NM_000271.4(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.4(NPC1):c.1554-1009G>A rs1055204017
NM_000271.4(NPC1):c.1554-1010C>T rs142706876
NM_000271.4(NPC1):c.1554-1016C>T rs145998218
NM_000271.4(NPC1):c.1554-1021A>T rs73392141
NM_000271.4(NPC1):c.1561G>A (p.Ala521Thr)
NM_000271.4(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.4(NPC1):c.1579A>G (p.Ser527Gly)
NM_000271.4(NPC1):c.1618C>T (p.Pro540Ser) rs886044064
NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.4(NPC1):c.1628delC (p.Pro543Argfs) rs1555635957
NM_000271.4(NPC1):c.1671C>T (p.Asn557=) rs772427096
NM_000271.4(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.4(NPC1):c.1695C>T (p.Phe565=)
NM_000271.4(NPC1):c.1711delT (p.Tyr571Ilefs) rs1057517455
NM_000271.4(NPC1):c.1761delT (p.Phe587Leufs) rs1057517197
NM_000271.4(NPC1):c.1764T>C (p.Ile588=)
NM_000271.4(NPC1):c.1766A>G (p.Asn589Ser)
NM_000271.4(NPC1):c.180+13T>C rs556162692
NM_000271.4(NPC1):c.180+8C>T
NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) rs483352879
NM_000271.4(NPC1):c.180G>T (p.Gln60His)
NM_000271.4(NPC1):c.181-3A>G
NM_000271.4(NPC1):c.181-4A>C rs374571310
NM_000271.4(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.4(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.4(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.4(NPC1):c.1843C>T (p.Arg615Cys)
NM_000271.4(NPC1):c.1870G>A (p.Val624Ile)
NM_000271.4(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203
NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) rs886042270
NM_000271.4(NPC1):c.1926G= (p.Met642=) rs1788799
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1937G>A (p.Arg646His)
NM_000271.4(NPC1):c.1947+10G>A rs71534236
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+10G>T rs71534236
NM_000271.4(NPC1):c.1947+10_1947+11insCGG rs1555634676
NM_000271.4(NPC1):c.1947+10_1947+11insT
NM_000271.4(NPC1):c.1947+11_1947+12insCGG rs547107514
NM_000271.4(NPC1):c.1947+12G>T rs886053666
NM_000271.4(NPC1):c.1947+12_1947+13insCGGGG rs199713263
NM_000271.4(NPC1):c.1947+13G>T rs568769965
NM_000271.4(NPC1):c.1947+13_1947+14insT rs1555634643
NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG rs3837910
NM_000271.4(NPC1):c.1947+14G>T rs3745024
NM_000271.4(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.4(NPC1):c.1947+16_1947+17insGG rs3837910
NM_000271.4(NPC1):c.1947+16_1947+17insGGG rs3837910
NM_000271.4(NPC1):c.1947+16delG rs3837910
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.1947+1G>A rs1555634690
NM_000271.4(NPC1):c.1947+2T>A rs764472245
NM_000271.4(NPC1):c.1947+2T>G rs764472245
NM_000271.4(NPC1):c.1947+5G>C rs770321568
NM_000271.4(NPC1):c.1947+6C>G rs745432812
NM_000271.4(NPC1):c.1947+7_1947+11dupCGGGG rs1555634670
NM_000271.4(NPC1):c.1947+7_1947+8insCGG
NM_000271.4(NPC1):c.1947+7_1947+8insCGGCG rs1555634618
NM_000271.4(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.4(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.4(NPC1):c.1947+7dupC rs1555634619
NM_000271.4(NPC1):c.1947+8G>C rs66620415
NM_000271.4(NPC1):c.1947+9_1947+10insAGGG rs772150994
NM_000271.4(NPC1):c.1947+9_1947+10insC
NM_000271.4(NPC1):c.1947+9_1947+10insT
NM_000271.4(NPC1):c.1948-1G>A rs1555634508
NM_000271.4(NPC1):c.1948-2A>T rs1555634513
NM_000271.4(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.4(NPC1):c.1989C>G (p.Ile663Met)
NM_000271.4(NPC1):c.1990G>A (p.Val664Met) rs376213990
NM_000271.4(NPC1):c.1A>G (p.Met1Val) rs1057517005
NM_000271.4(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.4(NPC1):c.201_203delCTT (p.Phe68del) rs1555641909
NM_000271.4(NPC1):c.2032A>G (p.Ile678Val)
NM_000271.4(NPC1):c.204T>G (p.Phe68Leu)
NM_000271.4(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.4(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.4(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2085G>A (p.Leu695=)
NM_000271.4(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.4(NPC1):c.209A>G (p.Asn70Ser)
NM_000271.4(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.4(NPC1):c.2103C>G (p.Asn701Lys) rs7227375
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.4(NPC1):c.2130+26T>A rs201543574
NM_000271.4(NPC1):c.2131-14_2131-4delTTTTTTTTTTT rs11299077
NM_000271.4(NPC1):c.2131-2_2131delAGA rs1555634236
NM_000271.4(NPC1):c.2131-4delT rs11299077
NM_000271.4(NPC1):c.2131-4dup rs11299077
NM_000271.4(NPC1):c.2131-5_2131-4delTT rs11299077
NM_000271.4(NPC1):c.2131-6_2131-4delTTT rs11299077
NM_000271.4(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.4(NPC1):c.2141G>A (p.Arg714His) rs375047023
NM_000271.4(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) rs398123284
NM_000271.4(NPC1):c.2199C>T (p.Pro733=)
NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.4(NPC1):c.2213C>A rs777286835
NM_000271.4(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) rs483352882
NM_000271.4(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.4(NPC1):c.2246-5G>A rs77289650
NM_000271.4(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.4(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.4(NPC1):c.2275A>G (p.Thr759Ala) rs776873102
NM_000271.4(NPC1):c.2286_2287delCT (p.Phe763Cysfs) rs1057518613
NM_000271.4(NPC1):c.2292G>A (p.Ala764=)
NM_000271.4(NPC1):c.2302_2303insG (p.Val768Glyfs) rs483352881
NM_000271.4(NPC1):c.2304C>T (p.Val768=) rs183935795
NM_000271.4(NPC1):c.2314T>G (p.Phe772Val)
NM_000271.4(NPC1):c.2324A>C (p.Gln775Pro) rs80358253
NM_000271.4(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.4(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.4(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.4(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.4(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.4(NPC1):c.2373+14A>G rs771523995
NM_000271.4(NPC1):c.2397C>T (p.Cys799=) rs769196521
NM_000271.4(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.4(NPC1):c.2449T>C (p.Leu817=) rs376980859
NM_000271.4(NPC1):c.2451_2454delGTTT (p.Leu817Phefs) rs1555633637
NM_000271.4(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.4(NPC1):c.2465A>G (p.Lys822Arg) rs763535443
NM_000271.4(NPC1):c.2472C>G (p.Ser824=)
NM_000271.4(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.4(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.4(NPC1):c.2510T>C (p.Ile837Thr) rs758474760
NM_000271.4(NPC1):c.2514+3A>C
NM_000271.4(NPC1):c.2514+6C>T rs73392120
NM_000271.4(NPC1):c.2514+7G>A
NM_000271.4(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.4(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.4(NPC1):c.2598G>T (p.Met866Ile) rs1019159514
NM_000271.4(NPC1):c.2604+14_2604+16delCTT rs747422358
NM_000271.4(NPC1):c.2604+1G>A rs1555633454
NM_000271.4(NPC1):c.2604+30delT rs746440359
NM_000271.4(NPC1):c.2604+30dup rs746440359
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000271.4(NPC1):c.2655G>A (p.Ala885=)
NM_000271.4(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.4(NPC1):c.2665G>A (p.Val889Met) rs120074130
NM_000271.4(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.4(NPC1):c.2677C>T (p.Leu893=) rs756756960
NM_000271.4(NPC1):c.2683dup (p.Glu895Glyfs) rs1555633326
NM_000271.4(NPC1):c.2709G>A (p.Lys903=)
NM_000271.4(NPC1):c.2712G>T (p.Gly904=) rs560122245
NM_000271.4(NPC1):c.2712delG (p.Gln905Argfs) rs1555633309
NM_000271.4(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.4(NPC1):c.2728G>A (p.Gly910Ser) rs768999208
NM_000271.4(NPC1):c.2731G>A (p.Gly911Ser) rs34302553
NM_000271.4(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.4(NPC1):c.273A>G (p.Leu91=)
NM_000271.4(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.4(NPC1):c.2764C>T (p.Gln922Ter) rs786204641
NM_000271.4(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.4(NPC1):c.2775delC (p.Asn925Lysfs) rs1057516603
NM_000271.4(NPC1):c.2778G>A (p.Ala926=) rs754772486
NM_000271.4(NPC1):c.2780C>T (p.Ala927Val) rs753768576
NM_000271.4(NPC1):c.2783A>C (p.Gln928Pro) rs28940897
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.2795dupA (p.Tyr932Terfs) rs483352884
NM_000271.4(NPC1):c.2801G>A (p.Arg934Gln) rs786204714
NM_000271.4(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
NM_000271.4(NPC1):c.2808C>T (p.Gly936=)
NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.4(NPC1):c.2820G>A (p.Ser940=) rs754664476
NM_000271.4(NPC1):c.2830G>A (p.Asp944Asn)
NM_000271.4(NPC1):c.2832C>T (p.Asp944=) rs780019300
NM_000271.4(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.4(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.4(NPC1):c.2851A>C (p.Lys951Gln)
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.2862G>A (p.Ser954=) rs373517774
NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.4(NPC1):c.2873G>A (p.Arg958Gln) rs120074132
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.4(NPC1):c.2903A>G (p.Asn968Ser) rs773767253
NM_000271.4(NPC1):c.2907_2908dup (p.Ser970Phefs) rs761910746
NM_000271.4(NPC1):c.2911+10C>T
NM_000271.4(NPC1):c.2911+1delG rs1555633118
NM_000271.4(NPC1):c.2911+28T>C rs6507720
NM_000271.4(NPC1):c.2911+4C>T
NM_000271.4(NPC1):c.2912-2A>C rs1555632994
NM_000271.4(NPC1):c.2912-3C>G rs483352892
NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.4(NPC1):c.2942C>T (p.Pro981Leu)
NM_000271.4(NPC1):c.2965_2966delAG (p.Arg989Alafs) rs1555632977
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.4(NPC1):c.2973_2974delGGinsAT (p.Gly992Trp) rs1555632971
NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.4(NPC1):c.2978dup (p.Asp994Argfs) rs775915490
NM_000271.4(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.4(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.302T>G (p.Phe101Cys) rs548191894
NM_000271.4(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.4(NPC1):c.3041+10G>A rs965937353
NM_000271.4(NPC1):c.3042-1G>A rs771806960
NM_000271.4(NPC1):c.3044_3097del rs797044431
NM_000271.4(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962
NM_000271.4(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153
NM_000271.4(NPC1):c.306T>G (p.Tyr102Ter)
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3127A>G (p.Thr1043Ala) rs876661319
NM_000271.4(NPC1):c.3130G>A (p.Val1044Met)
NM_000271.4(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.4(NPC1):c.3155T>C (p.Ile1052Thr)
NM_000271.4(NPC1):c.3159C>T (p.Asp1053=)
NM_000271.4(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258
NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3192T>C (p.Asn1064=)
NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.4(NPC1):c.3205A>G (p.Met1069Val)
NM_000271.4(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.4(NPC1):c.3234_3237dupATTT rs863224902
NM_000271.4(NPC1):c.3243_3755-94del
NM_000271.4(NPC1):c.3246-20G>A rs6507717
NM_000271.4(NPC1):c.3246-2A>G rs886042268
NM_000271.4(NPC1):c.3246-46C>T rs117851153
NM_000271.4(NPC1):c.3246-8C>T
NM_000271.4(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353
NM_000271.4(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.4(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.4(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.4(NPC1):c.3289G>A (p.Asp1097Asn)
NM_000271.4(NPC1):c.3300C>T (p.Phe1100=)
NM_000271.4(NPC1):c.3309dupT (p.Val1104Cysfs) rs1057517194
NM_000271.4(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.4(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.4(NPC1):c.3325delA (p.Ile1109Tyrfs) rs1057517149
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3364T>C (p.Trp1122Arg) rs148571882
NM_000271.4(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.4(NPC1):c.3393C>T (p.Ile1131=)
NM_000271.4(NPC1):c.33_35delCCT (p.Leu15del) rs1555645598
NM_000271.4(NPC1):c.3417_3423del7 (p.Phe1139Leufs) rs1057516647
NM_000271.4(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.4(NPC1):c.3432C>G (p.Leu1144=) rs191526202
NM_000271.4(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.4(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.4(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.4(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.4(NPC1):c.3461T>A (p.Leu1154Ter) rs1555632182
NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.4(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.4(NPC1):c.3477+14C>T rs56043719
NM_000271.4(NPC1):c.3477+15A>G rs369049242
NM_000271.4(NPC1):c.3477+19T>C rs375942184
NM_000271.4(NPC1):c.3477+4A>G rs114073738
NM_000271.4(NPC1):c.3478-7A>C
NM_000271.4(NPC1):c.3482G>C (p.Cys1161Ser)
NM_000271.4(NPC1):c.3489C>T (p.Ile1163=)
NM_000271.4(NPC1):c.3492C>T (p.Ser1164=) rs371160947
NM_000271.4(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.4(NPC1):c.3496G>A (p.Glu1166Lys)
NM_000271.4(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.4(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.4(NPC1):c.350A>G (p.Gln117Arg)
NM_000271.4(NPC1):c.3517dup (p.Arg1173Lysfs) rs1555631982
NM_000271.4(NPC1):c.3528G>A (p.Thr1176=) rs150602021
NM_000271.4(NPC1):c.352_353delAG (p.Gln119Valfs) rs759075595
NM_000271.4(NPC1):c.3535A>G (p.Met1179Val) rs61731969
NM_000271.4(NPC1):c.3535_3538delATGAinsTTT (p.Met1179Phefs) rs1555631957
NM_000271.4(NPC1):c.3548G>A (p.Arg1183His)
NM_000271.4(NPC1):c.3550G>A (p.Val1184Met)
NM_000271.4(NPC1):c.3555_3563dup (p.Glu1188_Glu1189insArgAlaGlu) rs1555631911
NM_000271.4(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180
NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.4(NPC1):c.3558C>T (p.Arg1186=) rs141659629
NM_000271.4(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273
NM_000271.4(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000271.4(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.4(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3562delG (p.Glu1188Lysfs) rs758231839
NM_000271.4(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773
NM_000271.4(NPC1):c.3570_3573dupACTT (p.Ala1192Thrfs) rs750323164
NM_000271.4(NPC1):c.3591+1G>A rs786200877
NM_000271.4(NPC1):c.3591+2T>C rs1555631888
NM_000271.4(NPC1):c.3591+4delA rs794727371
NM_000271.4(NPC1):c.3591C>T (p.Ser1197=)
NM_000271.4(NPC1):c.3592-1G>C rs1555631653
NM_000271.4(NPC1):c.3592-42G>C rs149111199
NM_000271.4(NPC1):c.3592-7_3592-3del5 rs760935117
NM_000271.4(NPC1):c.3592-7_3592-5delCTT rs764142835
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3611_3614del (p.Leu1204Glnfs) rs786200879
NM_000271.4(NPC1):c.3612_3613delTAinsG (p.Thr1205Glnfs) rs1555631642
NM_000271.4(NPC1):c.3613dupA (p.Thr1205Asnfs) rs886041356
NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.4(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.4(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000271.4(NPC1):c.3639G>C (p.Leu1213Phe) rs120074131
NM_000271.4(NPC1):c.3662T>C (p.Phe1221Ser)
NM_000271.4(NPC1):c.3662del (p.Phe1221Serfs) rs786200878
NM_000271.4(NPC1):c.3666_3672del7 (p.Gln1222Hisfs) rs1555631610
NM_000271.4(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.4(NPC1):c.3717C>T (p.His1239=) rs34624018
NM_000271.4(NPC1):c.372A>T (p.Thr124=) rs748125983
NM_000271.4(NPC1):c.3732C>T (p.Leu1244=)
NM_000271.4(NPC1):c.3734_3735delCT (p.Pro1245Argfs) rs1064794009
NM_000271.4(NPC1):c.3742_3745delCTCA (p.Leu1248Valfs) rs774943545
NM_000271.4(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261
NM_000271.4(NPC1):c.3754+1G>A rs1555631571
NM_000271.4(NPC1):c.3754+1G>C rs1555631571
NM_000271.4(NPC1):c.3754+1G>T rs1555631571
NM_000271.4(NPC1):c.3754+34A>G rs2510344
NM_000271.4(NPC1):c.3754+3A>C rs1208252513
NM_000271.4(NPC1):c.3755-6_3755-5delTC rs760529810
NM_000271.4(NPC1):c.3769_3772delAAAG (p.Lys1257Profs) rs1555631176
NM_000271.4(NPC1):c.3772delG (p.Ala1258Profs) rs1555631174
NM_000271.4(NPC1):c.3773C>T (p.Ala1258Val) rs767400384
NM_000271.4(NPC1):c.3778delA (p.Ser1260Valfs) rs1555631169
NM_000271.4(NPC1):c.3781_3783delTGT (p.Cys1261del) rs1482228628
NM_000271.4(NPC1):c.3794A>T (p.Glu1265Val) rs751251790
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.3811G>C (p.Glu1271Gln)
NM_000271.4(NPC1):c.3812A>C (p.Glu1271Ala)
NM_000271.4(NPC1):c.3816C>T (p.Arg1272=)
NM_000271.4(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597
NM_000271.4(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.395delC (p.Pro132Leufs) rs1057516462
NM_000271.4(NPC1):c.397delG (p.Val133Leufs) rs1057517186
NM_000271.4(NPC1):c.398T>G (p.Val133Gly) rs375039992
NM_000271.4(NPC1):c.3G>A (p.Met1Ile) rs1555645630
NM_000271.4(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.4(NPC1):c.411G>A (p.Thr137=)
NM_000271.4(NPC1):c.414_435dup (p.Tyr146Asnfs) rs1555641027
NM_000271.4(NPC1):c.416_417insC (p.Asn140Lysfs) rs483352880
NM_000271.4(NPC1):c.423_424dup (p.Lys142Argfs) rs773941375
NM_000271.4(NPC1):c.423_424insGA (p.Lys142Glufs) rs1555641037
NM_000271.4(NPC1):c.425_428delAAGA (p.Lys142Serfs) rs770580241
NM_000271.4(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.4(NPC1):c.444C>G (p.Val148=)
NM_000271.4(NPC1):c.445G>A (p.Gly149Arg) rs143205855
NM_000271.4(NPC1):c.451_452delAG (p.Ser151Phefs) rs749012588
NM_000271.4(NPC1):c.463+19A>G rs117512587
NM_000271.4(NPC1):c.467T>C (p.Met156Thr) rs147615070
NM_000271.4(NPC1):c.471C>T (p.Tyr157=)
NM_000271.4(NPC1):c.481C>T (p.Arg161Trp) rs141243713
NM_000271.4(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.4(NPC1):c.500C>G (p.Ser167Ter) rs752409181
NM_000271.4(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.4(NPC1):c.526delC (p.Leu176Cysfs) rs1131691558
NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.4(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.4(NPC1):c.541G>A (p.Ala181Thr) rs199963560
NM_000271.4(NPC1):c.544G>A (p.Asp182Asn) rs201021988
NM_000271.4(NPC1):c.546C>T (p.Asp182=) rs572499557
NM_000271.4(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.4(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.4(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.4(NPC1):c.57+4A>G rs1057519229
NM_000271.4(NPC1):c.57+7G>A rs886042901
NM_000271.4(NPC1):c.58-2A>T rs1555642347
NM_000271.4(NPC1):c.58-4G>A
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.4(NPC1):c.629delC (p.Ser210Terfs) rs1057516260
NM_000271.4(NPC1):c.631+17C>T rs115397659
NM_000271.4(NPC1):c.631+2T>C rs1555638833
NM_000271.4(NPC1):c.631+7A>G rs886044570
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.4(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.4(NPC1):c.67delC (p.Gln23Serfs) rs886043131
NM_000271.4(NPC1):c.684C>T (p.Asp228=)
NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) rs758687942
NM_000271.4(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.4(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.4(NPC1):c.72C>T (p.Ser24=) rs764560779
NM_000271.4(NPC1):c.737_738delTCinsCA (p.Val246Ala)
NM_000271.4(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.4(NPC1):c.7G>A (p.Ala3Thr) rs752896980
NM_000271.4(NPC1):c.800C>G (p.Ala267Gly) rs780178153
NM_000271.4(NPC1):c.813_815delCAT (p.Ile271del) rs1243863645
NM_000271.4(NPC1):c.834G>A (p.Ala278=) rs146105340
NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) rs1057518711
NM_000271.4(NPC1):c.852delT (p.Phe284Leufs) rs762124334
NM_000271.4(NPC1):c.852dup (p.Gly285Trpfs) rs762124334
NM_000271.4(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_000271.4(NPC1):c.881+1G>T rs1555638409
NM_000271.4(NPC1):c.881+37C>G rs142700149
NM_000271.4(NPC1):c.89A>T (p.Glu30Val)
NM_000271.4(NPC1):c.901_912dup (p.Pro304_Ile305insGluTyrThrPro) rs1555637509
NM_000271.4(NPC1):c.90G>A (p.Glu30=)
NM_000271.4(NPC1):c.916G>A (p.Asp306Asn) rs747243586
NM_000271.4(NPC1):c.946A>G (p.Ser316Gly) rs748432821
NM_000271.4(NPC1):c.956-11C>T rs780491021
NM_000271.4(NPC1):c.956-1G>A rs756853895
NM_000271.4(NPC1):c.956-7C>G rs537484682
NM_000271.4(NPC1):c.956-7C>T rs537484682
NM_000271.4(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000271.4(NPC1):c.973_974dupGA (p.Asp325Glufs) rs886044580
NM_000271.4(NPC1):c.985G>A (p.Ala329Thr)
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_000271.5(NPC1):c.2131-1del
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669
NM_000271.5(NPC1):c.3783dup (p.Ala1262Cysfs)
NPC1, IVS16, G-A, -82

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