NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)
|
rs746372120
|
0.00005
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
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.1421C>T (p.Pro474Leu)
|
rs372445155
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)
|
rs730880963
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn)
|
rs748837410
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)
|
rs28942105
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)
|
rs120074134
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser)
|
rs143797098
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)
|
rs751951695
|
0.00001
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
|
rs564631426
|
0.00001
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
0.00001
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)
|
rs80358258
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)
|
rs144725473
|
0.00001
|
NM_000271.5(NPC1):c.3477+2T>C
|
rs772898831
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)
|
rs369098773
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
NM_000271.5(NPC1):c.3591+4del
|
rs794727371
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
|
|
|
NC_000018.9:g.(?_21166241)_(21166317_?)del
|
|
|
NM_000271.4(NPC1):c.2134_2135del
|
|
|
NM_000271.4(NPC1):c.3249_3250del
|
|
|
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs)
|
rs1555637255
|
|
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
|
|
|
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu)
|
rs1444308532
|
|
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
|
|
|
NM_000271.5(NPC1):c.1030del (p.Ser344fs)
|
rs483352883
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)
|
rs1474434210
|
|
NM_000271.5(NPC1):c.1065del (p.Phe356fs)
|
rs886043871
|
|
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
|
|
|
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)
|
rs1278305591
|
|
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
|
|
|
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
|
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs)
|
rs1567965488
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.1152dup (p.Ser385fs)
|
rs2145456711
|
|
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)
|
rs1555637139
|
|
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
|
|
|
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
|
|
|
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
|
|
|
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
|
|
|
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
|
|
|
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs)
|
rs2058949697
|
|
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
|
|
|
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)
|
rs2058949363
|
|
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
|
|
|
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
|
|
|
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer)
|
rs2058928573
|
|
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
|
|
|
NM_000271.5(NPC1):c.1417dup (p.Ser473fs)
|
rs2145447827
|
|
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
|
|
|
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs)
|
rs2145447627
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1451del (p.Val484fs)
|
|
|
NM_000271.5(NPC1):c.1459dup (p.Tyr487fs)
|
|
|
NM_000271.5(NPC1):c.1497dup (p.Gly500fs)
|
rs2058926540
|
|
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
|
|
|
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)
|
rs483352885
|
|
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)
|
rs1190383931
|
|
NM_000271.5(NPC1):c.1531_1532del (p.Thr511fs)
|
rs2145446953
|
|
NM_000271.5(NPC1):c.1535A>G (p.His512Arg)
|
rs1567963883
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
|
|
|
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
|
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
|
|
|
NM_000271.5(NPC1):c.1654+1G>A
|
rs2145433024
|
|
NM_000271.5(NPC1):c.1654+1dup
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
|
|
|
NM_000271.5(NPC1):c.1757+1G>T
|
|
|
NM_000271.5(NPC1):c.1757+2T>G
|
|
|
NM_000271.5(NPC1):c.1757+2_1757+3del
|
|
|
NM_000271.5(NPC1):c.1757_1757+1del
|
|
|
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
|
|
|
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
|
|
|
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
|
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)
|
rs483352887
|
|
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)
|
rs1555634739
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1844del (p.Arg615fs)
|
rs1257362365
|
|
NM_000271.5(NPC1):c.1849dup (p.Ser617fs)
|
rs2058769608
|
|
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe)
|
rs202140203
|
|
NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs)
|
rs2058768417
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)
|
rs2058756032
|
|
NM_000271.5(NPC1):c.2039dup (p.Leu680fs)
|
rs2145400078
|
|
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)
|
rs483352888
|
|
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)
|
rs2058754429
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
|
|
|
NM_000271.5(NPC1):c.2096del (p.Val699fs)
|
rs1598954455
|
|
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)
|
rs483352889
|
|
NM_000271.5(NPC1):c.2129del (p.Gln710fs)
|
rs2058753352
|
|
NM_000271.5(NPC1):c.2130+1G>A
|
rs2058753286
|
|
NM_000271.5(NPC1):c.2130+1G>C
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
|
|
|
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
|
|
|
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
|
|
|
NM_000271.5(NPC1):c.2175dup (p.Arg726fs)
|
|
|
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)
|
rs483352890
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
NM_000271.5(NPC1):c.2245+1G>A
|
|
|
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
|
|
|
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs)
|
rs1057518613
|
|
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
|
|
|
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
|
|
|
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val)
|
rs773765255
|
|
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)
|
rs2058711607
|
|
NM_000271.5(NPC1):c.2302dup (p.Val768fs)
|
rs483352881
|
|
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
|
|
|
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
|
|
|
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.2374-1G>A
|
rs2145381556
|
|
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
|
|
|
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
|
|
|
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
|
|
|
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
|
|
|
NM_000271.5(NPC1):c.248_249del (p.Leu83fs)
|
rs2145544570
|
|
NM_000271.5(NPC1):c.24dup (p.Gly9fs)
|
rs2145603843
|
|
NM_000271.5(NPC1):c.2515-2A>G
|
|
|
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
|
|
|
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
|
|
|
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
|
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2604+2T>G
|
|
|
NM_000271.5(NPC1):c.2604+5G>A
|
rs2058697907
|
|
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)
|
rs2058690179
|
|
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
|
|
|
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
|
|
|
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
|
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)
|
|
|
NM_000271.5(NPC1):c.2664dup (p.Val889fs)
|
rs2058688995
|
|
NM_000271.5(NPC1):c.2665G>A (p.Val889Met)
|
rs120074130
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter)
|
rs2145373524
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000271.5(NPC1):c.2719del (p.Met907fs)
|
|
|
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
|
|
|
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
|
|
|
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
|
|
|
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)
|
|
|
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
|
|
|
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro)
|
rs28940897
|
|
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter)
|
rs483352884
|
|
NM_000271.5(NPC1):c.2823del (p.Trp942fs)
|
rs2145370732
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)
|
rs2145370569
|
|
NM_000271.5(NPC1):c.2857_2858del (p.Gln953fs)
|
rs2145370503
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
|
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
|
|
|
NM_000271.5(NPC1):c.2912-3C>G
|
rs483352892
|
|
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter)
|
rs370766410
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs)
|
rs2145366821
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.2977_2978dup (p.Asp994fs)
|
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
|
|
|
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)
|
rs764789542
|
|
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs)
|
rs1352485089
|
|
NM_000271.5(NPC1):c.3027del (p.Lys1010fs)
|
rs1598942578
|
|
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
|
|
|
NM_000271.5(NPC1):c.3041+1G>T
|
|
|
NM_000271.5(NPC1):c.3042-2del
|
rs797044431
|
|
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val)
|
rs761773567
|
|
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly)
|
rs2145357984
|
|
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)
|
rs751249367
|
|
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
|
|
|
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs)
|
rs1274484561
|
|
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
|
|
|
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
|
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs)
|
rs2145357685
|
|
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter)
|
rs2145357627
|
|
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)
|
rs876661319
|
|
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
|
|
|
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs)
|
rs2145357371
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs)
|
rs863224902
|
|
NM_000271.5(NPC1):c.3245+1G>T
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3254_3255del (p.Tyr1085fs)
|
rs2145351971
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)
|
rs28942106
|
|
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.3281del (p.Ile1094fs)
|
|
|
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs)
|
rs2145351616
|
|
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs)
|
rs2145351545
|
|
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs)
|
rs2145351287
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
|
|
|
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)
|
rs2145350930
|
|
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs)
|
rs2058616798
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
|
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
|
|
|
NM_000271.5(NPC1):c.3457_3458dup (p.Leu1154fs)
|
rs1263493813
|
|
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del)
|
rs2058614971
|
|
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)
|
rs28942105
|
|
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)
|
rs144973225
|
|
NM_000271.5(NPC1):c.3477+1G>A
|
rs1405889589
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter)
|
rs2145527075
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.350dup (p.Ser118fs)
|
rs2145527060
|
|
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs)
|
rs1555631982
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
|
|
|
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
|
|
|
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter)
|
rs776701050
|
|
NM_000271.5(NPC1):c.3562del (p.Glu1188fs)
|
rs758231839
|
|
NM_000271.5(NPC1):c.3591+2T>A
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2T>G
|
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
NM_000271.5(NPC1):c.3597del (p.Phe1199fs)
|
rs2058574038
|
|
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)
|
rs786200879
|
|
NM_000271.5(NPC1):c.3612dup (p.Thr1205fs)
|
rs2145336359
|
|
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs)
|
rs886041356
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe)
|
rs120074131
|
|
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
|
|
|
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
|
|
|
NM_000271.5(NPC1):c.3678del (p.Phe1226fs)
|
rs2058572084
|
|
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
|
|
|
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3740dup (p.Leu1247fs)
|
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.407del (p.Gln136fs)
|
|
|
NM_000271.5(NPC1):c.415del (p.Thr139fs)
|
|
|
NM_000271.5(NPC1):c.416dup (p.Asn140fs)
|
rs483352880
|
|
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs)
|
rs1555641037
|
|
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
|
|
|
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)
|
rs1057516749
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.473del (p.Asn158fs)
|
|
|
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile)
|
rs2059038310
|
|
NM_000271.5(NPC1):c.526del (p.Leu176fs)
|
rs1131691558
|
|
NM_000271.5(NPC1):c.644del (p.His215fs)
|
rs2145481013
|
|
NM_000271.5(NPC1):c.652del (p.Glu218fs)
|
|
|
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
|
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
|
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
|
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
|
|
|
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
|
|
|
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
|
|
|
NM_000271.5(NPC1):c.754del (p.Gln252fs)
|
|
|
NM_000271.5(NPC1):c.762del (p.Pro255fs)
|
|
|
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
|
|
|
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)
|
rs2059233403
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
|
|
|
NM_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter)
|
rs2145552346
|
|
NM_000271.5(NPC1):c.864del (p.Phe288fs)
|
|
|
NM_000271.5(NPC1):c.881+1G>T
|
rs1555638409
|
|
NM_000271.5(NPC1):c.895del (p.Val299fs)
|
|
|
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
|
|
|
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs)
|
rs2145552247
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NPC1, IVS16, G-A, -82
|
|
|