NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
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.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000271.5(NPC1):c.1166G>A (p.Arg389His)
|
rs373751051
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
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_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)
|
rs1444308532
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
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.1948-1G>A
|
rs1555634508
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
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.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
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.3230G>A (p.Arg1077Gln)
|
rs534280005
|
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.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)
|
rs780175800
|
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.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
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
|
NM_000271.5(NPC1):c.631+2T>C
|
rs1555638833
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000271.5(NPC1):c.956-1G>A
|
rs756853895
|
0.00001
|
NM_000271.5(NPC1):c.956-2A>G
|
rs1473909084
|
0.00001
|
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
|
rs759950370
|
0.00001
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)
|
rs779528546
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)
|
rs1402734026
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)
|
rs120074119
|
0.00001
|
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)
|
rs750433951
|
0.00001
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
0.00001
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000543.5(SMPD1):c.319-1G>A
|
rs1352986086
|
0.00001
|
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val)
|
rs1047531932
|
0.00001
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
|
|
|
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
|
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)
|
rs1555637232
|
|
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)
|
rs2058953311
|
|
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs)
|
rs2145457097
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)
|
rs1599011473
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)
|
rs373751051
|
|
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
|
|
|
NM_000271.5(NPC1):c.1293del (p.Phe431fs)
|
rs2145455429
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1327-1G>A
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-1G>C
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)
|
rs2058929021
|
|
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
|
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
|
|
|
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
|
|
|
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
|
|
|
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)
|
rs2145447716
|
|
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
|
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
|
|
|
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
|
|
|
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
|
|
|
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)
|
rs2145446753
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)
|
rs2145433298
|
|
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
|
|
|
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)
|
rs2145433190
|
|
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
NM_000271.5(NPC1):c.1757+1G>A
|
|
|
NM_000271.5(NPC1):c.1758-3_1761del
|
|
|
NM_000271.5(NPC1):c.1761del (p.Phe587fs)
|
rs1057517197
|
|
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
|
|
|
NM_000271.5(NPC1):c.180+1G>C
|
rs2059231880
|
|
NM_000271.5(NPC1):c.180+1G>T
|
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1844G>A (p.Arg615His)
|
rs773351341
|
|
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
|
|
|
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)
|
rs2145544950
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.1947+1G>A
|
rs1555634690
|
|
NM_000271.5(NPC1):c.1947+2T>A
|
rs764472245
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000271.5(NPC1):c.1948-2A>T
|
rs1555634513
|
|
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)
|
rs376213990
|
|
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
|
|
|
NM_000271.5(NPC1):c.1A>G (p.Met1Val)
|
rs1057517005
|
|
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
|
|
|
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
|
|
|
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
|
|
|
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
|
|
|
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
|
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2072dup (p.Phe692fs)
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)
|
rs2058754064
|
|
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)
|
rs2058753693
|
|
NM_000271.5(NPC1):c.2131-2_2131del
|
rs1555634236
|
|
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
|
|
|
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
|
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly)
|
rs2145394815
|
|
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
|
|
|
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
|
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
NM_000271.5(NPC1):c.2246-1G>A
|
|
|
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
|
|
|
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
|
|
|
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)
|
rs1555633637
|
|
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
|
|
|
NM_000271.5(NPC1):c.2514+1G>A
|
|
|
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu)
|
rs2145378239
|
|
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
|
|
|
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
|
|
|
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)
|
rs2058698654
|
|
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)
|
rs2058698544
|
|
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
|
|
|
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
|
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)
|
rs1555633361
|
|
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
|
|
|
NM_000271.5(NPC1):c.2712del (p.Gln905fs)
|
rs1555633309
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)
|
rs2058687419
|
|
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)
|
rs786204641
|
|
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
|
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.2795+56C>T
|
rs2058685029
|
|
NM_000271.5(NPC1):c.2796-2A>T
|
|
|
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
|
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
|
|
|
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
|
|
|
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
|
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)
|
rs2058679233
|
|
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs)
|
rs761910746
|
|
NM_000271.5(NPC1):c.2911+1del
|
rs1555633118
|
|
NM_000271.5(NPC1):c.2911+2del
|
rs2058678962
|
|
NM_000271.5(NPC1):c.2912-2A>C
|
rs1555632994
|
|
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
|
|
|
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)
|
rs28942108
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
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.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
|
|
|
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
|
|
|
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
|
|
|
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
|
|
|
NM_000271.5(NPC1):c.3041+2del
|
rs2058665849
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
NM_000271.5(NPC1):c.3042-2_3042-1del
|
|
|
NM_000271.5(NPC1):c.3042-2del
|
rs797044431
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
|
|
|
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)
|
rs1446718670
|
|
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
|
|
|
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
|
|
|
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
|
|
|
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
|
|
|
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
|
|
|
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)
|
rs1598937493
|
|
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
|
|
|
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
|
|
|
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)
|
rs2059164764
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
|
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
|
|
|
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)
|
rs2059164609
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs)
|
rs1057516647
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)
|
rs2145350224
|
|
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
|
|
|
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)
|
rs1555632182
|
|
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
|
|
|
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
|
|
|
NM_000271.5(NPC1):c.3478-1G>C
|
|
|
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala)
|
rs1194990534
|
|
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
|
|
|
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)
|
rs748862167
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
|
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)
|
rs2058596611
|
|
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)
|
rs1567977251
|
|
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs)
|
rs1555631957
|
|
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
|
|
|
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
|
|
|
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)
|
rs113371321
|
|
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
|
|
|
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
|
|
|
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)
|
rs1234099104
|
|
NM_000271.5(NPC1):c.3591+121C>T
|
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
NM_000271.5(NPC1):c.3592-1G>C
|
rs1555631653
|
|
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs)
|
rs1555631642
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
|
|
|
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
|
|
|
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs)
|
rs1555631610
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
|
|
|
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.3754+1G>A
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>C
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>T
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.378del (p.Glu127fs)
|
|
|
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
|
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.397del (p.Val133fs)
|
rs1057517186
|
|
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)
|
rs1555645630
|
|
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs)
|
rs1555641027
|
|
NM_000271.5(NPC1):c.425_428del (p.Lys142fs)
|
rs770580241
|
|
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.463+1G>A
|
|
|
NM_000271.5(NPC1):c.463+2T>G
|
rs2145526252
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
|
|
|
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
|
|
|
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)
|
rs752409181
|
|
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
|
|
|
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
|
|
|
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.58-2A>T
|
rs1555642347
|
|
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)
|
rs754653682
|
|
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
|
|
|
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer)
|
rs1057516260
|
|
NM_000271.5(NPC1):c.631+1G>T
|
|
|
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)
|
rs2059021939
|
|
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
|
|
|
NM_000271.5(NPC1):c.747del (p.Lys250fs)
|
|
|
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
|
|
|
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)
|
rs2059018297
|
|
NM_000271.5(NPC1):c.881+1G>A
|
|
|
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)
|
rs2059233326
|
|
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)
|
rs150154006
|
|
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
|
|
|
NM_000271.5(NPC1):c.943del (p.Ala315fs)
|
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
NM_000271.5(NPC1):c.956-1G>T
|
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
|
|
|
NM_000543.4:c.777_778ins8
|
|
|
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)
|
rs1470998208
|
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
|
|
|
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)
|
rs1242180535
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
|
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
|
|
|
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)
|
rs1848014133
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)
|
rs2134017039
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)
|
rs369088417
|
|
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
|
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
|
|
|
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)
|
rs1162794351
|
|
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
|
|
|
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
|
rs34555120
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
NM_000543.5(SMPD1):c.1264-1G>A
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-2A>G
|
rs774309925
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn)
|
rs760930408
|
|
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
|
|
|
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)
|
rs794727629
|
|
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
|
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
|
|
|
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)
|
rs140688153
|
|
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
|
|
|
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
NM_000543.5(SMPD1):c.1340+2T>C
|
|
|
NM_000543.5(SMPD1):c.1340+2T>G
|
rs1301641750
|
|
NM_000543.5(SMPD1):c.1340+2_1340+9del
|
|
|
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
NM_000543.5(SMPD1):c.1341-10_1429dup
|
rs1554935254
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
|
|
|
NM_000543.5(SMPD1):c.1373del (p.Gly458fs)
|
rs1554935273
|
|
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)
|
rs1848060631
|
|
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)
|
rs1848060729
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1379del (p.Thr460fs)
|
rs1554935285
|
|
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu)
|
rs1258231226
|
|
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)
|
rs1319643225
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)
|
rs182812968
|
|
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr)
|
rs2134021440
|
|
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)
|
rs753508874
|
|
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn)
|
rs2134021618
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
|
|
|
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
NM_000543.5(SMPD1):c.1487-1G>A
|
rs2134022652
|
|
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)
|
rs1848079553
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)
|
rs1554935439
|
|
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
|
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs)
|
rs1057517200
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
|
rs764772735
|
|
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
|
|
|
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
|
|
|
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
|
|
|
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
|
rs752679988
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)
|
rs1554935555
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)
|
rs756031857
|
|
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)
|
rs2134023610
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)
|
rs1057516722
|
|
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_000543.5(SMPD1):c.1716C>G (p.Phe572Leu)
|
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
|
|
|
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
|
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)
|
rs2134024349
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)
|
rs1848099174
|
|
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
|
rs1848099900
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
|
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
|
|
|
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
|
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)
|
rs1847878243
|
|
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
|
rs1057517086
|
|
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
|
|
|
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
|
|
|
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
|
|
|
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
|
|
|
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
|
|
|
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)
|
rs1369175943
|
|
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)
|
rs2134009384
|
|
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)
|
rs1554934210
|
|
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)
|
rs1428487333
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
|
|
|
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)
|
rs2134010621
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)
|
rs1847921260
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
|
|
|
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
|
rs772889728
|
|
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
|
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
|
|
|
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
|
rs1847925080
|
|
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
|
|
|
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)
|
rs1057435197
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
|
|
|
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)
|
rs2134011288
|
|
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
|
rs1590739350
|
|
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
|
|
|
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)
|
rs1423504237
|
|
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)
|
rs1847929817
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)
|
rs1554934406
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
|
rs1847932355
|
|
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
|
rs1847934777
|
|
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)
|
rs2134011919
|
|
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
|
|
|
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
|
rs1847939431
|
|
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
|
rs1847940504
|
|
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)
|
rs2134012580
|
|
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
|
|
|
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
|
rs1554933780
|
|
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)
|
rs2134012749
|
|
NM_000543.5(SMPD1):c.963del (p.His321fs)
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
|
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
|
|
|
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)
|
rs1057517345
|
|
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)
|
rs2086712538
|
|
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
|
|
|
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
|
|
|
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
|
|
|
NM_006432.5(NPC2):c.190+1G>C
|
|
|
NM_006432.5(NPC2):c.191-1G>A
|
|
|
NM_006432.5(NPC2):c.191-1_193del
|
rs1555345873
|
|
NM_006432.5(NPC2):c.1A>G (p.Met1Val)
|
rs1555346369
|
|
NM_006432.5(NPC2):c.218del (p.Val73fs)
|
|
|
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
|
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter)
|
rs2086687936
|
|
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp)
|
rs2086687936
|
|
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)
|
rs1555346368
|
|
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)
|
rs2086687862
|
|
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)
|
rs2086687425
|
|
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
|
|
|
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)
|
rs2086687086
|
|
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
|
|
|
NM_006432.5(NPC2):c.363+1G>A
|
|
|
NM_006432.5(NPC2):c.364-2A>G
|
rs777654308
|
|
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)
|
rs1555345616
|
|
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)
|
rs104894457
|
|
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
|
|
|
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
|
|
|
NM_006432.5(NPC2):c.91del (p.Asp31fs)
|
|
|