NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
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_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
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_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00031
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)
|
rs148607507
|
0.00022
|
NM_000271.5(NPC1):c.1480G>A (p.Val494Met)
|
rs199812609
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
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.544G>A (p.Asp182Asn)
|
rs201021988
|
0.00014
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
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_000543.5(SMPD1):c.733T>C (p.Tyr245His)
|
rs370178721
|
0.00009
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
NM_006432.5(NPC2):c.-1G>C
|
rs756433737
|
0.00007
|
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)
|
rs369392502
|
0.00007
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
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_000543.5(SMPD1):c.253G>A (p.Gly85Arg)
|
rs368200803
|
0.00006
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)
|
rs148892841
|
0.00004
|
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)
|
rs369566518
|
0.00004
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
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.3527C>T (p.Thr1176Met)
|
rs558264503
|
0.00003
|
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)
|
rs761144309
|
0.00003
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
|
rs774036281
|
0.00003
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
|
rs755143457
|
0.00002
|
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
0.00002
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe)
|
rs1435915496
|
0.00001
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.615C>T (p.Ile205=)
|
rs767452406
|
0.00001
|
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr)
|
rs536360132
|
0.00001
|
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln)
|
rs774386583
|
0.00001
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr)
|
rs144624998
|
0.00001
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala)
|
rs770561559
|
0.00001
|
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)
|
rs375224040
|
0.00001
|
NM_000543.5(SMPD1):c.26G>T (p.Arg9Leu)
|
rs373013062
|
0.00001
|
NM_000543.5(SMPD1):c.283A>C (p.Lys95Gln)
|
rs886044321
|
0.00001
|
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)
|
rs373475928
|
0.00001
|
NM_000543.5(SMPD1):c.318+5G>A
|
rs375723261
|
0.00001
|
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)
|
rs748936934
|
0.00001
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
|
rs2058927956
|
|
NM_000271.5(NPC1):c.175G>T (p.Val59Leu)
|
rs1365313736
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)
|
rs1555641909
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly)
|
rs748589476
|
|
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
|
rs769193340
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr)
|
rs2058638089
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg)
|
rs2059417979
|
|
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
|
rs2059038990
|
|
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr)
|
rs1555638862
|
|
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln)
|
rs752145311
|
|
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala)
|
rs771028947
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
|
rs1554933800
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His)
|
rs1400503556
|
|
NM_000543.5(SMPD1):c.1471A>C (p.Ile491Leu)
|
rs1429766647
|
|
NM_000543.5(SMPD1):c.1471A>G (p.Ile491Val)
|
rs1429766647
|
|
NM_000543.5(SMPD1):c.318+7A>G
|
rs747913628
|
|
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala)
|
rs1366957686
|
|
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)
|
rs1172255199
|
|
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys)
|
rs1319381364
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)
|
rs2086642019
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|