NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
NM_000543.5(SMPD1):c.*74A>C
|
rs1803160
|
0.02334
|
NM_000271.5(NPC1):c.1554-1021A>T
|
rs73392141
|
0.02008
|
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu)
|
rs767539123
|
0.01904
|
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)
|
rs35098198
|
0.01843
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)
|
rs35933246
|
0.01598
|
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)
|
rs74053349
|
0.01580
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000271.5(NPC1):c.882-40T>A
|
rs144469784
|
0.00420
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
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_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
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_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
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.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
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_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
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.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000271.5(NPC1):c.2088T>C (p.Ala696=)
|
rs377179697
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
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.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)
|
rs142147633
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
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_000543.5(SMPD1):c.733T>C (p.Tyr245His)
|
rs370178721
|
0.00009
|
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)
|
rs370828368
|
0.00008
|
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.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
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.2974G>C (p.Gly992Arg)
|
rs80358254
|
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.1632C>T (p.Thr544=)
|
rs201659696
|
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_000543.5(SMPD1):c.1764G>A (p.Thr588=)
|
rs774989668
|
0.00005
|
NM_000543.5(SMPD1):c.618C>T (p.Leu206=)
|
rs776180872
|
0.00005
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000271.5(NPC1):c.123T>C (p.Asn41=)
|
rs777848348
|
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.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)
|
rs369566518
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
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.1431G>A (p.Pro477=)
|
rs138588535
|
0.00003
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
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_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.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)
|
rs372445155
|
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_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
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_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
0.00002
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
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.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1356C>T (p.Asn452=)
|
rs758508630
|
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.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
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.2508A>G (p.Pro836=)
|
rs1468600723
|
0.00001
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
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.2972_2973del (p.Gln991fs)
|
rs756815030
|
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.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
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.783G>A (p.Thr261=)
|
rs770731602
|
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.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)
|
rs571806745
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr)
|
rs144624998
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)
|
rs554647710
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala)
|
rs770561559
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
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.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)
|
rs748936934
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
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.1318C>T (p.Leu440=)
|
rs1390796169
|
|
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
|
rs2058927956
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
NM_000271.5(NPC1):c.175G>T (p.Val59Leu)
|
rs1365313736
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
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.2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly)
|
rs748589476
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
|
rs769193340
|
|
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.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr)
|
rs2058638089
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
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_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
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.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His)
|
rs1400503556
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1380del (p.His461fs)
|
rs1848061158
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
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.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.318+7A>G
|
rs747913628
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala)
|
rs1366957686
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)
|
rs1172255199
|
|
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)
|
rs1847935299
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
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.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)
|
rs2086642019
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|