|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
|
NM_000271.5(NPC1):c.2911+28T>C
|
rs6507720
|
0.56005
|
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
|
NM_000271.5(NPC1):c.3754+34A>G
|
rs2510344
|
0.48972
|
|
NM_000271.5(NPC1):c.1757+60G>A
|
rs2435307
|
0.46769
|
|
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_000271.5(NPC1):c.1926= (p.Met642=)
|
rs1788799
|
0.26043
|
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
|
NM_000543.5(SMPD1):c.*45G>A
|
rs8164
|
0.17086
|
|
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_000271.4(NPC1):c.-238C>G
|
rs8099071
|
0.11990
|
|
NM_000543.5(SMPD1):c.1487-36C>T
|
rs11601088
|
0.10436
|
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
|
NM_000271.5(NPC1):c.-22A>C
|
rs2303880
|
0.08768
|
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
|
NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
|
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_000543.5(SMPD1):c.*91C>T
|
rs12273714
|
0.01778
|
|
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.1947+14G>T
|
rs3745024
|
0.01574
|
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
|
NM_000543.5(SMPD1):c.-45G>C
|
rs79282481
|
0.01446
|
|
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_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
|
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)
|
rs7227375
|
0.01251
|
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
|
NM_000271.4(NPC1):c.-179C>T
|
rs145693774
|
0.01171
|
|
NM_000271.5(NPC1):c.*164T>C
|
rs8086463
|
0.01169
|
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
|
NM_006432.5(NPC2):c.*295C>G
|
rs113587712
|
0.00892
|
|
NM_000271.5(NPC1):c.-32C>T
|
rs114070977
|
0.00885
|
|
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_000271.5(NPC1):c.*309_*315del
|
rs145236115
|
0.00648
|
|
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_006432.5(NPC2):c.*271C>T
|
rs75936194
|
0.00521
|
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
|
NM_006432.5(NPC2):c.190+14G>A
|
rs189666920
|
0.00476
|
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
|
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val)
|
rs61731969
|
0.00459
|
|
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_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
|
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.2795+19T>C
|
rs200103695
|
0.00342
|
|
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_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
|
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_000271.5(NPC1):c.-100C>G
|
rs553740667
|
0.00144
|
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
|
NM_000271.5(NPC1):c.*494G>T
|
rs201277520
|
0.00128
|
|
NM_000271.5(NPC1):c.*68G>A
|
rs139720390
|
0.00123
|
|
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.*83A>G
|
rs138499616
|
0.00115
|
|
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_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
|
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_000543.5(SMPD1):c.*272G>C
|
rs528743699
|
0.00102
|
|
NM_000271.5(NPC1):c.-110C>T
|
rs373558305
|
0.00100
|
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
|
NM_000271.5(NPC1):c.*94G>A
|
rs573009552
|
0.00086
|
|
NM_000271.5(NPC1):c.631+17C>T
|
rs115397659
|
0.00083
|
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
|
NM_000271.5(NPC1):c.2604+14_2604+16del
|
rs747422358
|
0.00074
|
|
NM_000271.5(NPC1):c.57+11G>C
|
rs548958639
|
0.00074
|
|
NM_000271.5(NPC1):c.*202C>T
|
rs535059744
|
0.00072
|
|
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_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
|
NM_000543.5(SMPD1):c.1340+12A>T
|
rs140221837
|
0.00069
|
|
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_000271.4(NPC1):c.-272A>C
|
rs540866381
|
0.00051
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_000543.5(SMPD1):c.319-17C>A
|
rs148370501
|
0.00048
|
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
|
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser)
|
rs147021046
|
0.00045
|
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
|
NM_000271.5(NPC1):c.1553+18A>G
|
rs373017634
|
0.00041
|
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
|
NM_000543.5(SMPD1):c.1091+10G>A
|
rs148067213
|
0.00033
|
|
NM_000271.5(NPC1):c.-36A>C
|
rs750622739
|
0.00031
|
|
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.-139G>A
|
rs781541939
|
0.00030
|
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
|
NM_000543.5(SMPD1):c.338G>A (p.Arg113His)
|
rs149770879
|
0.00029
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
|
NM_000271.5(NPC1):c.1947+6C>G
|
rs745432812
|
0.00026
|
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=)
|
rs774163596
|
0.00023
|
|
NM_006432.5(NPC2):c.*237G>A
|
rs185533644
|
0.00023
|
|
NM_000271.5(NPC1):c.181-15T>C
|
rs375367730
|
0.00022
|
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
|
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.*191C>A
|
rs534888589
|
0.00020
|
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
|
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)
|
rs146874573
|
0.00019
|
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
|
NM_000271.5(NPC1):c.1170G>A (p.Leu390=)
|
rs369109734
|
0.00018
|
|
NM_000271.5(NPC1):c.288-18A>G
|
rs772844838
|
0.00018
|
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
|
NM_000543.5(SMPD1):c.657G>A (p.Thr219=)
|
rs202032347
|
0.00017
|
|
NM_000271.5(NPC1):c.2100C>T (p.Asp700=)
|
rs372517881
|
0.00016
|
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
|
NM_000271.5(NPC1):c.3591+11T>C
|
rs545647631
|
0.00016
|
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
|
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly)
|
rs1373857908
|
0.00015
|
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
|
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.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
|
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)
|
rs140149624
|
0.00014
|
|
NM_000271.5(NPC1):c.1947+7_1947+9dup
|
rs1555634685
|
0.00014
|
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
|
NM_000271.5(NPC1):c.3477+14C>T
|
rs56043719
|
0.00014
|
|
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn)
|
rs201021988
|
0.00014
|
|
NM_000271.5(NPC1):c.786C>T (p.Ile262=)
|
rs138856517
|
0.00014
|
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
|
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)
|
rs201367689
|
0.00013
|
|
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)
|
rs373094778
|
0.00012
|
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
|
NM_000271.5(NPC1):c.-154C>T
|
rs746297876
|
0.00011
|
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
|
NM_000271.5(NPC1):c.2514+11dup
|
rs773276283
|
0.00011
|
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
|
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=)
|
rs201460899
|
0.00011
|
|
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)
|
rs777356809
|
0.00011
|
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00011
|
|
NM_000271.5(NPC1):c.398T>G (p.Val133Gly)
|
rs375039992
|
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.336T>C (p.Ala112=)
|
rs543145636
|
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.897C>T (p.Thr299=)
|
rs536760557
|
0.00011
|
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
|
NM_000271.5(NPC1):c.180+8C>T
|
rs778096289
|
0.00010
|
|
NM_000271.5(NPC1):c.181-3A>G
|
rs371126954
|
0.00010
|
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
|
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_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)
|
rs140527006
|
0.00010
|
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
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.3477+15A>G
|
rs369049242
|
0.00009
|
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
|
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His)
|
rs563385810
|
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_000271.5(NPC1):c.57+17C>T
|
rs1186978498
|
0.00009
|
|
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr)
|
rs572337787
|
0.00009
|
|
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys)
|
rs370198638
|
0.00009
|
|
NM_000543.5(SMPD1):c.1383T>C (p.His461=)
|
rs570284983
|
0.00009
|
|
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)
|
rs370178721
|
0.00009
|
|
NM_000271.5(NPC1):c.2493G>A (p.Lys831=)
|
rs150000422
|
0.00008
|
|
NM_000271.5(NPC1):c.273A>G (p.Leu91=)
|
rs370718676
|
0.00008
|
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
|
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=)
|
rs371160947
|
0.00008
|
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
|
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00008
|
|
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)
|
rs370828368
|
0.00008
|
|
NM_000543.5(SMPD1):c.900C>T (p.Thr300=)
|
rs368353322
|
0.00008
|
|
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro)
|
rs147602717
|
0.00008
|
|
NM_000271.5(NPC1):c.1506C>G (p.Asp502Glu)
|
rs191537721
|
0.00007
|
|
NM_000271.5(NPC1):c.1655-11T>C
|
rs574021301
|
0.00007
|
|
NM_000271.5(NPC1):c.1947+11G>T
|
rs747957171
|
0.00007
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insT
|
rs1555634643
|
0.00007
|
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
|
NM_000271.5(NPC1):c.912C>T (p.Pro304=)
|
rs140894981
|
0.00007
|
|
NM_000543.5(SMPD1):c.174G>A (p.Pro58=)
|
rs368143181
|
0.00007
|
|
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys)
|
rs143719170
|
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.1504G>A (p.Asp502Asn)
|
rs1416446081
|
0.00006
|
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
|
NM_000271.5(NPC1):c.1837C>T (p.Leu613=)
|
rs147281003
|
0.00006
|
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
|
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)
|
rs202046984
|
0.00006
|
|
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr)
|
rs139297968
|
0.00006
|
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
|
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)
|
rs373517774
|
0.00006
|
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
|
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp)
|
rs141243713
|
0.00006
|
|
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser)
|
rs549048534
|
0.00006
|
|
NM_000271.5(NPC1):c.631+19A>G
|
rs371704068
|
0.00006
|
|
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)
|
rs752896980
|
0.00006
|
|
NM_000543.5(SMPD1):c.1125C>T (p.Pro375=)
|
rs376871416
|
0.00006
|
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
|
NM_000543.5(SMPD1):c.1335A>G (p.Val445=)
|
rs769400504
|
0.00006
|
|
NM_000543.5(SMPD1):c.1497G>A (p.Val499=)
|
rs749498245
|
0.00006
|
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
|
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys)
|
rs375570126
|
0.00006
|
|
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His)
|
rs189116118
|
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_000543.5(SMPD1):c.551C>T (p.Pro184Leu)
|
rs760203204
|
0.00006
|
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
|
NM_006432.5(NPC2):c.330G>C (p.Leu110=)
|
rs762424530
|
0.00006
|
|
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)
|
rs746372120
|
0.00005
|
|
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)
|
rs141892620
|
0.00005
|
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
|
NM_000271.5(NPC1):c.1758-15T>C
|
rs755600050
|
0.00005
|
|
NM_000271.5(NPC1):c.1902T>C (p.Tyr634=)
|
rs141293476
|
0.00005
|
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
|
NM_000271.5(NPC1):c.3519A>G (p.Arg1173=)
|
rs775542483
|
0.00005
|
|
NM_000271.5(NPC1):c.3750C>T (p.Tyr1250=)
|
rs758814720
|
0.00005
|
|
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala)
|
rs773448915
|
0.00005
|
|
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly)
|
rs748432821
|
0.00005
|
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
|
NM_000543.5(SMPD1):c.1091+13C>T
|
rs371340833
|
0.00005
|
|
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys)
|
rs570674743
|
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_000543.5(SMPD1):c.894G>C (p.Leu298=)
|
rs371688255
|
0.00005
|
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
|
NM_006432.5(NPC2):c.30C>T (p.Leu10=)
|
rs142190691
|
0.00005
|
|
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)
|
rs757377148
|
0.00005
|
|
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln)
|
rs373390781
|
0.00004
|
|
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn)
|
rs761903316
|
0.00004
|
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
|
NM_000271.5(NPC1):c.1166G>A (p.Arg389His)
|
rs373751051
|
0.00004
|
|
NM_000271.5(NPC1):c.123T>C (p.Asn41=)
|
rs777848348
|
0.00004
|
|
NM_000271.5(NPC1):c.1275G>A (p.Ser425=)
|
rs190032589
|
0.00004
|
|
NM_000271.5(NPC1):c.1327-9T>A
|
rs375922122
|
0.00004
|
|
NM_000271.5(NPC1):c.1440C>T (p.Thr480=)
|
rs1376199501
|
0.00004
|
|
NM_000271.5(NPC1):c.1581T>A (p.Ser527Arg)
|
rs769935106
|
0.00004
|
|
NM_000271.5(NPC1):c.1608G>A (p.Thr536=)
|
rs372770463
|
0.00004
|
|
NM_000271.5(NPC1):c.1629G>A (p.Pro543=)
|
rs557129077
|
0.00004
|
|
NM_000271.5(NPC1):c.1671C>T (p.Asn557=)
|
rs772427096
|
0.00004
|
|
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys)
|
rs750033860
|
0.00004
|
|
NM_000271.5(NPC1):c.181-4A>C
|
rs374571310
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+19G>C
|
rs781264557
|
0.00004
|
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
|
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala)
|
rs776873102
|
0.00004
|
|
NM_000271.5(NPC1):c.2352G>C (p.Gly784=)
|
rs140103678
|
0.00004
|
|
NM_000271.5(NPC1):c.2456G>A (p.Arg819His)
|
rs751952669
|
0.00004
|
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
|
NM_000271.5(NPC1):c.2556C>T (p.Val852=)
|
rs767066917
|
0.00004
|
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
|
NM_000271.5(NPC1):c.2911+4C>T
|
rs186588103
|
0.00004
|
|
NM_000271.5(NPC1):c.2912-5G>A
|
rs369985476
|
0.00004
|
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
|
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=)
|
rs750054620
|
0.00004
|
|
NM_000271.5(NPC1):c.3132G>A (p.Val1044=)
|
rs138054593
|
0.00004
|
|
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=)
|
rs911696662
|
0.00004
|
|
NM_000271.5(NPC1):c.3506G>T (p.Ser1169Ile)
|
rs139612110
|
0.00004
|
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
|
NM_000271.5(NPC1):c.546C>T (p.Asp182=)
|
rs572499557
|
0.00004
|
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
|
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)
|
rs148892841
|
0.00004
|
|
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His)
|
rs750345585
|
0.00004
|
|
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=)
|
rs755182589
|
0.00004
|
|
NM_000543.5(SMPD1):c.1233G>A (p.Glu411=)
|
rs34555120
|
0.00004
|
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
|
NM_000543.5(SMPD1):c.319-10C>T
|
rs749287829
|
0.00004
|
|
NM_000543.5(SMPD1):c.39C>T (p.Pro13=)
|
rs775473869
|
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.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
|
NM_000543.5(SMPD1):c.552G>A (p.Pro184=)
|
rs768265842
|
0.00004
|
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
|
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)
|
rs757850587
|
0.00004
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
|
NM_006432.5(NPC2):c.168C>T (p.Ser56=)
|
rs761208847
|
0.00004
|
|
NM_006432.5(NPC2):c.190+17C>G
|
rs572299295
|
0.00004
|
|
NM_006432.5(NPC2):c.190+4C>T
|
rs776980208
|
0.00004
|
|
NM_006432.5(NPC2):c.442-8A>C
|
rs758764082
|
0.00004
|
|
NM_006432.5(NPC2):c.57C>T (p.Ala19=)
|
rs752818745
|
0.00004
|
|
NM_000271.5(NPC1):c.-31G>A
|
rs886053668
|
0.00003
|
|
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)
|
rs376741451
|
0.00003
|
|
NM_000271.5(NPC1):c.110A>G (p.Asp37Gly)
|
rs776181190
|
0.00003
|
|
NM_000271.5(NPC1):c.1140C>G (p.Leu380=)
|
rs746501807
|
0.00003
|
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
0.00003
|
|
NM_000271.5(NPC1):c.1533G>A (p.Thr511=)
|
rs778890495
|
0.00003
|
|
NM_000271.5(NPC1):c.1548C>T (p.Cys516=)
|
rs763680535
|
0.00003
|
|
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.1756G>A (p.Glu586Lys)
|
rs369753548
|
0.00003
|
|
NM_000271.5(NPC1):c.181-16C>T
|
rs574028536
|
0.00003
|
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
0.00003
|
|
NM_000271.5(NPC1):c.1938C>T (p.Arg646=)
|
rs767794928
|
0.00003
|
|
NM_000271.5(NPC1):c.1947+7_1947+10dup
|
rs1555634678
|
0.00003
|
|
NM_000271.5(NPC1):c.2001G>A (p.Ser667=)
|
rs762100560
|
0.00003
|
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
|
NM_000271.5(NPC1):c.2268C>T (p.Ala756=)
|
rs536329623
|
0.00003
|
|
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp)
|
rs766822145
|
0.00003
|
|
NM_000271.5(NPC1):c.2397C>T (p.Cys799=)
|
rs769196521
|
0.00003
|
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
|
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
|
rs769612789
|
0.00003
|
|
NM_000271.5(NPC1):c.2727C>T (p.Cys909=)
|
rs774773656
|
0.00003
|
|
NM_000271.5(NPC1):c.2796-4C>T
|
rs374406578
|
0.00003
|
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
|
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln)
|
rs969498640
|
0.00003
|
|
NM_000271.5(NPC1):c.3042-18C>T
|
rs370846875
|
0.00003
|
|
NM_000271.5(NPC1):c.3324G>A (p.Ala1108=)
|
rs373245725
|
0.00003
|
|
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)
|
rs558264503
|
0.00003
|
|
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser)
|
rs374150662
|
0.00003
|
|
NM_000271.5(NPC1):c.3818A>G (p.Glu1273Gly)
|
rs374032318
|
0.00003
|
|
NM_000271.5(NPC1):c.467T>C (p.Met156Thr)
|
rs147615070
|
0.00003
|
|
NM_000271.5(NPC1):c.813C>T (p.Ile271=)
|
rs1243631694
|
0.00003
|
|
NM_000271.5(NPC1):c.89A>T (p.Glu30Val)
|
rs776166330
|
0.00003
|
|
NM_000271.5(NPC1):c.936T>G (p.Ser312=)
|
rs377568493
|
0.00003
|
|
NM_000271.5(NPC1):c.963G>A (p.Ala321=)
|
rs763990769
|
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.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
0.00003
|
|
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg)
|
rs538153468
|
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.843C>T (p.Ile281=)
|
rs1457587365
|
0.00003
|
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
|
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser)
|
rs142476839
|
0.00003
|
|
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
|
rs774036281
|
0.00003
|
|
NM_006432.5(NPC2):c.216C>T (p.Ala72=)
|
rs773861377
|
0.00003
|
|
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg)
|
rs930750290
|
0.00003
|
|
NM_006432.5(NPC2):c.453C>G (p.Leu151=)
|
rs766378122
|
0.00003
|
|
NM_006432.5(NPC2):c.83-4G>A
|
rs758359849
|
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.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.1422G>A (p.Pro474=)
|
rs367900403
|
0.00002
|
|
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys)
|
rs755718928
|
0.00002
|
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
|
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys)
|
rs368129141
|
0.00002
|
|
NM_000271.5(NPC1):c.1947+7C>T
|
rs56394541
|
0.00002
|
|
NM_000271.5(NPC1):c.1948-16C>T
|
rs749272156
|
0.00002
|
|
NM_000271.5(NPC1):c.1948-5C>T
|
rs778035488
|
0.00002
|
|
NM_000271.5(NPC1):c.2130+13A>G
|
rs748156837
|
0.00002
|
|
NM_000271.5(NPC1):c.2240T>C (p.Phe747Ser)
|
rs1490823282
|
0.00002
|
|
NM_000271.5(NPC1):c.2245+16A>G
|
rs766131698
|
0.00002
|
|
NM_000271.5(NPC1):c.2245+19C>T
|
rs374377081
|
0.00002
|
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
|
NM_000271.5(NPC1):c.2413G>A (p.Glu805Lys)
|
rs775077140
|
0.00002
|
|
NM_000271.5(NPC1):c.2449T>C (p.Leu817=)
|
rs376980859
|
0.00002
|
|
NM_000271.5(NPC1):c.2593T>G (p.Ser865Ala)
|
rs977397569
|
0.00002
|
|
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile)
|
rs1019159514
|
0.00002
|
|
NM_000271.5(NPC1):c.2643G>A (p.Gln881=)
|
rs1350455118
|
0.00002
|
|
NM_000271.5(NPC1):c.2677C>T (p.Leu893=)
|
rs756756960
|
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.2790C>T (p.Asp930=)
|
rs762053127
|
0.00002
|
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
|
NM_000271.5(NPC1):c.2912-6C>T
|
rs768256586
|
0.00002
|
|
NM_000271.5(NPC1):c.2928C>T (p.Cys976=)
|
rs370766410
|
0.00002
|
|
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
|
rs755143457
|
0.00002
|
|
NM_000271.5(NPC1):c.2952G>A (p.Pro984=)
|
rs749366756
|
0.00002
|
|
NM_000271.5(NPC1):c.3048T>C (p.His1016=)
|
rs369362891
|
0.00002
|
|
NM_000271.5(NPC1):c.306T>C (p.Tyr102=)
|
rs751249367
|
0.00002
|
|
NM_000271.5(NPC1):c.3288C>T (p.Asp1096=)
|
rs371093388
|
0.00002
|
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
|
NM_000271.5(NPC1):c.3447G>A (p.Leu1149=)
|
rs147249773
|
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.3547C>T (p.Arg1183Cys)
|
rs755029556
|
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.3794A>T (p.Glu1265Val)
|
rs751251790
|
0.00002
|
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
|
NM_000271.5(NPC1):c.47G>A (p.Cys16Tyr)
|
rs1407142143
|
0.00002
|
|
NM_000271.5(NPC1):c.564C>T (p.Asn188=)
|
rs1368112701
|
0.00002
|
|
NM_000271.5(NPC1):c.58-5T>G
|
rs377124729
|
0.00002
|
|
NM_000271.5(NPC1):c.58-6C>T
|
rs756180012
|
0.00002
|
|
NM_000271.5(NPC1):c.631+3A>G
|
rs759746113
|
0.00002
|
|
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr)
|
rs886053667
|
0.00002
|
|
NM_000271.5(NPC1):c.900C>T (p.Ser300=)
|
rs377728310
|
0.00002
|
|
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn)
|
rs747243586
|
0.00002
|
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
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.1203C>T (p.Pro401=)
|
rs376494095
|
0.00002
|
|
NM_000543.5(SMPD1):c.1212G>A (p.Gln404=)
|
rs771755385
|
0.00002
|
|
NM_000543.5(SMPD1):c.1302G>A (p.Leu434=)
|
rs754326223
|
0.00002
|
|
NM_000543.5(SMPD1):c.1340+8G>A
|
rs373742012
|
0.00002
|
|
NM_000543.5(SMPD1):c.1386G>A (p.Val462=)
|
rs763521056
|
0.00002
|
|
NM_000543.5(SMPD1):c.138G>T (p.Ala46=)
|
rs200763765
|
0.00002
|
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
|
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
0.00002
|
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
|
NM_000543.5(SMPD1):c.1521C>T (p.Ser507=)
|
rs149423664
|
0.00002
|
|
NM_000543.5(SMPD1):c.1794G>A (p.Gln598=)
|
rs761689892
|
0.00002
|
|
NM_000543.5(SMPD1):c.198C>T (p.Pro66=)
|
rs770037147
|
0.00002
|
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
|
NM_000543.5(SMPD1):c.318+10G>C
|
rs367666720
|
0.00002
|
|
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser)
|
rs747223735
|
0.00002
|
|
NM_000543.5(SMPD1):c.627G>C (p.Leu209=)
|
rs200443318
|
0.00002
|
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
|
NM_000543.5(SMPD1):c.766C>T (p.Leu256=)
|
rs1218708186
|
0.00002
|
|
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
|
NM_000543.5(SMPD1):c.966A>G (p.Glu322=)
|
rs746711794
|
0.00002
|
|
NM_006432.5(NPC2):c.*86G>A
|
rs146900446
|
0.00002
|
|
NM_006432.5(NPC2):c.207C>T (p.Ser69=)
|
rs970173671
|
0.00002
|
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
|
NM_006432.5(NPC2):c.45C>A (p.Thr15=)
|
rs1025180543
|
0.00002
|
|
NM_000271.5(NPC1):c.*718C>T
|
rs1227797863
|
0.00001
|
|
NM_000271.5(NPC1):c.-29C>G
|
rs762126552
|
0.00001
|
|
NM_000271.5(NPC1):c.1007G>A (p.Arg336Lys)
|
rs2058955195
|
0.00001
|
|
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)
|
rs1444308532
|
0.00001
|
|
NM_000271.5(NPC1):c.1038C>T (p.Cys346=)
|
rs142119577
|
0.00001
|
|
NM_000271.5(NPC1):c.1068C>T (p.Phe356=)
|
rs752521740
|
0.00001
|
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
|
NM_000271.5(NPC1):c.1077C>T (p.Val359=)
|
rs759389979
|
0.00001
|
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
|
NM_000271.5(NPC1):c.1095G>A (p.Ser365=)
|
rs150597260
|
0.00001
|
|
NM_000271.5(NPC1):c.1098A>G (p.Ser366=)
|
rs1006770318
|
0.00001
|
|
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)
|
rs120074134
|
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.1214C>T (p.Thr405Met)
|
rs764364312
|
0.00001
|
|
NM_000271.5(NPC1):c.1215G>A (p.Thr405=)
|
rs763166048
|
0.00001
|
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
|
NM_000271.5(NPC1):c.1233G>A (p.Arg411=)
|
rs777041778
|
0.00001
|
|
NM_000271.5(NPC1):c.1257T>G (p.Ile419Met)
|
rs1452719623
|
0.00001
|
|
NM_000271.5(NPC1):c.126C>T (p.Cys42=)
|
rs149612530
|
0.00001
|
|
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser)
|
rs143797098
|
0.00001
|
|
NM_000271.5(NPC1):c.1302G>A (p.Pro434=)
|
rs756074494
|
0.00001
|
|
NM_000271.5(NPC1):c.1350C>T (p.Ile450=)
|
rs368945671
|
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.1386G>A (p.Val462=)
|
rs1233723809
|
0.00001
|
|
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)
|
rs1555636685
|
0.00001
|
|
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)
|
rs201226297
|
0.00001
|
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
|
NM_000271.5(NPC1):c.1452G>C (p.Val484=)
|
rs1191599177
|
0.00001
|
|
NM_000271.5(NPC1):c.1499G>A (p.Gly500Glu)
|
rs748246747
|
0.00001
|
|
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)
|
rs751951695
|
0.00001
|
|
NM_000271.5(NPC1):c.1569G>A (p.Leu523=)
|
rs1376770067
|
0.00001
|
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
|
NM_000271.5(NPC1):c.1649A>G (p.Tyr550Cys)
|
rs758823922
|
0.00001
|
|
NM_000271.5(NPC1):c.168T>C (p.Tyr56=)
|
rs368182150
|
0.00001
|
|
NM_000271.5(NPC1):c.1723G>C (p.Glu575Gln)
|
rs767236379
|
0.00001
|
|
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
|
rs751586141
|
0.00001
|
|
NM_000271.5(NPC1):c.1758-10T>C
|
rs750073255
|
0.00001
|
|
NM_000271.5(NPC1):c.1764T>C (p.Ile588=)
|
rs1380492295
|
0.00001
|
|
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser)
|
rs201236716
|
0.00001
|
|
NM_000271.5(NPC1):c.1801A>G (p.Ile601Val)
|
rs1443429857
|
0.00001
|
|
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)
|
rs76615690
|
0.00001
|
|
NM_000271.5(NPC1):c.1875A>G (p.Val625=)
|
rs769227666
|
0.00001
|
|
NM_000271.5(NPC1):c.1923C>T (p.His641=)
|
rs758222159
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+4A>G
|
rs577147812
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+9G>C
|
rs56104765
|
0.00001
|
|
NM_000271.5(NPC1):c.1948-12C>T
|
rs779932903
|
0.00001
|
|
NM_000271.5(NPC1):c.1948-1G>A
|
rs1555634508
|
0.00001
|
|
NM_000271.5(NPC1):c.1956G>A (p.Ser652=)
|
rs759777593
|
0.00001
|
|
NM_000271.5(NPC1):c.1962C>T (p.Val654=)
|
rs1374257305
|
0.00001
|
|
NM_000271.5(NPC1):c.1974C>T (p.Ile658=)
|
rs760323508
|
0.00001
|
|
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val)
|
rs140786703
|
0.00001
|
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
|
NM_000271.5(NPC1):c.1998C>T (p.Ser666=)
|
rs373250439
|
0.00001
|
|
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu)
|
rs778177842
|
0.00001
|
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
|
NM_000271.5(NPC1):c.2083C>G (p.Leu695Val)
|
rs370323921
|
0.00001
|
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
|
NM_000271.5(NPC1):c.210T>C (p.Asn70=)
|
rs1157753581
|
0.00001
|
|
NM_000271.5(NPC1):c.2131-1del
|
rs1567954054
|
0.00001
|
|
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys)
|
rs770762664
|
0.00001
|
|
NM_000271.5(NPC1):c.2148A>G (p.Gln716=)
|
rs774299911
|
0.00001
|
|
NM_000271.5(NPC1):c.2158C>T (p.Leu720=)
|
rs1339959181
|
0.00001
|
|
NM_000271.5(NPC1):c.2172G>T (p.Leu724=)
|
rs780387245
|
0.00001
|
|
NM_000271.5(NPC1):c.2178G>A (p.Arg726=)
|
rs770324592
|
0.00001
|
|
NM_000271.5(NPC1):c.2193G>A (p.Val731=)
|
rs1163772145
|
0.00001
|
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
|
NM_000271.5(NPC1):c.222T>C (p.Cys74=)
|
rs779329099
|
0.00001
|
|
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu)
|
rs752386083
|
0.00001
|
|
NM_000271.5(NPC1):c.2246-4A>G
|
rs1054383421
|
0.00001
|
|
NM_000271.5(NPC1):c.2246-8C>T
|
rs1400018382
|
0.00001
|
|
NM_000271.5(NPC1):c.2251T>C (p.Leu751=)
|
rs766114585
|
0.00001
|
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
|
NM_000271.5(NPC1):c.2286C>T (p.Leu762=)
|
rs372431637
|
0.00001
|
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
|
NM_000271.5(NPC1):c.2331C>G (p.Thr777=)
|
rs2058711076
|
0.00001
|
|
NM_000271.5(NPC1):c.2369A>G (p.Gln790Arg)
|
rs761014306
|
0.00001
|
|
NM_000271.5(NPC1):c.2370A>G (p.Gln790=)
|
rs1196248392
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+8G>A
|
rs772364989
|
0.00001
|
|
NM_000271.5(NPC1):c.2374-13T>C
|
rs773375065
|
0.00001
|
|
NM_000271.5(NPC1):c.2472C>G (p.Ser824=)
|
rs1567951608
|
0.00001
|
|
NM_000271.5(NPC1):c.2490A>G (p.Leu830=)
|
rs1356141580
|
0.00001
|
|
NM_000271.5(NPC1):c.2508A>G (p.Pro836=)
|
rs1468600723
|
0.00001
|
|
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr)
|
rs758474760
|
0.00001
|
|
NM_000271.5(NPC1):c.2511T>C (p.Ile837=)
|
rs369793282
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+9T>C
|
rs1466320929
|
0.00001
|
|
NM_000271.5(NPC1):c.2515-10G>T
|
rs1410751528
|
0.00001
|
|
NM_000271.5(NPC1):c.2515-16T>G
|
rs913507294
|
0.00001
|
|
NM_000271.5(NPC1):c.2521A>G (p.Ile841Val)
|
rs757285562
|
0.00001
|
|
NM_000271.5(NPC1):c.2533G>T (p.Val845Phe)
|
rs562253150
|
0.00001
|
|
NM_000271.5(NPC1):c.255C>G (p.Asp85Glu)
|
rs2059212616
|
0.00001
|
|
NM_000271.5(NPC1):c.2595G>A (p.Ser865=)
|
rs775373435
|
0.00001
|
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
|
NM_000271.5(NPC1):c.2604+8G>C
|
rs1258459284
|
0.00001
|
|
NM_000271.5(NPC1):c.2619G>A (p.Val873=)
|
rs2058689890
|
0.00001
|
|
NM_000271.5(NPC1):c.2634C>T (p.Ser878=)
|
rs2058689667
|
0.00001
|
|
NM_000271.5(NPC1):c.2635A>G (p.Ile879Val)
|
rs904277386
|
0.00001
|
|
NM_000271.5(NPC1):c.2664T>C (p.Pro888=)
|
rs780680963
|
0.00001
|
|
NM_000271.5(NPC1):c.2700T>C (p.Thr900=)
|
rs752492658
|
0.00001
|
|
NM_000271.5(NPC1):c.271C>T (p.Leu91=)
|
rs773809600
|
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.2778G>A (p.Ala926=)
|
rs754772486
|
0.00001
|
|
NM_000271.5(NPC1):c.2781G>A (p.Ala927=)
|
rs766328496
|
0.00001
|
|
NM_000271.5(NPC1):c.2795+9C>A
|
rs770100738
|
0.00001
|
|
NM_000271.5(NPC1):c.2796-8C>T
|
rs2058681339
|
0.00001
|
|
NM_000271.5(NPC1):c.2796-9C>T
|
rs1196732533
|
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.2802A>C (p.Arg934=)
|
rs771234472
|
0.00001
|
|
NM_000271.5(NPC1):c.2811C>T (p.Phe937=)
|
rs747545090
|
0.00001
|
|
NM_000271.5(NPC1):c.2817C>G (p.Pro939=)
|
rs747681496
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.2829C>T (p.Ile943=)
|
rs1200552626
|
0.00001
|
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
|
NM_000271.5(NPC1):c.2841C>T (p.Phe947=)
|
rs755936884
|
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.2850G>A (p.Val950=)
|
rs548644873
|
0.00001
|
|
NM_000271.5(NPC1):c.2865T>C (p.Ser955=)
|
rs904728250
|
0.00001
|
|
NM_000271.5(NPC1):c.288-7C>T
|
rs1243567350
|
0.00001
|
|
NM_000271.5(NPC1):c.28C>T (p.Leu10Phe)
|
rs1272422974
|
0.00001
|
|
NM_000271.5(NPC1):c.2912-12T>C
|
rs774683240
|
0.00001
|
|
NM_000271.5(NPC1):c.2912-13A>G
|
rs762407606
|
0.00001
|
|
NM_000271.5(NPC1):c.2922T>G (p.Pro974=)
|
rs1312623801
|
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.2942C>T (p.Pro981Leu)
|
rs1567948691
|
0.00001
|
|
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)
|
rs1364834942
|
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.3027C>G (p.Pro1009=)
|
rs759291033
|
0.00001
|
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
|
NM_000271.5(NPC1):c.3039A>G (p.Lys1013=)
|
rs773268548
|
0.00001
|
|
NM_000271.5(NPC1):c.3041+10G>A
|
rs965937353
|
0.00001
|
|
NM_000271.5(NPC1):c.3042-13A>T
|
rs1337981339
|
0.00001
|
|
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
|
rs146666146
|
0.00001
|
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
|
NM_000271.5(NPC1):c.3066A>C (p.Ala1022=)
|
rs1459967257
|
0.00001
|
|
NM_000271.5(NPC1):c.3099C>T (p.Val1033=)
|
rs753304482
|
0.00001
|
|
NM_000271.5(NPC1):c.30C>T (p.Leu10=)
|
rs1432179735
|
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.3108G>A (p.Thr1036=)
|
rs530175301
|
0.00001
|
|
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
|
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)
|
rs80358258
|
0.00001
|
|
NM_000271.5(NPC1):c.3162T>G (p.Ala1054=)
|
rs1436741694
|
0.00001
|
|
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met)
|
rs776593644
|
0.00001
|
|
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe)
|
rs1285316145
|
0.00001
|
|
NM_000271.5(NPC1):c.318C>T (p.Asn106=)
|
rs763618439
|
0.00001
|
|
NM_000271.5(NPC1):c.3196A>G (p.Thr1066Ala)
|
rs747903100
|
0.00001
|
|
NM_000271.5(NPC1):c.3197C>A (p.Thr1066Asn)
|
rs772622214
|
0.00001
|
|
NM_000271.5(NPC1):c.3216C>T (p.Asn1072=)
|
rs779463609
|
0.00001
|
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
|
NM_000271.5(NPC1):c.3245+10G>A
|
rs375928251
|
0.00001
|
|
NM_000271.5(NPC1):c.324T>C (p.Phe108=)
|
rs138795996
|
0.00001
|
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
|
NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=)
|
rs768992863
|
0.00001
|
|
NM_000271.5(NPC1):c.3273C>T (p.Tyr1091=)
|
rs1598937493
|
0.00001
|
|
NM_000271.5(NPC1):c.3294T>C (p.Thr1098=)
|
rs780795762
|
0.00001
|
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
|
NM_000271.5(NPC1):c.3325A>G (p.Ile1109Val)
|
rs368642053
|
0.00001
|
|
NM_000271.5(NPC1):c.3328T>C (p.Phe1110Leu)
|
rs753725948
|
0.00001
|
|
NM_000271.5(NPC1):c.3391A>G (p.Ile1131Val)
|
rs1462436957
|
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.3432C>G (p.Leu1144=)
|
rs191526202
|
0.00001
|
|
NM_000271.5(NPC1):c.3477+20_3477+21del
|
rs754658312
|
0.00001
|
|
NM_000271.5(NPC1):c.3477+2T>C
|
rs772898831
|
0.00001
|
|
NM_000271.5(NPC1):c.3477+7C>T
|
rs1455802023
|
0.00001
|
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
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.3522G>A (p.Ala1174=)
|
rs769887943
|
0.00001
|
|
NM_000271.5(NPC1):c.3549C>T (p.Arg1183=)
|
rs766831960
|
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.3576C>G (p.Ala1192=)
|
rs1393270334
|
0.00001
|
|
NM_000271.5(NPC1):c.3577C>T (p.His1193Tyr)
|
rs375309094
|
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.3592-15T>C
|
rs746006854
|
0.00001
|
|
NM_000271.5(NPC1):c.3592-9_3592-8del
|
rs1376430791
|
0.00001
|
|
NM_000271.5(NPC1):c.3594G>A (p.Val1198=)
|
rs1440442725
|
0.00001
|
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
|
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser)
|
rs764991360
|
0.00001
|
|
NM_000271.5(NPC1):c.3630T>G (p.Ile1210Met)
|
rs1178040336
|
0.00001
|
|
NM_000271.5(NPC1):c.3639G>A (p.Leu1213=)
|
rs120074131
|
0.00001
|
|
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
|
rs1161321094
|
0.00001
|
|
NM_000271.5(NPC1):c.372A>T (p.Thr124=)
|
rs748125983
|
0.00001
|
|
NM_000271.5(NPC1):c.3735T>C (p.Pro1245=)
|
rs1206106041
|
0.00001
|
|
NM_000271.5(NPC1):c.3744C>T (p.Leu1248=)
|
rs1449318024
|
0.00001
|
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
|
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr)
|
rs986146604
|
0.00001
|
|
NM_000271.5(NPC1):c.3763G>A (p.Val1255Ile)
|
rs755597503
|
0.00001
|
|
NM_000271.5(NPC1):c.3804A>G (p.Lys1268=)
|
rs1280300361
|
0.00001
|
|
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
|
rs200264267
|
0.00001
|
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
|
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp)
|
rs544089597
|
0.00001
|
|
NM_000271.5(NPC1):c.3828A>G (p.Leu1276=)
|
rs769465763
|
0.00001
|
|
NM_000271.5(NPC1):c.3830A>G (p.Asn1277Ser)
|
rs745328444
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000271.5(NPC1):c.411G>A (p.Thr137=)
|
rs756405444
|
0.00001
|
|
NM_000271.5(NPC1):c.441C>T (p.Tyr147=)
|
rs1388736731
|
0.00001
|
|
NM_000271.5(NPC1):c.444C>T (p.Val148=)
|
rs899764342
|
0.00001
|
|
NM_000271.5(NPC1):c.463+15A>C
|
rs1000226677
|
0.00001
|
|
NM_000271.5(NPC1):c.464-9C>T
|
rs746194096
|
0.00001
|
|
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
|
rs887908568
|
0.00001
|
|
NM_000271.5(NPC1):c.513G>A (p.Lys171=)
|
rs754849769
|
0.00001
|
|
NM_000271.5(NPC1):c.515C>T (p.Ala172Val)
|
rs753654470
|
0.00001
|
|
NM_000271.5(NPC1):c.51A>T (p.Pro17=)
|
rs1175682189
|
0.00001
|
|
NM_000271.5(NPC1):c.522A>G (p.Gly174=)
|
rs201249935
|
0.00001
|
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
|
NM_000271.5(NPC1):c.58-4G>A
|
rs767683969
|
0.00001
|
|
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
|
rs754653682
|
0.00001
|
|
NM_000271.5(NPC1):c.591C>T (p.Asp197=)
|
rs1435325792
|
0.00001
|
|
NM_000271.5(NPC1):c.615C>T (p.Ile205=)
|
rs767452406
|
0.00001
|
|
NM_000271.5(NPC1):c.631+2T>C
|
rs1555638833
|
0.00001
|
|
NM_000271.5(NPC1):c.631+7A>G
|
rs886044570
|
0.00001
|
|
NM_000271.5(NPC1):c.632-7T>C
|
rs781044030
|
0.00001
|
|
NM_000271.5(NPC1):c.663C>T (p.Asn221=)
|
rs2059022151
|
0.00001
|
|
NM_000271.5(NPC1):c.684C>T (p.Asp228=)
|
rs558452690
|
0.00001
|
|
NM_000271.5(NPC1):c.690T>G (p.Ser230=)
|
rs768304872
|
0.00001
|
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
|
NM_000271.5(NPC1):c.72C>T (p.Ser24=)
|
rs764560779
|
0.00001
|
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
|
NM_000271.5(NPC1):c.744C>T (p.Gly248=)
|
rs766556966
|
0.00001
|
|
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr)
|
rs536360132
|
0.00001
|
|
NM_000271.5(NPC1):c.756G>A (p.Gln252=)
|
rs768008295
|
0.00001
|
|
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser)
|
rs373815982
|
0.00001
|
|
NM_000271.5(NPC1):c.783G>A (p.Thr261=)
|
rs770731602
|
0.00001
|
|
NM_000271.5(NPC1):c.798C>T (p.Asp266=)
|
rs199887728
|
0.00001
|
|
NM_000271.5(NPC1):c.822C>T (p.Ile274=)
|
rs1355151756
|
0.00001
|
|
NM_000271.5(NPC1):c.834G>A (p.Ala278=)
|
rs146105340
|
0.00001
|
|
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys)
|
rs1232191827
|
0.00001
|
|
NM_000271.5(NPC1):c.870G>A (p.Val290=)
|
rs149559712
|
0.00001
|
|
NM_000271.5(NPC1):c.881+6C>T
|
rs1180731498
|
0.00001
|
|
NM_000271.5(NPC1):c.882-7T>C
|
rs1422381609
|
0.00001
|
|
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln)
|
rs774386583
|
0.00001
|
|
NM_000271.5(NPC1):c.888G>A (p.Arg296=)
|
rs369775984
|
0.00001
|
|
NM_000271.5(NPC1):c.915C>T (p.Ile305=)
|
rs1452021800
|
0.00001
|
|
NM_000271.5(NPC1):c.945A>G (p.Ala315=)
|
rs2058965361
|
0.00001
|
|
NM_000271.5(NPC1):c.956-11C>T
|
rs780491021
|
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_000271.5(NPC1):c.97A>T (p.Ile33Phe)
|
rs1244447626
|
0.00001
|
|
NM_000271.5(NPC1):c.990A>G (p.Ala330=)
|
rs772406728
|
0.00001
|
|
NM_000543.5(SMPD1):c.*183T>G
|
rs886048448
|
0.00001
|
|
NM_000543.5(SMPD1):c.-39A>T
|
rs767402489
|
0.00001
|
|
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
|
rs759950370
|
0.00001
|
|
NM_000543.5(SMPD1):c.1017C>T (p.Ser339=)
|
rs1040248510
|
0.00001
|
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
|
NM_000543.5(SMPD1):c.1078C>T (p.Leu360=)
|
rs772788648
|
0.00001
|
|
NM_000543.5(SMPD1):c.1128T>C (p.Gly376=)
|
rs745317640
|
0.00001
|
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
|
NM_000543.5(SMPD1):c.1194C>A (p.Ser398=)
|
rs967970847
|
0.00001
|
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
|
NM_000543.5(SMPD1):c.1263+10A>G
|
rs1237766501
|
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.1297T>C (p.Cys433Arg)
|
rs779528546
|
0.00001
|
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
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.1361C>A (p.Ala454Asp)
|
rs1402734026
|
0.00001
|
|
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)
|
rs1402734026
|
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.1476C>G (p.Gly492=)
|
rs1262156065
|
0.00001
|
|
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)
|
rs1554935371
|
0.00001
|
|
NM_000543.5(SMPD1):c.1494T>G (p.Arg498=)
|
rs1382113966
|
0.00001
|
|
NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys)
|
rs774651673
|
0.00001
|
|
NM_000543.5(SMPD1):c.1527C>T (p.Ser509=)
|
rs944330326
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
|
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=)
|
rs778746534
|
0.00001
|
|
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg)
|
rs776759986
|
0.00001
|
|
NM_000543.5(SMPD1):c.1653G>A (p.Leu551=)
|
rs377371222
|
0.00001
|
|
NM_000543.5(SMPD1):c.1659C>T (p.Thr553=)
|
rs746058509
|
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.1681C>T (p.Arg561Cys)
|
rs774190691
|
0.00001
|
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
|
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile)
|
rs757364674
|
0.00001
|
|
NM_000543.5(SMPD1):c.1725C>T (p.Leu575=)
|
rs780285591
|
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.1746C>T (p.Pro582=)
|
rs781756741
|
0.00001
|
|
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala)
|
rs748635475
|
0.00001
|
|
NM_000543.5(SMPD1):c.1782T>C (p.Thr594=)
|
rs200974033
|
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.1833C>G (p.His611Gln)
|
rs1397949984
|
0.00001
|
|
NM_000543.5(SMPD1):c.1836G>T (p.Leu612=)
|
rs1413475417
|
0.00001
|
|
NM_000543.5(SMPD1):c.1885C>T (p.Leu629=)
|
rs776370511
|
0.00001
|
|
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)
|
rs375224040
|
0.00001
|
|
NM_000543.5(SMPD1):c.229G>A (p.Val77Met)
|
rs560531338
|
0.00001
|
|
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)
|
rs201647015
|
0.00001
|
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
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.291A>G (p.Leu97=)
|
rs144428799
|
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.319-1G>A
|
rs1352986086
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-7A>T
|
rs757091200
|
0.00001
|
|
NM_000543.5(SMPD1):c.339C>T (p.Arg113=)
|
rs923028036
|
0.00001
|
|
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
|
NM_000543.5(SMPD1):c.393C>T (p.Ala131=)
|
rs778655099
|
0.00001
|
|
NM_000543.5(SMPD1):c.465A>G (p.Pro155=)
|
rs1163540840
|
0.00001
|
|
NM_000543.5(SMPD1):c.480C>A (p.Gly160=)
|
rs765073144
|
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.561C>T (p.Pro187=)
|
rs1020434151
|
0.00001
|
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
|
NM_000543.5(SMPD1):c.591T>C (p.Gly197=)
|
rs1328127205
|
0.00001
|
|
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys)
|
rs749595299
|
0.00001
|
|
NM_000543.5(SMPD1):c.606C>T (p.Arg202=)
|
rs779618003
|
0.00001
|
|
NM_000543.5(SMPD1):c.621T>C (p.Thr207=)
|
rs1198832119
|
0.00001
|
|
NM_000543.5(SMPD1):c.675C>T (p.Asp225=)
|
rs1030101180
|
0.00001
|
|
NM_000543.5(SMPD1):c.678A>G (p.Pro226=)
|
rs1261935541
|
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.692G>A (p.Arg231Gln)
|
rs746421946
|
0.00001
|
|
NM_000543.5(SMPD1):c.696T>C (p.Gly232=)
|
rs780602613
|
0.00001
|
|
NM_000543.5(SMPD1):c.711C>T (p.Pro237=)
|
rs1847926093
|
0.00001
|
|
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)
|
rs748936934
|
0.00001
|
|
NM_000543.5(SMPD1):c.720G>T (p.Arg240=)
|
rs879868810
|
0.00001
|
|
NM_000543.5(SMPD1):c.735C>T (p.Tyr245=)
|
rs760865854
|
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.753G>A (p.Lys251=)
|
rs374458858
|
0.00001
|
|
NM_000543.5(SMPD1):c.759C>T (p.Asp253=)
|
rs752000778
|
0.00001
|
|
NM_000543.5(SMPD1):c.75C>T (p.Ala25=)
|
rs1312090680
|
0.00001
|
|
NM_000543.5(SMPD1):c.780G>A (p.Glu260=)
|
rs770523185
|
0.00001
|
|
NM_000543.5(SMPD1):c.820A>G (p.Met274Val)
|
rs763437061
|
0.00001
|
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
|
NM_000543.5(SMPD1):c.84C>T (p.Pro28=)
|
rs577769499
|
0.00001
|
|
NM_000543.5(SMPD1):c.852T>C (p.His284=)
|
rs1847936690
|
0.00001
|
|
NM_000543.5(SMPD1):c.873T>C (p.Arg291=)
|
rs745502097
|
0.00001
|
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
|
NM_000543.5(SMPD1):c.90C>A (p.Leu30=)
|
rs748793138
|
0.00001
|
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
|
NM_000543.5(SMPD1):c.984C>T (p.Ser328=)
|
rs781339776
|
0.00001
|
|
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys)
|
rs886048446
|
0.00001
|
|
NM_000543.5(SMPD1):c.987C>T (p.Phe329=)
|
rs572772760
|
0.00001
|
|
NM_000543.5(SMPD1):c.999C>T (p.Phe333=)
|
rs774790917
|
0.00001
|
|
NM_006432.4(NPC2):c.-89G>A
|
rs574247323
|
0.00001
|
|
NM_006432.5(NPC2):c.*115C>T
|
rs780515697
|
0.00001
|
|
NM_006432.5(NPC2):c.115G>A (p.Val39Met)
|
rs80358261
|
0.00001
|
|
NM_006432.5(NPC2):c.129C>T (p.Pro43=)
|
rs760668431
|
0.00001
|
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
|
NM_006432.5(NPC2):c.150C>T (p.Ser50=)
|
rs2086712392
|
0.00001
|
|
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro)
|
rs767080399
|
0.00001
|
|
NM_006432.5(NPC2):c.183C>T (p.Phe61=)
|
rs768296377
|
0.00001
|
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
|
NM_006432.5(NPC2):c.190+6dup
|
rs770729278
|
0.00001
|
|
NM_006432.5(NPC2):c.191-10T>C
|
rs907643924
|
0.00001
|
|
NM_006432.5(NPC2):c.191-8T>C
|
rs1404077821
|
0.00001
|
|
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile)
|
rs1391222276
|
0.00001
|
|
NM_006432.5(NPC2):c.222G>A (p.Val74=)
|
rs763523833
|
0.00001
|
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
|
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
|
rs80358264
|
0.00001
|
|
NM_006432.5(NPC2):c.312C>T (p.Asp104=)
|
rs751455041
|
0.00001
|
|
NM_006432.5(NPC2):c.318C>G (p.Thr106=)
|
rs763613633
|
0.00001
|
|
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)
|
rs104894458
|
0.00001
|
|
NM_006432.5(NPC2):c.364-11T>C
|
rs751545027
|
0.00001
|
|
NM_006432.5(NPC2):c.364-13T>C
|
rs897207821
|
0.00001
|
|
NM_006432.5(NPC2):c.364-3C>T
|
rs927248655
|
0.00001
|
|
NM_006432.5(NPC2):c.370C>T (p.Leu124=)
|
rs757968557
|
0.00001
|
|
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu)
|
rs2086648005
|
0.00001
|
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
|
NM_006432.5(NPC2):c.429C>A (p.Ile143=)
|
rs528199992
|
0.00001
|
|
NM_006432.5(NPC2):c.441+9A>G
|
rs372464598
|
0.00001
|
|
NM_006432.5(NPC2):c.455A>G (p.Ter152=)
|
rs1162911732
|
0.00001
|
|
NM_006432.5(NPC2):c.63G>A (p.Pro21=)
|
rs1299194959
|
0.00001
|
|
NM_006432.5(NPC2):c.69G>A (p.Gln23=)
|
rs760160779
|
0.00001
|
|
NM_006432.5(NPC2):c.82+15C>G
|
rs1261259335
|
0.00001
|
|
NM_006432.5(NPC2):c.82+7C>T
|
rs771418765
|
0.00001
|
|
NM_006432.5(NPC2):c.82+9C>T
|
rs553819330
|
0.00001
|
|
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys)
|
rs753010998
|
0.00001
|
|
NC_000011.10:g.6390221_6390884del
|
|
|
|
NC_000011.9:g.(?_6404342)_(6413015_?)del
|
|
|
|
NC_000014.8:g.(?_74946967)_(74947492_?)del
|
|
|
|
NC_000014.8:g.(?_74951108)_(74953149_?)del
|
|
|
|
NC_000014.8:g.(?_74959886)_(74959987_?)del
|
|
|
|
NC_000014.9:g.(?_74480254)_(74486456_?)del
|
|
|
|
NC_000014.9:g.(?_74480264)_(74493284_?)del
|
|
|
|
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
|
|
|
|
NC_000018.10:g.23544943_23544944insACC
|
|
|
|
NC_000018.10:g.23544944_23544945insACC
|
|
|
|
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
|
|
|
|
NC_000018.9:g.(?_18963480)_(21534612_?)dup
|
|
|
|
NC_000018.9:g.(?_21112146)_(21166327_?)dup
|
|
|
|
NC_000018.9:g.(?_21112166)_(21153558_?)dup
|
|
|
|
NC_000018.9:g.(?_21137061)_(21166307_?)dup
|
|
|
|
NC_000018.9:g.(?_21166241)_(21166317_?)del
|
|
|
|
NC_000018.9:g.21124907_21124908insCACC
|
|
|
|
NC_000018.9:g.21124907_21124908insCACCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCACC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCCCG
|
rs1555634622
|
|
|
NC_000018.9:g.21124907_21124908insCCCG
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCGC
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCGCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCCT
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCTC
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCTCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCGC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCGCC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCT
|
|
|
|
NC_000018.9:g.21124907_21124908insCCTC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCTCC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCGC
|
|
|
|
NC_000018.9:g.21124907_21124908insCTCC
|
rs1555634621
|
|
|
NC_000018.9:g.21124907_21124908insCTCCC
|
|
|
|
NM_000271.4(NPC1):c.1947+16_1947+17insCGG
|
rs55809701
|
|
|
NM_000271.4(NPC1):c.2134_2135del
|
|
|
|
NM_000271.4(NPC1):c.3249_3250del
|
|
|
|
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
|
|
|
|
NM_000271.5(NPC1):c.*109T>G
|
rs188980155
|
|
|
NM_000271.5(NPC1):c.*129T>G
|
rs2058528928
|
|
|
NM_000271.5(NPC1):c.*161C>T
|
rs2058527793
|
|
|
NM_000271.5(NPC1):c.*327C>T
|
rs2058522612
|
|
|
NM_000271.5(NPC1):c.*328A>C
|
rs1326365719
|
|
|
NM_000271.5(NPC1):c.*334T>A
|
rs886053664
|
|
|
NM_000271.5(NPC1):c.*349G>A
|
rs886053663
|
|
|
NM_000271.5(NPC1):c.*485dup
|
rs757215027
|
|
|
NM_000271.5(NPC1):c.*500A>G
|
rs886053662
|
|
|
NM_000271.5(NPC1):c.-116C>G
|
rs574376933
|
|
|
NM_000271.5(NPC1):c.-135C>T
|
rs886053669
|
|
|
NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp)
|
|
|
|
NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)
|
|
|
|
NM_000271.5(NPC1):c.1014G>C (p.Leu338=)
|
|
|
|
NM_000271.5(NPC1):c.1019C>G (p.Thr340Arg)
|
|
|
|
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs)
|
rs1555637255
|
|
|
NM_000271.5(NPC1):c.1021C>T (p.Arg341Cys)
|
|
|
|
NM_000271.5(NPC1):c.1022G>C (p.Arg341Pro)
|
rs370181667
|
|
|
NM_000271.5(NPC1):c.1023C>A (p.Arg341=)
|
rs2145458093
|
|
|
NM_000271.5(NPC1):c.1024T>C (p.Trp342Arg)
|
rs2145458077
|
|
|
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
|
|
|
|
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu)
|
rs1444308532
|
|
|
NM_000271.5(NPC1):c.1029G>A (p.Gly343=)
|
rs2145458023
|
|
|
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
|
|
|
|
NM_000271.5(NPC1):c.102A>C (p.Ala34=)
|
|
|
|
NM_000271.5(NPC1):c.102A>G (p.Ala34=)
|
|
|
|
NM_000271.5(NPC1):c.1030del (p.Ser344fs)
|
rs483352883
|
|
|
NM_000271.5(NPC1):c.1032T>A (p.Ser344=)
|
rs2145457977
|
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
|
NM_000271.5(NPC1):c.1034T>C (p.Phe345Ser)
|
rs1303376855
|
|
|
NM_000271.5(NPC1):c.1034del (p.Phe345fs)
|
rs1057516950
|
|
|
NM_000271.5(NPC1):c.1041C>T (p.Val347=)
|
rs2058954302
|
|
|
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)
|
rs1474434210
|
|
|
NM_000271.5(NPC1):c.1043G>A (p.Arg348Gln)
|
|
|
|
NM_000271.5(NPC1):c.104A>T (p.Tyr35Phe)
|
|
|
|
NM_000271.5(NPC1):c.1053C>G (p.Gly351=)
|
|
|
|
NM_000271.5(NPC1):c.1059C>T (p.Val353=)
|
|
|
|
NM_000271.5(NPC1):c.1069T>G (p.Ser357Ala)
|
|
|
|
NM_000271.5(NPC1):c.106G>A (p.Gly36Arg)
|
rs2059232891
|
|
|
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)
|
rs1555637232
|
|
|
NM_000271.5(NPC1):c.1074G>C (p.Leu358=)
|
rs2145457569
|
|
|
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
|
|
|
|
NM_000271.5(NPC1):c.1089G>A (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.108G>A (p.Gly36=)
|
rs2145552145
|
|
|
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)
|
rs2058953311
|
|
|
NM_000271.5(NPC1):c.1092T>C (p.Cys364=)
|
rs2058953311
|
|
|
NM_000271.5(NPC1):c.1094C>T (p.Ser365Leu)
|
|
|
|
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)
|
rs1278305591
|
|
|
NM_000271.5(NPC1):c.1098A>C (p.Ser366=)
|
rs1006770318
|
|
|
NM_000271.5(NPC1):c.1101C>G (p.Gly367=)
|
|
|
|
NM_000271.5(NPC1):c.1102C>T (p.Leu368=)
|
rs2145457233
|
|
|
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
|
|
|
|
NM_000271.5(NPC1):c.1103T>C (p.Leu368Pro)
|
|
|
|
NM_000271.5(NPC1):c.1104G>C (p.Leu368=)
|
|
|
|
NM_000271.5(NPC1):c.1107G>A (p.Val369=)
|
rs2058952906
|
|
|
NM_000271.5(NPC1):c.1110T>C (p.Phe370=)
|
|
|
|
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
|
|
|
|
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs)
|
rs2145457097
|
|
|
NM_000271.5(NPC1):c.1116G>A (p.Arg372=)
|
rs947484362
|
|
|
NM_000271.5(NPC1):c.1122A>G (p.Thr374=)
|
|
|
|
NM_000271.5(NPC1):c.1126A>G (p.Asn376Asp)
|
|
|
|
NM_000271.5(NPC1):c.1129C>T (p.Pro377Ser)
|
|
|
|
NM_000271.5(NPC1):c.1131A>C (p.Pro377=)
|
|
|
|
NM_000271.5(NPC1):c.1131A>G (p.Pro377=)
|
rs1164106395
|
|
|
NM_000271.5(NPC1):c.1131A>T (p.Pro377=)
|
rs1164106395
|
|
|
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.1149C>T (p.Ala383=)
|
|
|
|
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)
|
rs1599011473
|
|
|
NM_000271.5(NPC1):c.1152C>G (p.Pro384=)
|
rs2145456691
|
|
|
NM_000271.5(NPC1):c.1152dup (p.Ser385fs)
|
rs2145456711
|
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
|
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro)
|
rs1555637157
|
|
|
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)
|
rs373751051
|
|
|
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)
|
rs1555637139
|
|
|
NM_000271.5(NPC1):c.1172A>C (p.Glu391Ala)
|
|
|
|
NM_000271.5(NPC1):c.1173A>G (p.Glu391=)
|
|
|
|
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
|
|
|
|
NM_000271.5(NPC1):c.1179G>A (p.Glu393=)
|
rs748026338
|
|
|
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
|
|
|
|
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
|
|
|
|
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
|
|
|
|
NM_000271.5(NPC1):c.1190A>G (p.Gln397Arg)
|
|
|
|
NM_000271.5(NPC1):c.1191G>A (p.Gln397=)
|
rs374959321
|
|
|
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
|
|
|
|
NM_000271.5(NPC1):c.1203T>A (p.Pro401=)
|
rs2145456286
|
|
|
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
|
|
|
|
NM_000271.5(NPC1):c.1208T>C (p.Phe403Ser)
|
|
|
|
NM_000271.5(NPC1):c.120C>T (p.Tyr40=)
|
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
|
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)
|
rs1567965313
|
|
|
NM_000271.5(NPC1):c.1224C>G (p.Leu408=)
|
rs759901793
|
|
|
NM_000271.5(NPC1):c.1224C>T (p.Leu408=)
|
rs759901793
|
|
|
NM_000271.5(NPC1):c.1231C>T (p.Arg411Trp)
|
|
|
|
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
|
|
|
|
NM_000271.5(NPC1):c.1247A>G (p.Asp416Gly)
|
|
|
|
NM_000271.5(NPC1):c.1248C>G (p.Asp416Glu)
|
rs2145455839
|
|
|
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs)
|
rs2058949697
|
|
|
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
|
|
|
|
NM_000271.5(NPC1):c.1254C>T (p.His418=)
|
|
|
|
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)
|
rs2058949363
|
|
|
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)
|
rs2058949363
|
|
|
NM_000271.5(NPC1):c.1266A>G (p.Pro422=)
|
|
|
|
NM_000271.5(NPC1):c.1268A>G (p.Tyr423Cys)
|
|
|
|
NM_000271.5(NPC1):c.1280C>G (p.Ala427Gly)
|
|
|
|
NM_000271.5(NPC1):c.1281T>G (p.Ala427=)
|
|
|
|
NM_000271.5(NPC1):c.1284T>C (p.Asp428=)
|
rs942924284
|
|
|
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
|
|
|
|
NM_000271.5(NPC1):c.1287A>C (p.Val429=)
|
rs2058948954
|
|
|
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg)
|
rs2145455455
|
|
|
NM_000271.5(NPC1):c.1290C>T (p.Pro430=)
|
|
|
|
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
|
|
|
|
NM_000271.5(NPC1):c.1293T>C (p.Phe431=)
|
rs1291913090
|
|
|
NM_000271.5(NPC1):c.1293del (p.Phe431fs)
|
rs2145455429
|
|
|
NM_000271.5(NPC1):c.1296A>T (p.Gly432=)
|
rs2145455403
|
|
|
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
|
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg)
|
rs774333145
|
|
|
NM_000271.5(NPC1):c.1304T>C (p.Leu435Pro)
|
|
|
|
NM_000271.5(NPC1):c.1306G>A (p.Asp436Asn)
|
rs1294804263
|
|
|
NM_000271.5(NPC1):c.1309A>G (p.Ile437Val)
|
rs2145455256
|
|
|
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
|
|
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
|
NM_000271.5(NPC1):c.1318C>T (p.Leu440=)
|
rs1390796169
|
|
|
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
|
rs764171713
|
|
|
NM_000271.5(NPC1):c.1323C>T (p.His441=)
|
rs2145455070
|
|
|
NM_000271.5(NPC1):c.1326+14T>G
|
|
|
|
NM_000271.5(NPC1):c.1326+15G>A
|
|
|
|
NM_000271.5(NPC1):c.1327-10C>A
|
|
|
|
NM_000271.5(NPC1):c.1327-12dup
|
|
|
|
NM_000271.5(NPC1):c.1327-15A>G
|
|
|
|
NM_000271.5(NPC1):c.1327-16dup
|
|
|
|
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.1327-4T>C
|
|
|
|
NM_000271.5(NPC1):c.1327-7C>G
|
rs2145448562
|
|
|
NM_000271.5(NPC1):c.132T>C (p.Tyr44=)
|
rs778757273
|
|
|
NM_000271.5(NPC1):c.1333G>T (p.Asp445Tyr)
|
rs2145448490
|
|
|
NM_000271.5(NPC1):c.1335C>T (p.Asp445=)
|
|
|
|
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.1346C>T (p.Ala449Val)
|
|
|
|
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
|
|
|
|
NM_000271.5(NPC1):c.1350C>A (p.Ile450=)
|
rs368945671
|
|
|
NM_000271.5(NPC1):c.1359T>C (p.Ile453=)
|
|
|
|
NM_000271.5(NPC1):c.1361C>T (p.Thr454Ile)
|
|
|
|
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
|
|
|
|
NM_000271.5(NPC1):c.1365C>T (p.Ala455=)
|
|
|
|
NM_000271.5(NPC1):c.1367C>T (p.Ser456Phe)
|
rs374159264
|
|
|
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer)
|
rs2058928573
|
|
|
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
|
|
|
|
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_000271.5(NPC1):c.1377T>C (p.Asn459=)
|
|
|
|
NM_000271.5(NPC1):c.137G>A (p.Gly46Asp)
|
rs1425737401
|
|
|
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
|
rs2058928378
|
|
|
NM_000271.5(NPC1):c.1392T>G (p.Leu464=)
|
rs2145448105
|
|
|
NM_000271.5(NPC1):c.1395A>G (p.Gln465=)
|
|
|
|
NM_000271.5(NPC1):c.1398C>T (p.Asp466=)
|
|
|
|
NM_000271.5(NPC1):c.1401C>T (p.Ile467=)
|
rs2058928240
|
|
|
NM_000271.5(NPC1):c.1405T>C (p.Leu469=)
|
rs530310492
|
|
|
NM_000271.5(NPC1):c.1407G>A (p.Leu469=)
|
|
|
|
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
|
|
|
|
NM_000271.5(NPC1):c.1410C>A (p.Ala470=)
|
|
|
|
NM_000271.5(NPC1):c.1410C>T (p.Ala470=)
|
|
|
|
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
|
rs2058927956
|
|
|
NM_000271.5(NPC1):c.1413T>C (p.Pro471=)
|
|
|
|
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro)
|
rs2145447843
|
|
|
NM_000271.5(NPC1):c.1417dup (p.Ser473fs)
|
rs2145447827
|
|
|
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
|
|
|
|
NM_000271.5(NPC1):c.1419A>G (p.Ser473=)
|
|
|
|
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
|
|
|
|
NM_000271.5(NPC1):c.1424A>G (p.Tyr475Cys)
|
|
|
|
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)
|
rs2145447716
|
|
|
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs)
|
rs2145447627
|
|
|
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
|
|
|
|
NM_000271.5(NPC1):c.1437C>T (p.Cys479=)
|
|
|
|
NM_000271.5(NPC1):c.1443T>C (p.Ile481=)
|
|
|
|
NM_000271.5(NPC1):c.1444T>C (p.Leu482=)
|
rs1009526664
|
|
|
NM_000271.5(NPC1):c.144A>G (p.Pro48=)
|
rs1420450833
|
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
|
NM_000271.5(NPC1):c.1451del (p.Val484fs)
|
|
|
|
NM_000271.5(NPC1):c.1453T>G (p.Leu485Val)
|
|
|
|
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
|
|
|
|
NM_000271.5(NPC1):c.1470C>T (p.Asn490=)
|
rs2145447446
|
|
|
NM_000271.5(NPC1):c.1473C>T (p.Ser491=)
|
|
|
|
NM_000271.5(NPC1):c.1475A>G (p.His492Arg)
|
|
|
|
NM_000271.5(NPC1):c.1482G>C (p.Val494=)
|
|
|
|
NM_000271.5(NPC1):c.1482G>T (p.Val494=)
|
|
|
|
NM_000271.5(NPC1):c.1483C>G (p.Leu495Val)
|
rs1598973224
|
|
|
NM_000271.5(NPC1):c.1488C>T (p.Asp496=)
|
|
|
|
NM_000271.5(NPC1):c.1490A>G (p.His497Arg)
|
rs2145447292
|
|
|
NM_000271.5(NPC1):c.1491C>T (p.His497=)
|
|
|
|
NM_000271.5(NPC1):c.1495A>G (p.Lys499Glu)
|
rs2145447268
|
|
|
NM_000271.5(NPC1):c.1497dup (p.Gly500fs)
|
rs2058926540
|
|
|
NM_000271.5(NPC1):c.149C>T (p.Pro50Leu)
|
|
|
|
NM_000271.5(NPC1):c.1500G>C (p.Gly500=)
|
|
|
|
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
|
|
|
|
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)
|
rs483352885
|
|
|
NM_000271.5(NPC1):c.1506CTT[1] (p.Phe504del)
|
rs1555636605
|
|
|
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
|
|
|
|
NM_000271.5(NPC1):c.1518T>C (p.Tyr506=)
|
rs2145447075
|
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
|
NM_000271.5(NPC1):c.1522G>A (p.Asp508Asn)
|
|
|
|
NM_000271.5(NPC1):c.1524T>C (p.Asp508=)
|
|
|
|
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.1533G>C (p.Thr511=)
|
rs778890495
|
|
|
NM_000271.5(NPC1):c.1533G>T (p.Thr511=)
|
rs778890495
|
|
|
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
|
|
|
|
NM_000271.5(NPC1):c.1535A>G (p.His512Arg)
|
rs1567963883
|
|
|
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
|
rs763680535
|
|
|
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)
|
rs201791992
|
|
|
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)
|
rs2145446753
|
|
|
NM_000271.5(NPC1):c.1553+17A>G
|
|
|
|
NM_000271.5(NPC1):c.1553+18A>T
|
|
|
|
NM_000271.5(NPC1):c.1553+7G>A
|
rs2145446691
|
|
|
NM_000271.5(NPC1):c.1553+9C>G
|
rs2145446678
|
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
|
NM_000271.5(NPC1):c.1554-1009G>T
|
|
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
|
NM_000271.5(NPC1):c.1554-14A>G
|
|
|
|
NM_000271.5(NPC1):c.1554-15del
|
|
|
|
NM_000271.5(NPC1):c.1554-18T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-19T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-4G>A
|
|
|
|
NM_000271.5(NPC1):c.1554-7T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-7T>G
|
rs559970885
|
|
|
NM_000271.5(NPC1):c.1554-9T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-9T>G
|
rs2145433762
|
|
|
NM_000271.5(NPC1):c.1557T>C (p.Ala519=)
|
rs546384677
|
|
|
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
|
|
|
|
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr)
|
rs138184115
|
|
|
NM_000271.5(NPC1):c.1569G>T (p.Leu523=)
|
rs1376770067
|
|
|
NM_000271.5(NPC1):c.1575T>C (p.Asp525=)
|
|
|
|
NM_000271.5(NPC1):c.1580G>A (p.Ser527Asn)
|
|
|
|
NM_000271.5(NPC1):c.1590T>C (p.His530=)
|
|
|
|
NM_000271.5(NPC1):c.1596T>C (p.Pro532=)
|
rs1567961433
|
|
|
NM_000271.5(NPC1):c.1596T>G (p.Pro532=)
|
rs1567961433
|
|
|
NM_000271.5(NPC1):c.1599T>C (p.Cys533=)
|
|
|
|
NM_000271.5(NPC1):c.15C>T (p.Gly5=)
|
|
|
|
NM_000271.5(NPC1):c.1607C>T (p.Thr536Met)
|
|
|
|
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser)
|
rs747310316
|
|
|
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)
|
rs2145433298
|
|
|
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
|
|
|
|
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
|
|
|
|
NM_000271.5(NPC1):c.1617A>C (p.Gly539=)
|
|
|
|
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
|
|
|
|
NM_000271.5(NPC1):c.1620A>C (p.Pro540=)
|
|
|
|
NM_000271.5(NPC1):c.1621G>A (p.Val541Met)
|
rs2058874338
|
|
|
NM_000271.5(NPC1):c.1626C>T (p.Phe542=)
|
rs2145433201
|
|
|
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)
|
rs2145433190
|
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
|
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
|
|
|
|
NM_000271.5(NPC1):c.1638G>A (p.Val546=)
|
rs2145433093
|
|
|
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
|
|
|
|
NM_000271.5(NPC1):c.1653T>C (p.Asp551=)
|
|
|
|
NM_000271.5(NPC1):c.1654+15C>G
|
rs753138623
|
|
|
NM_000271.5(NPC1):c.1654+15C>T
|
|
|
|
NM_000271.5(NPC1):c.1654+1G>A
|
rs2145433024
|
|
|
NM_000271.5(NPC1):c.1654+1dup
|
|
|
|
NM_000271.5(NPC1):c.1654+20A>G
|
|
|
|
NM_000271.5(NPC1):c.1654+9G>C
|
|
|
|
NM_000271.5(NPC1):c.1654G>T (p.Asp552Tyr)
|
rs2145433031
|
|
|
NM_000271.5(NPC1):c.1655-10T>C
|
rs771040873
|
|
|
NM_000271.5(NPC1):c.1655-16C>T
|
|
|
|
NM_000271.5(NPC1):c.1655-4C>T
|
|
|
|
NM_000271.5(NPC1):c.1655-7T>C
|
|
|
|
NM_000271.5(NPC1):c.165A>C (p.Gly55=)
|
|
|
|
NM_000271.5(NPC1):c.1662C>T (p.Asn554=)
|
rs778002425
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
|
NM_000271.5(NPC1):c.1674C>A (p.Ala558=)
|
|
|
|
NM_000271.5(NPC1):c.1683T>G (p.Leu561=)
|
|
|
|
NM_000271.5(NPC1):c.1684G>A (p.Val562Met)
|
rs1476758898
|
|
|
NM_000271.5(NPC1):c.1686G>A (p.Val562=)
|
rs1555635272
|
|
|
NM_000271.5(NPC1):c.1686G>C (p.Val562=)
|
|
|
|
NM_000271.5(NPC1):c.169G>A (p.Asp57Asn)
|
|
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
|
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp)
|
rs2058813808
|
|
|
NM_000271.5(NPC1):c.1722A>G (p.Thr574=)
|
|
|
|
NM_000271.5(NPC1):c.1728G>A (p.Lys576=)
|
rs1218395394
|
|
|
NM_000271.5(NPC1):c.1731C>G (p.Leu577=)
|
|
|
|
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
|
|
|
|
NM_000271.5(NPC1):c.1734G>A (p.Gln578=)
|
rs2145417067
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
|
NM_000271.5(NPC1):c.1743G>A (p.Gln581=)
|
rs1234473868
|
|
|
NM_000271.5(NPC1):c.1745C>A (p.Ala582Asp)
|
|
|
|
NM_000271.5(NPC1):c.1746C>G (p.Ala582=)
|
|
|
|
NM_000271.5(NPC1):c.1746C>T (p.Ala582=)
|
rs2145417026
|
|
|
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
|
|
|
|
NM_000271.5(NPC1):c.1752A>G (p.Glu584=)
|
rs2145416997
|
|
|
NM_000271.5(NPC1):c.1757+10T>C
|
rs1799289518
|
|
|
NM_000271.5(NPC1):c.1757+12A>G
|
|
|
|
NM_000271.5(NPC1):c.1757+13T>A
|
|
|
|
NM_000271.5(NPC1):c.1757+14G>A
|
|
|
|
NM_000271.5(NPC1):c.1757+19T>C
|
|
|
|
NM_000271.5(NPC1):c.1757+19dup
|
|
|
|
NM_000271.5(NPC1):c.1757+1G>A
|
|
|
|
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+3G>T
|
|
|
|
NM_000271.5(NPC1):c.1757+7dup
|
rs1393257139
|
|
|
NM_000271.5(NPC1):c.1757+8A>G
|
|
|
|
NM_000271.5(NPC1):c.1757+8A>T
|
|
|
|
NM_000271.5(NPC1):c.1757+9C>T
|
rs2145416919
|
|
|
NM_000271.5(NPC1):c.1757_1757+1del
|
|
|
|
NM_000271.5(NPC1):c.1758-14_1758-13dup
|
|
|
|
NM_000271.5(NPC1):c.1758-17T>G
|
|
|
|
NM_000271.5(NPC1):c.1758-3_1761del
|
|
|
|
NM_000271.5(NPC1):c.1758-8C>T
|
|
|
|
NM_000271.5(NPC1):c.175G>A (p.Val59Met)
|
|
|
|
NM_000271.5(NPC1):c.175G>T (p.Val59Leu)
|
rs1365313736
|
|
|
NM_000271.5(NPC1):c.1761del (p.Phe587fs)
|
rs1057517197
|
|
|
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
|
|
|
|
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
|
|
|
|
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
|
|
|
|
NM_000271.5(NPC1):c.1782C>T (p.Tyr594=)
|
rs2145406178
|
|
|
NM_000271.5(NPC1):c.1783A>G (p.Lys595Glu)
|
rs2145406160
|
|
|
NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr)
|
|
|
|
NM_000271.5(NPC1):c.1788T>C (p.Asn596=)
|
rs2145406115
|
|
|
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
|
|
|
|
NM_000271.5(NPC1):c.1794T>C (p.Asn598=)
|
|
|
|
NM_000271.5(NPC1):c.180+11T>C
|
|
|
|
NM_000271.5(NPC1):c.180+13T>A
|
|
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
|
NM_000271.5(NPC1):c.180+17A>G
|
|
|
|
NM_000271.5(NPC1):c.180+19G>A
|
|
|
|
NM_000271.5(NPC1):c.180+19G>T
|
|
|
|
NM_000271.5(NPC1):c.180+1G>C
|
rs2059231880
|
|
|
NM_000271.5(NPC1):c.180+1G>T
|
|
|
|
NM_000271.5(NPC1):c.180+20C>T
|
|
|
|
NM_000271.5(NPC1):c.180+7T>C
|
|
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
|
NM_000271.5(NPC1):c.180+9A>G
|
rs201021412
|
|
|
NM_000271.5(NPC1):c.1800C>T (p.Thr600=)
|
|
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
|
NM_000271.5(NPC1):c.1804T>C (p.Ser602Pro)
|
|
|
|
NM_000271.5(NPC1):c.181-10C>A
|
|
|
|
NM_000271.5(NPC1):c.181-10C>T
|
rs2145545058
|
|
|
NM_000271.5(NPC1):c.181-17G>C
|
|
|
|
NM_000271.5(NPC1):c.181-19G>A
|
|
|
|
NM_000271.5(NPC1):c.181-4A>G
|
|
|
|
NM_000271.5(NPC1):c.181-7C>T
|
rs2145545045
|
|
|
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.1820G>A (p.Arg607Gln)
|
|
|
|
NM_000271.5(NPC1):c.1830A>G (p.Glu610=)
|
|
|
|
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.1839A>G (p.Leu613=)
|
|
|
|
NM_000271.5(NPC1):c.1842T>C (p.Asn614=)
|
rs1373458567
|
|
|
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.1844del (p.Arg615fs)
|
rs1257362365
|
|
|
NM_000271.5(NPC1):c.1849dup (p.Ser617fs)
|
rs2058769608
|
|
|
NM_000271.5(NPC1):c.1856G>A (p.Ser619Asn)
|
rs992289027
|
|
|
NM_000271.5(NPC1):c.1863C>T (p.Val621=)
|
|
|
|
NM_000271.5(NPC1):c.1866C>T (p.Phe622=)
|
|
|
|
NM_000271.5(NPC1):c.1869C>G (p.Thr623=)
|
|
|
|
NM_000271.5(NPC1):c.1870G>C (p.Val624Leu)
|
|
|
|
NM_000271.5(NPC1):c.1872T>C (p.Val624=)
|
rs2145405450
|
|
|
NM_000271.5(NPC1):c.1878T>C (p.Ile626=)
|
|
|
|
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
|
|
|
|
NM_000271.5(NPC1):c.1887C>T (p.Ala629=)
|
|
|
|
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)
|
rs2145544950
|
|
|
NM_000271.5(NPC1):c.1899A>G (p.Leu633=)
|
rs1195898144
|
|
|
NM_000271.5(NPC1):c.189T>C (p.Cys63=)
|
|
|
|
NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)
|
|
|
|
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.1908C>T (p.Ser636=)
|
rs2058768340
|
|
|
NM_000271.5(NPC1):c.1914C>A (p.Ala638=)
|
rs2145405175
|
|
|
NM_000271.5(NPC1):c.1915T>C (p.Leu639=)
|
rs2145405166
|
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
|
NM_000271.5(NPC1):c.1920G>A (p.Gly640=)
|
|
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
|
NM_000271.5(NPC1):c.1925T>C (p.Met642Thr)
|
rs1342552552
|
|
|
NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)
|
|
|
|
NM_000271.5(NPC1):c.192A>G (p.Pro64=)
|
rs2145544921
|
|
|
NM_000271.5(NPC1):c.1941G>A (p.Arg647=)
|
rs1333052052
|
|
|
NM_000271.5(NPC1):c.1941G>C (p.Arg647Ser)
|
|
|
|
NM_000271.5(NPC1):c.1943T>C (p.Leu648Pro)
|
|
|
|
NM_000271.5(NPC1):c.1945C>T (p.Leu649=)
|
|
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insC
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGAG
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCG
|
rs778092499
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCGG
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGT
|
rs778092499
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGTG
|
rs778092499
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGT
|
rs1555634676
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insT
|
rs1555634677
|
|
|
NM_000271.5(NPC1):c.1947+11G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+11G>C
|
rs747957171
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insA
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insC
|
rs2058765443
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGA
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGA
|
rs1555634668
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGC
|
rs1555634668
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGA
|
rs1555634669
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGAG
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGT
|
rs1555634669
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGTG
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT
|
rs1555634668
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGT
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGT
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insT
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+16dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+12G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insA
|
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insC
|
rs1555634657
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGA
|
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGC
|
rs1555634659
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGA
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGC
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGA
|
rs1555634656
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGC
|
rs1555634656
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGA
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGT
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT
|
rs1555634656
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGT
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGT
|
rs1555634659
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insT
|
|
|
|
NM_000271.5(NPC1):c.1947+13G>A
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+13G>C
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insA
|
rs1555634643
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insC
|
rs1555634643
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGC
|
rs771098370
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGA
|
rs1555634644
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGC
|
rs1555634644
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGA
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGC
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGA
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGC
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGT
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGT
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGT
|
rs771098370
|
|
|
NM_000271.5(NPC1):c.1947+14G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+14G>C
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGA
|
rs1555634633
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGC
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGC
|
rs1555634634
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGC
|
rs1555634632
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGT
|
rs1555634632
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGT
|
rs1555634634
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGT
|
rs1555634633
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insT
|
|
|
|
NM_000271.5(NPC1):c.1947+15G>C
|
rs1238986430
|
|
|
NM_000271.5(NPC1):c.1947+15G>T
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGA
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGC
|
rs72283949
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGA
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGC
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGC
|
rs1555634625
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGC
|
rs1555634623
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGC
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGT
|
rs1555634625
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGT
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGT
|
rs72283949
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGTT
|
rs72283949
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+19dup
|
rs1555634596
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGA
|
rs1555634621
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGC
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGC
|
rs55809701
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGT
|
rs1555634620
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGT
|
rs55809701
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+19dup
|
rs1555634597
|
|
|
NM_000271.5(NPC1):c.1947+16del
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+17T>C
|
|
|
|
NM_000271.5(NPC1):c.1947+17_1947+18dup
|
|
|
|
NM_000271.5(NPC1):c.1947+17del
|
|
|
|
NM_000271.5(NPC1):c.1947+18_1947+19dup
|
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGGG
|
rs770879191
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+19dup
|
|
|
|
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.1947+6_1947+7del
|
rs2058767020
|
|
|
NM_000271.5(NPC1):c.1947+6dup
|
rs1555634619
|
|
|
NM_000271.5(NPC1):c.1947+7C>G
|
rs56394541
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+12dup
|
rs1555634660
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+13dup
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insA
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insAGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCAGG
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGCGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGAG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCGG
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insT
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insTGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+8G>A
|
rs66620415
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+12dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insC
|
rs768629263
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGAGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGTGG
|
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGTGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insA
|
rs1555634683
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGC
|
rs1555634684
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGA
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insT
|
rs1555634683
|
|
|
NM_000271.5(NPC1):c.1948-11G>C
|
|
|
|
NM_000271.5(NPC1):c.1948-20G>T
|
|
|
|
NM_000271.5(NPC1):c.1948-2A>T
|
rs1555634513
|
|
|
NM_000271.5(NPC1):c.1948-4T>A
|
rs2145400860
|
|
|
NM_000271.5(NPC1):c.1948-8T>C
|
|
|
|
NM_000271.5(NPC1):c.1955C>T (p.Ser652Leu)
|
|
|
|
NM_000271.5(NPC1):c.1956G>T (p.Ser652=)
|
rs759777593
|
|
|
NM_000271.5(NPC1):c.1965A>G (p.Ser655=)
|
rs754438938
|
|
|
NM_000271.5(NPC1):c.1965A>T (p.Ser655=)
|
rs754438938
|
|
|
NM_000271.5(NPC1):c.1971C>G (p.Gly657=)
|
|
|
|
NM_000271.5(NPC1):c.1972A>G (p.Ile658Val)
|
|
|
|
NM_000271.5(NPC1):c.1975G>A (p.Ala659Thr)
|
|
|
|
NM_000271.5(NPC1):c.1977G>A (p.Ala659=)
|
rs773827934
|
|
|
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser)
|
rs1555634490
|
|
|
NM_000271.5(NPC1):c.1980C>T (p.Gly660=)
|
|
|
|
NM_000271.5(NPC1):c.1984T>A (p.Leu662Met)
|
|
|
|
NM_000271.5(NPC1):c.1989C>T (p.Ile663=)
|
rs550696790
|
|
|
NM_000271.5(NPC1):c.198C>A (p.Phe66Leu)
|
|
|
|
NM_000271.5(NPC1):c.198C>T (p.Phe66=)
|
rs1464483708
|
|
|
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)
|
rs1555641909
|
|
|
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)
|
rs376213990
|
|
|
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
|
|
|
|
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
|
|
|
|
NM_000271.5(NPC1):c.1A>G (p.Met1Val)
|
rs1057517005
|
|
|
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)
|
rs2058756032
|
|
|
NM_000271.5(NPC1):c.2001G>T (p.Ser667=)
|
rs762100560
|
|
|
NM_000271.5(NPC1):c.2004G>T (p.Val668=)
|
|
|
|
NM_000271.5(NPC1):c.2010C>T (p.Cys670=)
|
rs2058755824
|
|
|
NM_000271.5(NPC1):c.2013C>T (p.Ser671=)
|
rs1017732790
|
|
|
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val)
|
rs1555634452
|
|
|
NM_000271.5(NPC1):c.201C>T (p.Phe67=)
|
|
|
|
NM_000271.5(NPC1):c.2027G>C (p.Ser676Thr)
|
rs2145400163
|
|
|
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
|
|
|
|
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
|
|
|
|
NM_000271.5(NPC1):c.2037G>C (p.Gly679=)
|
rs923334902
|
|
|
NM_000271.5(NPC1):c.2039dup (p.Leu680fs)
|
rs2145400078
|
|
|
NM_000271.5(NPC1):c.2043C>G (p.Pro681=)
|
rs754244869
|
|
|
NM_000271.5(NPC1):c.2044T>A (p.Leu682Met)
|
|
|
|
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2046G>A (p.Leu682=)
|
rs1598954616
|
|
|
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2052C>T (p.Leu684=)
|
rs2145399941
|
|
|
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
|
|
|
|
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
|
rs1310067072
|
|
|
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)
|
rs483352888
|
|
|
NM_000271.5(NPC1):c.2059A>G (p.Ile687Val)
|
rs2058754612
|
|
|
NM_000271.5(NPC1):c.2061T>C (p.Ile687=)
|
|
|
|
NM_000271.5(NPC1):c.2064A>G (p.Glu688=)
|
|
|
|
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)
|
rs2058754429
|
|
|
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.2077del (p.Leu693fs)
|
|
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
|
NM_000271.5(NPC1):c.2083C>T (p.Leu695=)
|
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
|
NM_000271.5(NPC1):c.208A>T (p.Asn70Tyr)
|
rs2145544807
|
|
|
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala)
|
rs886053665
|
|
|
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)
|
rs2058754064
|
|
|
NM_000271.5(NPC1):c.2094A>G (p.Gly698=)
|
rs1598954463
|
|
|
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
|
|
|
|
NM_000271.5(NPC1):c.2096del (p.Val699fs)
|
rs1598954455
|
|
|
NM_000271.5(NPC1):c.2102_2103inv (p.Asn701Ser)
|
|
|
|
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)
|
rs2058753693
|
|
|
NM_000271.5(NPC1):c.2115G>A (p.Leu705=)
|
|
|
|
NM_000271.5(NPC1):c.2117T>C (p.Val706Ala)
|
|
|
|
NM_000271.5(NPC1):c.2124C>T (p.Ala708=)
|
|
|
|
NM_000271.5(NPC1):c.2126A>C (p.Tyr709Ser)
|
|
|
|
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
|
|
|
|
NM_000271.5(NPC1):c.2127C>T (p.Tyr709=)
|
|
|
|
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+10C>A
|
rs776389852
|
|
|
NM_000271.5(NPC1):c.2130+11A>G
|
|
|
|
NM_000271.5(NPC1):c.2130+16C>G
|
|
|
|
NM_000271.5(NPC1):c.2130+18C>T
|
|
|
|
NM_000271.5(NPC1):c.2130+1G>A
|
rs2058753286
|
|
|
NM_000271.5(NPC1):c.2130+1G>C
|
|
|
|
NM_000271.5(NPC1):c.2130+20C>A
|
|
|
|
NM_000271.5(NPC1):c.2130+5A>G
|
|
|
|
NM_000271.5(NPC1):c.2131-16T>G
|
rs2145395529
|
|
|
NM_000271.5(NPC1):c.2131-20T>A
|
rs915506749
|
|
|
NM_000271.5(NPC1):c.2131-20T>G
|
|
|
|
NM_000271.5(NPC1):c.2131-23_2131-19del
|
|
|
|
NM_000271.5(NPC1):c.2131-23_2131-20del
|
|
|
|
NM_000271.5(NPC1):c.2131-2_2131del
|
rs1555634236
|
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
|
NM_000271.5(NPC1):c.2133A>G (p.Arg711=)
|
|
|
|
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.2150G>A (p.Gly717Glu)
|
|
|
|
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
|
|
|
|
NM_000271.5(NPC1):c.2161G>A (p.Asp721Asn)
|
|
|
|
NM_000271.5(NPC1):c.2166G>A (p.Gln722=)
|
|
|
|
NM_000271.5(NPC1):c.2169G>A (p.Gln723=)
|
rs2145395069
|
|
|
NM_000271.5(NPC1):c.2170C>T (p.Leu724=)
|
|
|
|
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
|
|
|
|
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
|
|
|
|
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
|
|
|
|
NM_000271.5(NPC1):c.2175C>A (p.Gly725=)
|
rs2058741488
|
|
|
NM_000271.5(NPC1):c.2175C>G (p.Gly725=)
|
rs2058741488
|
|
|
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.217C>T (p.Leu73Phe)
|
|
|
|
NM_000271.5(NPC1):c.2181C>G (p.Val727=)
|
|
|
|
NM_000271.5(NPC1):c.2182C>T (p.Leu728=)
|
|
|
|
NM_000271.5(NPC1):c.2184A>C (p.Leu728=)
|
rs1396587033
|
|
|
NM_000271.5(NPC1):c.2197C>A (p.Pro733Thr)
|
|
|
|
NM_000271.5(NPC1):c.2198C>T (p.Pro733Leu)
|
|
|
|
NM_000271.5(NPC1):c.21C>T (p.Ala7=)
|
rs2059418475
|
|
|
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.2211G>C (p.Leu737=)
|
|
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
|
NM_000271.5(NPC1):c.2217C>T (p.Ser739=)
|
|
|
|
NM_000271.5(NPC1):c.2222C>T (p.Ser741Phe)
|
|
|
|
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys)
|
rs1555634202
|
|
|
NM_000271.5(NPC1):c.2228C>T (p.Thr743Ile)
|
|
|
|
NM_000271.5(NPC1):c.2229T>G (p.Thr743=)
|
rs1029406487
|
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
|
NM_000271.5(NPC1):c.2235A>G (p.Ala745=)
|
|
|
|
NM_000271.5(NPC1):c.2238T>C (p.Phe746=)
|
rs2145394616
|
|
|
NM_000271.5(NPC1):c.2241C>G (p.Phe747Leu)
|
|
|
|
NM_000271.5(NPC1):c.2245+12T>C
|
|
|
|
NM_000271.5(NPC1):c.2245+14C>T
|
|
|
|
NM_000271.5(NPC1):c.2245+1G>A
|
|
|
|
NM_000271.5(NPC1):c.2245+20T>C
|
|
|
|
NM_000271.5(NPC1):c.2245+9G>C
|
rs2058740364
|
|
|
NM_000271.5(NPC1):c.2246-11C>G
|
|
|
|
NM_000271.5(NPC1):c.2246-11C>T
|
|
|
|
NM_000271.5(NPC1):c.2246-13C>A
|
|
|
|
NM_000271.5(NPC1):c.2246-13C>T
|
|
|
|
NM_000271.5(NPC1):c.2246-14T>C
|
rs747500685
|
|
|
NM_000271.5(NPC1):c.2246-17_2246-16del
|
|
|
|
NM_000271.5(NPC1):c.2246-1G>A
|
|
|
|
NM_000271.5(NPC1):c.2246-5G>A
|
rs77289650
|
|
|
NM_000271.5(NPC1):c.2246-5G>C
|
rs77289650
|
|
|
NM_000271.5(NPC1):c.2246-5del
|
rs2145383531
|
|
|
NM_000271.5(NPC1):c.2246-9C>G
|
rs372137658
|
|
|
NM_000271.5(NPC1):c.2246-9C>T
|
|
|
|
NM_000271.5(NPC1):c.2256C>A (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2256C>G (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2256C>T (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2274C>T (p.His758=)
|
|
|
|
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
|
|
|
|
NM_000271.5(NPC1):c.2281T>A (p.Ser761Thr)
|
|
|
|
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs)
|
rs1057518613
|
|
|
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
|
|
|
|
NM_000271.5(NPC1):c.2289T>C (p.Phe763=)
|
rs2058711785
|
|
|
NM_000271.5(NPC1):c.228T>C (p.Asp76=)
|
|
|
|
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
|
|
|
|
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
|
|
|
|
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val)
|
rs773765255
|
|
|
NM_000271.5(NPC1):c.2296T>C (p.Leu766=)
|
rs1598948918
|
|
|
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)
|
rs2058711607
|
|
|
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly)
|
rs748589476
|
|
|
NM_000271.5(NPC1):c.2302dup (p.Val768fs)
|
rs483352881
|
|
|
NM_000271.5(NPC1):c.2309T>C (p.Ile770Thr)
|
rs2145382914
|
|
|
NM_000271.5(NPC1):c.2316T>C (p.Phe772=)
|
|
|
|
NM_000271.5(NPC1):c.2319T>C (p.Leu773=)
|
rs2145382820
|
|
|
NM_000271.5(NPC1):c.2319T>G (p.Leu773=)
|
rs2145382820
|
|
|
NM_000271.5(NPC1):c.2322G>C (p.Leu774=)
|
rs1173331930
|
|
|
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
|
|
|
|
NM_000271.5(NPC1):c.2325G>A (p.Gln775=)
|
rs2145382741
|
|
|
NM_000271.5(NPC1):c.2330C>T (p.Thr777Ile)
|
rs750232059
|
|
|
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu)
|
rs1555633722
|
|
|
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
|
|
|
|
NM_000271.5(NPC1):c.2338G>A (p.Val780Met)
|
|
|
|
NM_000271.5(NPC1):c.2351G>C (p.Gly784Ala)
|
|
|
|
NM_000271.5(NPC1):c.2358C>T (p.Asp786=)
|
|
|
|
NM_000271.5(NPC1):c.2360T>C (p.Ile787Thr)
|
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
|
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.2373+13C>T
|
|
|
|
NM_000271.5(NPC1):c.2373+4A>G
|
|
|
|
NM_000271.5(NPC1):c.2374-1G>A
|
rs2145381556
|
|
|
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
|
|
|
|
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
|
|
|
|
NM_000271.5(NPC1):c.2384T>C (p.Leu795Pro)
|
rs1414231528
|
|
|
NM_000271.5(NPC1):c.2391C>T (p.Ile797=)
|
|
|
|
NM_000271.5(NPC1):c.2394T>C (p.Phe798=)
|
|
|
|
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
|
|
|
|
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg)
|
rs1012718245
|
|
|
NM_000271.5(NPC1):c.2400T>C (p.Cys800=)
|
|
|
|
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln)
|
rs775077140
|
|
|
NM_000271.5(NPC1):c.2417A>G (p.Asp806Gly)
|
rs1825611761
|
|
|
NM_000271.5(NPC1):c.2426G>C (p.Ser809Thr)
|
rs769133876
|
|
|
NM_000271.5(NPC1):c.2427C>T (p.Ser809=)
|
|
|
|
NM_000271.5(NPC1):c.2428G>A (p.Val810Ile)
|
rs145362908
|
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
|
NM_000271.5(NPC1):c.2430C>T (p.Val810=)
|
|
|
|
NM_000271.5(NPC1):c.2431C>G (p.Gln811Glu)
|
rs2058707982
|
|
|
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
|
|
|
|
NM_000271.5(NPC1):c.2432A>G (p.Gln811Arg)
|
rs2145381038
|
|
|
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
|
|
|
|
NM_000271.5(NPC1):c.2436C>G (p.Ala812=)
|
|
|
|
NM_000271.5(NPC1):c.2436C>T (p.Ala812=)
|
|
|
|
NM_000271.5(NPC1):c.2440G>A (p.Glu814Lys)
|
|
|
|
NM_000271.5(NPC1):c.2442G>A (p.Glu814=)
|
|
|
|
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg)
|
rs767708998
|
|
|
NM_000271.5(NPC1):c.2445C>T (p.Ser815=)
|
rs767708998
|
|
|
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)
|
rs1555633637
|
|
|
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser)
|
rs762226042
|
|
|
NM_000271.5(NPC1):c.2455C>T (p.Arg819Cys)
|
|
|
|
NM_000271.5(NPC1):c.2460C>T (p.Phe820=)
|
rs764304407
|
|
|
NM_000271.5(NPC1):c.2463C>T (p.Phe821=)
|
rs2145380752
|
|
|
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
|
|
|
|
NM_000271.5(NPC1):c.2469C>T (p.Asn823=)
|
rs1433563737
|
|
|
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro)
|
rs2145380651
|
|
|
NM_000271.5(NPC1):c.247C>T (p.Leu83=)
|
|
|
|
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
|
|
|
|
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
|
|
|
|
NM_000271.5(NPC1):c.248_249del (p.Leu83fs)
|
rs2145544570
|
|
|
NM_000271.5(NPC1):c.2496C>T (p.Asp832=)
|
rs748149280
|
|
|
NM_000271.5(NPC1):c.249A>G (p.Leu83=)
|
|
|
|
NM_000271.5(NPC1):c.24T>G (p.Leu8=)
|
|
|
|
NM_000271.5(NPC1):c.24dup (p.Gly9fs)
|
rs2145603843
|
|
|
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val)
|
rs756239485
|
|
|
NM_000271.5(NPC1):c.2509A>T (p.Ile837Phe)
|
rs756239485
|
|
|
NM_000271.5(NPC1):c.2511T>G (p.Ile837Met)
|
rs369793282
|
|
|
NM_000271.5(NPC1):c.2514+10T>C
|
rs763191940
|
|
|
NM_000271.5(NPC1):c.2514+10_2514+14dup
|
|
|
|
NM_000271.5(NPC1):c.2514+14T>G
|
|
|
|
NM_000271.5(NPC1):c.2514+1G>A
|
|
|
|
NM_000271.5(NPC1):c.2514+4T>G
|
|
|
|
NM_000271.5(NPC1):c.2514+9T>G
|
rs1466320929
|
|
|
NM_000271.5(NPC1):c.2515-20T>C
|
|
|
|
NM_000271.5(NPC1):c.2515-2A>G
|
|
|
|
NM_000271.5(NPC1):c.2515-7_2515-5del
|
rs2145378278
|
|
|
NM_000271.5(NPC1):c.2515-8T>C
|
|
|
|
NM_000271.5(NPC1):c.2517A>G (p.Ile839Met)
|
|
|
|
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.2526T>A (p.Phe842Leu)
|
|
|
|
NM_000271.5(NPC1):c.2526T>C (p.Phe842=)
|
|
|
|
NM_000271.5(NPC1):c.2527G>T (p.Val843Leu)
|
|
|
|
NM_000271.5(NPC1):c.2529G>A (p.Val843=)
|
|
|
|
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
|
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
|
NM_000271.5(NPC1):c.2532T>C (p.Gly844=)
|
rs752998576
|
|
|
NM_000271.5(NPC1):c.2535T>G (p.Val845=)
|
rs2058699211
|
|
|
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
|
|
|
|
NM_000271.5(NPC1):c.2550C>T (p.Ile850=)
|
rs542171272
|
|
|
NM_000271.5(NPC1):c.2553A>G (p.Ala851=)
|
|
|
|
NM_000271.5(NPC1):c.2556C>G (p.Val852=)
|
|
|
|
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
|
|
|
|
NM_000271.5(NPC1):c.2571_2572delinsCG (p.Ile858Val)
|
|
|
|
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)
|
rs2058698654
|
|
|
NM_000271.5(NPC1):c.2578T>C (p.Leu860=)
|
rs1392853327
|
|
|
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)
|
rs2058698544
|
|
|
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
|
|
|
|
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
|
|
|
|
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
|
|
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
|
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)
|
rs1181604094
|
|
|
NM_000271.5(NPC1):c.2603A>T (p.Asp868Val)
|
|
|
|
NM_000271.5(NPC1):c.2604+11T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+14C>T
|
rs1332752050
|
|
|
NM_000271.5(NPC1):c.2604+14_2604+15del
|
|
|
|
NM_000271.5(NPC1):c.2604+14_2604+17del
|
rs775803617
|
|
|
NM_000271.5(NPC1):c.2604+15T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+19T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
|
NM_000271.5(NPC1):c.2604+2T>G
|
|
|
|
NM_000271.5(NPC1):c.2604+3A>G
|
|
|
|
NM_000271.5(NPC1):c.2604+5G>A
|
rs2058697907
|
|
|
NM_000271.5(NPC1):c.2604+7T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+7_2604+9dup
|
rs762002508
|
|
|
NM_000271.5(NPC1):c.2604+8G>T
|
rs1258459284
|
|
|
NM_000271.5(NPC1):c.2604+8_2604+71del
|
rs2058696209
|
|
|
NM_000271.5(NPC1):c.2604+9A>C
|
|
|
|
NM_000271.5(NPC1):c.2604+9A>G
|
|
|
|
NM_000271.5(NPC1):c.2605-13A>G
|
|
|
|
NM_000271.5(NPC1):c.2605-14del
|
|
|
|
NM_000271.5(NPC1):c.2605-15T>C
|
|
|
|
NM_000271.5(NPC1):c.2605-17T>C
|
|
|
|
NM_000271.5(NPC1):c.2605-18_2605-14del
|
rs2058690524
|
|
|
NM_000271.5(NPC1):c.2605-6_2605-3del
|
rs750411155
|
|
|
NM_000271.5(NPC1):c.2605-7C>T
|
|
|
|
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)
|
rs2058690179
|
|
|
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
|
|
|
|
NM_000271.5(NPC1):c.2613C>T (p.Tyr871=)
|
|
|
|
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
|
|
|
|
NM_000271.5(NPC1):c.261G>A (p.Leu87=)
|
rs2059212498
|
|
|
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)
|
rs1555633361
|
|
|
NM_000271.5(NPC1):c.2630A>C (p.Lys877Thr)
|
rs773177148
|
|
|
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg)
|
rs2145374045
|
|
|
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
|
|
|
|
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
|
|
|
|
NM_000271.5(NPC1):c.2646C>T (p.Tyr882=)
|
rs2145373926
|
|
|
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
|
|
|
|
NM_000271.5(NPC1):c.2649G>A (p.Leu883=)
|
|
|
|
NM_000271.5(NPC1):c.264G>A (p.Gln88=)
|
rs1599008867
|
|
|
NM_000271.5(NPC1):c.2652T>C (p.His884=)
|
rs779248798
|
|
|
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
|
rs769193340
|
|
|
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.2667G>A (p.Val889=)
|
|
|
|
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.2670C>T (p.Tyr890=)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2673T>C (p.Phe891=)
|
rs2145373623
|
|
|
NM_000271.5(NPC1):c.2674G>A (p.Val892Ile)
|
|
|
|
NM_000271.5(NPC1):c.267G>A (p.Leu89=)
|
rs761452493
|
|
|
NM_000271.5(NPC1):c.2682G>A (p.Glu894=)
|
|
|
|
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter)
|
rs2145373524
|
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
|
NM_000271.5(NPC1):c.2685A>G (p.Glu895=)
|
rs2145373502
|
|
|
NM_000271.5(NPC1):c.2691C>T (p.His897=)
|
rs751259112
|
|
|
NM_000271.5(NPC1):c.2694C>T (p.Asp898=)
|
|
|
|
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
|
|
|
|
NM_000271.5(NPC1):c.2699C>G (p.Thr900Ser)
|
|
|
|
NM_000271.5(NPC1):c.2703T>C (p.Ser901=)
|
rs2145373359
|
|
|
NM_000271.5(NPC1):c.2706C>T (p.Ser902=)
|
rs2058688184
|
|
|
NM_000271.5(NPC1):c.2712G>T (p.Gly904=)
|
rs560122245
|
|
|
NM_000271.5(NPC1):c.2712del (p.Gln905fs)
|
rs1555633309
|
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
|
NM_000271.5(NPC1):c.2715G>A (p.Gln905=)
|
|
|
|
NM_000271.5(NPC1):c.2719del (p.Met907fs)
|
|
|
|
NM_000271.5(NPC1):c.271C>G (p.Leu91Val)
|
rs773809600
|
|
|
NM_000271.5(NPC1):c.2730C>A (p.Gly910=)
|
|
|
|
NM_000271.5(NPC1):c.2730C>T (p.Gly910=)
|
rs749457981
|
|
|
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
|
|
|
|
NM_000271.5(NPC1):c.2734A>G (p.Met912Val)
|
rs746398811
|
|
|
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
|
|
|
|
NM_000271.5(NPC1):c.2739C>A (p.Gly913=)
|
rs2058687467
|
|
|
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
|
|
|
|
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)
|
rs2058687419
|
|
|
NM_000271.5(NPC1):c.2748T>C (p.Asn916=)
|
|
|
|
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
|
|
|
|
NM_000271.5(NPC1):c.2756T>A (p.Leu919Gln)
|
|
|
|
NM_000271.5(NPC1):c.2757G>T (p.Leu919=)
|
|
|
|
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
|
|
|
|
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
|
|
|
|
NM_000271.5(NPC1):c.2760G>A (p.Val920=)
|
rs2145372899
|
|
|
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.2767A>G (p.Ile923Val)
|
rs2058687030
|
|
|
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
|
|
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
|
NM_000271.5(NPC1):c.2779G>A (p.Ala927Thr)
|
|
|
|
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.2787G>A (p.Leu929=)
|
|
|
|
NM_000271.5(NPC1):c.2795+56C>T
|
rs2058685029
|
|
|
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter)
|
rs483352884
|
|
|
NM_000271.5(NPC1):c.2796-15G>A
|
|
|
|
NM_000271.5(NPC1):c.2796-15G>C
|
|
|
|
NM_000271.5(NPC1):c.2796-16TGTC[3]
|
|
|
|
NM_000271.5(NPC1):c.2796-17C>G
|
|
|
|
NM_000271.5(NPC1):c.2796-17C>T
|
|
|
|
NM_000271.5(NPC1):c.2796-18C>G
|
|
|
|
NM_000271.5(NPC1):c.2796-19C>A
|
rs2145371033
|
|
|
NM_000271.5(NPC1):c.2796-2A>T
|
|
|
|
NM_000271.5(NPC1):c.2796-4C>G
|
rs374406578
|
|
|
NM_000271.5(NPC1):c.2796-5T>C
|
|
|
|
NM_000271.5(NPC1):c.2796-7T>G
|
rs2145370948
|
|
|
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile)
|
rs752107020
|
|
|
NM_000271.5(NPC1):c.2799C>A (p.Thr933=)
|
rs759606859
|
|
|
NM_000271.5(NPC1):c.2799C>G (p.Thr933=)
|
|
|
|
NM_000271.5(NPC1):c.27CCT[2] (p.Leu15del)
|
rs1555645598
|
|
|
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu)
|
rs786204714
|
|
|
NM_000271.5(NPC1):c.2808C>T (p.Gly936=)
|
rs1567949544
|
|
|
NM_000271.5(NPC1):c.2812G>A (p.Ala938Thr)
|
|
|
|
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
|
|
|
|
NM_000271.5(NPC1):c.2823del (p.Trp942fs)
|
rs2145370732
|
|
|
NM_000271.5(NPC1):c.282G>A (p.Leu94=)
|
|
|
|
NM_000271.5(NPC1):c.2835T>C (p.Asp945=)
|
|
|
|
NM_000271.5(NPC1):c.2836T>A (p.Tyr946Asn)
|
|
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
|
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
|
|
|
|
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.2858A>G (p.Gln953Arg)
|
|
|
|
NM_000271.5(NPC1):c.286A>G (p.Arg96Gly)
|
|
|
|
NM_000271.5(NPC1):c.287+10G>C
|
rs2145544277
|
|
|
NM_000271.5(NPC1):c.287+15G>A
|
|
|
|
NM_000271.5(NPC1):c.287+16G>A
|
|
|
|
NM_000271.5(NPC1):c.287+19A>G
|
|
|
|
NM_000271.5(NPC1):c.287+5G>C
|
rs2145544311
|
|
|
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
|
|
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
|
NM_000271.5(NPC1):c.2874A>T (p.Arg958=)
|
rs2145370342
|
|
|
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
|
|
|
|
NM_000271.5(NPC1):c.288-12del
|
|
|
|
NM_000271.5(NPC1):c.288-14T>A
|
|
|
|
NM_000271.5(NPC1):c.288-14T>C
|
|
|
|
NM_000271.5(NPC1):c.288-17A>T
|
|
|
|
NM_000271.5(NPC1):c.288-8T>C
|
|
|
|
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
|
|
|
|
NM_000271.5(NPC1):c.2892C>T (p.Asp964=)
|
rs2145370277
|
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
|
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr)
|
rs2145370245
|
|
|
NM_000271.5(NPC1):c.2898C>T (p.Phe966=)
|
rs2145370238
|
|
|
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.2908dup (p.Ser970fs)
|
|
|
|
NM_000271.5(NPC1):c.2910A>G (p.Ser970=)
|
|
|
|
NM_000271.5(NPC1):c.2911+11C>T
|
|
|
|
NM_000271.5(NPC1):c.2911+15_2911+25del
|
|
|
|
NM_000271.5(NPC1):c.2911+17C>T
|
|
|
|
NM_000271.5(NPC1):c.2911+1del
|
rs1555633118
|
|
|
NM_000271.5(NPC1):c.2911+20A>G
|
|
|
|
NM_000271.5(NPC1):c.2911+20del
|
|
|
|
NM_000271.5(NPC1):c.2911+2del
|
rs2058678962
|
|
|
NM_000271.5(NPC1):c.2911+6T>A
|
|
|
|
NM_000271.5(NPC1):c.2911G>A (p.Val971Met)
|
rs928977082
|
|
|
NM_000271.5(NPC1):c.2912-15G>A
|
|
|
|
NM_000271.5(NPC1):c.2912-17C>A
|
|
|
|
NM_000271.5(NPC1):c.2912-18C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-19C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-2A>C
|
rs1555632994
|
|
|
NM_000271.5(NPC1):c.2912-3C>G
|
rs483352892
|
|
|
NM_000271.5(NPC1):c.2912-5G>T
|
rs369985476
|
|
|
NM_000271.5(NPC1):c.2912-7C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-9C>G
|
|
|
|
NM_000271.5(NPC1):c.2913G>A (p.Val971=)
|
|
|
|
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
|
|
|
|
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter)
|
rs370766410
|
|
|
NM_000271.5(NPC1):c.2929G>A (p.Val977Ile)
|
|
|
|
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)
|
rs28942108
|
|
|
NM_000271.5(NPC1):c.2937C>T (p.Cys979=)
|
rs199900435
|
|
|
NM_000271.5(NPC1):c.2943T>A (p.Pro981=)
|
rs2145366971
|
|
|
NM_000271.5(NPC1):c.2943T>C (p.Pro981=)
|
rs2145366971
|
|
|
NM_000271.5(NPC1):c.294A>G (p.Pro98=)
|
rs2145527506
|
|
|
NM_000271.5(NPC1):c.2950C>G (p.Pro984Ala)
|
|
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
|
NM_000271.5(NPC1):c.2958C>T (p.Gly986=)
|
|
|
|
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs)
|
rs2145366821
|
|
|
NM_000271.5(NPC1):c.2961A>G (p.Lys987=)
|
rs2145366840
|
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
|
NM_000271.5(NPC1):c.2967G>A (p.Arg989=)
|
rs2145366791
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
|
NM_000271.5(NPC1):c.2973G>C (p.Gln991His)
|
rs201118975
|
|
|
NM_000271.5(NPC1):c.2973G>T (p.Gln991His)
|
|
|
|
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.2982C>T (p.Asp994=)
|
|
|
|
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg)
|
rs1555632958
|
|
|
NM_000271.5(NPC1):c.2991A>T (p.Arg997Ser)
|
rs2145366523
|
|
|
NM_000271.5(NPC1):c.2995C>T (p.Leu999=)
|
rs2145366501
|
|
|
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
|
|
|
|
NM_000271.5(NPC1):c.3000C>T (p.Pro1000=)
|
|
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
|
NM_000271.5(NPC1):c.3003G>A (p.Met1001Ile)
|
rs2145366464
|
|
|
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
|
|
|
|
NM_000271.5(NPC1):c.3006C>T (p.Phe1002=)
|
rs1459424416
|
|
|
NM_000271.5(NPC1):c.3012G>C (p.Ser1004=)
|
rs182413311
|
|
|
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
|
|
|
|
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)
|
rs764789542
|
|
|
NM_000271.5(NPC1):c.3024C>T (p.Asn1008=)
|
rs2145366358
|
|
|
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs)
|
rs1352485089
|
|
|
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
|
|
|
|
NM_000271.5(NPC1):c.3027del (p.Lys1010fs)
|
rs1598942578
|
|
|
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
|
|
|
|
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys)
|
rs1555632941
|
|
|
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
|
|
|
|
NM_000271.5(NPC1):c.303T>C (p.Phe101=)
|
rs2145527436
|
|
|
NM_000271.5(NPC1):c.3041+11C>T
|
|
|
|
NM_000271.5(NPC1):c.3041+17T>C
|
|
|
|
NM_000271.5(NPC1):c.3041+1G>T
|
|
|
|
NM_000271.5(NPC1):c.3041+20C>A
|
|
|
|
NM_000271.5(NPC1):c.3041+2del
|
rs2058665849
|
|
|
NM_000271.5(NPC1):c.3041+8C>G
|
|
|
|
NM_000271.5(NPC1):c.3041+8C>T
|
rs756149557
|
|
|
NM_000271.5(NPC1):c.3041+8del
|
|
|
|
NM_000271.5(NPC1):c.3042-17del
|
|
|
|
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.3042-4T>G
|
rs772897780
|
|
|
NM_000271.5(NPC1):c.3042-9T>C
|
rs1598939834
|
|
|
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val)
|
rs761773567
|
|
|
NM_000271.5(NPC1):c.3051T>C (p.Ala1017=)
|
rs2145358114
|
|
|
NM_000271.5(NPC1):c.3053C>T (p.Ala1018Val)
|
rs2145358077
|
|
|
NM_000271.5(NPC1):c.3057T>C (p.Tyr1019=)
|
|
|
|
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.3081T>C (p.Leu1027=)
|
rs2145357954
|
|
|
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
|
|
|
|
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs)
|
rs1274484561
|
|
|
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr)
|
rs2058638089
|
|
|
NM_000271.5(NPC1):c.3086A>G (p.His1029Arg)
|
rs747201863
|
|
|
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
|
|
|
|
NM_000271.5(NPC1):c.3087T>C (p.His1029=)
|
|
|
|
NM_000271.5(NPC1):c.3094A>C (p.Arg1032=)
|
|
|
|
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
|
|
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
|
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
|
|
|
|
NM_000271.5(NPC1):c.3105C>T (p.Ala1035=)
|
|
|
|
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
|
|
|
|
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
|
|
|
|
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs)
|
rs2145357685
|
|
|
NM_000271.5(NPC1):c.310C>A (p.Leu104Ile)
|
rs2145527400
|
|
|
NM_000271.5(NPC1):c.3114C>T (p.Phe1038=)
|
|
|
|
NM_000271.5(NPC1):c.3120C>T (p.Thr1040=)
|
|
|
|
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter)
|
rs2145357627
|
|
|
NM_000271.5(NPC1):c.3126C>T (p.His1042=)
|
rs2145357603
|
|
|
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)
|
rs876661319
|
|
|
NM_000271.5(NPC1):c.312A>G (p.Leu104=)
|
rs2059164993
|
|
|
NM_000271.5(NPC1):c.3133C>T (p.Leu1045=)
|
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
|
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
|
|
|
|
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)
|
rs1446718670
|
|
|
NM_000271.5(NPC1):c.3138G>T (p.Gln1046His)
|
rs1385614579
|
|
|
NM_000271.5(NPC1):c.3141C>G (p.Thr1047=)
|
rs2145357418
|
|
|
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
|
|
|
|
NM_000271.5(NPC1):c.3147T>C (p.Ala1049=)
|
|
|
|
NM_000271.5(NPC1):c.3152T>C (p.Phe1051Ser)
|
|
|
|
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs)
|
rs2145357371
|
|
|
NM_000271.5(NPC1):c.3153T>C (p.Phe1051=)
|
|
|
|
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
|
|
|
|
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
|
|
|
|
NM_000271.5(NPC1):c.316A>G (p.Asn106Asp)
|
rs2145527323
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
|
NM_000271.5(NPC1):c.3176G>A (p.Arg1059Gln)
|
|
|
|
NM_000271.5(NPC1):c.3177A>G (p.Arg1059=)
|
|
|
|
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
|
|
|
|
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
|
rs967206412
|
|
|
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
|
|
|
|
NM_000271.5(NPC1):c.3195C>T (p.Val1065=)
|
|
|
|
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
|
|
|
|
NM_000271.5(NPC1):c.31C>G (p.Leu11Val)
|
|
|
|
NM_000271.5(NPC1):c.3203C>G (p.Thr1068Ser)
|
rs754323286
|
|
|
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)
|
rs754323286
|
|
|
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)
|
rs1567946736
|
|
|
NM_000271.5(NPC1):c.3210C>T (p.Gly1070=)
|
|
|
|
NM_000271.5(NPC1):c.3215A>G (p.Asn1072Ser)
|
|
|
|
NM_000271.5(NPC1):c.321G>A (p.Leu107=)
|
rs2145527281
|
|
|
NM_000271.5(NPC1):c.3222T>C (p.Ser1074=)
|
|
|
|
NM_000271.5(NPC1):c.3225C>T (p.Ala1075=)
|
rs2058635723
|
|
|
NM_000271.5(NPC1):c.3229C>G (p.Arg1077Gly)
|
rs750095738
|
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
|
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
|
|
|
|
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs)
|
rs863224902
|
|
|
NM_000271.5(NPC1):c.3240T>G (p.Pro1080=)
|
rs2058635486
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
|
NM_000271.5(NPC1):c.3245+12C>T
|
|
|
|
NM_000271.5(NPC1):c.3245+13dup
|
|
|
|
NM_000271.5(NPC1):c.3245+1G>T
|
|
|
|
NM_000271.5(NPC1):c.3245+7C>T
|
|
|
|
NM_000271.5(NPC1):c.3245+9T>C
|
|
|
|
NM_000271.5(NPC1):c.3246-12del
|
|
|
|
NM_000271.5(NPC1):c.3246-13C>G
|
|
|
|
NM_000271.5(NPC1):c.3246-13C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-14C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-15C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
|
NM_000271.5(NPC1):c.3246-5_3246-4delinsCT
|
rs2145352088
|
|
|
NM_000271.5(NPC1):c.3246-6C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-6dup
|
|
|
|
NM_000271.5(NPC1):c.3246-9C>T
|
rs920214522
|
|
|
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
|
|
|
|
NM_000271.5(NPC1):c.3249G>T (p.Val1083=)
|
|
|
|
NM_000271.5(NPC1):c.3252T>C (p.Phe1084=)
|
rs2145351993
|
|
|
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.3255T>C (p.Tyr1085=)
|
rs774602107
|
|
|
NM_000271.5(NPC1):c.3261C>T (p.Phe1087=)
|
rs2145351900
|
|
|
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.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.3281del (p.Ile1094fs)
|
|
|
|
NM_000271.5(NPC1):c.3283A>G (p.Ile1095Val)
|
rs2145351761
|
|
|
NM_000271.5(NPC1):c.3284T>C (p.Ile1095Thr)
|
|
|
|
NM_000271.5(NPC1):c.328G>C (p.Glu110Gln)
|
rs2145527241
|
|
|
NM_000271.5(NPC1):c.3291C>G (p.Asp1097Glu)
|
|
|
|
NM_000271.5(NPC1):c.3291C>T (p.Asp1097=)
|
rs2145351679
|
|
|
NM_000271.5(NPC1):c.3293C>A (p.Thr1098Asn)
|
rs746285672
|
|
|
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile)
|
rs746285672
|
|
|
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs)
|
rs2145351616
|
|
|
NM_000271.5(NPC1):c.3295A>G (p.Ile1099Val)
|
|
|
|
NM_000271.5(NPC1):c.3297C>A (p.Ile1099=)
|
rs531000417
|
|
|
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs)
|
rs2145351545
|
|
|
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=)
|
rs1567945743
|
|
|
NM_000271.5(NPC1):c.3302A>G (p.Asn1101Ser)
|
|
|
|
NM_000271.5(NPC1):c.3306C>T (p.Leu1102=)
|
rs756938143
|
|
|
NM_000271.5(NPC1):c.3309T>A (p.Gly1103=)
|
rs1598937342
|
|
|
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
|
|
|
|
NM_000271.5(NPC1):c.3315C>T (p.Ser1105=)
|
rs2145351336
|
|
|
NM_000271.5(NPC1):c.3318G>A (p.Leu1106=)
|
|
|
|
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs)
|
rs2145351287
|
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
|
NM_000271.5(NPC1):c.3321C>T (p.Gly1107=)
|
|
|
|
NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr)
|
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
|
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
|
|
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
|
NM_000271.5(NPC1):c.3336G>A (p.Val1112=)
|
rs2145351090
|
|
|
NM_000271.5(NPC1):c.3339C>T (p.Thr1113=)
|
|
|
|
NM_000271.5(NPC1):c.333G>A (p.Leu111=)
|
|
|
|
NM_000271.5(NPC1):c.333G>C (p.Leu111=)
|
|
|
|
NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)
|
|
|
|
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
|
|
|
|
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)
|
rs2145350930
|
|
|
NM_000271.5(NPC1):c.3350T>A (p.Leu1117Gln)
|
|
|
|
NM_000271.5(NPC1):c.3354C>T (p.Gly1118=)
|
|
|
|
NM_000271.5(NPC1):c.3356G>A (p.Cys1119Tyr)
|
rs2058617380
|
|
|
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
|
|
|
|
NM_000271.5(NPC1):c.335C>T (p.Thr112Ile)
|
|
|
|
NM_000271.5(NPC1):c.3363C>G (p.Leu1121=)
|
|
|
|
NM_000271.5(NPC1):c.336A>G (p.Thr112=)
|
|
|
|
NM_000271.5(NPC1):c.3373G>T (p.Val1125Phe)
|
|
|
|
NM_000271.5(NPC1):c.3376A>C (p.Ile1126Leu)
|
|
|
|
NM_000271.5(NPC1):c.3378C>T (p.Ile1126=)
|
rs777004814
|
|
|
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.3380T>C (p.Met1127Thr)
|
|
|
|
NM_000271.5(NPC1):c.3381G>A (p.Met1127Ile)
|
rs2145350601
|
|
|
NM_000271.5(NPC1):c.3387C>T (p.Ala1129=)
|
rs746670383
|
|
|
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
|
|
|
|
NM_000271.5(NPC1):c.3396C>T (p.Ala1132=)
|
|
|
|
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)
|
rs2059164609
|
|
|
NM_000271.5(NPC1):c.339T>C (p.Cys113=)
|
|
|
|
NM_000271.5(NPC1):c.3406G>A (p.Val1136Ile)
|
|
|
|
NM_000271.5(NPC1):c.3408C>T (p.Val1136=)
|
rs2145350422
|
|
|
NM_000271.5(NPC1):c.3410A>G (p.Asn1137Ser)
|
|
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
|
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
|
|
|
|
NM_000271.5(NPC1):c.3413T>C (p.Met1138Thr)
|
|
|
|
NM_000271.5(NPC1):c.3417T>C (p.Phe1139=)
|
rs2145350366
|
|
|
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs)
|
rs1057516647
|
|
|
NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val)
|
rs2058616184
|
|
|
NM_000271.5(NPC1):c.3420A>G (p.Gly1140=)
|
rs2145350342
|
|
|
NM_000271.5(NPC1):c.3423T>G (p.Val1141=)
|
rs2145350308
|
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
|
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
|
|
|
|
NM_000271.5(NPC1):c.3432C>T (p.Leu1144=)
|
rs191526202
|
|
|
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)
|
rs2145350224
|
|
|
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
|
|
|
|
NM_000271.5(NPC1):c.3436G>A (p.Gly1146Ser)
|
|
|
|
NM_000271.5(NPC1):c.3445C>T (p.Leu1149=)
|
|
|
|
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys)
|
rs34715591
|
|
|
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
|
|
|
|
NM_000271.5(NPC1):c.3453T>A (p.Ala1151=)
|
|
|
|
NM_000271.5(NPC1):c.3454G>A (p.Val1152Ile)
|
|
|
|
NM_000271.5(NPC1):c.3456A>G (p.Val1152=)
|
|
|
|
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.3461T>A (p.Leu1154Ter)
|
rs1555632182
|
|
|
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
|
|
|
|
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.3470_3473delinsAA (p.Leu1157fs)
|
|
|
|
NM_000271.5(NPC1):c.3471G>C (p.Leu1157=)
|
rs761086903
|
|
|
NM_000271.5(NPC1):c.3476T>C (p.Met1159Thr)
|
|
|
|
NM_000271.5(NPC1):c.3477+10C>G
|
|
|
|
NM_000271.5(NPC1):c.3477+10C>T
|
rs2058614679
|
|
|
NM_000271.5(NPC1):c.3477+12T>C
|
|
|
|
NM_000271.5(NPC1):c.3477+12T>G
|
|
|
|
NM_000271.5(NPC1):c.3477+13A>T
|
rs747652954
|
|
|
NM_000271.5(NPC1):c.3477+14_3477+15del
|
|
|
|
NM_000271.5(NPC1):c.3477+17T>C
|
|
|
|
NM_000271.5(NPC1):c.3477+1G>A
|
rs1405889589
|
|
|
NM_000271.5(NPC1):c.3477+20C>A
|
rs2145349664
|
|
|
NM_000271.5(NPC1):c.3477+20C>T
|
|
|
|
NM_000271.5(NPC1):c.3477+20_3477+25del
|
|
|
|
NM_000271.5(NPC1):c.3477+8C>T
|
rs2145349810
|
|
|
NM_000271.5(NPC1):c.3478-11C>A
|
|
|
|
NM_000271.5(NPC1):c.3478-12G>A
|
|
|
|
NM_000271.5(NPC1):c.3478-15A>C
|
|
|
|
NM_000271.5(NPC1):c.3478-15A>G
|
|
|
|
NM_000271.5(NPC1):c.3478-16A>T
|
rs2145344187
|
|
|
NM_000271.5(NPC1):c.3478-1G>C
|
|
|
|
NM_000271.5(NPC1):c.3478-3C>T
|
rs2145344067
|
|
|
NM_000271.5(NPC1):c.3478-4T>C
|
|
|
|
NM_000271.5(NPC1):c.3478-6T>A
|
rs1376131980
|
|
|
NM_000271.5(NPC1):c.3478-8T>C
|
|
|
|
NM_000271.5(NPC1):c.347G>A (p.Arg116Gln)
|
|
|
|
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.3495G>A (p.Val1165=)
|
|
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
|
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter)
|
rs2145527075
|
|
|
NM_000271.5(NPC1):c.34C>T (p.Leu12=)
|
|
|
|
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.3504C>T (p.Cys1168=)
|
rs2145343803
|
|
|
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.350dup (p.Ser118fs)
|
rs2145527060
|
|
|
NM_000271.5(NPC1):c.3511A>G (p.Ile1171Val)
|
|
|
|
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs)
|
rs1555631982
|
|
|
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu)
|
rs2058596241
|
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
|
NM_000271.5(NPC1):c.3531G>A (p.Val1177=)
|
rs758582034
|
|
|
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs)
|
rs1555631957
|
|
|
NM_000271.5(NPC1):c.3536T>C (p.Met1179Thr)
|
|
|
|
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
|
|
|
|
NM_000271.5(NPC1):c.3543C>A (p.Gly1181=)
|
|
|
|
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
|
|
|
|
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup)
|
rs1555631911
|
|
|
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
|
|
|
|
NM_000271.5(NPC1):c.3558C>G (p.Arg1186=)
|
rs141659629
|
|
|
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
|
|
|
|
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)
|
rs113371321
|
|
|
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=)
|
rs55724504
|
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
|
NM_000271.5(NPC1):c.3562G>A (p.Glu1188Lys)
|
|
|
|
NM_000271.5(NPC1):c.3562G>C (p.Glu1188Gln)
|
|
|
|
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter)
|
rs776701050
|
|
|
NM_000271.5(NPC1):c.3562del (p.Glu1188fs)
|
rs758231839
|
|
|
NM_000271.5(NPC1):c.3570A>G (p.Ala1190=)
|
rs1410662516
|
|
|
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
|
|
|
|
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
|
|
|
|
NM_000271.5(NPC1):c.3576C>T (p.Ala1192=)
|
|
|
|
NM_000271.5(NPC1):c.3580A>C (p.Met1194Leu)
|
rs780120393
|
|
|
NM_000271.5(NPC1):c.3580A>G (p.Met1194Val)
|
|
|
|
NM_000271.5(NPC1):c.3588C>T (p.Ser1196=)
|
rs1417460843
|
|
|
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)
|
rs1234099104
|
|
|
NM_000271.5(NPC1):c.3591+121C>A
|
|
|
|
NM_000271.5(NPC1):c.3591+121C>T
|
|
|
|
NM_000271.5(NPC1):c.3591+12G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+14G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+14_3591+15dup
|
|
|
|
NM_000271.5(NPC1):c.3591+16A>G
|
rs781750226
|
|
|
NM_000271.5(NPC1):c.3591+17G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+17G>C
|
|
|
|
NM_000271.5(NPC1):c.3591+18G>T
|
|
|
|
NM_000271.5(NPC1):c.3591+19G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+20C>T
|
|
|
|
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.3591+3G>C
|
|
|
|
NM_000271.5(NPC1):c.3591+9C>G
|
|
|
|
NM_000271.5(NPC1):c.3592-10C>A
|
|
|
|
NM_000271.5(NPC1):c.3592-12C>T
|
|
|
|
NM_000271.5(NPC1):c.3592-14A>C
|
rs781517101
|
|
|
NM_000271.5(NPC1):c.3592-14A>T
|
rs781517101
|
|
|
NM_000271.5(NPC1):c.3592-1G>C
|
rs1555631653
|
|
|
NM_000271.5(NPC1):c.3592-20C>T
|
|
|
|
NM_000271.5(NPC1):c.3592-3T>C
|
rs2145336490
|
|
|
NM_000271.5(NPC1):c.3592-4T>C
|
rs2145336521
|
|
|
NM_000271.5(NPC1):c.3592-6T>C
|
|
|
|
NM_000271.5(NPC1):c.3592-7_3592-3del
|
rs760935117
|
|
|
NM_000271.5(NPC1):c.3592-7_3592-5del
|
rs764142835
|
|
|
NM_000271.5(NPC1):c.3592-9T>C
|
|
|
|
NM_000271.5(NPC1):c.3597C>T (p.Phe1199=)
|
|
|
|
NM_000271.5(NPC1):c.3597del (p.Phe1199fs)
|
rs2058574038
|
|
|
NM_000271.5(NPC1):c.3605T>C (p.Ile1202Thr)
|
|
|
|
NM_000271.5(NPC1):c.360T>C (p.Phe120=)
|
|
|
|
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)
|
rs786200879
|
|
|
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs)
|
rs1555631642
|
|
|
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.3614C>T (p.Thr1205Ile)
|
|
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
|
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
|
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
|
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
|
|
|
|
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
|
|
|
|
NM_000271.5(NPC1):c.3648C>T (p.Ala1216=)
|
|
|
|
NM_000271.5(NPC1):c.3651A>G (p.Lys1217=)
|
rs2058572770
|
|
|
NM_000271.5(NPC1):c.3654T>C (p.Ser1218=)
|
|
|
|
NM_000271.5(NPC1):c.3657A>G (p.Gln1219=)
|
|
|
|
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
|
|
|
|
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr)
|
rs1266315135
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
|
NM_000271.5(NPC1):c.3666G>A (p.Gln1222=)
|
rs2058572490
|
|
|
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs)
|
rs1555631610
|
|
|
NM_000271.5(NPC1):c.3669A>T (p.Ile1223=)
|
|
|
|
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
|
|
|
|
NM_000271.5(NPC1):c.3678del (p.Phe1226fs)
|
rs2058572084
|
|
|
NM_000271.5(NPC1):c.3679A>C (p.Arg1227=)
|
rs772924731
|
|
|
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly)
|
rs772924731
|
|
|
NM_000271.5(NPC1):c.3680G>T (p.Arg1227Met)
|
rs867139443
|
|
|
NM_000271.5(NPC1):c.3681G>A (p.Arg1227=)
|
rs1363776523
|
|
|
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
|
|
|
|
NM_000271.5(NPC1):c.3690G>A (p.Leu1230=)
|
rs2145335755
|
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
|
NM_000271.5(NPC1):c.36G>A (p.Leu12=)
|
rs1599033687
|
|
|
NM_000271.5(NPC1):c.36GCT[1] (p.Leu15del)
|
|
|
|
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser)
|
rs2145335710
|
|
|
NM_000271.5(NPC1):c.3703C>T (p.Leu1235=)
|
rs2145335698
|
|
|
NM_000271.5(NPC1):c.3705G>T (p.Leu1235=)
|
rs2145335683
|
|
|
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
|
|
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
|
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
|
|
|
|
NM_000271.5(NPC1):c.372A>G (p.Thr124=)
|
rs748125983
|
|
|
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
|
|
|
|
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=)
|
rs1621962
|
|
|
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
|
|
|
|
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.3754+10C>T
|
rs2145335243
|
|
|
NM_000271.5(NPC1):c.3754+11T>C
|
|
|
|
NM_000271.5(NPC1):c.3754+12C>T
|
|
|
|
NM_000271.5(NPC1):c.3754+13A>G
|
|
|
|
NM_000271.5(NPC1):c.3754+13A>T
|
|
|
|
NM_000271.5(NPC1):c.3754+14T>C
|
|
|
|
NM_000271.5(NPC1):c.3754+19A>C
|
|
|
|
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.3754+4A>G
|
rs2145335270
|
|
|
NM_000271.5(NPC1):c.3755-12T>C
|
|
|
|
NM_000271.5(NPC1):c.3755-13C>G
|
|
|
|
NM_000271.5(NPC1):c.3755-16TC[4]
|
rs760529810
|
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
|
NM_000271.5(NPC1):c.3755-18del
|
|
|
|
NM_000271.5(NPC1):c.3755-19_3755-18del
|
rs932568903
|
|
|
NM_000271.5(NPC1):c.3755-22_3755-17del
|
rs1309874755
|
|
|
NM_000271.5(NPC1):c.3755-3T>C
|
rs748965235
|
|
|
NM_000271.5(NPC1):c.3755-5C>T
|
|
|
|
NM_000271.5(NPC1):c.3755-7C>G
|
rs2145326430
|
|
|
NM_000271.5(NPC1):c.3756G>A (p.Gly1252=)
|
|
|
|
NM_000271.5(NPC1):c.3759A>G (p.Pro1253=)
|
|
|
|
NM_000271.5(NPC1):c.3762A>G (p.Ser1254=)
|
|
|
|
NM_000271.5(NPC1):c.3768T>C (p.Asn1256=)
|
|
|
|
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs)
|
rs1555631176
|
|
|
NM_000271.5(NPC1):c.3772del (p.Ala1258fs)
|
rs1555631174
|
|
|
NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp)
|
rs767400384
|
|
|
NM_000271.5(NPC1):c.3778del (p.Ser1260fs)
|
rs1555631169
|
|
|
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del)
|
rs1482228628
|
|
|
NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro)
|
|
|
|
NM_000271.5(NPC1):c.3789T>C (p.Thr1263=)
|
|
|
|
NM_000271.5(NPC1):c.378del (p.Glu127fs)
|
|
|
|
NM_000271.5(NPC1):c.3792A>G (p.Glu1264=)
|
|
|
|
NM_000271.5(NPC1):c.3797G>T (p.Arg1266Leu)
|
|
|
|
NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His)
|
rs2058535881
|
|
|
NM_000271.5(NPC1):c.3798A>C (p.Arg1266=)
|
|
|
|
NM_000271.5(NPC1):c.379G>C (p.Glu127Gln)
|
|
|
|
NM_000271.5(NPC1):c.3801C>T (p.Tyr1267=)
|
rs2145325599
|
|
|
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu)
|
rs988215442
|
|
|
NM_000271.5(NPC1):c.3813G>A (p.Glu1271=)
|
|
|
|
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
|
|
|
|
NM_000271.5(NPC1):c.381A>G (p.Glu127=)
|
|
|
|
NM_000271.5(NPC1):c.3821G>T (p.Arg1274Leu)
|
|
|
|
NM_000271.5(NPC1):c.3822G>C (p.Arg1274=)
|
|
|
|
NM_000271.5(NPC1):c.3830A>C (p.Asn1277Thr)
|
|
|
|
NM_000271.5(NPC1):c.3833T>A (p.Phe1278Tyr)
|
|
|
|
NM_000271.5(NPC1):c.383A>G (p.Asp128Gly)
|
|
|
|
NM_000271.5(NPC1):c.387_388inv (p.Val130Ile)
|
|
|
|
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
|
|
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
|
NM_000271.5(NPC1):c.397G>C (p.Val133Leu)
|
rs2145526753
|
|
|
NM_000271.5(NPC1):c.397del (p.Val133fs)
|
rs1057517186
|
|
|
NM_000271.5(NPC1):c.399T>C (p.Val133=)
|
rs2059163520
|
|
|
NM_000271.5(NPC1):c.39G>A (p.Leu13=)
|
|
|
|
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)
|
rs1555645630
|
|
|
NM_000271.5(NPC1):c.403A>C (p.Asn135His)
|
|
|
|
NM_000271.5(NPC1):c.407del (p.Gln136fs)
|
|
|
|
NM_000271.5(NPC1):c.408G>A (p.Gln136=)
|
|
|
|
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs)
|
rs1555641027
|
|
|
NM_000271.5(NPC1):c.415del (p.Thr139fs)
|
|
|
|
NM_000271.5(NPC1):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_000271.5(NPC1):c.416dup (p.Asn140fs)
|
rs483352880
|
|
|
NM_000271.5(NPC1):c.420T>C (p.Asn140=)
|
rs369039319
|
|
|
NM_000271.5(NPC1):c.423G>A (p.Val141=)
|
|
|
|
NM_000271.5(NPC1):c.425_428del (p.Lys142fs)
|
rs770580241
|
|
|
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
|
|
|
|
NM_000271.5(NPC1):c.42_44del (p.Leu15del)
|
rs895660071
|
|
|
NM_000271.5(NPC1):c.430T>G (p.Leu144Val)
|
|
|
|
NM_000271.5(NPC1):c.432A>G (p.Leu144=)
|
|
|
|
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)
|
rs1057516749
|
|
|
NM_000271.5(NPC1):c.435A>G (p.Gln145=)
|
rs746389947
|
|
|
NM_000271.5(NPC1):c.442G>C (p.Val148Leu)
|
rs200323346
|
|
|
NM_000271.5(NPC1):c.444C>G (p.Val148=)
|
rs899764342
|
|
|
NM_000271.5(NPC1):c.447A>G (p.Gly149=)
|
|
|
|
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg)
|
rs2059417979
|
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
|
NM_000271.5(NPC1):c.463+11T>C
|
|
|
|
NM_000271.5(NPC1):c.463+13T>C
|
|
|
|
NM_000271.5(NPC1):c.463+13_463+14del
|
rs777614426
|
|
|
NM_000271.5(NPC1):c.463+1G>A
|
|
|
|
NM_000271.5(NPC1):c.463+2T>G
|
rs2145526252
|
|
|
NM_000271.5(NPC1):c.463+3A>G
|
rs2059162323
|
|
|
NM_000271.5(NPC1):c.463+4_463+5dup
|
rs2145526225
|
|
|
NM_000271.5(NPC1):c.463+7A>G
|
rs2145526194
|
|
|
NM_000271.5(NPC1):c.463+7A>T
|
rs2145526194
|
|
|
NM_000271.5(NPC1):c.463G>T (p.Ala155Ser)
|
|
|
|
NM_000271.5(NPC1):c.464-11T>G
|
|
|
|
NM_000271.5(NPC1):c.464-12T>C
|
|
|
|
NM_000271.5(NPC1):c.464-12T>G
|
|
|
|
NM_000271.5(NPC1):c.464-15G>A
|
|
|
|
NM_000271.5(NPC1):c.464-16G>A
|
|
|
|
NM_000271.5(NPC1):c.464-17T>C
|
|
|
|
NM_000271.5(NPC1):c.464-17T>G
|
|
|
|
NM_000271.5(NPC1):c.464-19T>G
|
|
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
|
NM_000271.5(NPC1):c.464-7C>T
|
|
|
|
NM_000271.5(NPC1):c.464-9C>G
|
rs746194096
|
|
|
NM_000271.5(NPC1):c.467T>G (p.Met156Arg)
|
|
|
|
NM_000271.5(NPC1):c.473del (p.Asn158fs)
|
|
|
|
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
|
|
|
|
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
|
rs2059038990
|
|
|
NM_000271.5(NPC1):c.477C>T (p.Ala159=)
|
rs2145485629
|
|
|
NM_000271.5(NPC1):c.480C>T (p.Cys160=)
|
|
|
|
NM_000271.5(NPC1):c.483G>A (p.Arg161=)
|
|
|
|
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp)
|
rs1555638953
|
|
|
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
|
|
|
|
NM_000271.5(NPC1):c.498C>T (p.Pro166=)
|
|
|
|
NM_000271.5(NPC1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)
|
rs752409181
|
|
|
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
|
|
|
|
NM_000271.5(NPC1):c.501A>T (p.Ser167=)
|
rs202148667
|
|
|
NM_000271.5(NPC1):c.503G>A (p.Ser168Asn)
|
rs2145485415
|
|
|
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile)
|
rs2059038310
|
|
|
NM_000271.5(NPC1):c.510C>T (p.Asp170=)
|
rs887908568
|
|
|
NM_000271.5(NPC1):c.525C>A (p.Leu175=)
|
|
|
|
NM_000271.5(NPC1):c.525C>T (p.Leu175=)
|
|
|
|
NM_000271.5(NPC1):c.528G>A (p.Leu176=)
|
|
|
|
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.547G>T (p.Ala183Ser)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.548C>T (p.Ala183Val)
|
|
|
|
NM_000271.5(NPC1):c.549C>T (p.Ala183=)
|
|
|
|
NM_000271.5(NPC1):c.54G>A (p.Ala18=)
|
rs2145603628
|
|
|
NM_000271.5(NPC1):c.54G>T (p.Ala18=)
|
|
|
|
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr)
|
rs1555638882
|
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
|
NM_000271.5(NPC1):c.558C>T (p.Ala186=)
|
|
|
|
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr)
|
rs1555638862
|
|
|
NM_000271.5(NPC1):c.57+12C>G
|
|
|
|
NM_000271.5(NPC1):c.57+16C>T
|
|
|
|
NM_000271.5(NPC1):c.57+19C>A
|
|
|
|
NM_000271.5(NPC1):c.57+20C>T
|
rs1555645565
|
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
|
NM_000271.5(NPC1):c.57+5G>A
|
rs1425231411
|
|
|
NM_000271.5(NPC1):c.57+7G>T
|
|
|
|
NM_000271.5(NPC1):c.57+8G>A
|
rs2145603587
|
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
|
NM_000271.5(NPC1):c.577A>G (p.Met193Val)
|
|
|
|
NM_000271.5(NPC1):c.58-14T>C
|
|
|
|
NM_000271.5(NPC1):c.58-15G>A
|
|
|
|
NM_000271.5(NPC1):c.58-15G>T
|
|
|
|
NM_000271.5(NPC1):c.58-16T>C
|
|
|
|
NM_000271.5(NPC1):c.58-2A>T
|
rs1555642347
|
|
|
NM_000271.5(NPC1):c.58-7del
|
rs2145552580
|
|
|
NM_000271.5(NPC1):c.584A>T (p.Asn195Ile)
|
|
|
|
NM_000271.5(NPC1):c.585T>C (p.Asn195=)
|
|
|
|
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)
|
rs754653682
|
|
|
NM_000271.5(NPC1):c.588G>A (p.Lys196=)
|
rs2145484736
|
|
|
NM_000271.5(NPC1):c.594T>C (p.Asn198=)
|
rs2145484696
|
|
|
NM_000271.5(NPC1):c.597A>G (p.Gly199=)
|
|
|
|
NM_000271.5(NPC1):c.606T>C (p.Pro202=)
|
rs1598986724
|
|
|
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
|
|
|
|
NM_000271.5(NPC1):c.60G>A (p.Val20=)
|
|
|
|
NM_000271.5(NPC1):c.610A>G (p.Thr204Ala)
|
|
|
|
NM_000271.5(NPC1):c.619C>T (p.Pro207Ser)
|
|
|
|
NM_000271.5(NPC1):c.620C>T (p.Pro207Leu)
|
|
|
|
NM_000271.5(NPC1):c.622G>T (p.Val208Leu)
|
|
|
|
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer)
|
rs1057516260
|
|
|
NM_000271.5(NPC1):c.631+10A>G
|
rs2145484423
|
|
|
NM_000271.5(NPC1):c.631+13A>G
|
|
|
|
NM_000271.5(NPC1):c.631+16C>G
|
|
|
|
NM_000271.5(NPC1):c.631+18A>G
|
|
|
|
NM_000271.5(NPC1):c.631+1G>T
|
|
|
|
NM_000271.5(NPC1):c.631+20G>C
|
rs761048830
|
|
|
NM_000271.5(NPC1):c.631+5G>A
|
|
|
|
NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)
|
|
|
|
NM_000271.5(NPC1):c.631G>T (p.Asp211Tyr)
|
|
|
|
NM_000271.5(NPC1):c.632-10C>T
|
rs952084518
|
|
|
NM_000271.5(NPC1):c.632-11C>G
|
|
|
|
NM_000271.5(NPC1):c.632-16C>T
|
|
|
|
NM_000271.5(NPC1):c.632-4G>A
|
rs757177354
|
|
|
NM_000271.5(NPC1):c.632-5T>A
|
|
|
|
NM_000271.5(NPC1):c.632-5T>C
|
rs2145481075
|
|
|
NM_000271.5(NPC1):c.632-6C>T
|
|
|
|
NM_000271.5(NPC1):c.63T>G (p.Phe21Leu)
|
rs2145552491
|
|
|
NM_000271.5(NPC1):c.642C>T (p.Val214=)
|
|
|
|
NM_000271.5(NPC1):c.644del (p.His215fs)
|
rs2145481013
|
|
|
NM_000271.5(NPC1):c.645T>C (p.His215=)
|
|
|
|
NM_000271.5(NPC1):c.646G>A (p.Gly216Arg)
|
|
|
|
NM_000271.5(NPC1):c.652G>C (p.Glu218Gln)
|
rs972514142
|
|
|
NM_000271.5(NPC1):c.652del (p.Glu218fs)
|
|
|
|
NM_000271.5(NPC1):c.657C>T (p.Pro219=)
|
rs760983826
|
|
|
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
|
|
|
|
NM_000271.5(NPC1):c.668C>G (p.Ala223Gly)
|
rs2145480831
|
|
|
NM_000271.5(NPC1):c.669C>A (p.Ala223=)
|
|
|
|
NM_000271.5(NPC1):c.678C>T (p.Gly226=)
|
|
|
|
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)
|
rs2059021939
|
|
|
NM_000271.5(NPC1):c.681T>C (p.Cys227=)
|
rs2059021939
|
|
|
NM_000271.5(NPC1):c.687G>A (p.Glu229=)
|
rs1229968387
|
|
|
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.6C>G (p.Thr2=)
|
|
|
|
NM_000271.5(NPC1):c.702C>T (p.Val234=)
|
|
|
|
NM_000271.5(NPC1):c.705A>G (p.Thr235=)
|
|
|
|
NM_000271.5(NPC1):c.711A>G (p.Pro237=)
|
|
|
|
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
|
|
|
|
NM_000271.5(NPC1):c.720C>T (p.Cys240=)
|
|
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
|
|
NM_000271.5(NPC1):c.723A>G (p.Gln241=)
|
rs1445528921
|
|
|
NM_000271.5(NPC1):c.728G>C (p.Cys243Ser)
|
|
|
|
NM_000271.5(NPC1):c.734T>C (p.Ile245Thr)
|
|
|
|
NM_000271.5(NPC1):c.735T>C (p.Ile245=)
|
rs2145480361
|
|
|
NM_000271.5(NPC1):c.736G>A (p.Val246Ile)
|
|
|
|
NM_000271.5(NPC1):c.738C>T (p.Val246=)
|
|
|
|
NM_000271.5(NPC1):c.741T>C (p.Cys247=)
|
rs2145480310
|
|
|
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
|
|
|
|
NM_000271.5(NPC1):c.743G>A (p.Gly248Asp)
|
|
|
|
NM_000271.5(NPC1):c.746C>G (p.Pro249Arg)
|
|
|
|
NM_000271.5(NPC1):c.747del (p.Lys250fs)
|
|
|
|
NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
|
|
|
|
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
|
|
|
|
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
|
|
|
|
NM_000271.5(NPC1):c.752C>G (p.Pro251Arg)
|
|
|
|
NM_000271.5(NPC1):c.753C>A (p.Pro251=)
|
|
|
|
NM_000271.5(NPC1):c.753C>G (p.Pro251=)
|
|
|
|
NM_000271.5(NPC1):c.754del (p.Gln252fs)
|
|
|
|
NM_000271.5(NPC1):c.756G>C (p.Gln252His)
|
rs768008295
|
|
|
NM_000271.5(NPC1):c.758C>T (p.Pro253Leu)
|
rs2145480194
|
|
|
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
|
|
|
|
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
|
rs2059020379
|
|
|
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln)
|
rs752145311
|
|
|
NM_000271.5(NPC1):c.761C>G (p.Pro254Arg)
|
rs752145311
|
|
|
NM_000271.5(NPC1):c.762del (p.Pro255fs)
|
|
|
|
NM_000271.5(NPC1):c.764C>G (p.Pro255Arg)
|
|
|
|
NM_000271.5(NPC1):c.765T>A (p.Pro255=)
|
|
|
|
NM_000271.5(NPC1):c.771T>G (p.Pro257=)
|
rs769403499
|
|
|
NM_000271.5(NPC1):c.782C>T (p.Thr261Met)
|
|
|
|
NM_000271.5(NPC1):c.783G>C (p.Thr261=)
|
rs770731602
|
|
|
NM_000271.5(NPC1):c.789T>C (p.Leu263=)
|
|
|
|
NM_000271.5(NPC1):c.792C>G (p.Gly264=)
|
|
|
|
NM_000271.5(NPC1):c.792C>T (p.Gly264=)
|
|
|
|
NM_000271.5(NPC1):c.793T>C (p.Leu265=)
|
|
|
|
NM_000271.5(NPC1):c.801C>T (p.Ala267=)
|
|
|
|
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
|
|
|
|
NM_000271.5(NPC1):c.806A>G (p.Tyr269Cys)
|
|
|
|
NM_000271.5(NPC1):c.808G>A (p.Val270Ile)
|
|
|
|
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
|
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
|
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)
|
|
|
|
NM_000271.5(NPC1):c.815T>C (p.Met272Thr)
|
|
|
|
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)
|
rs2059233403
|
|
|
NM_000271.5(NPC1):c.825C>T (p.Thr275=)
|
rs1291859932
|
|
|
NM_000271.5(NPC1):c.828C>T (p.Tyr276=)
|
rs2145479742
|
|
|
NM_000271.5(NPC1):c.829A>G (p.Met277Val)
|
|
|
|
NM_000271.5(NPC1):c.833C>T (p.Ala278Val)
|
|
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
|
NM_000271.5(NPC1):c.846G>A (p.Val282=)
|
|
|
|
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
|
|
|
|
NM_000271.5(NPC1):c.84T>C (p.Tyr28=)
|
rs2145552359
|
|
|
NM_000271.5(NPC1):c.852T>C (p.Phe284=)
|
rs2145479572
|
|
|
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.861T>C (p.Phe287=)
|
|
|
|
NM_000271.5(NPC1):c.864del (p.Phe288fs)
|
|
|
|
NM_000271.5(NPC1):c.866C>G (p.Ala289Gly)
|
|
|
|
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)
|
rs2059018297
|
|
|
NM_000271.5(NPC1):c.881+15T>C
|
|
|
|
NM_000271.5(NPC1):c.881+15_881+18del
|
|
|
|
NM_000271.5(NPC1):c.881+1G>A
|
|
|
|
NM_000271.5(NPC1):c.881+1G>T
|
rs1555638409
|
|
|
NM_000271.5(NPC1):c.882-18_882-16del
|
|
|
|
NM_000271.5(NPC1):c.882-19C>T
|
|
|
|
NM_000271.5(NPC1):c.882-9G>T
|
rs1598978686
|
|
|
NM_000271.5(NPC1):c.882-9del
|
|
|
|
NM_000271.5(NPC1):c.887G>T (p.Arg296Leu)
|
|
|
|
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)
|
rs2059233326
|
|
|
NM_000271.5(NPC1):c.890A>G (p.Tyr297Cys)
|
rs776844130
|
|
|
NM_000271.5(NPC1):c.895G>C (p.Val299Leu)
|
rs1032415844
|
|
|
NM_000271.5(NPC1):c.895del (p.Val299fs)
|
|
|
|
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys)
|
rs2058966735
|
|
|
NM_000271.5(NPC1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)
|
rs150154006
|
|
|
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup)
|
rs1555637509
|
|
|
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
|
|
|
|
NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)
|
|
|
|
NM_000271.5(NPC1):c.90G>A (p.Glu30=)
|
rs1273070261
|
|
|
NM_000271.5(NPC1):c.91T>C (p.Cys31Arg)
|
|
|
|
NM_000271.5(NPC1):c.922A>C (p.Asn308His)
|
|
|
|
NM_000271.5(NPC1):c.924T>C (p.Asn308=)
|
|
|
|
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
|
|
|
|
NM_000271.5(NPC1):c.925A>G (p.Ile309Val)
|
|
|
|
NM_000271.5(NPC1):c.934T>C (p.Ser312Pro)
|
|
|
|
NM_000271.5(NPC1):c.942T>C (p.Asn314=)
|
rs2058965486
|
|
|
NM_000271.5(NPC1):c.943del (p.Ala315fs)
|
|
|
|
NM_000271.5(NPC1):c.947G>A (p.Ser316Asn)
|
rs1018014075
|
|
|
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs)
|
rs2145552247
|
|
|
NM_000271.5(NPC1):c.951C>T (p.Asp317=)
|
rs779526299
|
|
|
NM_000271.5(NPC1):c.955+17A>G
|
|
|
|
NM_000271.5(NPC1):c.955+18T>C
|
|
|
|
NM_000271.5(NPC1):c.955+19G>A
|
rs2145461537
|
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
|
NM_000271.5(NPC1):c.955+4G>A
|
|
|
|
NM_000271.5(NPC1):c.955+7A>G
|
|
|
|
NM_000271.5(NPC1):c.955+8T>C
|
|
|
|
NM_000271.5(NPC1):c.956-12C>T
|
|
|
|
NM_000271.5(NPC1):c.956-14_956-13del
|
|
|
|
NM_000271.5(NPC1):c.956-16T>C
|
|
|
|
NM_000271.5(NPC1):c.956-1G>T
|
|
|
|
NM_000271.5(NPC1):c.956-4C>A
|
rs2145458780
|
|
|
NM_000271.5(NPC1):c.956-4C>G
|
rs2145458780
|
|
|
NM_000271.5(NPC1):c.956-7C>T
|
rs537484682
|
|
|
NM_000271.5(NPC1):c.958G>A (p.Glu320Lys)
|
|
|
|
NM_000271.5(NPC1):c.960G>A (p.Glu320=)
|
|
|
|
NM_000271.5(NPC1):c.963G>T (p.Ala321=)
|
|
|
|
NM_000271.5(NPC1):c.966C>G (p.Ser322=)
|
rs61731965
|
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
|
NM_000271.5(NPC1):c.975C>T (p.Asp325=)
|
|
|
|
NM_000271.5(NPC1):c.978T>C (p.Pro326=)
|
rs2145458556
|
|
|
NM_000271.5(NPC1):c.981C>T (p.Val327=)
|
|
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
|
NM_000271.5(NPC1):c.998G>A (p.Gly333Asp)
|
rs2058955343
|
|
|
NM_000271.5(NPC1):c.999C>T (p.Gly333=)
|
|
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
|
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
|
|
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
|
NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]
|
|
|
|
NM_000543.4:c.777_778ins8
|
|
|
|
NM_000543.5(SMPD1):c.*294G>C
|
rs12278115
|
|
|
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
|
|
|
|
NM_000543.5(SMPD1):c.1020C>T (p.Ser340=)
|
rs1590740483
|
|
|
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)
|
rs200242334
|
|
|
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.1032T>G (p.Tyr344Ter)
|
rs2134013121
|
|
|
NM_000543.5(SMPD1):c.1038G>A (p.Ala346=)
|
rs781107025
|
|
|
NM_000543.5(SMPD1):c.1038G>T (p.Ala346=)
|
rs781107025
|
|
|
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
|
|
|
|
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=)
|
rs555187617
|
|
|
NM_000543.5(SMPD1):c.1054del (p.Glu352fs)
|
rs1847952502
|
|
|
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala)
|
rs771028947
|
|
|
NM_000543.5(SMPD1):c.1059C>A (p.Pro353=)
|
rs1444697663
|
|
|
NM_000543.5(SMPD1):c.105G>C (p.Leu35=)
|
rs2134005231
|
|
|
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
|
|
|
|
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
|
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
|
rs1554933800
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
|
rs1554933800
|
|
|
NM_000543.5(SMPD1):c.106dup (p.Val36fs)
|
rs1590735238
|
|
|
NM_000543.5(SMPD1):c.1071C>G (p.Ala357=)
|
|
|
|
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)
|
rs2134013240
|
|
|
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)
|
rs797044800
|
|
|
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)
|
rs797044800
|
|
|
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
|
|
|
|
NM_000543.5(SMPD1):c.107_108delinsCT (p.Val36Ala)
|
rs2134005319
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
|
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.107_130del (p.Val36_Leu43del)
|
rs550067660
|
|
|
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
|
|
|
|
NM_000543.5(SMPD1):c.1083C>A (p.Arg361=)
|
|
|
|
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)
|
rs2134013368
|
|
|
NM_000543.5(SMPD1):c.108G>T (p.Val36=)
|
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
|
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])
|
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.1090A>G (p.Arg364Gly)
|
rs1242180535
|
|
|
NM_000543.5(SMPD1):c.1091+13C>G
|
|
|
|
NM_000543.5(SMPD1):c.1091+14G>A
|
|
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
|
NM_000543.5(SMPD1):c.1091+20A>T
|
|
|
|
NM_000543.5(SMPD1):c.1091+8T>G
|
rs1564924727
|
|
|
NM_000543.5(SMPD1):c.1091+8del
|
rs1475406727
|
|
|
NM_000543.5(SMPD1):c.1091+9C>G
|
rs143612450
|
|
|
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
|
|
|
|
NM_000543.5(SMPD1):c.1092-10_1092-3dup
|
|
|
|
NM_000543.5(SMPD1):c.1092-14T>A
|
|
|
|
NM_000543.5(SMPD1):c.1092-18_1092-17del
|
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
|
NM_000543.5(SMPD1):c.1092-7G>A
|
rs1848012858
|
|
|
NM_000543.5(SMPD1):c.1092-9T>C
|
|
|
|
NM_000543.5(SMPD1):c.1098G>A (p.Gly366=)
|
|
|
|
NM_000543.5(SMPD1):c.1098G>C (p.Gly366=)
|
|
|
|
NM_000543.5(SMPD1):c.10T>C (p.Tyr4His)
|
rs1400503556
|
|
|
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
|
|
|
|
NM_000543.5(SMPD1):c.1101G>A (p.Gly367=)
|
|
|
|
NM_000543.5(SMPD1):c.1101G>C (p.Gly367=)
|
rs1302267359
|
|
|
NM_000543.5(SMPD1):c.1101del (p.Phe368fs)
|
rs1422720020
|
|
|
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.1108dup (p.Ala370fs)
|
rs1590743683
|
|
|
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs)
|
rs1847863441
|
|
|
NM_000543.5(SMPD1):c.1110T>C (p.Ala370=)
|
rs2134017024
|
|
|
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.1117C>T (p.Pro373Ser)
|
rs1342372980
|
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
|
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)
|
rs1848015403
|
|
|
NM_000543.5(SMPD1):c.1122C>T (p.Tyr374=)
|
rs1848015403
|
|
|
NM_000543.5(SMPD1):c.1125C>G (p.Pro375=)
|
|
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
|
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)
|
rs369088417
|
|
|
NM_000543.5(SMPD1):c.1137C>T (p.Leu379=)
|
rs1848016999
|
|
|
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu)
|
rs71467507
|
|
|
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val)
|
rs71467507
|
|
|
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
|
|
|
|
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.1149T>C (p.Asn383=)
|
|
|
|
NM_000543.5(SMPD1):c.114G>T (p.Ala38=)
|
rs1195507316
|
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
|
NM_000543.5(SMPD1):c.1151del (p.Met384fs)
|
rs2134017306
|
|
|
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)
|
rs120074121
|
|
|
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.115C>T (p.Leu39=)
|
rs1847864154
|
|
|
NM_000543.5(SMPD1):c.1167T>C (p.Arg389=)
|
rs1162794351
|
|
|
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)
|
rs1162794351
|
|
|
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
|
|
|
|
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)
|
rs2134017443
|
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
|
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1182C>A (p.Leu394=)
|
rs2134017489
|
|
|
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)
|
rs1299899778
|
|
|
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=)
|
rs766418804
|
|
|
NM_000543.5(SMPD1):c.1194C>T (p.Ser398=)
|
rs967970847
|
|
|
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
|
|
|
|
NM_000543.5(SMPD1):c.1203C>G (p.Pro401=)
|
|
|
|
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
|
|
|
|
NM_000543.5(SMPD1):c.1206A>G (p.Ala402=)
|
rs2134017637
|
|
|
NM_000543.5(SMPD1):c.120G>T (p.Ala40=)
|
|
|
|
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter)
|
rs2134017711
|
|
|
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
|
|
|
|
NM_000543.5(SMPD1):c.1224G>A (p.Leu408=)
|
rs1448718304
|
|
|
NM_000543.5(SMPD1):c.1227G>A (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.1227G>C (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.1227G>T (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
|
|
|
|
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
|
rs34555120
|
|
|
NM_000543.5(SMPD1):c.1242T>A (p.Ala414=)
|
|
|
|
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
|
|
|
|
NM_000543.5(SMPD1):c.1251T>C (p.Asp417=)
|
rs2134017998
|
|
|
NM_000543.5(SMPD1):c.1254A>G (p.Arg418=)
|
rs2134018038
|
|
|
NM_000543.5(SMPD1):c.1257A>C (p.Gly419=)
|
rs2134018068
|
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
|
NM_000543.5(SMPD1):c.1263+9C>T
|
|
|
|
NM_000543.5(SMPD1):c.1264-10T>C
|
rs2134019281
|
|
|
NM_000543.5(SMPD1):c.1264-14del
|
|
|
|
NM_000543.5(SMPD1):c.1264-19C>G
|
|
|
|
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.1264-4C>T
|
|
|
|
NM_000543.5(SMPD1):c.1264-5A>G
|
rs538875655
|
|
|
NM_000543.5(SMPD1):c.1264-7del
|
rs2134019299
|
|
|
NM_000543.5(SMPD1):c.1264-9C>T
|
|
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
|
NM_000543.5(SMPD1):c.126G>T (p.Ala42=)
|
|
|
|
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del)
|
rs1554933847
|
|
|
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
|
|
|
|
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.1290A>G (p.Pro430=)
|
|
|
|
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)
|
rs1848042860
|
|
|
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
|
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
|
|
|
|
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9])
|
rs1554933850
|
|
|
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)
|
rs1848043657
|
|
|
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
|
|
|
|
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)
|
rs267607073
|
|
|
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
|
|
|
|
NM_000543.5(SMPD1):c.1323T>C (p.Tyr441=)
|
rs2134019686
|
|
|
NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)
|
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
|
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro)
|
rs377609894
|
|
|
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu)
|
rs377609894
|
|
|
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
|
|
|
|
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
|
|
|
|
NM_000543.5(SMPD1):c.1340+11G>T
|
|
|
|
NM_000543.5(SMPD1):c.1340+17G>C
|
|
|
|
NM_000543.5(SMPD1):c.1340+18G>A
|
|
|
|
NM_000543.5(SMPD1):c.1340+20G>A
|
|
|
|
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.1340+9G>C
|
rs2134019834
|
|
|
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
|
NM_000543.5(SMPD1):c.1341-10_1429dup
|
rs1554935254
|
|
|
NM_000543.5(SMPD1):c.1341-12C>T
|
|
|
|
NM_000543.5(SMPD1):c.1341-13A>G
|
|
|
|
NM_000543.5(SMPD1):c.1341-15del
|
|
|
|
NM_000543.5(SMPD1):c.1341-19T>C
|
|
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
|
NM_000543.5(SMPD1):c.1341-20A>G
|
|
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
|
NM_000543.5(SMPD1):c.1341-6G>T
|
rs2134020897
|
|
|
NM_000543.5(SMPD1):c.1341-7T>C
|
|
|
|
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
|
|
|
|
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val)
|
rs2134021009
|
|
|
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
|
|
|
|
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
|
|
|
|
NM_000543.5(SMPD1):c.135G>A (p.Leu45=)
|
|
|
|
NM_000543.5(SMPD1):c.135G>T (p.Leu45=)
|
rs150867628
|
|
|
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter)
|
rs2134021058
|
|
|
NM_000543.5(SMPD1):c.1371T>C (p.Phe457=)
|
rs765658453
|
|
|
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.1380del (p.His461fs)
|
rs1848061158
|
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
|
NM_000543.5(SMPD1):c.1386G>C (p.Val462=)
|
rs763521056
|
|
|
NM_000543.5(SMPD1):c.138G>A (p.Ala46=)
|
rs200763765
|
|
|
NM_000543.5(SMPD1):c.138G>C (p.Ala46=)
|
rs200763765
|
|
|
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
|
|
|
|
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>C (p.Tyr469Ser)
|
rs267607074
|
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
|
NM_000543.5(SMPD1):c.1407T>C (p.Tyr469=)
|
rs2134021313
|
|
|
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
|
|
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
|
NM_000543.5(SMPD1):c.1422G>A (p.Leu474=)
|
|
|
|
NM_000543.5(SMPD1):c.1426C>A (p.Arg476=)
|
rs182812968
|
|
|
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.1440A>C (p.Val480=)
|
|
|
|
NM_000543.5(SMPD1):c.1443C>T (p.Ala481=)
|
|
|
|
NM_000543.5(SMPD1):c.1447C>T (p.Leu483=)
|
|
|
|
NM_000543.5(SMPD1):c.1449G>A (p.Leu483=)
|
|
|
|
NM_000543.5(SMPD1):c.144T>G (p.Ala48=)
|
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
|
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
|
|
|
|
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.145_150del (p.Leu49_Ser50del)
|
rs1382534368
|
|
|
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
|
|
|
|
NM_000543.5(SMPD1):c.1464T>A (p.Thr488=)
|
rs2134021666
|
|
|
NM_000543.5(SMPD1):c.1467C>G (p.Thr489=)
|
|
|
|
NM_000543.5(SMPD1):c.1467C>T (p.Thr489=)
|
rs1848065214
|
|
|
NM_000543.5(SMPD1):c.1470C>T (p.Tyr490=)
|
rs1848065468
|
|
|
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.1473C>A (p.Ile491=)
|
|
|
|
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
|
|
|
|
NM_000543.5(SMPD1):c.147G>A (p.Leu49=)
|
|
|
|
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
|
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
|
NM_000543.5(SMPD1):c.1486+10G>A
|
rs2134021948
|
|
|
NM_000543.5(SMPD1):c.1486+11dup
|
|
|
|
NM_000543.5(SMPD1):c.1486+17G>T
|
|
|
|
NM_000543.5(SMPD1):c.1486+18G>C
|
|
|
|
NM_000543.5(SMPD1):c.1486+19A>G
|
|
|
|
NM_000543.5(SMPD1):c.1486+1G>T
|
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
|
NM_000543.5(SMPD1):c.1486+6_1486+9del
|
rs1389809925
|
|
|
NM_000543.5(SMPD1):c.1486+7G>A
|
rs748435634
|
|
|
NM_000543.5(SMPD1):c.1487-11C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-13C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-14C>G
|
|
|
|
NM_000543.5(SMPD1):c.1487-15C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-19C>A
|
|
|
|
NM_000543.5(SMPD1):c.1487-19C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-1G>A
|
rs2134022652
|
|
|
NM_000543.5(SMPD1):c.1487-4_1499del
|
|
|
|
NM_000543.5(SMPD1):c.1487-5T>C
|
|
|
|
NM_000543.5(SMPD1):c.1488T>C (p.Gly496=)
|
|
|
|
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.1491_1503del (p.Gly496_Tyr497insTer)
|
rs875989834
|
|
|
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.1497_1498inv (p.Tyr500His)
|
|
|
|
NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn)
|
rs771336819
|
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
|
NM_000543.5(SMPD1):c.1509T>C (p.Asp503=)
|
|
|
|
NM_000543.5(SMPD1):c.150T>C (p.Ser50=)
|
rs1847868322
|
|
|
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.1518C>T (p.Tyr506=)
|
|
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
|
NM_000543.5(SMPD1):c.1521C>G (p.Ser507=)
|
rs149423664
|
|
|
NM_000543.5(SMPD1):c.1524G>A (p.Gly508=)
|
rs1312013224
|
|
|
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
|
rs764772735
|
|
|
NM_000543.5(SMPD1):c.1533C>T (p.His511=)
|
rs540422105
|
|
|
NM_000543.5(SMPD1):c.1539C>T (p.Val513=)
|
rs368806984
|
|
|
NM_000543.5(SMPD1):c.153C>T (p.Asp51=)
|
|
|
|
NM_000543.5(SMPD1):c.1542G>C (p.Leu514=)
|
|
|
|
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
|
|
|
|
NM_000543.5(SMPD1):c.1545C>T (p.Asp515=)
|
rs2134023030
|
|
|
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
|
|
|
|
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)
|
rs754979734
|
|
|
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
|
|
|
|
NM_000543.5(SMPD1):c.1548T>C (p.His516=)
|
rs1590747902
|
|
|
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln)
|
rs1590747902
|
|
|
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
|
rs752679988
|
|
|
NM_000543.5(SMPD1):c.1554C>T (p.Thr518=)
|
|
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
|
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=)
|
rs756192072
|
|
|
NM_000543.5(SMPD1):c.1563G>A (p.Leu521=)
|
rs749496647
|
|
|
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
|
|
|
|
NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)
|
|
|
|
NM_000543.5(SMPD1):c.1569G>C (p.Leu523=)
|
rs1848085572
|
|
|
NM_000543.5(SMPD1):c.156T>C (p.Ser52=)
|
|
|
|
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
|
|
|
|
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
|
|
|
|
NM_000543.5(SMPD1):c.1572C>G (p.Thr524=)
|
rs376815723
|
|
|
NM_000543.5(SMPD1):c.1572C>T (p.Thr524=)
|
|
|
|
NM_000543.5(SMPD1):c.1576del (p.Ala526fs)
|
rs2134023240
|
|
|
NM_000543.5(SMPD1):c.1581C>T (p.Asn527=)
|
|
|
|
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs)
|
rs1848086376
|
|
|
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
|
|
|
|
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly)
|
rs2134023371
|
|
|
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
|
|
|
|
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.1605G>A (p.Trp535Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter)
|
rs1848088118
|
|
|
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)
|
rs886048447
|
|
|
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=)
|
rs1181161932
|
|
|
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.162T>C (p.Val54=)
|
|
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
|
NM_000543.5(SMPD1):c.1635T>C (p.Tyr545=)
|
rs1403217094
|
|
|
NM_000543.5(SMPD1):c.1638G>A (p.Gly546=)
|
|
|
|
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)
|
rs2134023610
|
|
|
NM_000543.5(SMPD1):c.1641G>A (p.Leu547=)
|
|
|
|
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs)
|
rs2134023663
|
|
|
NM_000543.5(SMPD1):c.1644C>A (p.Pro548=)
|
rs2134023668
|
|
|
NM_000543.5(SMPD1):c.1644C>T (p.Pro548=)
|
rs2134023668
|
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
|
NM_000543.5(SMPD1):c.1647C>T (p.Asn549=)
|
rs1380885433
|
|
|
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
|
|
|
|
NM_000543.5(SMPD1):c.1660G>C (p.Ala554Pro)
|
rs758811926
|
|
|
NM_000543.5(SMPD1):c.1662C>T (p.Ala554=)
|
rs2134023747
|
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
|
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
|
|
|
|
NM_000543.5(SMPD1):c.1672C>T (p.Leu558=)
|
rs772613617
|
|
|
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)
|
rs875989836
|
|
|
NM_000543.5(SMPD1):c.1674G>A (p.Leu558=)
|
|
|
|
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu)
|
rs149939736
|
|
|
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
|
|
|
|
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)
|
rs2134006149
|
|
|
NM_000543.5(SMPD1):c.1683C>T (p.Arg561=)
|
|
|
|
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
|
|
|
|
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>A (p.Asp565Asn)
|
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
|
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)
|
rs943865463
|
|
|
NM_000543.5(SMPD1):c.1710G>A (p.Gln570=)
|
rs767055403
|
|
|
NM_000543.5(SMPD1):c.1713C>T (p.Thr571=)
|
rs1590748569
|
|
|
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.171T>C (p.Ala57=)
|
|
|
|
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
|
|
|
|
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
|
|
|
|
NM_000543.5(SMPD1):c.1734G>A (p.Lys578=)
|
|
|
|
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)
|
rs747342458
|
|
|
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
|
|
|
|
NM_000543.5(SMPD1):c.1740C>T (p.His580=)
|
|
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
|
NM_000543.5(SMPD1):c.174G>C (p.Pro58=)
|
|
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
|
NM_000543.5(SMPD1):c.1761C>T (p.Gly587=)
|
|
|
|
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
|
|
|
|
NM_000543.5(SMPD1):c.1770C>T (p.Cys590=)
|
rs1590748718
|
|
|
NM_000543.5(SMPD1):c.1773T>A (p.Arg591=)
|
|
|
|
NM_000543.5(SMPD1):c.1776G>A (p.Leu592=)
|
|
|
|
NM_000543.5(SMPD1):c.1776G>T (p.Leu592=)
|
rs1848098515
|
|
|
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.1785T>G (p.Leu595=)
|
rs2134024361
|
|
|
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.1791C>T (p.Ala597=)
|
rs2134024385
|
|
|
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg)
|
rs1554935731
|
|
|
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe)
|
rs138531908
|
|
|
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
|
rs1848099900
|
|
|
NM_000543.5(SMPD1):c.1806T>C (p.Arg602=)
|
rs1320920094
|
|
|
NM_000543.5(SMPD1):c.1809T>A (p.Ala603=)
|
|
|
|
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)
|
rs2134024509
|
|
|
NM_000543.5(SMPD1):c.1815C>T (p.Ser605=)
|
rs2134024538
|
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
|
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=)
|
rs1564928040
|
|
|
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
|
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
|
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
|
|
|
|
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu)
|
rs140269316
|
|
|
NM_000543.5(SMPD1):c.1830C>A (p.Arg610=)
|
|
|
|
NM_000543.5(SMPD1):c.1854C>T (p.Leu618=)
|
|
|
|
NM_000543.5(SMPD1):c.186C>T (p.His62=)
|
rs1235402970
|
|
|
NM_000543.5(SMPD1):c.1881G>A (p.Arg627=)
|
|
|
|
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
|
|
|
|
NM_000543.5(SMPD1):c.1887G>A (p.Leu629=)
|
|
|
|
NM_000543.5(SMPD1):c.1890T>C (p.Phe630=)
|
rs1848105786
|
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
|
NM_000543.5(SMPD1):c.193dup (p.Ser65fs)
|
rs1057517098
|
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
|
NM_000543.5(SMPD1):c.199dup (p.Gln67fs)
|
rs1847871015
|
|
|
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
|
|
|
|
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs)
|
rs1847871996
|
|
|
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs)
|
rs2134006350
|
|
|
NM_000543.5(SMPD1):c.210T>C (p.Pro70=)
|
|
|
|
NM_000543.5(SMPD1):c.213C>T (p.Ala71=)
|
|
|
|
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
|
|
|
|
NM_000543.5(SMPD1):c.234C>G (p.Pro78=)
|
|
|
|
NM_000543.5(SMPD1):c.248del (p.Val83fs)
|
|
|
|
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
|
|
|
|
NM_000543.5(SMPD1):c.255G>A (p.Gly85=)
|
rs1554933929
|
|
|
NM_000543.5(SMPD1):c.255G>C (p.Gly85=)
|
rs1554933929
|
|
|
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter)
|
rs2134006592
|
|
|
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp)
|
rs1847877445
|
|
|
NM_000543.5(SMPD1):c.273C>T (p.Cys91=)
|
rs1847877445
|
|
|
NM_000543.5(SMPD1):c.276A>G (p.Pro92=)
|
rs2134006684
|
|
|
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val)
|
rs913533196
|
|
|
NM_000543.5(SMPD1):c.285A>G (p.Lys95=)
|
|
|
|
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.297C>T (p.Thr99=)
|
rs146630228
|
|
|
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp)
|
rs2134006790
|
|
|
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
|
|
|
|
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
|
|
|
|
NM_000543.5(SMPD1):c.309C>G (p.Leu103=)
|
rs1847879646
|
|
|
NM_000543.5(SMPD1):c.309C>T (p.Leu103=)
|
|
|
|
NM_000543.5(SMPD1):c.30G>A (p.Gln10=)
|
rs1847855057
|
|
|
NM_000543.5(SMPD1):c.312G>A (p.Gly104=)
|
rs757958025
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
|
NM_000543.5(SMPD1):c.315G>A (p.Leu105=)
|
rs2134006862
|
|
|
NM_000543.5(SMPD1):c.315G>C (p.Leu105=)
|
rs2134006862
|
|
|
NM_000543.5(SMPD1):c.318+13G>C
|
|
|
|
NM_000543.5(SMPD1):c.318+20C>T
|
|
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
|
NM_000543.5(SMPD1):c.318+7A>C
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.318+7A>G
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.318+7A>T
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.319-12C>T
|
|
|
|
NM_000543.5(SMPD1):c.319-13C>G
|
|
|
|
NM_000543.5(SMPD1):c.319-16G>A
|
|
|
|
NM_000543.5(SMPD1):c.319-16dup
|
|
|
|
NM_000543.5(SMPD1):c.319-17C>G
|
|
|
|
NM_000543.5(SMPD1):c.319-17C>T
|
|
|
|
NM_000543.5(SMPD1):c.319-20A>G
|
|
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
|
NM_000543.5(SMPD1):c.319-7A>G
|
rs757091200
|
|
|
NM_000543.5(SMPD1):c.319-9C>T
|
|
|
|
NM_000543.5(SMPD1):c.333G>A (p.Val111=)
|
rs2134008523
|
|
|
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
|
|
|
|
NM_000543.5(SMPD1):c.339C>A (p.Arg113=)
|
|
|
|
NM_000543.5(SMPD1):c.339C>G (p.Arg113=)
|
|
|
|
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
|
|
|
|
NM_000543.5(SMPD1):c.348C>A (p.Ser116=)
|
|
|
|
NM_000543.5(SMPD1):c.348C>G (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.354C>T (p.Ala118=)
|
rs2134008712
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
|
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
|
|
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
|
NM_000543.5(SMPD1):c.363G>C (p.Leu121=)
|
rs2134008743
|
|
|
NM_000543.5(SMPD1):c.363G>T (p.Leu121=)
|
|
|
|
NM_000543.5(SMPD1):c.36C>T (p.Cys12=)
|
rs767287886
|
|
|
NM_000543.5(SMPD1):c.375G>A (p.Leu125=)
|
|
|
|
NM_000543.5(SMPD1):c.378G>A (p.Lys126=)
|
|
|
|
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr)
|
rs1847903513
|
|
|
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
|
|
|
|
NM_000543.5(SMPD1):c.394G>A (p.Val132Met)
|
rs189859589
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
|
NM_000543.5(SMPD1):c.402A>G (p.Gln134=)
|
|
|
|
NM_000543.5(SMPD1):c.405C>T (p.Ser135=)
|
rs2134009009
|
|
|
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.420T>C (p.Phe140=)
|
|
|
|
NM_000543.5(SMPD1):c.429C>T (p.Asp143=)
|
rs2134009167
|
|
|
NM_000543.5(SMPD1):c.435G>A (p.Val145=)
|
rs1847906589
|
|
|
NM_000543.5(SMPD1):c.435G>T (p.Val145=)
|
|
|
|
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
|
|
|
|
NM_000543.5(SMPD1):c.439G>A (p.Val147Met)
|
rs936971458
|
|
|
NM_000543.5(SMPD1):c.43del (p.Ser15fs)
|
rs2134004628
|
|
|
NM_000543.5(SMPD1):c.441G>T (p.Val147=)
|
|
|
|
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.456G>A (p.Val152=)
|
rs2134009327
|
|
|
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
|
|
|
|
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.477_483dup (p.Leu162fs)
|
rs2134009391
|
|
|
NM_000543.5(SMPD1):c.481C>T (p.Leu161=)
|
rs1283765997
|
|
|
NM_000543.5(SMPD1):c.486C>A (p.Leu162=)
|
|
|
|
NM_000543.5(SMPD1):c.486C>G (p.Leu162=)
|
rs758313663
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
|
NM_000543.5(SMPD1):c.499del (p.Cys167fs)
|
rs1847910379
|
|
|
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
|
|
|
|
NM_000543.5(SMPD1):c.504dup (p.His169fs)
|
rs2134009550
|
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
|
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
|
|
|
|
NM_000543.5(SMPD1):c.516T>C (p.Ile172=)
|
|
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
|
NM_000543.5(SMPD1):c.519C>T (p.Phe173=)
|
|
|
|
NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs)
|
rs875989833
|
|
|
NM_000543.5(SMPD1):c.522A>C (p.Ser174=)
|
rs2134009687
|
|
|
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.531C>T (p.Asn177=)
|
|
|
|
NM_000543.5(SMPD1):c.534C>A (p.Ile178=)
|
rs142147633
|
|
|
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe)
|
rs1215635747
|
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
|
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
|
|
|
|
NM_000543.5(SMPD1):c.564C>G (p.Pro188=)
|
|
|
|
NM_000543.5(SMPD1):c.564C>T (p.Pro188=)
|
rs764993348
|
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
|
NM_000543.5(SMPD1):c.564dup (p.Lys189fs)
|
rs756366019
|
|
|
NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs)
|
rs875989835
|
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
|
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
|
|
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
|
NM_000543.5(SMPD1):c.572del (p.Pro191fs)
|
rs1590738506
|
|
|
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer)
|
rs1590738506
|
|
|
NM_000543.5(SMPD1):c.573T>C (p.Pro191=)
|
rs751653824
|
|
|
NM_000543.5(SMPD1):c.576C>T (p.Ser192=)
|
rs1448298550
|
|
|
NM_000543.5(SMPD1):c.579C>T (p.Pro193=)
|
|
|
|
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)
|
rs1847857299
|
|
|
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
|
|
|
|
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs)
|
rs2134010245
|
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
|
NM_000543.5(SMPD1):c.585C>T (p.Ala195=)
|
rs2134010416
|
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
|
NM_000543.5(SMPD1):c.594C>G (p.Ala198=)
|
|
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
|
NM_000543.5(SMPD1):c.603C>T (p.Ser201=)
|
rs2134010544
|
|
|
NM_000543.5(SMPD1):c.609C>T (p.Ile203=)
|
rs746370637
|
|
|
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
|
|
|
|
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
|
|
|
|
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe)
|
rs1690892137
|
|
|
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)
|
rs2134010621
|
|
|
NM_000543.5(SMPD1):c.612C>G (p.Leu204=)
|
|
|
|
NM_000543.5(SMPD1):c.612C>T (p.Leu204=)
|
|
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
|
NM_000543.5(SMPD1):c.615C>T (p.Phe205=)
|
rs2134010647
|
|
|
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.625C>T (p.Leu209=)
|
|
|
|
NM_000543.5(SMPD1):c.625del (p.Leu209fs)
|
rs1847921591
|
|
|
NM_000543.5(SMPD1):c.627G>A (p.Leu209=)
|
rs200443318
|
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
|
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)
|
rs1847921909
|
|
|
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
|
|
|
|
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
|
rs772889728
|
|
|
NM_000543.5(SMPD1):c.642C>T (p.Asp214=)
|
|
|
|
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)
|
rs1590738910
|
|
|
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
|
|
|
|
NM_000543.5(SMPD1):c.654C>T (p.Gly218=)
|
|
|
|
NM_000543.5(SMPD1):c.660C>T (p.Asp220=)
|
|
|
|
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr)
|
rs2134010893
|
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
|
NM_000543.5(SMPD1):c.668G>A (p.Cys223Tyr)
|
rs2134010914
|
|
|
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)
|
rs2134010914
|
|
|
NM_000543.5(SMPD1):c.669T>C (p.Cys223=)
|
|
|
|
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
|
|
|
|
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)
|
rs886048444
|
|
|
NM_000543.5(SMPD1):c.681G>C (p.Leu227=)
|
rs1208751863
|
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
|
NM_000543.5(SMPD1):c.682T>G (p.Cys228Gly)
|
rs1564923612
|
|
|
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
|
|
|
|
NM_000543.5(SMPD1):c.690C>T (p.Arg230=)
|
rs1590739083
|
|
|
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
|
|
|
|
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala)
|
rs1366957686
|
|
|
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
|
rs1847925080
|
|
|
NM_000543.5(SMPD1):c.699T>G (p.Ser233=)
|
|
|
|
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs)
|
rs1847925196
|
|
|
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
|
|
|
|
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
|
|
|
|
NM_000543.5(SMPD1):c.702C>A (p.Gly234=)
|
|
|
|
NM_000543.5(SMPD1):c.708G>T (p.Pro236=)
|
|
|
|
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
|
|
|
|
NM_000543.5(SMPD1):c.723A>G (p.Pro241=)
|
rs1378142751
|
|
|
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)
|
rs1057435197
|
|
|
NM_000543.5(SMPD1):c.726T>C (p.Gly242=)
|
|
|
|
NM_000543.5(SMPD1):c.72C>A (p.Thr24=)
|
rs886043870
|
|
|
NM_000543.5(SMPD1):c.72C>T (p.Thr24=)
|
rs886043870
|
|
|
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.734A>C (p.Tyr245Ser)
|
rs1847928024
|
|
|
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
|
rs1590739350
|
|
|
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
|
|
|
|
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln)
|
rs200763423
|
|
|
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)
|
rs200763423
|
|
|
NM_000543.5(SMPD1):c.747C>T (p.Tyr249=)
|
rs765716943
|
|
|
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.765C>G (p.Pro255=)
|
|
|
|
NM_000543.5(SMPD1):c.765C>T (p.Pro255=)
|
|
|
|
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
|
|
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
|
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
|
|
|
|
NM_000543.5(SMPD1):c.774C>T (p.Thr258=)
|
rs2134011569
|
|
|
NM_000543.5(SMPD1):c.777G>A (p.Leu259=)
|
rs2134011575
|
|
|
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.786G>T (p.Leu262=)
|
|
|
|
NM_000543.5(SMPD1):c.787T>C (p.Leu263=)
|
|
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
|
NM_000543.5(SMPD1):c.795del (p.Leu266fs)
|
rs875989832
|
|
|
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
|
|
|
|
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
|
rs1847932355
|
|
|
NM_000543.5(SMPD1):c.798G>A (p.Leu266=)
|
rs2134011674
|
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
|
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
|
|
|
|
NM_000543.5(SMPD1):c.820del (p.Met274fs)
|
rs2134011809
|
|
|
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)
|
rs1172255199
|
|
|
NM_000543.5(SMPD1):c.825G>A (p.Val275=)
|
rs1847934481
|
|
|
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
|
rs1847934777
|
|
|
NM_000543.5(SMPD1):c.828C>T (p.Tyr276=)
|
rs2134011863
|
|
|
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
|
|
|
|
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
|
|
|
|
NM_000543.5(SMPD1):c.834A>G (p.Thr278=)
|
|
|
|
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)
|
rs1847935299
|
|
|
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)
|
rs2134011919
|
|
|
NM_000543.5(SMPD1):c.840C>T (p.Asp280=)
|
|
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
|
NM_000543.5(SMPD1):c.846C>T (p.Pro282=)
|
rs990064419
|
|
|
NM_000543.5(SMPD1):c.849A>G (p.Ala283=)
|
|
|
|
NM_000543.5(SMPD1):c.84C>G (p.Pro28=)
|
rs577769499
|
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
|
NM_000543.5(SMPD1):c.858C>A (p.Val286=)
|
rs1194457629
|
|
|
NM_000543.5(SMPD1):c.858C>T (p.Val286=)
|
|
|
|
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys)
|
rs1319381364
|
|
|
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
|
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
|
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys)
|
rs797044799
|
|
|
NM_000543.5(SMPD1):c.879C>T (p.Asp293=)
|
rs886048445
|
|
|
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
|
rs1847939431
|
|
|
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
|
|
|
|
NM_000543.5(SMPD1):c.891C>G (p.Ala297=)
|
rs2134012225
|
|
|
NM_000543.5(SMPD1):c.891C>T (p.Ala297=)
|
rs2134012225
|
|
|
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
|
rs1847940504
|
|
|
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del)
|
rs1554934457
|
|
|
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup)
|
rs1554934463
|
|
|
NM_000543.5(SMPD1):c.90C>T (p.Leu30=)
|
rs748793138
|
|
|
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.918G>A (p.Arg306=)
|
|
|
|
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
|
|
|
|
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
|
|
|
|
NM_000543.5(SMPD1):c.925C>T (p.Leu309=)
|
|
|
|
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)
|
rs2134012543
|
|
|
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)
|
rs2134012580
|
|
|
NM_000543.5(SMPD1):c.939A>G (p.Pro313=)
|
rs1847944418
|
|
|
NM_000543.5(SMPD1):c.93T>C (p.Leu31=)
|
rs2134005000
|
|
|
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
|
|
|
|
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
|
|
|
|
NM_000543.5(SMPD1):c.948T>C (p.Pro316=)
|
rs764694813
|
|
|
NM_000543.5(SMPD1):c.948T>G (p.Pro316=)
|
rs764694813
|
|
|
NM_000543.5(SMPD1):c.952G>A (p.Val318Met)
|
rs875989837
|
|
|
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.957T>A (p.Gly319=)
|
rs2134012714
|
|
|
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
|
rs1554933780
|
|
|
NM_000543.5(SMPD1):c.960C>T (p.Asn320=)
|
rs2134012736
|
|
|
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)
|
rs2134012749
|
|
|
NM_000543.5(SMPD1):c.963T>C (p.His321=)
|
rs2134012764
|
|
|
NM_000543.5(SMPD1):c.963del (p.His321fs)
|
|
|
|
NM_000543.5(SMPD1):c.969C>T (p.Ser323=)
|
rs2134012783
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
|
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
|
|
|
|
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer)
|
rs398123480
|
|
|
NM_000543.5(SMPD1):c.993C>G (p.Pro331=)
|
rs2134012879
|
|
|
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_000543.5(SMPD1):c.996C>A (p.Pro332=)
|
|
|
|
NM_000543.5(SMPD1):c.996C>G (p.Pro332=)
|
rs1425916722
|
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
|
NM_000543.5(SMPD1):c.996dup (p.Phe333fs)
|
rs387906289
|
|
|
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
|
|
|
|
NM_000543.5(SMPD1):c.9C>T (p.Arg3=)
|
rs2134004441
|
|
|
NM_006432.4(NPC2):c.-68G>T
|
rs578161135
|
|
|
NM_006432.5(NPC2):c.100A>G (p.Ile34Val)
|
|
|
|
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter)
|
rs2139670174
|
|
|
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
|
|
|
|
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
|
|
|
|
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
|
|
|
|
NM_006432.5(NPC2):c.117G>T (p.Val39=)
|
|
|
|
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
|
|
|
|
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
|
|
|
|
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
|
|
|
|
NM_006432.5(NPC2):c.129del (p.Thr44fs)
|
|
|
|
NM_006432.5(NPC2):c.12G>A (p.Leu4=)
|
rs2139676633
|
|
|
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
|
|
|
|
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
|
|
|
|
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
|
|
|
|
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
|
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
|
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)
|
|
|
|
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe)
|
rs1555345993
|
|
|
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)
|
rs2086712538
|
|
|
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
|
|
|
|
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)
|
|
|
|
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
|
|
|
|
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
|
|
|
|
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)
|
rs2086712337
|
|
|
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
|
|
|
|
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)
|
|
|
|
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter)
|
rs2086712268
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
|
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
|
|
|
|
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
|
|
|
|
NM_006432.5(NPC2):c.190+14G>T
|
|
|
|
NM_006432.5(NPC2):c.190+16T>C
|
|
|
|
NM_006432.5(NPC2):c.190+17C>T
|
|
|
|
NM_006432.5(NPC2):c.190+1G>C
|
|
|
|
NM_006432.5(NPC2):c.191-14T>C
|
|
|
|
NM_006432.5(NPC2):c.191-14dup
|
rs748909227
|
|
|
NM_006432.5(NPC2):c.191-18T>C
|
|
|
|
NM_006432.5(NPC2):c.191-18del
|
|
|
|
NM_006432.5(NPC2):c.191-1G>A
|
|
|
|
NM_006432.5(NPC2):c.191-1_193del
|
rs1555345873
|
|
|
NM_006432.5(NPC2):c.191-4T>A
|
|
|
|
NM_006432.5(NPC2):c.191-7C>G
|
rs2086689980
|
|
|
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro)
|
rs11694
|
|
|
NM_006432.5(NPC2):c.1A>G (p.Met1Val)
|
rs1555346369
|
|
|
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu)
|
rs750426509
|
|
|
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)
|
|
|
|
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)
|
rs2086689501
|
|
|
NM_006432.5(NPC2):c.216C>A (p.Ala72=)
|
rs773861377
|
|
|
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
|
|
|
|
NM_006432.5(NPC2):c.217G>A (p.Val73Met)
|
|
|
|
NM_006432.5(NPC2):c.218del (p.Val73fs)
|
|
|
|
NM_006432.5(NPC2):c.21A>G (p.Thr7=)
|
rs150211005
|
|
|
NM_006432.5(NPC2):c.222G>C (p.Val74=)
|
rs763523833
|
|
|
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)
|
|
|
|
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
|
|
|
|
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)
|
|
|
|
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
|
|
|
|
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
|
|
|
|
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
|
|
|
|
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)
|
|
|
|
NM_006432.5(NPC2):c.25C>T (p.Leu9=)
|
rs1033995785
|
|
|
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser)
|
rs2139668049
|
|
|
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
|
|
|
|
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
|
|
|
|
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
|
|
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
|
NM_006432.5(NPC2):c.27G>A (p.Leu9=)
|
rs1362951124
|
|
|
NM_006432.5(NPC2):c.27G>C (p.Leu9=)
|
rs1362951124
|
|
|
NM_006432.5(NPC2):c.27del (p.Leu10fs)
|
rs80358267
|
|
|
NM_006432.5(NPC2):c.281dup (p.Ser95fs)
|
rs2139668010
|
|
|
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
|
|
|
|
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)
|
|
|
|
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>A (p.Met1Lys)
|
|
|
|
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)
|
rs1555346368
|
|
|
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
|
|
|
|
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)
|
|
|
|
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)
|
rs2086687862
|
|
|
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
|
|
|
|
NM_006432.5(NPC2):c.318C>T (p.Thr106=)
|
rs763613633
|
|
|
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
|
|
|
|
NM_006432.5(NPC2):c.327C>T (p.Tyr109=)
|
rs2139667951
|
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
|
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)
|
rs2086687425
|
|
|
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
|
|
|
|
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
|
|
|
|
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)
|
|
|
|
NM_006432.5(NPC2):c.351C>T (p.Ser117=)
|
rs1183033999
|
|
|
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys)
|
rs80358266
|
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
|
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)
|
rs2086687086
|
|
|
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
|
|
|
|
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
|
|
|
|
NM_006432.5(NPC2):c.363+13A>G
|
|
|
|
NM_006432.5(NPC2):c.363+16_363+18del
|
rs747880187
|
|
|
NM_006432.5(NPC2):c.363+17T>C
|
|
|
|
NM_006432.5(NPC2):c.363+18T>A
|
|
|
|
NM_006432.5(NPC2):c.363+1G>A
|
|
|
|
NM_006432.5(NPC2):c.363+20A>G
|
|
|
|
NM_006432.5(NPC2):c.364-10C>T
|
rs2086648557
|
|
|
NM_006432.5(NPC2):c.364-20T>C
|
|
|
|
NM_006432.5(NPC2):c.364-20T>G
|
|
|
|
NM_006432.5(NPC2):c.364-2A>G
|
rs777654308
|
|
|
NM_006432.5(NPC2):c.364-8T>G
|
rs1352203929
|
|
|
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
|
|
|
|
NM_006432.5(NPC2):c.372G>C (p.Leu124=)
|
rs2139664545
|
|
|
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)
|
|
|
|
NM_006432.5(NPC2):c.375G>A (p.Val125=)
|
rs2139664539
|
|
|
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp)
|
rs1412520435
|
|
|
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)
|
|
|
|
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
|
|
|
|
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
|
|
|
|
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.3G>T (p.Met1Ile)
|
|
|
|
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)
|
|
|
|
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
|
|
|
|
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)
|
rs781255433
|
|
|
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.437A>G (p.Gln146Arg)
|
rs2139664443
|
|
|
NM_006432.5(NPC2):c.441+10T>C
|
|
|
|
NM_006432.5(NPC2):c.441+13G>A
|
|
|
|
NM_006432.5(NPC2):c.441+13G>T
|
|
|
|
NM_006432.5(NPC2):c.441+16G>T
|
|
|
|
NM_006432.5(NPC2):c.441+17G>C
|
|
|
|
NM_006432.5(NPC2):c.441+8T>C
|
|
|
|
NM_006432.5(NPC2):c.441+9A>T
|
rs372464598
|
|
|
NM_006432.5(NPC2):c.442-10A>G
|
|
|
|
NM_006432.5(NPC2):c.442-13A>G
|
|
|
|
NM_006432.5(NPC2):c.442-17G>A
|
|
|
|
NM_006432.5(NPC2):c.442-17G>C
|
|
|
|
NM_006432.5(NPC2):c.442-1G>A
|
rs1555345562
|
|
|
NM_006432.5(NPC2):c.442-4A>G
|
rs114950106
|
|
|
NM_006432.5(NPC2):c.442-8A>G
|
|
|
|
NM_006432.5(NPC2):c.442-9C>T
|
|
|
|
NM_006432.5(NPC2):c.453C>T (p.Leu151=)
|
rs766378122
|
|
|
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)
|
rs2086642019
|
|
|
NM_006432.5(NPC2):c.51C>A (p.Ala17=)
|
rs1260452199
|
|
|
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
|
|
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
|
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)
|
|
|
|
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
|
|
|
|
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
|
|
|
|
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
|
|
|
|
NM_006432.5(NPC2):c.79dup (p.Cys27fs)
|
rs767899043
|
|
|
NM_006432.5(NPC2):c.82+10A>C
|
|
|
|
NM_006432.5(NPC2):c.82+12G>A
|
|
|
|
NM_006432.5(NPC2):c.82+13C>A
|
|
|
|
NM_006432.5(NPC2):c.82+15C>A
|
|
|
|
NM_006432.5(NPC2):c.82+15C>T
|
|
|
|
NM_006432.5(NPC2):c.82+16G>A
|
|
|
|
NM_006432.5(NPC2):c.82+2T>C
|
rs879253740
|
|
|
NM_006432.5(NPC2):c.82+6C>T
|
rs1450006465
|
|
|
NM_006432.5(NPC2):c.82+6dup
|
rs2139676497
|
|
|
NM_006432.5(NPC2):c.82+8C>G
|
|
|
|
NM_006432.5(NPC2):c.83-11T>C
|
|
|
|
NM_006432.5(NPC2):c.83-15A>G
|
rs1405062063
|
|
|
NM_006432.5(NPC2):c.83-19A>G
|
rs2139670208
|
|
|
NM_006432.5(NPC2):c.83-20A>G
|
|
|
|
NM_006432.5(NPC2):c.83-5T>C
|
|
|
|
NM_006432.5(NPC2):c.83-8T>G
|
|
|
|
NM_006432.5(NPC2):c.91del (p.Asp31fs)
|
|
|
|
NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)
|
|
|
|
NM_006432.5(NPC2):c.9C>T (p.Phe3=)
|
rs1300524708
|
|
|
NPC1, IVS16, G-A, -82
|
|
|