NM_000271.5(NPC1):c.882-288T>C
|
rs1788760
|
0.75970
|
NM_000271.5(NPC1):c.2514+163T>C
|
rs1788821
|
0.74853
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000271.5(NPC1):c.1554-238A>G
|
rs1652343
|
0.59569
|
NM_000271.5(NPC1):c.2605-70A>G
|
rs7239575
|
0.56022
|
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.3042-158T>C
|
rs12964689
|
0.48886
|
NM_000271.5(NPC1):c.1757+60G>A
|
rs2435307
|
0.46769
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_000271.5(NPC1):c.3478-177A>G
|
rs11659341
|
0.13319
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000271.5(NPC1):c.1554-681C>T
|
rs61707929
|
0.12919
|
NM_000271.4(NPC1):c.-238C>G
|
rs8099071
|
0.11990
|
NM_000271.5(NPC1):c.3246-242T>G
|
rs71360526
|
0.11933
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_000271.5(NPC1):c.-22A>C
|
rs2303880
|
0.08768
|
NM_000271.5(NPC1):c.1947+123T>G
|
rs3745023
|
0.07660
|
NM_000271.5(NPC1):c.1654+58T>C
|
rs9963518
|
0.03581
|
NM_000271.5(NPC1):c.2605-182G>T
|
rs73392118
|
0.02681
|
NC_000018.10:g.23586828C>T
|
rs8083325
|
0.02479
|
NM_000271.5(NPC1):c.1554-1021A>T
|
rs73392141
|
0.02008
|
NM_000271.5(NPC1):c.2131-306C>T
|
rs2510343
|
0.01805
|
NM_000271.5(NPC1):c.181-290T>C
|
rs76327124
|
0.01790
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000271.5(NPC1):c.956-61C>T
|
rs58319130
|
0.01514
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_000271.5(NPC1):c.2911+339C>T
|
rs2282558
|
0.01491
|
NM_000271.5(NPC1):c.3754+203G>T
|
rs73392108
|
0.01489
|
NM_000271.5(NPC1):c.1554-186T>G
|
rs112768834
|
0.01474
|
NM_000271.5(NPC1):c.1554-1249G>A
|
rs78181160
|
0.01412
|
NM_000271.5(NPC1):c.2911+72C>T
|
rs56003892
|
0.01368
|
NM_000271.5(NPC1):c.2245+114_2245+115insC
|
rs552028482
|
0.01319
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
NM_000271.5(NPC1):c.2605-149G>A
|
rs113027965
|
0.01297
|
NM_000271.5(NPC1):c.3754+108T>G
|
rs112570895
|
0.01295
|
NM_000271.5(NPC1):c.3591+265C>T
|
rs117709214
|
0.01281
|
NM_000271.5(NPC1):c.3246-190T>G
|
rs151243029
|
0.01258
|
NM_000271.5(NPC1):c.1654+250C>T
|
rs7236499
|
0.01257
|
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)
|
rs7227375
|
0.01251
|
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.1326+130_1326+131del
|
rs145971241
|
0.01125
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000271.5(NPC1):c.181-88A>G
|
rs76233399
|
0.01024
|
NM_000271.5(NPC1):c.1654+311C>T
|
rs115723627
|
0.00958
|
NM_000271.5(NPC1):c.3592-208G>A
|
rs138816633
|
0.00909
|
NM_000271.5(NPC1):c.-32C>T
|
rs114070977
|
0.00885
|
NM_000271.5(NPC1):c.3246-46C>T
|
rs117851153
|
0.00718
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
NM_000271.5(NPC1):c.1553+327G>A
|
rs148115026
|
0.00667
|
NM_000271.5(NPC1):c.632-199G>A
|
rs148583874
|
0.00636
|
NM_000271.5(NPC1):c.881+196A>G
|
rs140270424
|
0.00636
|
NM_000271.5(NPC1):c.2130+56A>G
|
rs145377000
|
0.00530
|
NM_000271.5(NPC1):c.881+153A>G
|
rs76772374
|
0.00514
|
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.1554-871G>A
|
rs138123644
|
0.00431
|
NM_000271.5(NPC1):c.463+100T>C
|
rs56266324
|
0.00403
|
NM_000271.5(NPC1):c.464-253C>T
|
rs55740456
|
0.00403
|
NM_000271.5(NPC1):c.3592-148A>G
|
rs146219325
|
0.00378
|
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_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000271.5(NPC1):c.463+83C>T
|
rs144947594
|
0.00360
|
NM_000271.5(NPC1):c.1554-877C>G
|
rs149568886
|
0.00356
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000271.5(NPC1):c.1326+293A>G
|
rs114021368
|
0.00347
|
NM_000271.5(NPC1):c.1947+180G>T
|
rs138946913
|
0.00347
|
NM_000271.5(NPC1):c.3245+130G>A
|
rs141281676
|
0.00346
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_000271.5(NPC1):c.58-273C>T
|
rs538915777
|
0.00328
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_000271.5(NPC1):c.2796-133T>C
|
rs150105230
|
0.00298
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_000271.5(NPC1):c.58-105C>T
|
rs148442560
|
0.00283
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
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_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000271.5(NPC1):c.631+17C>T
|
rs115397659
|
0.00083
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)
|
rs141892620
|
0.00005
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)
|
rs774333145
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)
|
rs120074134
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)
|
rs751951695
|
0.00001
|
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser)
|
rs201236716
|
0.00001
|
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val)
|
rs140786703
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2778G>A (p.Ala926=)
|
rs754772486
|
0.00001
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.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.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3592-9_3592-8del
|
rs1376430791
|
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.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.58G>T (p.Val20Leu)
|
rs1444708311
|
0.00001
|
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs)
|
rs1555637255
|
|
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.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
NM_000271.5(NPC1):c.1326+176_1326+178del
|
rs142916225
|
|
NM_000271.5(NPC1):c.1553+152del
|
rs11340795
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
NM_000271.5(NPC1):c.1554-880C>G
|
rs1788762
|
|
NM_000271.5(NPC1):c.1655-233_1655-232del
|
rs34182768
|
|
NM_000271.5(NPC1):c.1655-248_1655-245dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.1655-248_1655-246dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.1655-248_1655-247dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.1655-248dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.181-268_181-265del
|
rs71825108
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGT
|
rs72283949
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+90T>C
|
rs35047242
|
|
NM_000271.5(NPC1):c.1948-164C>A
|
rs1652372
|
|
NM_000271.5(NPC1):c.1948-164C>G
|
rs1652372
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2103C>G (p.Asn701Lys)
|
rs7227375
|
|
NM_000271.5(NPC1):c.2131-14_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2245+109dup
|
rs34563465
|
|
NM_000271.5(NPC1):c.2245+121_2245+122insC
|
rs71373350
|
|
NM_000271.5(NPC1):c.2245+121_2245+122insCTTTTTTTTTTTTTC
|
rs71373350
|
|
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs)
|
rs1057518613
|
|
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg)
|
rs1012718245
|
|
NM_000271.5(NPC1):c.2495A>T (p.Asp832Val)
|
|
|
NM_000271.5(NPC1):c.2604+15dup
|
rs746440359
|
|
NM_000271.5(NPC1):c.2604+30del
|
rs746440359
|
|
NM_000271.5(NPC1):c.2683G>A (p.Glu895Lys)
|
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2712del (p.Gln905fs)
|
rs1555633309
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2911+224C>T
|
rs59792558
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
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.3042-159G>C
|
rs1788822
|
|
NM_000271.5(NPC1):c.3042-205dup
|
rs562891401
|
|
NM_000271.5(NPC1):c.3065C>A (p.Ala1022Glu)
|
rs2033609417
|
|
NM_000271.5(NPC1):c.3188G>A (p.Ser1063Asn)
|
|
|
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)
|
rs754323286
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3246-309_3246-306del
|
rs61583208
|
|
NM_000271.5(NPC1):c.3246-312dup
|
rs61583208
|
|
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs)
|
rs2145351616
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3478-119C>A
|
rs141606629
|
|
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs)
|
rs886041356
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
NM_000271.5(NPC1):c.3755-72G>T
|
rs144276146
|
|
NM_000271.5(NPC1):c.463+190G>A
|
rs113021746
|
|
NM_000271.5(NPC1):c.494C>T (p.Ala165Val)
|
rs1555638953
|
|
NM_000271.5(NPC1):c.526del (p.Leu176fs)
|
rs1131691558
|
|
NM_000271.5(NPC1):c.58-281_58-278del
|
rs146504010
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.881+261_881+262dup
|
rs112490232
|
|
NM_000271.5(NPC1):c.881+37C>G
|
rs142700149
|
|
NM_000271.5(NPC1):c.881+4_881+10del
|
rs2145479309
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|