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_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_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.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_000271.5(NPC1):c.*164T>C
|
rs8086463
|
0.01169
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
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_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.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
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.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_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_000271.5(NPC1):c.631+17C>T
|
rs115397659
|
0.00083
|
NM_000271.5(NPC1):c.57+11G>C
|
rs548958639
|
0.00074
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_000543.5(SMPD1):c.1340+12A>T
|
rs140221837
|
0.00069
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000543.5(SMPD1):c.1626A>C (p.Arg542=)
|
rs774163596
|
0.00023
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
NM_000271.5(NPC1):c.1695C>T (p.Phe565=)
|
rs373094778
|
0.00012
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000271.5(NPC1):c.1327-12dup
|
|
|
NM_000271.5(NPC1):c.1327-16dup
|
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)
|
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
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+11_1947+12insGGGT
|
rs1555634668
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGA
|
rs1555634656
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGT
|
rs1555634656
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGC
|
rs72283949
|
|
NM_000271.5(NPC1):c.1947+16del
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
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+9dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insT
|
rs1555634683
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2605-14del
|
|
|
NM_000271.5(NPC1):c.3246-6dup
|
|
|
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.3755-16TC[5]
|
rs760529810
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
NM_000543.5(SMPD1):c.*294G>C
|
rs12278115
|
|
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.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
NM_006432.5(NPC2):c.191-14dup
|
rs748909227
|
|