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.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+72C>T
|
rs56003892
|
0.01368
|
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.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
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.2130+56A>G
|
rs145377000
|
0.00530
|
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.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
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.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_000271.5(NPC1):c.1553+152del
|
rs11340795
|
|
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_1655-247dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.1655-248dup
|
rs34182768
|
|
NM_000271.5(NPC1):c.181-268_181-265del
|
rs71825108
|
|
NM_000271.5(NPC1):c.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.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+122insCTTTTTTTTTTTTTC
|
rs71373350
|
|
NM_000271.5(NPC1):c.2604+15dup
|
rs746440359
|
|
NM_000271.5(NPC1):c.881+261_881+262dup
|
rs112490232
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|