NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
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.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.2245+114_2245+115insC
|
rs552028482
|
0.01319
|
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.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.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.1553+327G>A
|
rs148115026
|
0.00667
|
NM_000271.5(NPC1):c.*309_*315del
|
rs145236115
|
0.00648
|
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.1554-1016C>T
|
rs145998218
|
0.00584
|
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.1554-871G>A
|
rs138123644
|
0.00431
|
NM_000271.5(NPC1):c.882-40T>A
|
rs144469784
|
0.00420
|
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.463+83C>T
|
rs144947594
|
0.00360
|
NM_000271.5(NPC1):c.1554-877C>G
|
rs149568886
|
0.00356
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
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.58-273C>T
|
rs538915777
|
0.00328
|
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.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.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
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.1554-1010C>T
|
rs142706876
|
0.00046
|
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.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
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.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000271.5(NPC1):c.2130+26T>A
|
rs201543574
|
0.00006
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
0.00003
|
NM_000271.5(NPC1):c.2268C>T (p.Ala756=)
|
rs536329623
|
0.00003
|
NM_000271.5(NPC1):c.127G>A (p.Glu43Lys)
|
rs138277307
|
0.00001
|
NM_000271.5(NPC1):c.444C>T (p.Val148=)
|
rs899764342
|
0.00001
|
NM_000271.5(NPC1):c.888G>A (p.Arg296=)
|
rs369775984
|
0.00001
|
NC_000018.9:g.21124907_21124908insCCGCC
|
rs55809701
|
|
NM_000271.5(NPC1):c.1326+176_1326+178del
|
rs142916225
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
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.1911A>C (p.Leu637=)
|
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT
|
rs1555634668
|
|
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+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+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1948-164C>A
|
rs1652372
|
|
NM_000271.5(NPC1):c.1948-164C>G
|
rs1652372
|
|
NM_000271.5(NPC1):c.2130+7T>G
|
rs1358733869
|
|
NM_000271.5(NPC1):c.2131-21dup
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2245+121_2245+122insC
|
rs71373350
|
|
NM_000271.5(NPC1):c.2604+15dup
|
rs746440359
|
|
NM_000271.5(NPC1):c.2604+30del
|
rs746440359
|
|
NM_000271.5(NPC1):c.2911+224C>T
|
rs59792558
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
NM_000271.5(NPC1):c.3042-159G>C
|
rs1788822
|
|
NM_000271.5(NPC1):c.3042-205dup
|
rs562891401
|
|
NM_000271.5(NPC1):c.3246-309_3246-306del
|
rs61583208
|
|
NM_000271.5(NPC1):c.3246-312dup
|
rs61583208
|
|
NM_000271.5(NPC1):c.3478-119C>A
|
rs141606629
|
|
NM_000271.5(NPC1):c.3483T>C (p.Cys1161=)
|
rs1598935240
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
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.58-281_58-278del
|
rs146504010
|
|
NM_000271.5(NPC1):c.881+37C>G
|
rs142700149
|
|
NM_000271.5(NPC1):c.956-7C>T
|
rs537484682
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|