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.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
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+17T>G
|
rs879174633
|
0.02464
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000271.5(NPC1):c.1554-1016C>T
|
rs145998218
|
0.00584
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000271.5(NPC1):c.3592-42G>C
|
rs149111199
|
0.00228
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
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.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
NM_000271.5(NPC1):c.-36A>C
|
rs750622739
|
0.00031
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
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.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000271.5(NPC1):c.2100C>T (p.Asp700=)
|
rs372517881
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
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.1695C>T (p.Phe565=)
|
rs373094778
|
0.00012
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
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.3477+15A>G
|
rs369049242
|
0.00009
|
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His)
|
rs563385810
|
0.00009
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000271.5(NPC1):c.1947+13_1947+14insT
|
rs1555634643
|
0.00007
|
NM_000271.5(NPC1):c.912C>T (p.Pro304=)
|
rs140894981
|
0.00007
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
NM_000271.5(NPC1):c.1608G>A (p.Thr536=)
|
rs372770463
|
0.00004
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
NM_000271.5(NPC1):c.3132G>A (p.Val1044=)
|
rs138054593
|
0.00004
|
NM_000271.5(NPC1):c.1140C>G (p.Leu380=)
|
rs746501807
|
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.2001G>A (p.Ser667=)
|
rs762100560
|
0.00003
|
NM_000271.5(NPC1):c.2268C>T (p.Ala756=)
|
rs536329623
|
0.00003
|
NM_000271.5(NPC1):c.2397C>T (p.Cys799=)
|
rs769196521
|
0.00003
|
NM_000271.5(NPC1):c.963G>A (p.Ala321=)
|
rs763990769
|
0.00003
|
NM_000271.5(NPC1):c.1948-5C>T
|
rs778035488
|
0.00002
|
NM_000271.5(NPC1):c.3048T>C (p.His1016=)
|
rs369362891
|
0.00002
|
NM_000271.5(NPC1):c.3288C>T (p.Asp1096=)
|
rs371093388
|
0.00002
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2178G>A (p.Arg726=)
|
rs770324592
|
0.00001
|
NM_000271.5(NPC1):c.271C>T (p.Leu91=)
|
rs773809600
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.3099C>T (p.Val1033=)
|
rs753304482
|
0.00001
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
NM_000271.5(NPC1):c.3639G>A (p.Leu1213=)
|
rs120074131
|
0.00001
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
NM_000271.5(NPC1):c.515C>T (p.Ala172Val)
|
rs753654470
|
0.00001
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
NM_000271.5(NPC1):c.881+6C>T
|
rs1180731498
|
0.00001
|
NM_000271.5(NPC1):c.956-11C>T
|
rs780491021
|
0.00001
|
NC_000018.9:g.21124907_21124908insCCGC
|
rs55809701
|
|
NM_000271.4(NPC1):c.1947+16_1947+17insCGG
|
rs55809701
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
NM_000271.5(NPC1):c.1395A>G (p.Gln465=)
|
|
|
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)
|
rs201791992
|
|
NM_000271.5(NPC1):c.1554-1007G>A
|
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1621G>A (p.Val541Met)
|
rs2058874338
|
|
NM_000271.5(NPC1):c.1842T>C (p.Asn614=)
|
rs1373458567
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insC
|
rs2058765443
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGC
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGT
|
rs1555634668
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGA
|
rs1555634658
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGC
|
rs1555634656
|
|
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+13G>C
|
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+14insGGC
|
rs771098370
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGA
|
rs1555634644
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGT
|
rs771098370
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGT
|
|
|
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+15insT
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+19dup
|
rs1555634596
|
|
NM_000271.5(NPC1):c.1947+16_1947+19dup
|
rs1555634597
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGG
|
|
|
NM_000271.5(NPC1):c.1947+7C>G
|
rs56394541
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCG
|
rs1555634618
|
|
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+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+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)
|
|
|
NM_000271.5(NPC1):c.2131-5T>A
|
|
|
NM_000271.5(NPC1):c.2131-6_2131-4del
|
rs11299077
|
|
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.2550C>G (p.Ile850Met)
|
|
|
NM_000271.5(NPC1):c.2667G>A (p.Val889=)
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)
|
|
|
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)
|
rs754323286
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
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.3591+126C>G
|
|
|
NM_000271.5(NPC1):c.3592-10C>G
|
|
|
NM_000271.5(NPC1):c.3592-7_3592-3del
|
rs760935117
|
|
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)
|
rs786200879
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr)
|
rs1266315135
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
NM_000271.5(NPC1):c.3755-3T>C
|
rs748965235
|
|
NM_000271.5(NPC1):c.464-4C>T
|
|
|
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp)
|
rs1555638953
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.881+37C>G
|
rs142700149
|
|
NM_000271.5(NPC1):c.895G>C (p.Val299Leu)
|
rs1032415844
|
|
NM_000271.5(NPC1):c.956-10G>T
|
|
|