NM_000271.5(NPC1):c.*309_*315del
|
rs145236115
|
0.00648
|
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.882-40T>A
|
rs144469784
|
0.00420
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
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.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
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.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
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.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000271.5(NPC1):c.1480G>A (p.Val494Met)
|
rs199812609
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
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.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
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.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
0.00003
|
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln)
|
rs969498640
|
0.00003
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr)
|
rs986146604
|
0.00001
|
NM_000271.5(NPC1):c.444C>T (p.Val148=)
|
rs899764342
|
0.00001
|
NM_000271.5(NPC1):c.579G>A (p.Met193Ile)
|
rs1412585368
|
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.1194C>G (p.His398Gln)
|
rs2058950895
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
NM_000271.5(NPC1):c.1883A>C (p.Tyr628Ser)
|
rs2058768795
|
|
NM_000271.5(NPC1):c.1911A>C (p.Leu637=)
|
|
|
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+8insCGGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser)
|
rs568942365
|
|
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
|
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile)
|
rs1057519242
|
|
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile)
|
rs752107020
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)
|
rs751249367
|
|
NM_000271.5(NPC1):c.309C>G (p.Asn103Lys)
|
|
|
NM_000271.5(NPC1):c.3220A>T (p.Ser1074Cys)
|
rs2058635770
|
|
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)
|
rs144973225
|
|
NM_000271.5(NPC1):c.3478-6T>A
|
rs1376131980
|
|
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.3591+1_3591+7delinsTCTT
|
|
|
NM_000271.5(NPC1):c.3653C>G (p.Ser1218Cys)
|
|
|
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|