NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_006432.5(NPC2):c.*295C>G
|
rs113587712
|
0.00892
|
NM_000271.5(NPC1):c.*309_*315del
|
rs145236115
|
0.00648
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000271.5(NPC1):c.-100C>G
|
rs553740667
|
0.00144
|
NM_000271.5(NPC1):c.*494G>T
|
rs201277520
|
0.00128
|
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.-110C>T
|
rs373558305
|
0.00100
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_000271.5(NPC1):c.*94G>A
|
rs573009552
|
0.00086
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
NM_000271.5(NPC1):c.*202C>T
|
rs535059744
|
0.00072
|
NM_000271.4(NPC1):c.-272A>C
|
rs540866381
|
0.00051
|
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.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000271.5(NPC1):c.-36A>C
|
rs750622739
|
0.00031
|
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00031
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
NM_000271.5(NPC1):c.-139G>A
|
rs781541939
|
0.00030
|
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.1947+6C>G
|
rs745432812
|
0.00026
|
NM_006432.5(NPC2):c.*237G>A
|
rs185533644
|
0.00023
|
NM_000271.5(NPC1):c.*191C>A
|
rs534888589
|
0.00020
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000271.5(NPC1):c.-154C>T
|
rs746297876
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)
|
rs369392502
|
0.00007
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly)
|
rs748432821
|
0.00005
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000271.5(NPC1):c.-31G>A
|
rs886053668
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)
|
rs769612789
|
0.00003
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr)
|
rs886053667
|
0.00002
|
NM_006432.5(NPC2):c.*86G>A
|
rs146900446
|
0.00002
|
NM_000271.5(NPC1):c.*718C>T
|
rs1227797863
|
0.00001
|
NM_000271.5(NPC1):c.-29C>G
|
rs762126552
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
|
rs751586141
|
0.00001
|
NM_000271.5(NPC1):c.2131-1del
|
rs1567954054
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr)
|
rs146666146
|
0.00001
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys)
|
rs200264267
|
0.00001
|
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
|
rs887908568
|
0.00001
|
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu)
|
rs754653682
|
0.00001
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
NM_006432.4(NPC2):c.-89G>A
|
rs574247323
|
0.00001
|
NM_006432.5(NPC2):c.*115C>T
|
rs780515697
|
0.00001
|
NM_000271.5(NPC1):c.*109T>G
|
rs188980155
|
|
NM_000271.5(NPC1):c.*129T>G
|
rs2058528928
|
|
NM_000271.5(NPC1):c.*161C>T
|
rs2058527793
|
|
NM_000271.5(NPC1):c.*327C>T
|
rs2058522612
|
|
NM_000271.5(NPC1):c.*328A>C
|
rs1326365719
|
|
NM_000271.5(NPC1):c.*334T>A
|
rs886053664
|
|
NM_000271.5(NPC1):c.*349G>A
|
rs886053663
|
|
NM_000271.5(NPC1):c.*485dup
|
rs757215027
|
|
NM_000271.5(NPC1):c.*500A>G
|
rs886053662
|
|
NM_000271.5(NPC1):c.-116C>G
|
rs574376933
|
|
NM_000271.5(NPC1):c.-135C>T
|
rs886053669
|
|
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile)
|
rs2058928378
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC
|
rs199713263
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val)
|
rs1310067072
|
|
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala)
|
rs886053665
|
|
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln)
|
rs775077140
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2734A>G (p.Met912Val)
|
rs746398811
|
|
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu)
|
rs786204714
|
|
NM_000271.5(NPC1):c.286A>G (p.Arg96Gly)
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3755-16TC[5]
|
rs760529810
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
NM_006432.4(NPC2):c.-68G>T
|
rs578161135
|
|