NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
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.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
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.3246-20G>A
|
rs6507717
|
0.01199
|
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.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val)
|
rs61731969
|
0.00459
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
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.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.1947+8G>C
|
rs66620415
|
0.00078
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser)
|
rs147021046
|
0.00045
|
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.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
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.1480G>A (p.Val494Met)
|
rs199812609
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)
|
rs146874573
|
0.00019
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly)
|
rs1373857908
|
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.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn)
|
rs201021988
|
0.00014
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
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.3159C>T (p.Asp1053=)
|
rs201460899
|
0.00011
|
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)
|
rs777356809
|
0.00011
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00011
|
NM_000271.5(NPC1):c.398T>G (p.Val133Gly)
|
rs375039992
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000271.5(NPC1):c.180+8C>T
|
rs778096289
|
0.00010
|
NM_000271.5(NPC1):c.181-3A>G
|
rs371126954
|
0.00010
|
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)
|
rs140527006
|
0.00010
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr)
|
rs572337787
|
0.00009
|
NM_000271.5(NPC1):c.273A>G (p.Leu91=)
|
rs370718676
|
0.00008
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=)
|
rs371160947
|
0.00008
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn)
|
rs1416446081
|
0.00006
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)
|
rs373517774
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp)
|
rs141243713
|
0.00006
|
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)
|
rs752896980
|
0.00006
|
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)
|
rs141892620
|
0.00005
|
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala)
|
rs773448915
|
0.00005
|
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln)
|
rs373390781
|
0.00004
|
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn)
|
rs761903316
|
0.00004
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000271.5(NPC1):c.1671C>T (p.Asn557=)
|
rs772427096
|
0.00004
|
NM_000271.5(NPC1):c.2141G>A (p.Arg714His)
|
rs375047023
|
0.00004
|
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala)
|
rs776873102
|
0.00004
|
NM_000271.5(NPC1):c.2911+4C>T
|
rs186588103
|
0.00004
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=)
|
rs911696662
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000271.5(NPC1):c.546C>T (p.Asp182=)
|
rs572499557
|
0.00004
|
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)
|
rs376741451
|
0.00003
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
0.00003
|
NM_000271.5(NPC1):c.1533G>A (p.Thr511=)
|
rs778890495
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
NM_000271.5(NPC1):c.3155T>C (p.Ile1052Thr)
|
rs1238268739
|
0.00003
|
NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg)
|
rs148571882
|
0.00003
|
NM_000271.5(NPC1):c.467T>C (p.Met156Thr)
|
rs147615070
|
0.00003
|
NM_000271.5(NPC1):c.89A>T (p.Glu30Val)
|
rs776166330
|
0.00003
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
NM_000271.5(NPC1):c.2032A>G (p.Ile678Val)
|
rs778974063
|
0.00002
|
NM_000271.5(NPC1):c.2449T>C (p.Leu817=)
|
rs376980859
|
0.00002
|
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile)
|
rs1019159514
|
0.00002
|
NM_000271.5(NPC1):c.2677C>T (p.Leu893=)
|
rs756756960
|
0.00002
|
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn)
|
rs748837410
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val)
|
rs751251790
|
0.00002
|
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn)
|
rs747243586
|
0.00002
|
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met)
|
rs764364312
|
0.00001
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)
|
rs1555636685
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1618C>T (p.Pro540Ser)
|
rs886044064
|
0.00001
|
NM_000271.5(NPC1):c.1764T>C (p.Ile588=)
|
rs1380492295
|
0.00001
|
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)
|
rs76615690
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu)
|
rs778177842
|
0.00001
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
NM_000271.5(NPC1):c.2465A>G (p.Lys822Arg)
|
rs763535443
|
0.00001
|
NM_000271.5(NPC1):c.2472C>G (p.Ser824=)
|
rs1567951608
|
0.00001
|
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr)
|
rs758474760
|
0.00001
|
NM_000271.5(NPC1):c.2514+3A>C
|
rs1567951514
|
0.00001
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
NM_000271.5(NPC1):c.2655G>A (p.Ala885=)
|
rs544601083
|
0.00001
|
NM_000271.5(NPC1):c.2709G>A (p.Lys903=)
|
rs759414321
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu)
|
rs1567948691
|
0.00001
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
NM_000271.5(NPC1):c.3041+10G>A
|
rs965937353
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)
|
rs191526202
|
0.00001
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
NM_000271.5(NPC1):c.3482G>C (p.Cys1161Ser)
|
rs1318511656
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3591+4del
|
rs794727371
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.372A>T (p.Thr124=)
|
rs748125983
|
0.00001
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp)
|
rs544089597
|
0.00001
|
NM_000271.5(NPC1):c.411G>A (p.Thr137=)
|
rs756405444
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
NM_000271.5(NPC1):c.58-4G>A
|
rs767683969
|
0.00001
|
NM_000271.5(NPC1):c.631+7A>G
|
rs886044570
|
0.00001
|
NM_000271.5(NPC1):c.684C>T (p.Asp228=)
|
rs558452690
|
0.00001
|
NM_000271.5(NPC1):c.834G>A (p.Ala278=)
|
rs146105340
|
0.00001
|
NM_000271.5(NPC1):c.1065del (p.Phe356fs)
|
rs886043871
|
|
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs)
|
rs1567965488
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1224C>T (p.Leu408=)
|
rs759901793
|
|
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg)
|
rs774333145
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
NM_000271.5(NPC1):c.1535A>G (p.His512Arg)
|
rs1567963883
|
|
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)
|
rs201791992
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr)
|
rs138184115
|
|
NM_000271.5(NPC1):c.1579A>G (p.Ser527Gly)
|
rs1567961471
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insT
|
rs1555634677
|
|
NM_000271.5(NPC1):c.1947+6dup
|
rs1555634619
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCG
|
rs1555634618
|
|
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+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insT
|
rs1555634683
|
|
NM_000271.5(NPC1):c.1989C>G (p.Ile663Met)
|
rs550696790
|
|
NM_000271.5(NPC1):c.2085G>A (p.Leu695=)
|
rs1567954920
|
|
NM_000271.5(NPC1):c.2131-6_2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2199C>T (p.Pro733=)
|
rs1567953838
|
|
NM_000271.5(NPC1):c.2246-5G>A
|
rs77289650
|
|
NM_000271.5(NPC1):c.2314T>G (p.Phe772Val)
|
rs1567952061
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser)
|
rs762226042
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2712G>T (p.Gly904=)
|
rs560122245
|
|
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu)
|
rs786204714
|
|
NM_000271.5(NPC1):c.2808C>T (p.Gly936=)
|
rs1567949544
|
|
NM_000271.5(NPC1):c.2851A>C (p.Lys951Gln)
|
rs781258738
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.3192T>C (p.Asn1064=)
|
rs1266714936
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=)
|
rs1567945743
|
|
NM_000271.5(NPC1):c.3496G>A (p.Glu1166Lys)
|
rs1567944248
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3592-7_3592-5del
|
rs764142835
|
|
NM_000271.5(NPC1):c.3662T>C (p.Phe1221Ser)
|
rs1266315135
|
|
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys)
|
rs886043744
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3773C>T (p.Ala1258Val)
|
rs767400384
|
|
NM_000271.5(NPC1):c.3783dup (p.Ala1262fs)
|
rs1567940848
|
|
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs)
|
rs1555641037
|
|
NM_000271.5(NPC1):c.444C>G (p.Val148=)
|
rs899764342
|
|
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.569T>C (p.Ile190Thr)
|
rs1555638862
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.737_738delinsCA (p.Val246Ala)
|
rs1567969413
|
|
NM_000271.5(NPC1):c.800C>G (p.Ala267Gly)
|
rs780178153
|
|
NM_000271.5(NPC1):c.90G>A (p.Glu30=)
|
rs1273070261
|
|
NM_000271.5(NPC1):c.956-7C>G
|
rs537484682
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|