|
NM_000271.4(NPC1):c.-238C>G
|
rs8099071
|
0.11990
|
|
NM_000543.5(SMPD1):c.1487-36C>T
|
rs11601088
|
0.10436
|
|
NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
|
NM_000543.5(SMPD1):c.-45G>C
|
rs79282481
|
0.01446
|
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
|
NM_000271.4(NPC1):c.-179C>T
|
rs145693774
|
0.01171
|
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
|
NM_000271.5(NPC1):c.882-40T>A
|
rs144469784
|
0.00420
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
|
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_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
|
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.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)
|
rs77080672
|
0.00204
|
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
|
NM_000271.5(NPC1):c.*68G>A
|
rs139720390
|
0.00123
|
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
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_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
|
NM_000271.5(NPC1):c.2604+14_2604+16del
|
rs747422358
|
0.00074
|
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_000543.5(SMPD1):c.319-17C>A
|
rs148370501
|
0.00048
|
|
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser)
|
rs147021046
|
0.00045
|
|
NM_000271.5(NPC1):c.1553+18A>G
|
rs373017634
|
0.00041
|
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
|
NM_000543.5(SMPD1):c.1091+10G>A
|
rs148067213
|
0.00033
|
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
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_000543.5(SMPD1):c.338G>A (p.Arg113His)
|
rs149770879
|
0.00029
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
|
NM_000271.5(NPC1):c.181-15T>C
|
rs375367730
|
0.00022
|
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
|
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)
|
rs146874573
|
0.00019
|
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
|
NM_000271.5(NPC1):c.1170G>A (p.Leu390=)
|
rs369109734
|
0.00018
|
|
NM_000271.5(NPC1):c.288-18A>G
|
rs772844838
|
0.00018
|
|
NM_000543.5(SMPD1):c.657G>A (p.Thr219=)
|
rs202032347
|
0.00017
|
|
NM_000271.5(NPC1):c.2100C>T (p.Asp700=)
|
rs372517881
|
0.00016
|
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
|
NM_000271.5(NPC1):c.3591+11T>C
|
rs545647631
|
0.00016
|
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
|
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.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
|
NM_000271.5(NPC1):c.1947+7_1947+9dup
|
rs1555634685
|
0.00014
|
|
NM_000271.5(NPC1):c.3477+14C>T
|
rs56043719
|
0.00014
|
|
NM_000271.5(NPC1):c.786C>T (p.Ile262=)
|
rs138856517
|
0.00014
|
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
|
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)
|
rs201367689
|
0.00013
|
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
|
NM_000271.5(NPC1):c.2514+11dup
|
rs773276283
|
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.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
|
NM_000543.5(SMPD1):c.336T>C (p.Ala112=)
|
rs543145636
|
0.00011
|
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
|
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)
|
rs142147633
|
0.00011
|
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
|
NM_000543.5(SMPD1):c.897C>T (p.Thr299=)
|
rs536760557
|
0.00011
|
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
|
NM_000271.5(NPC1):c.180+8C>T
|
rs778096289
|
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.3477+15A>G
|
rs369049242
|
0.00009
|
|
NM_000271.5(NPC1):c.57+17C>T
|
rs1186978498
|
0.00009
|
|
NM_000543.5(SMPD1):c.1383T>C (p.His461=)
|
rs570284983
|
0.00009
|
|
NM_000271.5(NPC1):c.2493G>A (p.Lys831=)
|
rs150000422
|
0.00008
|
|
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_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00008
|
|
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)
|
rs370828368
|
0.00008
|
|
NM_000543.5(SMPD1):c.900C>T (p.Thr300=)
|
rs368353322
|
0.00008
|
|
NM_000271.5(NPC1):c.1506C>G (p.Asp502Glu)
|
rs191537721
|
0.00007
|
|
NM_000271.5(NPC1):c.1655-11T>C
|
rs574021301
|
0.00007
|
|
NM_000271.5(NPC1):c.1947+11G>T
|
rs747957171
|
0.00007
|
|
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_000543.5(SMPD1):c.174G>A (p.Pro58=)
|
rs368143181
|
0.00007
|
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
|
NM_000271.5(NPC1):c.1837C>T (p.Leu613=)
|
rs147281003
|
0.00006
|
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
|
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)
|
rs202046984
|
0.00006
|
|
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)
|
rs373517774
|
0.00006
|
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
|
NM_000271.5(NPC1):c.631+19A>G
|
rs371704068
|
0.00006
|
|
NM_000543.5(SMPD1):c.1125C>T (p.Pro375=)
|
rs376871416
|
0.00006
|
|
NM_000543.5(SMPD1):c.1335A>G (p.Val445=)
|
rs769400504
|
0.00006
|
|
NM_000543.5(SMPD1):c.1497G>A (p.Val499=)
|
rs749498245
|
0.00006
|
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
|
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg)
|
rs368200803
|
0.00006
|
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
|
NM_006432.5(NPC2):c.330G>C (p.Leu110=)
|
rs762424530
|
0.00006
|
|
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)
|
rs141892620
|
0.00005
|
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
|
NM_000271.5(NPC1):c.1758-15T>C
|
rs755600050
|
0.00005
|
|
NM_000271.5(NPC1):c.1902T>C (p.Tyr634=)
|
rs141293476
|
0.00005
|
|
NM_000271.5(NPC1):c.3519A>G (p.Arg1173=)
|
rs775542483
|
0.00005
|
|
NM_000271.5(NPC1):c.3750C>T (p.Tyr1250=)
|
rs758814720
|
0.00005
|
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
|
NM_000543.5(SMPD1):c.1091+13C>T
|
rs371340833
|
0.00005
|
|
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)
|
rs774989668
|
0.00005
|
|
NM_000543.5(SMPD1):c.618C>T (p.Leu206=)
|
rs776180872
|
0.00005
|
|
NM_000543.5(SMPD1):c.894G>C (p.Leu298=)
|
rs371688255
|
0.00005
|
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
|
NM_006432.5(NPC2):c.30C>T (p.Leu10=)
|
rs142190691
|
0.00005
|
|
NM_000271.5(NPC1):c.123T>C (p.Asn41=)
|
rs777848348
|
0.00004
|
|
NM_000271.5(NPC1):c.1275G>A (p.Ser425=)
|
rs190032589
|
0.00004
|
|
NM_000271.5(NPC1):c.1327-9T>A
|
rs375922122
|
0.00004
|
|
NM_000271.5(NPC1):c.1440C>T (p.Thr480=)
|
rs1376199501
|
0.00004
|
|
NM_000271.5(NPC1):c.1608G>A (p.Thr536=)
|
rs372770463
|
0.00004
|
|
NM_000271.5(NPC1):c.1629G>A (p.Pro543=)
|
rs557129077
|
0.00004
|
|
NM_000271.5(NPC1):c.1671C>T (p.Asn557=)
|
rs772427096
|
0.00004
|
|
NM_000271.5(NPC1):c.181-4A>C
|
rs374571310
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+19G>C
|
rs781264557
|
0.00004
|
|
NM_000271.5(NPC1):c.2352G>C (p.Gly784=)
|
rs140103678
|
0.00004
|
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
|
NM_000271.5(NPC1):c.2556C>T (p.Val852=)
|
rs767066917
|
0.00004
|
|
NM_000271.5(NPC1):c.2912-5G>A
|
rs369985476
|
0.00004
|
|
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=)
|
rs750054620
|
0.00004
|
|
NM_000271.5(NPC1):c.3132G>A (p.Val1044=)
|
rs138054593
|
0.00004
|
|
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=)
|
rs911696662
|
0.00004
|
|
NM_000271.5(NPC1):c.546C>T (p.Asp182=)
|
rs572499557
|
0.00004
|
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
|
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=)
|
rs755182589
|
0.00004
|
|
NM_000543.5(SMPD1):c.1233G>A (p.Glu411=)
|
rs34555120
|
0.00004
|
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
|
NM_000543.5(SMPD1):c.319-10C>T
|
rs749287829
|
0.00004
|
|
NM_000543.5(SMPD1):c.39C>T (p.Pro13=)
|
rs775473869
|
0.00004
|
|
NM_000543.5(SMPD1):c.552G>A (p.Pro184=)
|
rs768265842
|
0.00004
|
|
NM_006432.5(NPC2):c.168C>T (p.Ser56=)
|
rs761208847
|
0.00004
|
|
NM_006432.5(NPC2):c.190+17C>G
|
rs572299295
|
0.00004
|
|
NM_006432.5(NPC2):c.442-8A>C
|
rs758764082
|
0.00004
|
|
NM_006432.5(NPC2):c.57C>T (p.Ala19=)
|
rs752818745
|
0.00004
|
|
NM_000271.5(NPC1):c.110A>G (p.Asp37Gly)
|
rs776181190
|
0.00003
|
|
NM_000271.5(NPC1):c.1140C>G (p.Leu380=)
|
rs746501807
|
0.00003
|
|
NM_000271.5(NPC1):c.1533G>A (p.Thr511=)
|
rs778890495
|
0.00003
|
|
NM_000271.5(NPC1):c.1548C>T (p.Cys516=)
|
rs763680535
|
0.00003
|
|
NM_000271.5(NPC1):c.181-16C>T
|
rs574028536
|
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.1947+7_1947+10dup
|
rs1555634678
|
0.00003
|
|
NM_000271.5(NPC1):c.2001G>A (p.Ser667=)
|
rs762100560
|
0.00003
|
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
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.2727C>T (p.Cys909=)
|
rs774773656
|
0.00003
|
|
NM_000271.5(NPC1):c.2796-4C>T
|
rs374406578
|
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.3042-18C>T
|
rs370846875
|
0.00003
|
|
NM_000271.5(NPC1):c.3324G>A (p.Ala1108=)
|
rs373245725
|
0.00003
|
|
NM_000271.5(NPC1):c.813C>T (p.Ile271=)
|
rs1243631694
|
0.00003
|
|
NM_000271.5(NPC1):c.936T>G (p.Ser312=)
|
rs377568493
|
0.00003
|
|
NM_000271.5(NPC1):c.963G>A (p.Ala321=)
|
rs763990769
|
0.00003
|
|
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=)
|
rs138588535
|
0.00003
|
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
0.00003
|
|
NM_000543.5(SMPD1):c.843C>T (p.Ile281=)
|
rs1457587365
|
0.00003
|
|
NM_006432.5(NPC2):c.216C>T (p.Ala72=)
|
rs773861377
|
0.00003
|
|
NM_006432.5(NPC2):c.453C>G (p.Leu151=)
|
rs766378122
|
0.00003
|
|
NM_006432.5(NPC2):c.83-4G>A
|
rs758359849
|
0.00003
|
|
NM_000271.5(NPC1):c.1422G>A (p.Pro474=)
|
rs367900403
|
0.00002
|
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
|
NM_000271.5(NPC1):c.1947+7C>T
|
rs56394541
|
0.00002
|
|
NM_000271.5(NPC1):c.1948-16C>T
|
rs749272156
|
0.00002
|
|
NM_000271.5(NPC1):c.1948-5C>T
|
rs778035488
|
0.00002
|
|
NM_000271.5(NPC1):c.2130+13A>G
|
rs748156837
|
0.00002
|
|
NM_000271.5(NPC1):c.2245+16A>G
|
rs766131698
|
0.00002
|
|
NM_000271.5(NPC1):c.2245+19C>T
|
rs374377081
|
0.00002
|
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
|
NM_000271.5(NPC1):c.2413G>A (p.Glu805Lys)
|
rs775077140
|
0.00002
|
|
NM_000271.5(NPC1):c.2449T>C (p.Leu817=)
|
rs376980859
|
0.00002
|
|
NM_000271.5(NPC1):c.2643G>A (p.Gln881=)
|
rs1350455118
|
0.00002
|
|
NM_000271.5(NPC1):c.2677C>T (p.Leu893=)
|
rs756756960
|
0.00002
|
|
NM_000271.5(NPC1):c.2790C>T (p.Asp930=)
|
rs762053127
|
0.00002
|
|
NM_000271.5(NPC1):c.2912-6C>T
|
rs768256586
|
0.00002
|
|
NM_000271.5(NPC1):c.2928C>T (p.Cys976=)
|
rs370766410
|
0.00002
|
|
NM_000271.5(NPC1):c.2952G>A (p.Pro984=)
|
rs749366756
|
0.00002
|
|
NM_000271.5(NPC1):c.3048T>C (p.His1016=)
|
rs369362891
|
0.00002
|
|
NM_000271.5(NPC1):c.306T>C (p.Tyr102=)
|
rs751249367
|
0.00002
|
|
NM_000271.5(NPC1):c.3288C>T (p.Asp1096=)
|
rs371093388
|
0.00002
|
|
NM_000271.5(NPC1):c.3447G>A (p.Leu1149=)
|
rs147249773
|
0.00002
|
|
NM_000271.5(NPC1):c.564C>T (p.Asn188=)
|
rs1368112701
|
0.00002
|
|
NM_000271.5(NPC1):c.58-5T>G
|
rs377124729
|
0.00002
|
|
NM_000271.5(NPC1):c.58-6C>T
|
rs756180012
|
0.00002
|
|
NM_000271.5(NPC1):c.900C>T (p.Ser300=)
|
rs377728310
|
0.00002
|
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
0.00002
|
|
NM_000543.5(SMPD1):c.1203C>T (p.Pro401=)
|
rs376494095
|
0.00002
|
|
NM_000543.5(SMPD1):c.1212G>A (p.Gln404=)
|
rs771755385
|
0.00002
|
|
NM_000543.5(SMPD1):c.1302G>A (p.Leu434=)
|
rs754326223
|
0.00002
|
|
NM_000543.5(SMPD1):c.1340+8G>A
|
rs373742012
|
0.00002
|
|
NM_000543.5(SMPD1):c.1386G>A (p.Val462=)
|
rs763521056
|
0.00002
|
|
NM_000543.5(SMPD1):c.138G>T (p.Ala46=)
|
rs200763765
|
0.00002
|
|
NM_000543.5(SMPD1):c.1521C>T (p.Ser507=)
|
rs149423664
|
0.00002
|
|
NM_000543.5(SMPD1):c.1794G>A (p.Gln598=)
|
rs761689892
|
0.00002
|
|
NM_000543.5(SMPD1):c.198C>T (p.Pro66=)
|
rs770037147
|
0.00002
|
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
|
NM_000543.5(SMPD1):c.318+10G>C
|
rs367666720
|
0.00002
|
|
NM_000543.5(SMPD1):c.627G>C (p.Leu209=)
|
rs200443318
|
0.00002
|
|
NM_000543.5(SMPD1):c.766C>T (p.Leu256=)
|
rs1218708186
|
0.00002
|
|
NM_000543.5(SMPD1):c.966A>G (p.Glu322=)
|
rs746711794
|
0.00002
|
|
NM_006432.5(NPC2):c.207C>T (p.Ser69=)
|
rs970173671
|
0.00002
|
|
NM_006432.5(NPC2):c.45C>A (p.Thr15=)
|
rs1025180543
|
0.00002
|
|
NM_000271.5(NPC1):c.1038C>T (p.Cys346=)
|
rs142119577
|
0.00001
|
|
NM_000271.5(NPC1):c.1068C>T (p.Phe356=)
|
rs752521740
|
0.00001
|
|
NM_000271.5(NPC1):c.1077C>T (p.Val359=)
|
rs759389979
|
0.00001
|
|
NM_000271.5(NPC1):c.1095G>A (p.Ser365=)
|
rs150597260
|
0.00001
|
|
NM_000271.5(NPC1):c.1098A>G (p.Ser366=)
|
rs1006770318
|
0.00001
|
|
NM_000271.5(NPC1):c.1215G>A (p.Thr405=)
|
rs763166048
|
0.00001
|
|
NM_000271.5(NPC1):c.1233G>A (p.Arg411=)
|
rs777041778
|
0.00001
|
|
NM_000271.5(NPC1):c.126C>T (p.Cys42=)
|
rs149612530
|
0.00001
|
|
NM_000271.5(NPC1):c.1302G>A (p.Pro434=)
|
rs756074494
|
0.00001
|
|
NM_000271.5(NPC1):c.1350C>T (p.Ile450=)
|
rs368945671
|
0.00001
|
|
NM_000271.5(NPC1):c.1356C>T (p.Asn452=)
|
rs758508630
|
0.00001
|
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
|
NM_000271.5(NPC1):c.1386G>A (p.Val462=)
|
rs1233723809
|
0.00001
|
|
NM_000271.5(NPC1):c.1452G>C (p.Val484=)
|
rs1191599177
|
0.00001
|
|
NM_000271.5(NPC1):c.1569G>A (p.Leu523=)
|
rs1376770067
|
0.00001
|
|
NM_000271.5(NPC1):c.168T>C (p.Tyr56=)
|
rs368182150
|
0.00001
|
|
NM_000271.5(NPC1):c.1758-10T>C
|
rs750073255
|
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.1875A>G (p.Val625=)
|
rs769227666
|
0.00001
|
|
NM_000271.5(NPC1):c.1923C>T (p.His641=)
|
rs758222159
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+9G>C
|
rs56104765
|
0.00001
|
|
NM_000271.5(NPC1):c.1948-12C>T
|
rs779932903
|
0.00001
|
|
NM_000271.5(NPC1):c.1956G>A (p.Ser652=)
|
rs759777593
|
0.00001
|
|
NM_000271.5(NPC1):c.1962C>T (p.Val654=)
|
rs1374257305
|
0.00001
|
|
NM_000271.5(NPC1):c.1974C>T (p.Ile658=)
|
rs760323508
|
0.00001
|
|
NM_000271.5(NPC1):c.1998C>T (p.Ser666=)
|
rs373250439
|
0.00001
|
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
|
NM_000271.5(NPC1):c.210T>C (p.Asn70=)
|
rs1157753581
|
0.00001
|
|
NM_000271.5(NPC1):c.2148A>G (p.Gln716=)
|
rs774299911
|
0.00001
|
|
NM_000271.5(NPC1):c.2158C>T (p.Leu720=)
|
rs1339959181
|
0.00001
|
|
NM_000271.5(NPC1):c.2172G>T (p.Leu724=)
|
rs780387245
|
0.00001
|
|
NM_000271.5(NPC1):c.2178G>A (p.Arg726=)
|
rs770324592
|
0.00001
|
|
NM_000271.5(NPC1):c.2193G>A (p.Val731=)
|
rs1163772145
|
0.00001
|
|
NM_000271.5(NPC1):c.222T>C (p.Cys74=)
|
rs779329099
|
0.00001
|
|
NM_000271.5(NPC1):c.2246-4A>G
|
rs1054383421
|
0.00001
|
|
NM_000271.5(NPC1):c.2246-8C>T
|
rs1400018382
|
0.00001
|
|
NM_000271.5(NPC1):c.2251T>C (p.Leu751=)
|
rs766114585
|
0.00001
|
|
NM_000271.5(NPC1):c.2286C>T (p.Leu762=)
|
rs372431637
|
0.00001
|
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
|
NM_000271.5(NPC1):c.2331C>G (p.Thr777=)
|
rs2058711076
|
0.00001
|
|
NM_000271.5(NPC1):c.2370A>G (p.Gln790=)
|
rs1196248392
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+8G>A
|
rs772364989
|
0.00001
|
|
NM_000271.5(NPC1):c.2374-13T>C
|
rs773375065
|
0.00001
|
|
NM_000271.5(NPC1):c.2472C>G (p.Ser824=)
|
rs1567951608
|
0.00001
|
|
NM_000271.5(NPC1):c.2490A>G (p.Leu830=)
|
rs1356141580
|
0.00001
|
|
NM_000271.5(NPC1):c.2508A>G (p.Pro836=)
|
rs1468600723
|
0.00001
|
|
NM_000271.5(NPC1):c.2511T>C (p.Ile837=)
|
rs369793282
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+9T>C
|
rs1466320929
|
0.00001
|
|
NM_000271.5(NPC1):c.2515-10G>T
|
rs1410751528
|
0.00001
|
|
NM_000271.5(NPC1):c.2515-16T>G
|
rs913507294
|
0.00001
|
|
NM_000271.5(NPC1):c.2595G>A (p.Ser865=)
|
rs775373435
|
0.00001
|
|
NM_000271.5(NPC1):c.2604+8G>C
|
rs1258459284
|
0.00001
|
|
NM_000271.5(NPC1):c.2619G>A (p.Val873=)
|
rs2058689890
|
0.00001
|
|
NM_000271.5(NPC1):c.2634C>T (p.Ser878=)
|
rs2058689667
|
0.00001
|
|
NM_000271.5(NPC1):c.2664T>C (p.Pro888=)
|
rs780680963
|
0.00001
|
|
NM_000271.5(NPC1):c.2700T>C (p.Thr900=)
|
rs752492658
|
0.00001
|
|
NM_000271.5(NPC1):c.271C>T (p.Leu91=)
|
rs773809600
|
0.00001
|
|
NM_000271.5(NPC1):c.2778G>A (p.Ala926=)
|
rs754772486
|
0.00001
|
|
NM_000271.5(NPC1):c.2781G>A (p.Ala927=)
|
rs766328496
|
0.00001
|
|
NM_000271.5(NPC1):c.2795+9C>A
|
rs770100738
|
0.00001
|
|
NM_000271.5(NPC1):c.2796-8C>T
|
rs2058681339
|
0.00001
|
|
NM_000271.5(NPC1):c.2796-9C>T
|
rs1196732533
|
0.00001
|
|
NM_000271.5(NPC1):c.2802A>C (p.Arg934=)
|
rs771234472
|
0.00001
|
|
NM_000271.5(NPC1):c.2811C>T (p.Phe937=)
|
rs747545090
|
0.00001
|
|
NM_000271.5(NPC1):c.2817C>G (p.Pro939=)
|
rs747681496
|
0.00001
|
|
NM_000271.5(NPC1):c.2829C>T (p.Ile943=)
|
rs1200552626
|
0.00001
|
|
NM_000271.5(NPC1):c.2841C>T (p.Phe947=)
|
rs755936884
|
0.00001
|
|
NM_000271.5(NPC1):c.2850G>A (p.Val950=)
|
rs548644873
|
0.00001
|
|
NM_000271.5(NPC1):c.2865T>C (p.Ser955=)
|
rs904728250
|
0.00001
|
|
NM_000271.5(NPC1):c.288-7C>T
|
rs1243567350
|
0.00001
|
|
NM_000271.5(NPC1):c.2912-12T>C
|
rs774683240
|
0.00001
|
|
NM_000271.5(NPC1):c.2912-13A>G
|
rs762407606
|
0.00001
|
|
NM_000271.5(NPC1):c.2922T>G (p.Pro974=)
|
rs1312623801
|
0.00001
|
|
NM_000271.5(NPC1):c.3027C>G (p.Pro1009=)
|
rs759291033
|
0.00001
|
|
NM_000271.5(NPC1):c.3039A>G (p.Lys1013=)
|
rs773268548
|
0.00001
|
|
NM_000271.5(NPC1):c.3041+10G>A
|
rs965937353
|
0.00001
|
|
NM_000271.5(NPC1):c.3042-13A>T
|
rs1337981339
|
0.00001
|
|
NM_000271.5(NPC1):c.3066A>C (p.Ala1022=)
|
rs1459967257
|
0.00001
|
|
NM_000271.5(NPC1):c.3099C>T (p.Val1033=)
|
rs753304482
|
0.00001
|
|
NM_000271.5(NPC1):c.30C>T (p.Leu10=)
|
rs1432179735
|
0.00001
|
|
NM_000271.5(NPC1):c.3108G>A (p.Thr1036=)
|
rs530175301
|
0.00001
|
|
NM_000271.5(NPC1):c.3162T>G (p.Ala1054=)
|
rs1436741694
|
0.00001
|
|
NM_000271.5(NPC1):c.318C>T (p.Asn106=)
|
rs763618439
|
0.00001
|
|
NM_000271.5(NPC1):c.3216C>T (p.Asn1072=)
|
rs779463609
|
0.00001
|
|
NM_000271.5(NPC1):c.3245+10G>A
|
rs375928251
|
0.00001
|
|
NM_000271.5(NPC1):c.324T>C (p.Phe108=)
|
rs138795996
|
0.00001
|
|
NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=)
|
rs768992863
|
0.00001
|
|
NM_000271.5(NPC1):c.3273C>T (p.Tyr1091=)
|
rs1598937493
|
0.00001
|
|
NM_000271.5(NPC1):c.3294T>C (p.Thr1098=)
|
rs780795762
|
0.00001
|
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
|
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)
|
rs191526202
|
0.00001
|
|
NM_000271.5(NPC1):c.3477+20_3477+21del
|
rs754658312
|
0.00001
|
|
NM_000271.5(NPC1):c.3477+7C>T
|
rs1455802023
|
0.00001
|
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
|
NM_000271.5(NPC1):c.3522G>A (p.Ala1174=)
|
rs769887943
|
0.00001
|
|
NM_000271.5(NPC1):c.3549C>T (p.Arg1183=)
|
rs766831960
|
0.00001
|
|
NM_000271.5(NPC1):c.3576C>G (p.Ala1192=)
|
rs1393270334
|
0.00001
|
|
NM_000271.5(NPC1):c.3592-15T>C
|
rs746006854
|
0.00001
|
|
NM_000271.5(NPC1):c.3592-9_3592-8del
|
rs1376430791
|
0.00001
|
|
NM_000271.5(NPC1):c.3594G>A (p.Val1198=)
|
rs1440442725
|
0.00001
|
|
NM_000271.5(NPC1):c.3639G>A (p.Leu1213=)
|
rs120074131
|
0.00001
|
|
NM_000271.5(NPC1):c.372A>T (p.Thr124=)
|
rs748125983
|
0.00001
|
|
NM_000271.5(NPC1):c.3735T>C (p.Pro1245=)
|
rs1206106041
|
0.00001
|
|
NM_000271.5(NPC1):c.3744C>T (p.Leu1248=)
|
rs1449318024
|
0.00001
|
|
NM_000271.5(NPC1):c.3804A>G (p.Lys1268=)
|
rs1280300361
|
0.00001
|
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
|
NM_000271.5(NPC1):c.3828A>G (p.Leu1276=)
|
rs769465763
|
0.00001
|
|
NM_000271.5(NPC1):c.411G>A (p.Thr137=)
|
rs756405444
|
0.00001
|
|
NM_000271.5(NPC1):c.441C>T (p.Tyr147=)
|
rs1388736731
|
0.00001
|
|
NM_000271.5(NPC1):c.444C>T (p.Val148=)
|
rs899764342
|
0.00001
|
|
NM_000271.5(NPC1):c.463+15A>C
|
rs1000226677
|
0.00001
|
|
NM_000271.5(NPC1):c.464-9C>T
|
rs746194096
|
0.00001
|
|
NM_000271.5(NPC1):c.513G>A (p.Lys171=)
|
rs754849769
|
0.00001
|
|
NM_000271.5(NPC1):c.51A>T (p.Pro17=)
|
rs1175682189
|
0.00001
|
|
NM_000271.5(NPC1):c.522A>G (p.Gly174=)
|
rs201249935
|
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.591C>T (p.Asp197=)
|
rs1435325792
|
0.00001
|
|
NM_000271.5(NPC1):c.631+7A>G
|
rs886044570
|
0.00001
|
|
NM_000271.5(NPC1):c.632-7T>C
|
rs781044030
|
0.00001
|
|
NM_000271.5(NPC1):c.663C>T (p.Asn221=)
|
rs2059022151
|
0.00001
|
|
NM_000271.5(NPC1):c.684C>T (p.Asp228=)
|
rs558452690
|
0.00001
|
|
NM_000271.5(NPC1):c.690T>G (p.Ser230=)
|
rs768304872
|
0.00001
|
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
|
NM_000271.5(NPC1):c.72C>T (p.Ser24=)
|
rs764560779
|
0.00001
|
|
NM_000271.5(NPC1):c.744C>T (p.Gly248=)
|
rs766556966
|
0.00001
|
|
NM_000271.5(NPC1):c.756G>A (p.Gln252=)
|
rs768008295
|
0.00001
|
|
NM_000271.5(NPC1):c.783G>A (p.Thr261=)
|
rs770731602
|
0.00001
|
|
NM_000271.5(NPC1):c.798C>T (p.Asp266=)
|
rs199887728
|
0.00001
|
|
NM_000271.5(NPC1):c.822C>T (p.Ile274=)
|
rs1355151756
|
0.00001
|
|
NM_000271.5(NPC1):c.834G>A (p.Ala278=)
|
rs146105340
|
0.00001
|
|
NM_000271.5(NPC1):c.870G>A (p.Val290=)
|
rs149559712
|
0.00001
|
|
NM_000271.5(NPC1):c.882-7T>C
|
rs1422381609
|
0.00001
|
|
NM_000271.5(NPC1):c.888G>A (p.Arg296=)
|
rs369775984
|
0.00001
|
|
NM_000271.5(NPC1):c.915C>T (p.Ile305=)
|
rs1452021800
|
0.00001
|
|
NM_000271.5(NPC1):c.945A>G (p.Ala315=)
|
rs2058965361
|
0.00001
|
|
NM_000271.5(NPC1):c.956-11C>T
|
rs780491021
|
0.00001
|
|
NM_000271.5(NPC1):c.990A>G (p.Ala330=)
|
rs772406728
|
0.00001
|
|
NM_000543.5(SMPD1):c.1017C>T (p.Ser339=)
|
rs1040248510
|
0.00001
|
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
|
NM_000543.5(SMPD1):c.1078C>T (p.Leu360=)
|
rs772788648
|
0.00001
|
|
NM_000543.5(SMPD1):c.1128T>C (p.Gly376=)
|
rs745317640
|
0.00001
|
|
NM_000543.5(SMPD1):c.1194C>A (p.Ser398=)
|
rs967970847
|
0.00001
|
|
NM_000543.5(SMPD1):c.1263+10A>G
|
rs1237766501
|
0.00001
|
|
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)
|
rs571806745
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
0.00001
|
|
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)
|
rs554647710
|
0.00001
|
|
NM_000543.5(SMPD1):c.1476C>G (p.Gly492=)
|
rs1262156065
|
0.00001
|
|
NM_000543.5(SMPD1):c.1494T>G (p.Arg498=)
|
rs1382113966
|
0.00001
|
|
NM_000543.5(SMPD1):c.1527C>T (p.Ser509=)
|
rs944330326
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=)
|
rs778746534
|
0.00001
|
|
NM_000543.5(SMPD1):c.1653G>A (p.Leu551=)
|
rs377371222
|
0.00001
|
|
NM_000543.5(SMPD1):c.1659C>T (p.Thr553=)
|
rs746058509
|
0.00001
|
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
|
NM_000543.5(SMPD1):c.1725C>T (p.Leu575=)
|
rs780285591
|
0.00001
|
|
NM_000543.5(SMPD1):c.1746C>T (p.Pro582=)
|
rs781756741
|
0.00001
|
|
NM_000543.5(SMPD1):c.1782T>C (p.Thr594=)
|
rs200974033
|
0.00001
|
|
NM_000543.5(SMPD1):c.1836G>T (p.Leu612=)
|
rs1413475417
|
0.00001
|
|
NM_000543.5(SMPD1):c.1885C>T (p.Leu629=)
|
rs776370511
|
0.00001
|
|
NM_000543.5(SMPD1):c.229G>A (p.Val77Met)
|
rs560531338
|
0.00001
|
|
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)
|
rs201647015
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-7A>T
|
rs757091200
|
0.00001
|
|
NM_000543.5(SMPD1):c.339C>T (p.Arg113=)
|
rs923028036
|
0.00001
|
|
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
|
NM_000543.5(SMPD1):c.393C>T (p.Ala131=)
|
rs778655099
|
0.00001
|
|
NM_000543.5(SMPD1):c.465A>G (p.Pro155=)
|
rs1163540840
|
0.00001
|
|
NM_000543.5(SMPD1):c.480C>A (p.Gly160=)
|
rs765073144
|
0.00001
|
|
NM_000543.5(SMPD1):c.561C>T (p.Pro187=)
|
rs1020434151
|
0.00001
|
|
NM_000543.5(SMPD1):c.591T>C (p.Gly197=)
|
rs1328127205
|
0.00001
|
|
NM_000543.5(SMPD1):c.606C>T (p.Arg202=)
|
rs779618003
|
0.00001
|
|
NM_000543.5(SMPD1):c.621T>C (p.Thr207=)
|
rs1198832119
|
0.00001
|
|
NM_000543.5(SMPD1):c.675C>T (p.Asp225=)
|
rs1030101180
|
0.00001
|
|
NM_000543.5(SMPD1):c.678A>G (p.Pro226=)
|
rs1261935541
|
0.00001
|
|
NM_000543.5(SMPD1):c.696T>C (p.Gly232=)
|
rs780602613
|
0.00001
|
|
NM_000543.5(SMPD1):c.711C>T (p.Pro237=)
|
rs1847926093
|
0.00001
|
|
NM_000543.5(SMPD1):c.720G>T (p.Arg240=)
|
rs879868810
|
0.00001
|
|
NM_000543.5(SMPD1):c.735C>T (p.Tyr245=)
|
rs760865854
|
0.00001
|
|
NM_000543.5(SMPD1):c.753G>A (p.Lys251=)
|
rs374458858
|
0.00001
|
|
NM_000543.5(SMPD1):c.759C>T (p.Asp253=)
|
rs752000778
|
0.00001
|
|
NM_000543.5(SMPD1):c.75C>T (p.Ala25=)
|
rs1312090680
|
0.00001
|
|
NM_000543.5(SMPD1):c.780G>A (p.Glu260=)
|
rs770523185
|
0.00001
|
|
NM_000543.5(SMPD1):c.84C>T (p.Pro28=)
|
rs577769499
|
0.00001
|
|
NM_000543.5(SMPD1):c.852T>C (p.His284=)
|
rs1847936690
|
0.00001
|
|
NM_000543.5(SMPD1):c.873T>C (p.Arg291=)
|
rs745502097
|
0.00001
|
|
NM_000543.5(SMPD1):c.90C>A (p.Leu30=)
|
rs748793138
|
0.00001
|
|
NM_000543.5(SMPD1):c.984C>T (p.Ser328=)
|
rs781339776
|
0.00001
|
|
NM_000543.5(SMPD1):c.987C>T (p.Phe329=)
|
rs572772760
|
0.00001
|
|
NM_000543.5(SMPD1):c.999C>T (p.Phe333=)
|
rs774790917
|
0.00001
|
|
NM_006432.5(NPC2):c.129C>T (p.Pro43=)
|
rs760668431
|
0.00001
|
|
NM_006432.5(NPC2):c.150C>T (p.Ser50=)
|
rs2086712392
|
0.00001
|
|
NM_006432.5(NPC2):c.183C>T (p.Phe61=)
|
rs768296377
|
0.00001
|
|
NM_006432.5(NPC2):c.190+6dup
|
rs770729278
|
0.00001
|
|
NM_006432.5(NPC2):c.191-10T>C
|
rs907643924
|
0.00001
|
|
NM_006432.5(NPC2):c.191-8T>C
|
rs1404077821
|
0.00001
|
|
NM_006432.5(NPC2):c.222G>A (p.Val74=)
|
rs763523833
|
0.00001
|
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
|
NM_006432.5(NPC2):c.312C>T (p.Asp104=)
|
rs751455041
|
0.00001
|
|
NM_006432.5(NPC2):c.318C>G (p.Thr106=)
|
rs763613633
|
0.00001
|
|
NM_006432.5(NPC2):c.364-11T>C
|
rs751545027
|
0.00001
|
|
NM_006432.5(NPC2):c.364-13T>C
|
rs897207821
|
0.00001
|
|
NM_006432.5(NPC2):c.370C>T (p.Leu124=)
|
rs757968557
|
0.00001
|
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
|
NM_006432.5(NPC2):c.429C>A (p.Ile143=)
|
rs528199992
|
0.00001
|
|
NM_006432.5(NPC2):c.441+9A>G
|
rs372464598
|
0.00001
|
|
NM_006432.5(NPC2):c.455A>G (p.Ter152=)
|
rs1162911732
|
0.00001
|
|
NM_006432.5(NPC2):c.63G>A (p.Pro21=)
|
rs1299194959
|
0.00001
|
|
NM_006432.5(NPC2):c.69G>A (p.Gln23=)
|
rs760160779
|
0.00001
|
|
NM_006432.5(NPC2):c.82+15C>G
|
rs1261259335
|
0.00001
|
|
NM_006432.5(NPC2):c.82+7C>T
|
rs771418765
|
0.00001
|
|
NM_006432.5(NPC2):c.82+9C>T
|
rs553819330
|
0.00001
|
|
NC_000018.10:g.23544943_23544944insACC
|
|
|
|
NC_000018.10:g.23544944_23544945insACC
|
|
|
|
NC_000018.9:g.21124907_21124908insCACC
|
|
|
|
NC_000018.9:g.21124907_21124908insCACCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCACC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCCCG
|
rs1555634622
|
|
|
NC_000018.9:g.21124907_21124908insCCCG
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCGC
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCGCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCCT
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCTC
|
rs1555634620
|
|
|
NC_000018.9:g.21124907_21124908insCCCTCC
|
|
|
|
NC_000018.9:g.21124907_21124908insCCGC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCGCC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCT
|
|
|
|
NC_000018.9:g.21124907_21124908insCCTC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCCTCC
|
rs55809701
|
|
|
NC_000018.9:g.21124907_21124908insCGC
|
|
|
|
NC_000018.9:g.21124907_21124908insCTCC
|
rs1555634621
|
|
|
NC_000018.9:g.21124907_21124908insCTCCC
|
|
|
|
NM_000271.4(NPC1):c.1947+16_1947+17insCGG
|
rs55809701
|
|
|
NM_000271.5(NPC1):c.1014G>C (p.Leu338=)
|
|
|
|
NM_000271.5(NPC1):c.1023C>A (p.Arg341=)
|
rs2145458093
|
|
|
NM_000271.5(NPC1):c.1029G>A (p.Gly343=)
|
rs2145458023
|
|
|
NM_000271.5(NPC1):c.102A>C (p.Ala34=)
|
|
|
|
NM_000271.5(NPC1):c.102A>G (p.Ala34=)
|
|
|
|
NM_000271.5(NPC1):c.1032T>A (p.Ser344=)
|
rs2145457977
|
|
|
NM_000271.5(NPC1):c.1041C>T (p.Val347=)
|
rs2058954302
|
|
|
NM_000271.5(NPC1):c.1053C>G (p.Gly351=)
|
|
|
|
NM_000271.5(NPC1):c.1059C>T (p.Val353=)
|
|
|
|
NM_000271.5(NPC1):c.1074G>C (p.Leu358=)
|
rs2145457569
|
|
|
NM_000271.5(NPC1):c.1089G>A (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.108G>A (p.Gly36=)
|
rs2145552145
|
|
|
NM_000271.5(NPC1):c.1092T>C (p.Cys364=)
|
rs2058953311
|
|
|
NM_000271.5(NPC1):c.1098A>C (p.Ser366=)
|
rs1006770318
|
|
|
NM_000271.5(NPC1):c.1101C>G (p.Gly367=)
|
|
|
|
NM_000271.5(NPC1):c.1102C>T (p.Leu368=)
|
rs2145457233
|
|
|
NM_000271.5(NPC1):c.1104G>C (p.Leu368=)
|
|
|
|
NM_000271.5(NPC1):c.1107G>A (p.Val369=)
|
rs2058952906
|
|
|
NM_000271.5(NPC1):c.1110T>C (p.Phe370=)
|
|
|
|
NM_000271.5(NPC1):c.1116G>A (p.Arg372=)
|
rs947484362
|
|
|
NM_000271.5(NPC1):c.1122A>G (p.Thr374=)
|
|
|
|
NM_000271.5(NPC1):c.1131A>C (p.Pro377=)
|
|
|
|
NM_000271.5(NPC1):c.1131A>G (p.Pro377=)
|
rs1164106395
|
|
|
NM_000271.5(NPC1):c.1131A>T (p.Pro377=)
|
rs1164106395
|
|
|
NM_000271.5(NPC1):c.1149C>T (p.Ala383=)
|
|
|
|
NM_000271.5(NPC1):c.1152C>G (p.Pro384=)
|
rs2145456691
|
|
|
NM_000271.5(NPC1):c.1173A>G (p.Glu391=)
|
|
|
|
NM_000271.5(NPC1):c.1179G>A (p.Glu393=)
|
rs748026338
|
|
|
NM_000271.5(NPC1):c.1191G>A (p.Gln397=)
|
rs374959321
|
|
|
NM_000271.5(NPC1):c.1203T>A (p.Pro401=)
|
rs2145456286
|
|
|
NM_000271.5(NPC1):c.120C>T (p.Tyr40=)
|
|
|
|
NM_000271.5(NPC1):c.1224C>G (p.Leu408=)
|
rs759901793
|
|
|
NM_000271.5(NPC1):c.1224C>T (p.Leu408=)
|
rs759901793
|
|
|
NM_000271.5(NPC1):c.1254C>T (p.His418=)
|
|
|
|
NM_000271.5(NPC1):c.1266A>G (p.Pro422=)
|
|
|
|
NM_000271.5(NPC1):c.1281T>G (p.Ala427=)
|
|
|
|
NM_000271.5(NPC1):c.1284T>C (p.Asp428=)
|
rs942924284
|
|
|
NM_000271.5(NPC1):c.1287A>C (p.Val429=)
|
rs2058948954
|
|
|
NM_000271.5(NPC1):c.1290C>T (p.Pro430=)
|
|
|
|
NM_000271.5(NPC1):c.1293T>C (p.Phe431=)
|
rs1291913090
|
|
|
NM_000271.5(NPC1):c.1296A>T (p.Gly432=)
|
rs2145455403
|
|
|
NM_000271.5(NPC1):c.1318C>T (p.Leu440=)
|
rs1390796169
|
|
|
NM_000271.5(NPC1):c.1323C>T (p.His441=)
|
rs2145455070
|
|
|
NM_000271.5(NPC1):c.1326+14T>G
|
|
|
|
NM_000271.5(NPC1):c.1326+15G>A
|
|
|
|
NM_000271.5(NPC1):c.1327-10C>A
|
|
|
|
NM_000271.5(NPC1):c.1327-15A>G
|
|
|
|
NM_000271.5(NPC1):c.1327-4T>C
|
|
|
|
NM_000271.5(NPC1):c.1327-7C>G
|
rs2145448562
|
|
|
NM_000271.5(NPC1):c.132T>C (p.Tyr44=)
|
rs778757273
|
|
|
NM_000271.5(NPC1):c.1335C>T (p.Asp445=)
|
|
|
|
NM_000271.5(NPC1):c.1350C>A (p.Ile450=)
|
rs368945671
|
|
|
NM_000271.5(NPC1):c.1359T>C (p.Ile453=)
|
|
|
|
NM_000271.5(NPC1):c.1365C>T (p.Ala455=)
|
|
|
|
NM_000271.5(NPC1):c.1377T>C (p.Asn459=)
|
|
|
|
NM_000271.5(NPC1):c.1392T>G (p.Leu464=)
|
rs2145448105
|
|
|
NM_000271.5(NPC1):c.1395A>G (p.Gln465=)
|
|
|
|
NM_000271.5(NPC1):c.1398C>T (p.Asp466=)
|
|
|
|
NM_000271.5(NPC1):c.1401C>T (p.Ile467=)
|
rs2058928240
|
|
|
NM_000271.5(NPC1):c.1405T>C (p.Leu469=)
|
rs530310492
|
|
|
NM_000271.5(NPC1):c.1407G>A (p.Leu469=)
|
|
|
|
NM_000271.5(NPC1):c.1410C>A (p.Ala470=)
|
|
|
|
NM_000271.5(NPC1):c.1410C>T (p.Ala470=)
|
|
|
|
NM_000271.5(NPC1):c.1413T>C (p.Pro471=)
|
|
|
|
NM_000271.5(NPC1):c.1419A>G (p.Ser473=)
|
|
|
|
NM_000271.5(NPC1):c.1437C>T (p.Cys479=)
|
|
|
|
NM_000271.5(NPC1):c.1443T>C (p.Ile481=)
|
|
|
|
NM_000271.5(NPC1):c.1444T>C (p.Leu482=)
|
rs1009526664
|
|
|
NM_000271.5(NPC1):c.144A>G (p.Pro48=)
|
rs1420450833
|
|
|
NM_000271.5(NPC1):c.1470C>T (p.Asn490=)
|
rs2145447446
|
|
|
NM_000271.5(NPC1):c.1473C>T (p.Ser491=)
|
|
|
|
NM_000271.5(NPC1):c.1482G>C (p.Val494=)
|
|
|
|
NM_000271.5(NPC1):c.1482G>T (p.Val494=)
|
|
|
|
NM_000271.5(NPC1):c.1488C>T (p.Asp496=)
|
|
|
|
NM_000271.5(NPC1):c.1491C>T (p.His497=)
|
|
|
|
NM_000271.5(NPC1):c.1500G>C (p.Gly500=)
|
|
|
|
NM_000271.5(NPC1):c.1518T>C (p.Tyr506=)
|
rs2145447075
|
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
|
NM_000271.5(NPC1):c.1524T>C (p.Asp508=)
|
|
|
|
NM_000271.5(NPC1):c.1533G>C (p.Thr511=)
|
rs778890495
|
|
|
NM_000271.5(NPC1):c.1533G>T (p.Thr511=)
|
rs778890495
|
|
|
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)
|
rs201791992
|
|
|
NM_000271.5(NPC1):c.1553+17A>G
|
|
|
|
NM_000271.5(NPC1):c.1553+18A>T
|
|
|
|
NM_000271.5(NPC1):c.1553+7G>A
|
rs2145446691
|
|
|
NM_000271.5(NPC1):c.1553+9C>G
|
rs2145446678
|
|
|
NM_000271.5(NPC1):c.1554-1009G>T
|
|
|
|
NM_000271.5(NPC1):c.1554-14A>G
|
|
|
|
NM_000271.5(NPC1):c.1554-15del
|
|
|
|
NM_000271.5(NPC1):c.1554-18T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-19T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-4G>A
|
|
|
|
NM_000271.5(NPC1):c.1554-7T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-7T>G
|
rs559970885
|
|
|
NM_000271.5(NPC1):c.1554-9T>C
|
|
|
|
NM_000271.5(NPC1):c.1554-9T>G
|
rs2145433762
|
|
|
NM_000271.5(NPC1):c.1557T>C (p.Ala519=)
|
rs546384677
|
|
|
NM_000271.5(NPC1):c.1569G>T (p.Leu523=)
|
rs1376770067
|
|
|
NM_000271.5(NPC1):c.1575T>C (p.Asp525=)
|
|
|
|
NM_000271.5(NPC1):c.1590T>C (p.His530=)
|
|
|
|
NM_000271.5(NPC1):c.1596T>C (p.Pro532=)
|
rs1567961433
|
|
|
NM_000271.5(NPC1):c.1596T>G (p.Pro532=)
|
rs1567961433
|
|
|
NM_000271.5(NPC1):c.1599T>C (p.Cys533=)
|
|
|
|
NM_000271.5(NPC1):c.15C>T (p.Gly5=)
|
|
|
|
NM_000271.5(NPC1):c.1617A>C (p.Gly539=)
|
|
|
|
NM_000271.5(NPC1):c.1620A>C (p.Pro540=)
|
|
|
|
NM_000271.5(NPC1):c.1626C>T (p.Phe542=)
|
rs2145433201
|
|
|
NM_000271.5(NPC1):c.1638G>A (p.Val546=)
|
rs2145433093
|
|
|
NM_000271.5(NPC1):c.1654+15C>T
|
|
|
|
NM_000271.5(NPC1):c.1654+20A>G
|
|
|
|
NM_000271.5(NPC1):c.1654+9G>C
|
|
|
|
NM_000271.5(NPC1):c.1655-10T>C
|
rs771040873
|
|
|
NM_000271.5(NPC1):c.1655-16C>T
|
|
|
|
NM_000271.5(NPC1):c.1655-4C>T
|
|
|
|
NM_000271.5(NPC1):c.1655-7T>C
|
|
|
|
NM_000271.5(NPC1):c.165A>C (p.Gly55=)
|
|
|
|
NM_000271.5(NPC1):c.1662C>T (p.Asn554=)
|
rs778002425
|
|
|
NM_000271.5(NPC1):c.1674C>A (p.Ala558=)
|
|
|
|
NM_000271.5(NPC1):c.1683T>G (p.Leu561=)
|
|
|
|
NM_000271.5(NPC1):c.1686G>C (p.Val562=)
|
|
|
|
NM_000271.5(NPC1):c.1722A>G (p.Thr574=)
|
|
|
|
NM_000271.5(NPC1):c.1728G>A (p.Lys576=)
|
rs1218395394
|
|
|
NM_000271.5(NPC1):c.1731C>G (p.Leu577=)
|
|
|
|
NM_000271.5(NPC1):c.1734G>A (p.Gln578=)
|
rs2145417067
|
|
|
NM_000271.5(NPC1):c.1743G>A (p.Gln581=)
|
rs1234473868
|
|
|
NM_000271.5(NPC1):c.1746C>G (p.Ala582=)
|
|
|
|
NM_000271.5(NPC1):c.1746C>T (p.Ala582=)
|
rs2145417026
|
|
|
NM_000271.5(NPC1):c.1752A>G (p.Glu584=)
|
rs2145416997
|
|
|
NM_000271.5(NPC1):c.1757+10T>C
|
rs1799289518
|
|
|
NM_000271.5(NPC1):c.1757+12A>G
|
|
|
|
NM_000271.5(NPC1):c.1757+13T>A
|
|
|
|
NM_000271.5(NPC1):c.1757+14G>A
|
|
|
|
NM_000271.5(NPC1):c.1757+19T>C
|
|
|
|
NM_000271.5(NPC1):c.1757+19dup
|
|
|
|
NM_000271.5(NPC1):c.1757+7dup
|
rs1393257139
|
|
|
NM_000271.5(NPC1):c.1757+8A>G
|
|
|
|
NM_000271.5(NPC1):c.1757+8A>T
|
|
|
|
NM_000271.5(NPC1):c.1757+9C>T
|
rs2145416919
|
|
|
NM_000271.5(NPC1):c.1758-14_1758-13dup
|
|
|
|
NM_000271.5(NPC1):c.1758-17T>G
|
|
|
|
NM_000271.5(NPC1):c.1758-8C>T
|
|
|
|
NM_000271.5(NPC1):c.1782C>T (p.Tyr594=)
|
rs2145406178
|
|
|
NM_000271.5(NPC1):c.1788T>C (p.Asn596=)
|
rs2145406115
|
|
|
NM_000271.5(NPC1):c.1794T>C (p.Asn598=)
|
|
|
|
NM_000271.5(NPC1):c.180+11T>C
|
|
|
|
NM_000271.5(NPC1):c.180+13T>A
|
|
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
|
NM_000271.5(NPC1):c.180+17A>G
|
|
|
|
NM_000271.5(NPC1):c.180+19G>A
|
|
|
|
NM_000271.5(NPC1):c.180+19G>T
|
|
|
|
NM_000271.5(NPC1):c.180+20C>T
|
|
|
|
NM_000271.5(NPC1):c.180+7T>C
|
|
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
|
NM_000271.5(NPC1):c.180+9A>G
|
rs201021412
|
|
|
NM_000271.5(NPC1):c.1800C>T (p.Thr600=)
|
|
|
|
NM_000271.5(NPC1):c.181-10C>A
|
|
|
|
NM_000271.5(NPC1):c.181-10C>T
|
rs2145545058
|
|
|
NM_000271.5(NPC1):c.181-17G>C
|
|
|
|
NM_000271.5(NPC1):c.181-19G>A
|
|
|
|
NM_000271.5(NPC1):c.181-4A>G
|
|
|
|
NM_000271.5(NPC1):c.181-7C>T
|
rs2145545045
|
|
|
NM_000271.5(NPC1):c.1830A>G (p.Glu610=)
|
|
|
|
NM_000271.5(NPC1):c.1839A>G (p.Leu613=)
|
|
|
|
NM_000271.5(NPC1):c.1842T>C (p.Asn614=)
|
rs1373458567
|
|
|
NM_000271.5(NPC1):c.1863C>T (p.Val621=)
|
|
|
|
NM_000271.5(NPC1):c.1866C>T (p.Phe622=)
|
|
|
|
NM_000271.5(NPC1):c.1869C>G (p.Thr623=)
|
|
|
|
NM_000271.5(NPC1):c.1872T>C (p.Val624=)
|
rs2145405450
|
|
|
NM_000271.5(NPC1):c.1878T>C (p.Ile626=)
|
|
|
|
NM_000271.5(NPC1):c.1887C>T (p.Ala629=)
|
|
|
|
NM_000271.5(NPC1):c.1899A>G (p.Leu633=)
|
rs1195898144
|
|
|
NM_000271.5(NPC1):c.189T>C (p.Cys63=)
|
|
|
|
NM_000271.5(NPC1):c.1908C>T (p.Ser636=)
|
rs2058768340
|
|
|
NM_000271.5(NPC1):c.1914C>A (p.Ala638=)
|
rs2145405175
|
|
|
NM_000271.5(NPC1):c.1915T>C (p.Leu639=)
|
rs2145405166
|
|
|
NM_000271.5(NPC1):c.1920G>A (p.Gly640=)
|
|
|
|
NM_000271.5(NPC1):c.192A>G (p.Pro64=)
|
rs2145544921
|
|
|
NM_000271.5(NPC1):c.1941G>A (p.Arg647=)
|
rs1333052052
|
|
|
NM_000271.5(NPC1):c.1945C>T (p.Leu649=)
|
|
|
|
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+11insC
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGAG
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCG
|
rs778092499
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGGCGG
|
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGT
|
rs1555634676
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insT
|
rs1555634677
|
|
|
NM_000271.5(NPC1):c.1947+11G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+11G>C
|
rs747957171
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insA
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insC
|
rs2058765443
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGA
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGA
|
rs1555634668
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGC
|
rs1555634668
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGA
|
rs1555634669
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGAG
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGT
|
rs1555634669
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGGGTG
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGT
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGT
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insT
|
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+16dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+12G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insA
|
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insC
|
rs1555634657
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGA
|
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGC
|
rs1555634659
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGA
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGC
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGC
|
rs1555634656
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGA
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGT
|
rs199713263
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGGT
|
rs1555634658
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insGT
|
rs1555634659
|
|
|
NM_000271.5(NPC1):c.1947+12_1947+13insT
|
|
|
|
NM_000271.5(NPC1):c.1947+13G>A
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+13G>C
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
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+14insGGA
|
|
|
|
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+14insGGGC
|
rs1555634644
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGA
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGC
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGA
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGC
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGGT
|
rs1555634645
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGGT
|
rs1555634642
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+13_1947+14insGGT
|
rs771098370
|
|
|
NM_000271.5(NPC1):c.1947+14G>A
|
|
|
|
NM_000271.5(NPC1):c.1947+14G>C
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGA
|
rs1555634633
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGC
|
|
|
|
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+15insGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGC
|
rs1555634632
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGGT
|
rs1555634632
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGGT
|
rs1555634634
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insGT
|
rs1555634633
|
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insT
|
|
|
|
NM_000271.5(NPC1):c.1947+15G>C
|
rs1238986430
|
|
|
NM_000271.5(NPC1):c.1947+15G>T
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGA
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGA
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGC
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGC
|
rs1555634625
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGC
|
rs1555634623
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGC
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGGT
|
rs1555634625
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGGT
|
rs1555634624
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGT
|
rs72283949
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+16insGTT
|
rs72283949
|
|
|
NM_000271.5(NPC1):c.1947+15_1947+19dup
|
rs1555634596
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGA
|
rs1555634621
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGC
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGA
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGC
|
rs55809701
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGGT
|
rs1555634620
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+17insGGGT
|
rs55809701
|
|
|
NM_000271.5(NPC1):c.1947+16_1947+19dup
|
rs1555634597
|
|
|
NM_000271.5(NPC1):c.1947+16del
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+17T>C
|
|
|
|
NM_000271.5(NPC1):c.1947+17_1947+18dup
|
|
|
|
NM_000271.5(NPC1):c.1947+17del
|
|
|
|
NM_000271.5(NPC1):c.1947+18_1947+19dup
|
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGGG
|
rs770879191
|
|
|
NM_000271.5(NPC1):c.1947+19_1947+20insGGGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+19dup
|
|
|
|
NM_000271.5(NPC1):c.1947+6dup
|
rs1555634619
|
|
|
NM_000271.5(NPC1):c.1947+7C>G
|
rs56394541
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+12dup
|
rs1555634660
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+13dup
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insA
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insAGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCAGG
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGCGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGAG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGCGG
|
|
|
|
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+7_1947+8insCGGGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insT
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insTGGG
|
|
|
|
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+8_1947+9insC
|
rs768629263
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGAGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGCGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGTGG
|
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9insGTGGG
|
rs1555634688
|
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insA
|
rs1555634683
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insC
|
rs1555634683
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGC
|
rs1555634684
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGA
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAGGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGCGGG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGT
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGG
|
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGTGGG
|
|
|
|
NM_000271.5(NPC1):c.1948-11G>C
|
|
|
|
NM_000271.5(NPC1):c.1948-20G>T
|
|
|
|
NM_000271.5(NPC1):c.1948-4T>A
|
rs2145400860
|
|
|
NM_000271.5(NPC1):c.1948-8T>C
|
|
|
|
NM_000271.5(NPC1):c.1956G>T (p.Ser652=)
|
rs759777593
|
|
|
NM_000271.5(NPC1):c.1965A>G (p.Ser655=)
|
rs754438938
|
|
|
NM_000271.5(NPC1):c.1965A>T (p.Ser655=)
|
rs754438938
|
|
|
NM_000271.5(NPC1):c.1971C>G (p.Gly657=)
|
|
|
|
NM_000271.5(NPC1):c.1977G>A (p.Ala659=)
|
rs773827934
|
|
|
NM_000271.5(NPC1):c.1980C>T (p.Gly660=)
|
|
|
|
NM_000271.5(NPC1):c.1989C>T (p.Ile663=)
|
rs550696790
|
|
|
NM_000271.5(NPC1):c.198C>T (p.Phe66=)
|
rs1464483708
|
|
|
NM_000271.5(NPC1):c.2001G>T (p.Ser667=)
|
rs762100560
|
|
|
NM_000271.5(NPC1):c.2004G>T (p.Val668=)
|
|
|
|
NM_000271.5(NPC1):c.2010C>T (p.Cys670=)
|
rs2058755824
|
|
|
NM_000271.5(NPC1):c.2013C>T (p.Ser671=)
|
rs1017732790
|
|
|
NM_000271.5(NPC1):c.201C>T (p.Phe67=)
|
|
|
|
NM_000271.5(NPC1):c.2037G>C (p.Gly679=)
|
rs923334902
|
|
|
NM_000271.5(NPC1):c.2043C>G (p.Pro681=)
|
rs754244869
|
|
|
NM_000271.5(NPC1):c.2046G>A (p.Leu682=)
|
rs1598954616
|
|
|
NM_000271.5(NPC1):c.2052C>T (p.Leu684=)
|
rs2145399941
|
|
|
NM_000271.5(NPC1):c.2061T>C (p.Ile687=)
|
|
|
|
NM_000271.5(NPC1):c.2064A>G (p.Glu688=)
|
|
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
|
NM_000271.5(NPC1):c.2083C>T (p.Leu695=)
|
|
|
|
NM_000271.5(NPC1):c.2094A>G (p.Gly698=)
|
rs1598954463
|
|
|
NM_000271.5(NPC1):c.2115G>A (p.Leu705=)
|
|
|
|
NM_000271.5(NPC1):c.2124C>T (p.Ala708=)
|
|
|
|
NM_000271.5(NPC1):c.2127C>T (p.Tyr709=)
|
|
|
|
NM_000271.5(NPC1):c.2130+10C>A
|
rs776389852
|
|
|
NM_000271.5(NPC1):c.2130+11A>G
|
|
|
|
NM_000271.5(NPC1):c.2130+16C>G
|
|
|
|
NM_000271.5(NPC1):c.2130+18C>T
|
|
|
|
NM_000271.5(NPC1):c.2130+20C>A
|
|
|
|
NM_000271.5(NPC1):c.2131-16T>G
|
rs2145395529
|
|
|
NM_000271.5(NPC1):c.2131-20T>A
|
rs915506749
|
|
|
NM_000271.5(NPC1):c.2131-20T>G
|
|
|
|
NM_000271.5(NPC1):c.2131-23_2131-19del
|
|
|
|
NM_000271.5(NPC1):c.2131-23_2131-20del
|
|
|
|
NM_000271.5(NPC1):c.2133A>G (p.Arg711=)
|
|
|
|
NM_000271.5(NPC1):c.2166G>A (p.Gln722=)
|
|
|
|
NM_000271.5(NPC1):c.2169G>A (p.Gln723=)
|
rs2145395069
|
|
|
NM_000271.5(NPC1):c.2170C>T (p.Leu724=)
|
|
|
|
NM_000271.5(NPC1):c.2175C>A (p.Gly725=)
|
rs2058741488
|
|
|
NM_000271.5(NPC1):c.2175C>G (p.Gly725=)
|
rs2058741488
|
|
|
NM_000271.5(NPC1):c.2181C>G (p.Val727=)
|
|
|
|
NM_000271.5(NPC1):c.2182C>T (p.Leu728=)
|
|
|
|
NM_000271.5(NPC1):c.2184A>C (p.Leu728=)
|
rs1396587033
|
|
|
NM_000271.5(NPC1):c.21C>T (p.Ala7=)
|
rs2059418475
|
|
|
NM_000271.5(NPC1):c.2211G>C (p.Leu737=)
|
|
|
|
NM_000271.5(NPC1):c.2217C>T (p.Ser739=)
|
|
|
|
NM_000271.5(NPC1):c.2229T>G (p.Thr743=)
|
rs1029406487
|
|
|
NM_000271.5(NPC1):c.2235A>G (p.Ala745=)
|
|
|
|
NM_000271.5(NPC1):c.2238T>C (p.Phe746=)
|
rs2145394616
|
|
|
NM_000271.5(NPC1):c.2245+12T>C
|
|
|
|
NM_000271.5(NPC1):c.2245+14C>T
|
|
|
|
NM_000271.5(NPC1):c.2245+20T>C
|
|
|
|
NM_000271.5(NPC1):c.2245+9G>C
|
rs2058740364
|
|
|
NM_000271.5(NPC1):c.2246-11C>G
|
|
|
|
NM_000271.5(NPC1):c.2246-11C>T
|
|
|
|
NM_000271.5(NPC1):c.2246-13C>A
|
|
|
|
NM_000271.5(NPC1):c.2246-13C>T
|
|
|
|
NM_000271.5(NPC1):c.2246-14T>C
|
rs747500685
|
|
|
NM_000271.5(NPC1):c.2246-17_2246-16del
|
|
|
|
NM_000271.5(NPC1):c.2246-5G>A
|
rs77289650
|
|
|
NM_000271.5(NPC1):c.2246-5G>C
|
rs77289650
|
|
|
NM_000271.5(NPC1):c.2246-5del
|
rs2145383531
|
|
|
NM_000271.5(NPC1):c.2246-9C>G
|
rs372137658
|
|
|
NM_000271.5(NPC1):c.2246-9C>T
|
|
|
|
NM_000271.5(NPC1):c.2256C>A (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2256C>G (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2256C>T (p.Ser752=)
|
rs199641393
|
|
|
NM_000271.5(NPC1):c.2274C>T (p.His758=)
|
|
|
|
NM_000271.5(NPC1):c.2289T>C (p.Phe763=)
|
rs2058711785
|
|
|
NM_000271.5(NPC1):c.228T>C (p.Asp76=)
|
|
|
|
NM_000271.5(NPC1):c.2296T>C (p.Leu766=)
|
rs1598948918
|
|
|
NM_000271.5(NPC1):c.2316T>C (p.Phe772=)
|
|
|
|
NM_000271.5(NPC1):c.2319T>C (p.Leu773=)
|
rs2145382820
|
|
|
NM_000271.5(NPC1):c.2319T>G (p.Leu773=)
|
rs2145382820
|
|
|
NM_000271.5(NPC1):c.2322G>C (p.Leu774=)
|
rs1173331930
|
|
|
NM_000271.5(NPC1):c.2325G>A (p.Gln775=)
|
rs2145382741
|
|
|
NM_000271.5(NPC1):c.2358C>T (p.Asp786=)
|
|
|
|
NM_000271.5(NPC1):c.2373+13C>T
|
|
|
|
NM_000271.5(NPC1):c.2391C>T (p.Ile797=)
|
|
|
|
NM_000271.5(NPC1):c.2394T>C (p.Phe798=)
|
|
|
|
NM_000271.5(NPC1):c.2400T>C (p.Cys800=)
|
|
|
|
NM_000271.5(NPC1):c.2427C>T (p.Ser809=)
|
|
|
|
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.2430C>T (p.Val810=)
|
|
|
|
NM_000271.5(NPC1):c.2436C>G (p.Ala812=)
|
|
|
|
NM_000271.5(NPC1):c.2436C>T (p.Ala812=)
|
|
|
|
NM_000271.5(NPC1):c.2442G>A (p.Glu814=)
|
|
|
|
NM_000271.5(NPC1):c.2445C>T (p.Ser815=)
|
rs767708998
|
|
|
NM_000271.5(NPC1):c.2460C>T (p.Phe820=)
|
rs764304407
|
|
|
NM_000271.5(NPC1):c.2463C>T (p.Phe821=)
|
rs2145380752
|
|
|
NM_000271.5(NPC1):c.2469C>T (p.Asn823=)
|
rs1433563737
|
|
|
NM_000271.5(NPC1):c.247C>T (p.Leu83=)
|
|
|
|
NM_000271.5(NPC1):c.2496C>T (p.Asp832=)
|
rs748149280
|
|
|
NM_000271.5(NPC1):c.249A>G (p.Leu83=)
|
|
|
|
NM_000271.5(NPC1):c.24T>G (p.Leu8=)
|
|
|
|
NM_000271.5(NPC1):c.2514+10T>C
|
rs763191940
|
|
|
NM_000271.5(NPC1):c.2514+10_2514+14dup
|
|
|
|
NM_000271.5(NPC1):c.2514+14T>G
|
|
|
|
NM_000271.5(NPC1):c.2514+9T>G
|
rs1466320929
|
|
|
NM_000271.5(NPC1):c.2515-20T>C
|
|
|
|
NM_000271.5(NPC1):c.2515-7_2515-5del
|
rs2145378278
|
|
|
NM_000271.5(NPC1):c.2515-8T>C
|
|
|
|
NM_000271.5(NPC1):c.2526T>C (p.Phe842=)
|
|
|
|
NM_000271.5(NPC1):c.2529G>A (p.Val843=)
|
|
|
|
NM_000271.5(NPC1):c.2532T>C (p.Gly844=)
|
rs752998576
|
|
|
NM_000271.5(NPC1):c.2535T>G (p.Val845=)
|
rs2058699211
|
|
|
NM_000271.5(NPC1):c.2550C>T (p.Ile850=)
|
rs542171272
|
|
|
NM_000271.5(NPC1):c.2553A>G (p.Ala851=)
|
|
|
|
NM_000271.5(NPC1):c.2556C>G (p.Val852=)
|
|
|
|
NM_000271.5(NPC1):c.2571_2572delinsCG (p.Ile858Val)
|
|
|
|
NM_000271.5(NPC1):c.2578T>C (p.Leu860=)
|
rs1392853327
|
|
|
NM_000271.5(NPC1):c.2604+11T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+14C>T
|
rs1332752050
|
|
|
NM_000271.5(NPC1):c.2604+14_2604+15del
|
|
|
|
NM_000271.5(NPC1):c.2604+14_2604+17del
|
rs775803617
|
|
|
NM_000271.5(NPC1):c.2604+15T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+19T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+7T>C
|
|
|
|
NM_000271.5(NPC1):c.2604+7_2604+9dup
|
rs762002508
|
|
|
NM_000271.5(NPC1):c.2604+8G>T
|
rs1258459284
|
|
|
NM_000271.5(NPC1):c.2604+9A>C
|
|
|
|
NM_000271.5(NPC1):c.2604+9A>G
|
|
|
|
NM_000271.5(NPC1):c.2605-13A>G
|
|
|
|
NM_000271.5(NPC1):c.2605-15T>C
|
|
|
|
NM_000271.5(NPC1):c.2605-17T>C
|
|
|
|
NM_000271.5(NPC1):c.2605-18_2605-14del
|
rs2058690524
|
|
|
NM_000271.5(NPC1):c.2605-6_2605-3del
|
rs750411155
|
|
|
NM_000271.5(NPC1):c.2605-7C>T
|
|
|
|
NM_000271.5(NPC1):c.2613C>T (p.Tyr871=)
|
|
|
|
NM_000271.5(NPC1):c.261G>A (p.Leu87=)
|
rs2059212498
|
|
|
NM_000271.5(NPC1):c.2646C>T (p.Tyr882=)
|
rs2145373926
|
|
|
NM_000271.5(NPC1):c.2649G>A (p.Leu883=)
|
|
|
|
NM_000271.5(NPC1):c.264G>A (p.Gln88=)
|
rs1599008867
|
|
|
NM_000271.5(NPC1):c.2652T>C (p.His884=)
|
rs779248798
|
|
|
NM_000271.5(NPC1):c.2667G>A (p.Val889=)
|
|
|
|
NM_000271.5(NPC1):c.2670C>T (p.Tyr890=)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2673T>C (p.Phe891=)
|
rs2145373623
|
|
|
NM_000271.5(NPC1):c.267G>A (p.Leu89=)
|
rs761452493
|
|
|
NM_000271.5(NPC1):c.2682G>A (p.Glu894=)
|
|
|
|
NM_000271.5(NPC1):c.2685A>G (p.Glu895=)
|
rs2145373502
|
|
|
NM_000271.5(NPC1):c.2691C>T (p.His897=)
|
rs751259112
|
|
|
NM_000271.5(NPC1):c.2694C>T (p.Asp898=)
|
|
|
|
NM_000271.5(NPC1):c.2703T>C (p.Ser901=)
|
rs2145373359
|
|
|
NM_000271.5(NPC1):c.2706C>T (p.Ser902=)
|
rs2058688184
|
|
|
NM_000271.5(NPC1):c.2712G>T (p.Gly904=)
|
rs560122245
|
|
|
NM_000271.5(NPC1):c.2715G>A (p.Gln905=)
|
|
|
|
NM_000271.5(NPC1):c.2730C>A (p.Gly910=)
|
|
|
|
NM_000271.5(NPC1):c.2730C>T (p.Gly910=)
|
rs749457981
|
|
|
NM_000271.5(NPC1):c.2739C>A (p.Gly913=)
|
rs2058687467
|
|
|
NM_000271.5(NPC1):c.2748T>C (p.Asn916=)
|
|
|
|
NM_000271.5(NPC1):c.2757G>T (p.Leu919=)
|
|
|
|
NM_000271.5(NPC1):c.2760G>A (p.Val920=)
|
rs2145372899
|
|
|
NM_000271.5(NPC1):c.2787G>A (p.Leu929=)
|
|
|
|
NM_000271.5(NPC1):c.2796-15G>A
|
|
|
|
NM_000271.5(NPC1):c.2796-15G>C
|
|
|
|
NM_000271.5(NPC1):c.2796-16TGTC[3]
|
|
|
|
NM_000271.5(NPC1):c.2796-17C>G
|
|
|
|
NM_000271.5(NPC1):c.2796-17C>T
|
|
|
|
NM_000271.5(NPC1):c.2796-18C>G
|
|
|
|
NM_000271.5(NPC1):c.2796-19C>A
|
rs2145371033
|
|
|
NM_000271.5(NPC1):c.2796-4C>G
|
rs374406578
|
|
|
NM_000271.5(NPC1):c.2796-5T>C
|
|
|
|
NM_000271.5(NPC1):c.2796-7T>G
|
rs2145370948
|
|
|
NM_000271.5(NPC1):c.2799C>A (p.Thr933=)
|
rs759606859
|
|
|
NM_000271.5(NPC1):c.2799C>G (p.Thr933=)
|
|
|
|
NM_000271.5(NPC1):c.2808C>T (p.Gly936=)
|
rs1567949544
|
|
|
NM_000271.5(NPC1):c.282G>A (p.Leu94=)
|
|
|
|
NM_000271.5(NPC1):c.2835T>C (p.Asp945=)
|
|
|
|
NM_000271.5(NPC1):c.287+10G>C
|
rs2145544277
|
|
|
NM_000271.5(NPC1):c.287+15G>A
|
|
|
|
NM_000271.5(NPC1):c.287+16G>A
|
|
|
|
NM_000271.5(NPC1):c.287+19A>G
|
|
|
|
NM_000271.5(NPC1):c.2874A>T (p.Arg958=)
|
rs2145370342
|
|
|
NM_000271.5(NPC1):c.288-12del
|
|
|
|
NM_000271.5(NPC1):c.288-14T>A
|
|
|
|
NM_000271.5(NPC1):c.288-14T>C
|
|
|
|
NM_000271.5(NPC1):c.288-17A>T
|
|
|
|
NM_000271.5(NPC1):c.288-8T>C
|
|
|
|
NM_000271.5(NPC1):c.2892C>T (p.Asp964=)
|
rs2145370277
|
|
|
NM_000271.5(NPC1):c.2898C>T (p.Phe966=)
|
rs2145370238
|
|
|
NM_000271.5(NPC1):c.2911+11C>T
|
|
|
|
NM_000271.5(NPC1):c.2911+15_2911+25del
|
|
|
|
NM_000271.5(NPC1):c.2911+17C>T
|
|
|
|
NM_000271.5(NPC1):c.2911+20A>G
|
|
|
|
NM_000271.5(NPC1):c.2911+20del
|
|
|
|
NM_000271.5(NPC1):c.2912-15G>A
|
|
|
|
NM_000271.5(NPC1):c.2912-17C>A
|
|
|
|
NM_000271.5(NPC1):c.2912-18C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-19C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-5G>T
|
rs369985476
|
|
|
NM_000271.5(NPC1):c.2912-7C>T
|
|
|
|
NM_000271.5(NPC1):c.2912-9C>G
|
|
|
|
NM_000271.5(NPC1):c.2937C>T (p.Cys979=)
|
rs199900435
|
|
|
NM_000271.5(NPC1):c.2943T>A (p.Pro981=)
|
rs2145366971
|
|
|
NM_000271.5(NPC1):c.2943T>C (p.Pro981=)
|
rs2145366971
|
|
|
NM_000271.5(NPC1):c.294A>G (p.Pro98=)
|
rs2145527506
|
|
|
NM_000271.5(NPC1):c.2958C>T (p.Gly986=)
|
|
|
|
NM_000271.5(NPC1):c.2961A>G (p.Lys987=)
|
rs2145366840
|
|
|
NM_000271.5(NPC1):c.2967G>A (p.Arg989=)
|
rs2145366791
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
|
NM_000271.5(NPC1):c.2982C>T (p.Asp994=)
|
|
|
|
NM_000271.5(NPC1):c.2995C>T (p.Leu999=)
|
rs2145366501
|
|
|
NM_000271.5(NPC1):c.3000C>T (p.Pro1000=)
|
|
|
|
NM_000271.5(NPC1):c.3006C>T (p.Phe1002=)
|
rs1459424416
|
|
|
NM_000271.5(NPC1):c.3012G>C (p.Ser1004=)
|
rs182413311
|
|
|
NM_000271.5(NPC1):c.3024C>T (p.Asn1008=)
|
rs2145366358
|
|
|
NM_000271.5(NPC1):c.303T>C (p.Phe101=)
|
rs2145527436
|
|
|
NM_000271.5(NPC1):c.3041+11C>T
|
|
|
|
NM_000271.5(NPC1):c.3041+17T>C
|
|
|
|
NM_000271.5(NPC1):c.3041+20C>A
|
|
|
|
NM_000271.5(NPC1):c.3041+8C>G
|
|
|
|
NM_000271.5(NPC1):c.3041+8C>T
|
rs756149557
|
|
|
NM_000271.5(NPC1):c.3041+8del
|
|
|
|
NM_000271.5(NPC1):c.3042-17del
|
|
|
|
NM_000271.5(NPC1):c.3042-4T>G
|
rs772897780
|
|
|
NM_000271.5(NPC1):c.3042-9T>C
|
rs1598939834
|
|
|
NM_000271.5(NPC1):c.3051T>C (p.Ala1017=)
|
rs2145358114
|
|
|
NM_000271.5(NPC1):c.3057T>C (p.Tyr1019=)
|
|
|
|
NM_000271.5(NPC1):c.3081T>C (p.Leu1027=)
|
rs2145357954
|
|
|
NM_000271.5(NPC1):c.3087T>C (p.His1029=)
|
|
|
|
NM_000271.5(NPC1):c.3094A>C (p.Arg1032=)
|
|
|
|
NM_000271.5(NPC1):c.3105C>T (p.Ala1035=)
|
|
|
|
NM_000271.5(NPC1):c.3114C>T (p.Phe1038=)
|
|
|
|
NM_000271.5(NPC1):c.3120C>T (p.Thr1040=)
|
|
|
|
NM_000271.5(NPC1):c.3126C>T (p.His1042=)
|
rs2145357603
|
|
|
NM_000271.5(NPC1):c.312A>G (p.Leu104=)
|
rs2059164993
|
|
|
NM_000271.5(NPC1):c.3133C>T (p.Leu1045=)
|
|
|
|
NM_000271.5(NPC1):c.3141C>G (p.Thr1047=)
|
rs2145357418
|
|
|
NM_000271.5(NPC1):c.3147T>C (p.Ala1049=)
|
|
|
|
NM_000271.5(NPC1):c.3153T>C (p.Phe1051=)
|
|
|
|
NM_000271.5(NPC1):c.3177A>G (p.Arg1059=)
|
|
|
|
NM_000271.5(NPC1):c.3195C>T (p.Val1065=)
|
|
|
|
NM_000271.5(NPC1):c.3210C>T (p.Gly1070=)
|
|
|
|
NM_000271.5(NPC1):c.321G>A (p.Leu107=)
|
rs2145527281
|
|
|
NM_000271.5(NPC1):c.3222T>C (p.Ser1074=)
|
|
|
|
NM_000271.5(NPC1):c.3225C>T (p.Ala1075=)
|
rs2058635723
|
|
|
NM_000271.5(NPC1):c.3240T>G (p.Pro1080=)
|
rs2058635486
|
|
|
NM_000271.5(NPC1):c.3245+12C>T
|
|
|
|
NM_000271.5(NPC1):c.3245+13dup
|
|
|
|
NM_000271.5(NPC1):c.3245+7C>T
|
|
|
|
NM_000271.5(NPC1):c.3245+9T>C
|
|
|
|
NM_000271.5(NPC1):c.3246-12del
|
|
|
|
NM_000271.5(NPC1):c.3246-13C>G
|
|
|
|
NM_000271.5(NPC1):c.3246-13C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-14C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-15C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-5_3246-4delinsCT
|
rs2145352088
|
|
|
NM_000271.5(NPC1):c.3246-6C>T
|
|
|
|
NM_000271.5(NPC1):c.3246-9C>T
|
rs920214522
|
|
|
NM_000271.5(NPC1):c.3249G>T (p.Val1083=)
|
|
|
|
NM_000271.5(NPC1):c.3252T>C (p.Phe1084=)
|
rs2145351993
|
|
|
NM_000271.5(NPC1):c.3255T>C (p.Tyr1085=)
|
rs774602107
|
|
|
NM_000271.5(NPC1):c.3261C>T (p.Phe1087=)
|
rs2145351900
|
|
|
NM_000271.5(NPC1):c.3291C>T (p.Asp1097=)
|
rs2145351679
|
|
|
NM_000271.5(NPC1):c.3297C>A (p.Ile1099=)
|
rs531000417
|
|
|
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=)
|
rs1567945743
|
|
|
NM_000271.5(NPC1):c.3306C>T (p.Leu1102=)
|
rs756938143
|
|
|
NM_000271.5(NPC1):c.3309T>A (p.Gly1103=)
|
rs1598937342
|
|
|
NM_000271.5(NPC1):c.3315C>T (p.Ser1105=)
|
rs2145351336
|
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
|
NM_000271.5(NPC1):c.3321C>T (p.Gly1107=)
|
|
|
|
NM_000271.5(NPC1):c.3336G>A (p.Val1112=)
|
rs2145351090
|
|
|
NM_000271.5(NPC1):c.3339C>T (p.Thr1113=)
|
|
|
|
NM_000271.5(NPC1):c.333G>A (p.Leu111=)
|
|
|
|
NM_000271.5(NPC1):c.333G>C (p.Leu111=)
|
|
|
|
NM_000271.5(NPC1):c.3354C>T (p.Gly1118=)
|
|
|
|
NM_000271.5(NPC1):c.3363C>G (p.Leu1121=)
|
|
|
|
NM_000271.5(NPC1):c.336A>G (p.Thr112=)
|
|
|
|
NM_000271.5(NPC1):c.3378C>T (p.Ile1126=)
|
rs777004814
|
|
|
NM_000271.5(NPC1):c.3387C>T (p.Ala1129=)
|
rs746670383
|
|
|
NM_000271.5(NPC1):c.3396C>T (p.Ala1132=)
|
|
|
|
NM_000271.5(NPC1):c.339T>C (p.Cys113=)
|
|
|
|
NM_000271.5(NPC1):c.3408C>T (p.Val1136=)
|
rs2145350422
|
|
|
NM_000271.5(NPC1):c.3417T>C (p.Phe1139=)
|
rs2145350366
|
|
|
NM_000271.5(NPC1):c.3420A>G (p.Gly1140=)
|
rs2145350342
|
|
|
NM_000271.5(NPC1):c.3423T>G (p.Val1141=)
|
rs2145350308
|
|
|
NM_000271.5(NPC1):c.3432C>T (p.Leu1144=)
|
rs191526202
|
|
|
NM_000271.5(NPC1):c.3445C>T (p.Leu1149=)
|
|
|
|
NM_000271.5(NPC1):c.3453T>A (p.Ala1151=)
|
|
|
|
NM_000271.5(NPC1):c.3456A>G (p.Val1152=)
|
|
|
|
NM_000271.5(NPC1):c.3471G>C (p.Leu1157=)
|
rs761086903
|
|
|
NM_000271.5(NPC1):c.3477+10C>G
|
|
|
|
NM_000271.5(NPC1):c.3477+10C>T
|
rs2058614679
|
|
|
NM_000271.5(NPC1):c.3477+12T>C
|
|
|
|
NM_000271.5(NPC1):c.3477+12T>G
|
|
|
|
NM_000271.5(NPC1):c.3477+13A>T
|
rs747652954
|
|
|
NM_000271.5(NPC1):c.3477+14_3477+15del
|
|
|
|
NM_000271.5(NPC1):c.3477+17T>C
|
|
|
|
NM_000271.5(NPC1):c.3477+20C>A
|
rs2145349664
|
|
|
NM_000271.5(NPC1):c.3477+20C>T
|
|
|
|
NM_000271.5(NPC1):c.3477+20_3477+25del
|
|
|
|
NM_000271.5(NPC1):c.3477+8C>T
|
rs2145349810
|
|
|
NM_000271.5(NPC1):c.3478-11C>A
|
|
|
|
NM_000271.5(NPC1):c.3478-12G>A
|
|
|
|
NM_000271.5(NPC1):c.3478-15A>C
|
|
|
|
NM_000271.5(NPC1):c.3478-15A>G
|
|
|
|
NM_000271.5(NPC1):c.3478-16A>T
|
rs2145344187
|
|
|
NM_000271.5(NPC1):c.3478-4T>C
|
|
|
|
NM_000271.5(NPC1):c.3478-8T>C
|
|
|
|
NM_000271.5(NPC1):c.3495G>A (p.Val1165=)
|
|
|
|
NM_000271.5(NPC1):c.34C>T (p.Leu12=)
|
|
|
|
NM_000271.5(NPC1):c.3504C>T (p.Cys1168=)
|
rs2145343803
|
|
|
NM_000271.5(NPC1):c.3531G>A (p.Val1177=)
|
rs758582034
|
|
|
NM_000271.5(NPC1):c.3543C>A (p.Gly1181=)
|
|
|
|
NM_000271.5(NPC1):c.3558C>G (p.Arg1186=)
|
rs141659629
|
|
|
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.3570A>G (p.Ala1190=)
|
rs1410662516
|
|
|
NM_000271.5(NPC1):c.3576C>T (p.Ala1192=)
|
|
|
|
NM_000271.5(NPC1):c.3588C>T (p.Ser1196=)
|
rs1417460843
|
|
|
NM_000271.5(NPC1):c.3591+121C>A
|
|
|
|
NM_000271.5(NPC1):c.3591+12G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+14G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+14_3591+15dup
|
|
|
|
NM_000271.5(NPC1):c.3591+16A>G
|
rs781750226
|
|
|
NM_000271.5(NPC1):c.3591+17G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+17G>C
|
|
|
|
NM_000271.5(NPC1):c.3591+18G>T
|
|
|
|
NM_000271.5(NPC1):c.3591+19G>A
|
|
|
|
NM_000271.5(NPC1):c.3591+20C>T
|
|
|
|
NM_000271.5(NPC1):c.3591+9C>G
|
|
|
|
NM_000271.5(NPC1):c.3592-10C>A
|
|
|
|
NM_000271.5(NPC1):c.3592-12C>T
|
|
|
|
NM_000271.5(NPC1):c.3592-14A>C
|
rs781517101
|
|
|
NM_000271.5(NPC1):c.3592-14A>T
|
rs781517101
|
|
|
NM_000271.5(NPC1):c.3592-20C>T
|
|
|
|
NM_000271.5(NPC1):c.3592-4T>C
|
rs2145336521
|
|
|
NM_000271.5(NPC1):c.3592-6T>C
|
|
|
|
NM_000271.5(NPC1):c.3592-9T>C
|
|
|
|
NM_000271.5(NPC1):c.3597C>T (p.Phe1199=)
|
|
|
|
NM_000271.5(NPC1):c.360T>C (p.Phe120=)
|
|
|
|
NM_000271.5(NPC1):c.3648C>T (p.Ala1216=)
|
|
|
|
NM_000271.5(NPC1):c.3651A>G (p.Lys1217=)
|
rs2058572770
|
|
|
NM_000271.5(NPC1):c.3654T>C (p.Ser1218=)
|
|
|
|
NM_000271.5(NPC1):c.3657A>G (p.Gln1219=)
|
|
|
|
NM_000271.5(NPC1):c.3666G>A (p.Gln1222=)
|
rs2058572490
|
|
|
NM_000271.5(NPC1):c.3669A>T (p.Ile1223=)
|
|
|
|
NM_000271.5(NPC1):c.3679A>C (p.Arg1227=)
|
rs772924731
|
|
|
NM_000271.5(NPC1):c.3681G>A (p.Arg1227=)
|
rs1363776523
|
|
|
NM_000271.5(NPC1):c.3690G>A (p.Leu1230=)
|
rs2145335755
|
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
|
NM_000271.5(NPC1):c.36G>A (p.Leu12=)
|
rs1599033687
|
|
|
NM_000271.5(NPC1):c.3703C>T (p.Leu1235=)
|
rs2145335698
|
|
|
NM_000271.5(NPC1):c.3705G>T (p.Leu1235=)
|
rs2145335683
|
|
|
NM_000271.5(NPC1):c.372A>G (p.Thr124=)
|
rs748125983
|
|
|
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=)
|
rs1621962
|
|
|
NM_000271.5(NPC1):c.3754+10C>T
|
rs2145335243
|
|
|
NM_000271.5(NPC1):c.3754+11T>C
|
|
|
|
NM_000271.5(NPC1):c.3754+12C>T
|
|
|
|
NM_000271.5(NPC1):c.3754+13A>G
|
|
|
|
NM_000271.5(NPC1):c.3754+13A>T
|
|
|
|
NM_000271.5(NPC1):c.3754+14T>C
|
|
|
|
NM_000271.5(NPC1):c.3754+19A>C
|
|
|
|
NM_000271.5(NPC1):c.3755-12T>C
|
|
|
|
NM_000271.5(NPC1):c.3755-13C>G
|
|
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
|
NM_000271.5(NPC1):c.3755-18del
|
|
|
|
NM_000271.5(NPC1):c.3755-19_3755-18del
|
rs932568903
|
|
|
NM_000271.5(NPC1):c.3755-22_3755-17del
|
rs1309874755
|
|
|
NM_000271.5(NPC1):c.3755-5C>T
|
|
|
|
NM_000271.5(NPC1):c.3755-7C>G
|
rs2145326430
|
|
|
NM_000271.5(NPC1):c.3756G>A (p.Gly1252=)
|
|
|
|
NM_000271.5(NPC1):c.3759A>G (p.Pro1253=)
|
|
|
|
NM_000271.5(NPC1):c.3762A>G (p.Ser1254=)
|
|
|
|
NM_000271.5(NPC1):c.3768T>C (p.Asn1256=)
|
|
|
|
NM_000271.5(NPC1):c.3789T>C (p.Thr1263=)
|
|
|
|
NM_000271.5(NPC1):c.3792A>G (p.Glu1264=)
|
|
|
|
NM_000271.5(NPC1):c.3798A>C (p.Arg1266=)
|
|
|
|
NM_000271.5(NPC1):c.3801C>T (p.Tyr1267=)
|
rs2145325599
|
|
|
NM_000271.5(NPC1):c.3813G>A (p.Glu1271=)
|
|
|
|
NM_000271.5(NPC1):c.381A>G (p.Glu127=)
|
|
|
|
NM_000271.5(NPC1):c.3822G>C (p.Arg1274=)
|
|
|
|
NM_000271.5(NPC1):c.399T>C (p.Val133=)
|
rs2059163520
|
|
|
NM_000271.5(NPC1):c.39G>A (p.Leu13=)
|
|
|
|
NM_000271.5(NPC1):c.408G>A (p.Gln136=)
|
|
|
|
NM_000271.5(NPC1):c.420T>C (p.Asn140=)
|
rs369039319
|
|
|
NM_000271.5(NPC1):c.423G>A (p.Val141=)
|
|
|
|
NM_000271.5(NPC1):c.432A>G (p.Leu144=)
|
|
|
|
NM_000271.5(NPC1):c.435A>G (p.Gln145=)
|
rs746389947
|
|
|
NM_000271.5(NPC1):c.444C>G (p.Val148=)
|
rs899764342
|
|
|
NM_000271.5(NPC1):c.447A>G (p.Gly149=)
|
|
|
|
NM_000271.5(NPC1):c.463+11T>C
|
|
|
|
NM_000271.5(NPC1):c.463+13T>C
|
|
|
|
NM_000271.5(NPC1):c.463+13_463+14del
|
rs777614426
|
|
|
NM_000271.5(NPC1):c.463+7A>G
|
rs2145526194
|
|
|
NM_000271.5(NPC1):c.463+7A>T
|
rs2145526194
|
|
|
NM_000271.5(NPC1):c.464-11T>G
|
|
|
|
NM_000271.5(NPC1):c.464-12T>C
|
|
|
|
NM_000271.5(NPC1):c.464-12T>G
|
|
|
|
NM_000271.5(NPC1):c.464-17T>C
|
|
|
|
NM_000271.5(NPC1):c.464-17T>G
|
|
|
|
NM_000271.5(NPC1):c.464-19T>G
|
|
|
|
NM_000271.5(NPC1):c.464-7C>T
|
|
|
|
NM_000271.5(NPC1):c.464-9C>G
|
rs746194096
|
|
|
NM_000271.5(NPC1):c.477C>T (p.Ala159=)
|
rs2145485629
|
|
|
NM_000271.5(NPC1):c.480C>T (p.Cys160=)
|
|
|
|
NM_000271.5(NPC1):c.483G>A (p.Arg161=)
|
|
|
|
NM_000271.5(NPC1):c.498C>T (p.Pro166=)
|
|
|
|
NM_000271.5(NPC1):c.501A>T (p.Ser167=)
|
rs202148667
|
|
|
NM_000271.5(NPC1):c.510C>T (p.Asp170=)
|
rs887908568
|
|
|
NM_000271.5(NPC1):c.525C>A (p.Leu175=)
|
|
|
|
NM_000271.5(NPC1):c.525C>T (p.Leu175=)
|
|
|
|
NM_000271.5(NPC1):c.528G>A (p.Leu176=)
|
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.549C>T (p.Ala183=)
|
|
|
|
NM_000271.5(NPC1):c.54G>A (p.Ala18=)
|
rs2145603628
|
|
|
NM_000271.5(NPC1):c.54G>T (p.Ala18=)
|
|
|
|
NM_000271.5(NPC1):c.558C>T (p.Ala186=)
|
|
|
|
NM_000271.5(NPC1):c.57+12C>G
|
|
|
|
NM_000271.5(NPC1):c.57+16C>T
|
|
|
|
NM_000271.5(NPC1):c.57+19C>A
|
|
|
|
NM_000271.5(NPC1):c.57+20C>T
|
rs1555645565
|
|
|
NM_000271.5(NPC1):c.57+7G>T
|
|
|
|
NM_000271.5(NPC1):c.57+8G>A
|
rs2145603587
|
|
|
NM_000271.5(NPC1):c.58-14T>C
|
|
|
|
NM_000271.5(NPC1):c.58-15G>A
|
|
|
|
NM_000271.5(NPC1):c.58-15G>T
|
|
|
|
NM_000271.5(NPC1):c.58-16T>C
|
|
|
|
NM_000271.5(NPC1):c.58-7del
|
rs2145552580
|
|
|
NM_000271.5(NPC1):c.585T>C (p.Asn195=)
|
|
|
|
NM_000271.5(NPC1):c.588G>A (p.Lys196=)
|
rs2145484736
|
|
|
NM_000271.5(NPC1):c.594T>C (p.Asn198=)
|
rs2145484696
|
|
|
NM_000271.5(NPC1):c.597A>G (p.Gly199=)
|
|
|
|
NM_000271.5(NPC1):c.606T>C (p.Pro202=)
|
rs1598986724
|
|
|
NM_000271.5(NPC1):c.60G>A (p.Val20=)
|
|
|
|
NM_000271.5(NPC1):c.631+10A>G
|
rs2145484423
|
|
|
NM_000271.5(NPC1):c.631+13A>G
|
|
|
|
NM_000271.5(NPC1):c.631+16C>G
|
|
|
|
NM_000271.5(NPC1):c.631+18A>G
|
|
|
|
NM_000271.5(NPC1):c.631+20G>C
|
rs761048830
|
|
|
NM_000271.5(NPC1):c.632-10C>T
|
rs952084518
|
|
|
NM_000271.5(NPC1):c.632-11C>G
|
|
|
|
NM_000271.5(NPC1):c.632-16C>T
|
|
|
|
NM_000271.5(NPC1):c.632-4G>A
|
rs757177354
|
|
|
NM_000271.5(NPC1):c.632-5T>C
|
rs2145481075
|
|
|
NM_000271.5(NPC1):c.632-6C>T
|
|
|
|
NM_000271.5(NPC1):c.642C>T (p.Val214=)
|
|
|
|
NM_000271.5(NPC1):c.645T>C (p.His215=)
|
|
|
|
NM_000271.5(NPC1):c.657C>T (p.Pro219=)
|
rs760983826
|
|
|
NM_000271.5(NPC1):c.669C>A (p.Ala223=)
|
|
|
|
NM_000271.5(NPC1):c.678C>T (p.Gly226=)
|
|
|
|
NM_000271.5(NPC1):c.681T>C (p.Cys227=)
|
rs2059021939
|
|
|
NM_000271.5(NPC1):c.687G>A (p.Glu229=)
|
rs1229968387
|
|
|
NM_000271.5(NPC1):c.6C>G (p.Thr2=)
|
|
|
|
NM_000271.5(NPC1):c.702C>T (p.Val234=)
|
|
|
|
NM_000271.5(NPC1):c.705A>G (p.Thr235=)
|
|
|
|
NM_000271.5(NPC1):c.711A>G (p.Pro237=)
|
|
|
|
NM_000271.5(NPC1):c.720C>T (p.Cys240=)
|
|
|
|
NM_000271.5(NPC1):c.723A>G (p.Gln241=)
|
rs1445528921
|
|
|
NM_000271.5(NPC1):c.735T>C (p.Ile245=)
|
rs2145480361
|
|
|
NM_000271.5(NPC1):c.738C>T (p.Val246=)
|
|
|
|
NM_000271.5(NPC1):c.741T>C (p.Cys247=)
|
rs2145480310
|
|
|
NM_000271.5(NPC1):c.753C>A (p.Pro251=)
|
|
|
|
NM_000271.5(NPC1):c.753C>G (p.Pro251=)
|
|
|
|
NM_000271.5(NPC1):c.765T>A (p.Pro255=)
|
|
|
|
NM_000271.5(NPC1):c.771T>G (p.Pro257=)
|
rs769403499
|
|
|
NM_000271.5(NPC1):c.783G>C (p.Thr261=)
|
rs770731602
|
|
|
NM_000271.5(NPC1):c.789T>C (p.Leu263=)
|
|
|
|
NM_000271.5(NPC1):c.792C>G (p.Gly264=)
|
|
|
|
NM_000271.5(NPC1):c.792C>T (p.Gly264=)
|
|
|
|
NM_000271.5(NPC1):c.793T>C (p.Leu265=)
|
|
|
|
NM_000271.5(NPC1):c.801C>T (p.Ala267=)
|
|
|
|
NM_000271.5(NPC1):c.825C>T (p.Thr275=)
|
rs1291859932
|
|
|
NM_000271.5(NPC1):c.828C>T (p.Tyr276=)
|
rs2145479742
|
|
|
NM_000271.5(NPC1):c.846G>A (p.Val282=)
|
|
|
|
NM_000271.5(NPC1):c.84T>C (p.Tyr28=)
|
rs2145552359
|
|
|
NM_000271.5(NPC1):c.852T>C (p.Phe284=)
|
rs2145479572
|
|
|
NM_000271.5(NPC1):c.861T>C (p.Phe287=)
|
|
|
|
NM_000271.5(NPC1):c.881+15T>C
|
|
|
|
NM_000271.5(NPC1):c.881+15_881+18del
|
|
|
|
NM_000271.5(NPC1):c.882-18_882-16del
|
|
|
|
NM_000271.5(NPC1):c.882-19C>T
|
|
|
|
NM_000271.5(NPC1):c.882-9G>T
|
rs1598978686
|
|
|
NM_000271.5(NPC1):c.882-9del
|
|
|
|
NM_000271.5(NPC1):c.90G>A (p.Glu30=)
|
rs1273070261
|
|
|
NM_000271.5(NPC1):c.924T>C (p.Asn308=)
|
|
|
|
NM_000271.5(NPC1):c.942T>C (p.Asn314=)
|
rs2058965486
|
|
|
NM_000271.5(NPC1):c.951C>T (p.Asp317=)
|
rs779526299
|
|
|
NM_000271.5(NPC1):c.955+17A>G
|
|
|
|
NM_000271.5(NPC1):c.955+18T>C
|
|
|
|
NM_000271.5(NPC1):c.955+19G>A
|
rs2145461537
|
|
|
NM_000271.5(NPC1):c.955+7A>G
|
|
|
|
NM_000271.5(NPC1):c.955+8T>C
|
|
|
|
NM_000271.5(NPC1):c.956-12C>T
|
|
|
|
NM_000271.5(NPC1):c.956-14_956-13del
|
|
|
|
NM_000271.5(NPC1):c.956-16T>C
|
|
|
|
NM_000271.5(NPC1):c.956-4C>A
|
rs2145458780
|
|
|
NM_000271.5(NPC1):c.956-4C>G
|
rs2145458780
|
|
|
NM_000271.5(NPC1):c.956-7C>T
|
rs537484682
|
|
|
NM_000271.5(NPC1):c.960G>A (p.Glu320=)
|
|
|
|
NM_000271.5(NPC1):c.963G>T (p.Ala321=)
|
|
|
|
NM_000271.5(NPC1):c.966C>G (p.Ser322=)
|
rs61731965
|
|
|
NM_000271.5(NPC1):c.975C>T (p.Asp325=)
|
|
|
|
NM_000271.5(NPC1):c.978T>C (p.Pro326=)
|
rs2145458556
|
|
|
NM_000271.5(NPC1):c.981C>T (p.Val327=)
|
|
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
|
NM_000271.5(NPC1):c.999C>T (p.Gly333=)
|
|
|
|
NM_000543.5(SMPD1):c.1020C>T (p.Ser340=)
|
rs1590740483
|
|
|
NM_000543.5(SMPD1):c.1038G>A (p.Ala346=)
|
rs781107025
|
|
|
NM_000543.5(SMPD1):c.1038G>T (p.Ala346=)
|
rs781107025
|
|
|
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=)
|
rs555187617
|
|
|
NM_000543.5(SMPD1):c.1059C>A (p.Pro353=)
|
rs1444697663
|
|
|
NM_000543.5(SMPD1):c.105G>C (p.Leu35=)
|
rs2134005231
|
|
|
NM_000543.5(SMPD1):c.1071C>G (p.Ala357=)
|
|
|
|
NM_000543.5(SMPD1):c.107_108delinsCT (p.Val36Ala)
|
rs2134005319
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
|
NM_000543.5(SMPD1):c.107_130del (p.Val36_Leu43del)
|
rs550067660
|
|
|
NM_000543.5(SMPD1):c.1083C>A (p.Arg361=)
|
|
|
|
NM_000543.5(SMPD1):c.108G>T (p.Val36=)
|
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.1091+13C>G
|
|
|
|
NM_000543.5(SMPD1):c.1091+14G>A
|
|
|
|
NM_000543.5(SMPD1):c.1091+20A>T
|
|
|
|
NM_000543.5(SMPD1):c.1091+8T>G
|
rs1564924727
|
|
|
NM_000543.5(SMPD1):c.1091+8del
|
rs1475406727
|
|
|
NM_000543.5(SMPD1):c.1091+9C>G
|
rs143612450
|
|
|
NM_000543.5(SMPD1):c.1092-10_1092-3dup
|
|
|
|
NM_000543.5(SMPD1):c.1092-14T>A
|
|
|
|
NM_000543.5(SMPD1):c.1092-18_1092-17del
|
|
|
|
NM_000543.5(SMPD1):c.1092-7G>A
|
rs1848012858
|
|
|
NM_000543.5(SMPD1):c.1092-9T>C
|
|
|
|
NM_000543.5(SMPD1):c.1098G>A (p.Gly366=)
|
|
|
|
NM_000543.5(SMPD1):c.1098G>C (p.Gly366=)
|
|
|
|
NM_000543.5(SMPD1):c.1101G>A (p.Gly367=)
|
|
|
|
NM_000543.5(SMPD1):c.1101G>C (p.Gly367=)
|
rs1302267359
|
|
|
NM_000543.5(SMPD1):c.1110T>C (p.Ala370=)
|
rs2134017024
|
|
|
NM_000543.5(SMPD1):c.1122C>T (p.Tyr374=)
|
rs1848015403
|
|
|
NM_000543.5(SMPD1):c.1125C>G (p.Pro375=)
|
|
|
|
NM_000543.5(SMPD1):c.1137C>T (p.Leu379=)
|
rs1848016999
|
|
|
NM_000543.5(SMPD1):c.1149T>C (p.Asn383=)
|
|
|
|
NM_000543.5(SMPD1):c.114G>T (p.Ala38=)
|
rs1195507316
|
|
|
NM_000543.5(SMPD1):c.115C>T (p.Leu39=)
|
rs1847864154
|
|
|
NM_000543.5(SMPD1):c.1167T>C (p.Arg389=)
|
rs1162794351
|
|
|
NM_000543.5(SMPD1):c.1182C>A (p.Leu394=)
|
rs2134017489
|
|
|
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=)
|
rs766418804
|
|
|
NM_000543.5(SMPD1):c.1194C>T (p.Ser398=)
|
rs967970847
|
|
|
NM_000543.5(SMPD1):c.1203C>G (p.Pro401=)
|
|
|
|
NM_000543.5(SMPD1):c.1206A>G (p.Ala402=)
|
rs2134017637
|
|
|
NM_000543.5(SMPD1):c.120G>T (p.Ala40=)
|
|
|
|
NM_000543.5(SMPD1):c.1224G>A (p.Leu408=)
|
rs1448718304
|
|
|
NM_000543.5(SMPD1):c.1227G>A (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.1227G>C (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.1227G>T (p.Val409=)
|
rs768283171
|
|
|
NM_000543.5(SMPD1):c.1242T>A (p.Ala414=)
|
|
|
|
NM_000543.5(SMPD1):c.1251T>C (p.Asp417=)
|
rs2134017998
|
|
|
NM_000543.5(SMPD1):c.1254A>G (p.Arg418=)
|
rs2134018038
|
|
|
NM_000543.5(SMPD1):c.1257A>C (p.Gly419=)
|
rs2134018068
|
|
|
NM_000543.5(SMPD1):c.1263+9C>T
|
|
|
|
NM_000543.5(SMPD1):c.1264-10T>C
|
rs2134019281
|
|
|
NM_000543.5(SMPD1):c.1264-14del
|
|
|
|
NM_000543.5(SMPD1):c.1264-19C>G
|
|
|
|
NM_000543.5(SMPD1):c.1264-4C>T
|
|
|
|
NM_000543.5(SMPD1):c.1264-5A>G
|
rs538875655
|
|
|
NM_000543.5(SMPD1):c.1264-7del
|
rs2134019299
|
|
|
NM_000543.5(SMPD1):c.1264-9C>T
|
|
|
|
NM_000543.5(SMPD1):c.126G>T (p.Ala42=)
|
|
|
|
NM_000543.5(SMPD1):c.1290A>G (p.Pro430=)
|
|
|
|
NM_000543.5(SMPD1):c.1323T>C (p.Tyr441=)
|
rs2134019686
|
|
|
NM_000543.5(SMPD1):c.1327C>A (p.Arg443=)
|
|
|
|
NM_000543.5(SMPD1):c.1340+11G>T
|
|
|
|
NM_000543.5(SMPD1):c.1340+17G>C
|
|
|
|
NM_000543.5(SMPD1):c.1340+18G>A
|
|
|
|
NM_000543.5(SMPD1):c.1340+20G>A
|
|
|
|
NM_000543.5(SMPD1):c.1340+9G>C
|
rs2134019834
|
|
|
NM_000543.5(SMPD1):c.1341-12C>T
|
|
|
|
NM_000543.5(SMPD1):c.1341-13A>G
|
|
|
|
NM_000543.5(SMPD1):c.1341-15del
|
|
|
|
NM_000543.5(SMPD1):c.1341-19T>C
|
|
|
|
NM_000543.5(SMPD1):c.1341-20A>G
|
|
|
|
NM_000543.5(SMPD1):c.1341-6G>T
|
rs2134020897
|
|
|
NM_000543.5(SMPD1):c.1341-7T>C
|
|
|
|
NM_000543.5(SMPD1):c.135G>A (p.Leu45=)
|
|
|
|
NM_000543.5(SMPD1):c.135G>T (p.Leu45=)
|
rs150867628
|
|
|
NM_000543.5(SMPD1):c.1371T>C (p.Phe457=)
|
rs765658453
|
|
|
NM_000543.5(SMPD1):c.1386G>C (p.Val462=)
|
rs763521056
|
|
|
NM_000543.5(SMPD1):c.138G>A (p.Ala46=)
|
rs200763765
|
|
|
NM_000543.5(SMPD1):c.138G>C (p.Ala46=)
|
rs200763765
|
|
|
NM_000543.5(SMPD1):c.1407T>C (p.Tyr469=)
|
rs2134021313
|
|
|
NM_000543.5(SMPD1):c.1422G>A (p.Leu474=)
|
|
|
|
NM_000543.5(SMPD1):c.1426C>A (p.Arg476=)
|
rs182812968
|
|
|
NM_000543.5(SMPD1):c.1440A>C (p.Val480=)
|
|
|
|
NM_000543.5(SMPD1):c.1443C>T (p.Ala481=)
|
|
|
|
NM_000543.5(SMPD1):c.1447C>T (p.Leu483=)
|
|
|
|
NM_000543.5(SMPD1):c.1449G>A (p.Leu483=)
|
|
|
|
NM_000543.5(SMPD1):c.144T>G (p.Ala48=)
|
|
|
|
NM_000543.5(SMPD1):c.1464T>A (p.Thr488=)
|
rs2134021666
|
|
|
NM_000543.5(SMPD1):c.1467C>G (p.Thr489=)
|
|
|
|
NM_000543.5(SMPD1):c.1467C>T (p.Thr489=)
|
rs1848065214
|
|
|
NM_000543.5(SMPD1):c.1470C>T (p.Tyr490=)
|
rs1848065468
|
|
|
NM_000543.5(SMPD1):c.1473C>A (p.Ile491=)
|
|
|
|
NM_000543.5(SMPD1):c.147G>A (p.Leu49=)
|
|
|
|
NM_000543.5(SMPD1):c.1486+10G>A
|
rs2134021948
|
|
|
NM_000543.5(SMPD1):c.1486+11dup
|
|
|
|
NM_000543.5(SMPD1):c.1486+17G>T
|
|
|
|
NM_000543.5(SMPD1):c.1486+18G>C
|
|
|
|
NM_000543.5(SMPD1):c.1486+19A>G
|
|
|
|
NM_000543.5(SMPD1):c.1486+7G>A
|
rs748435634
|
|
|
NM_000543.5(SMPD1):c.1487-11C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-13C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-14C>G
|
|
|
|
NM_000543.5(SMPD1):c.1487-15C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-19C>A
|
|
|
|
NM_000543.5(SMPD1):c.1487-19C>T
|
|
|
|
NM_000543.5(SMPD1):c.1487-5T>C
|
|
|
|
NM_000543.5(SMPD1):c.1488T>C (p.Gly496=)
|
|
|
|
NM_000543.5(SMPD1):c.1509T>C (p.Asp503=)
|
|
|
|
NM_000543.5(SMPD1):c.150T>C (p.Ser50=)
|
rs1847868322
|
|
|
NM_000543.5(SMPD1):c.1518C>T (p.Tyr506=)
|
|
|
|
NM_000543.5(SMPD1):c.1521C>G (p.Ser507=)
|
rs149423664
|
|
|
NM_000543.5(SMPD1):c.1524G>A (p.Gly508=)
|
rs1312013224
|
|
|
NM_000543.5(SMPD1):c.1533C>T (p.His511=)
|
rs540422105
|
|
|
NM_000543.5(SMPD1):c.1539C>T (p.Val513=)
|
rs368806984
|
|
|
NM_000543.5(SMPD1):c.153C>T (p.Asp51=)
|
|
|
|
NM_000543.5(SMPD1):c.1542G>C (p.Leu514=)
|
|
|
|
NM_000543.5(SMPD1):c.1545C>T (p.Asp515=)
|
rs2134023030
|
|
|
NM_000543.5(SMPD1):c.1548T>C (p.His516=)
|
rs1590747902
|
|
|
NM_000543.5(SMPD1):c.1554C>T (p.Thr518=)
|
|
|
|
NM_000543.5(SMPD1):c.1557C>T (p.Tyr519=)
|
rs756192072
|
|
|
NM_000543.5(SMPD1):c.1563G>A (p.Leu521=)
|
rs749496647
|
|
|
NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)
|
|
|
|
NM_000543.5(SMPD1):c.1569G>C (p.Leu523=)
|
rs1848085572
|
|
|
NM_000543.5(SMPD1):c.156T>C (p.Ser52=)
|
|
|
|
NM_000543.5(SMPD1):c.1572C>G (p.Thr524=)
|
rs376815723
|
|
|
NM_000543.5(SMPD1):c.1572C>T (p.Thr524=)
|
|
|
|
NM_000543.5(SMPD1):c.1581C>T (p.Asn527=)
|
|
|
|
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)
|
rs886048447
|
|
|
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=)
|
rs1181161932
|
|
|
NM_000543.5(SMPD1):c.162T>C (p.Val54=)
|
|
|
|
NM_000543.5(SMPD1):c.1635T>C (p.Tyr545=)
|
rs1403217094
|
|
|
NM_000543.5(SMPD1):c.1638G>A (p.Gly546=)
|
|
|
|
NM_000543.5(SMPD1):c.1641G>A (p.Leu547=)
|
|
|
|
NM_000543.5(SMPD1):c.1644C>A (p.Pro548=)
|
rs2134023668
|
|
|
NM_000543.5(SMPD1):c.1644C>T (p.Pro548=)
|
rs2134023668
|
|
|
NM_000543.5(SMPD1):c.1647C>T (p.Asn549=)
|
rs1380885433
|
|
|
NM_000543.5(SMPD1):c.1662C>T (p.Ala554=)
|
rs2134023747
|
|
|
NM_000543.5(SMPD1):c.1672C>T (p.Leu558=)
|
rs772613617
|
|
|
NM_000543.5(SMPD1):c.1674G>A (p.Leu558=)
|
|
|
|
NM_000543.5(SMPD1):c.1683C>T (p.Arg561=)
|
|
|
|
NM_000543.5(SMPD1):c.1710G>A (p.Gln570=)
|
rs767055403
|
|
|
NM_000543.5(SMPD1):c.1713C>T (p.Thr571=)
|
rs1590748569
|
|
|
NM_000543.5(SMPD1):c.171T>C (p.Ala57=)
|
|
|
|
NM_000543.5(SMPD1):c.1734G>A (p.Lys578=)
|
|
|
|
NM_000543.5(SMPD1):c.1740C>T (p.His580=)
|
|
|
|
NM_000543.5(SMPD1):c.174G>C (p.Pro58=)
|
|
|
|
NM_000543.5(SMPD1):c.1761C>T (p.Gly587=)
|
|
|
|
NM_000543.5(SMPD1):c.1770C>T (p.Cys590=)
|
rs1590748718
|
|
|
NM_000543.5(SMPD1):c.1773T>A (p.Arg591=)
|
|
|
|
NM_000543.5(SMPD1):c.1776G>A (p.Leu592=)
|
|
|
|
NM_000543.5(SMPD1):c.1776G>T (p.Leu592=)
|
rs1848098515
|
|
|
NM_000543.5(SMPD1):c.1785T>G (p.Leu595=)
|
rs2134024361
|
|
|
NM_000543.5(SMPD1):c.1791C>T (p.Ala597=)
|
rs2134024385
|
|
|
NM_000543.5(SMPD1):c.1806T>C (p.Arg602=)
|
rs1320920094
|
|
|
NM_000543.5(SMPD1):c.1809T>A (p.Ala603=)
|
|
|
|
NM_000543.5(SMPD1):c.1815C>T (p.Ser605=)
|
rs2134024538
|
|
|
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=)
|
rs1564928040
|
|
|
NM_000543.5(SMPD1):c.1830C>A (p.Arg610=)
|
|
|
|
NM_000543.5(SMPD1):c.1854C>T (p.Leu618=)
|
|
|
|
NM_000543.5(SMPD1):c.186C>T (p.His62=)
|
rs1235402970
|
|
|
NM_000543.5(SMPD1):c.1881G>A (p.Arg627=)
|
|
|
|
NM_000543.5(SMPD1):c.1887G>A (p.Leu629=)
|
|
|
|
NM_000543.5(SMPD1):c.1890T>C (p.Phe630=)
|
rs1848105786
|
|
|
NM_000543.5(SMPD1):c.210T>C (p.Pro70=)
|
|
|
|
NM_000543.5(SMPD1):c.213C>T (p.Ala71=)
|
|
|
|
NM_000543.5(SMPD1):c.234C>G (p.Pro78=)
|
|
|
|
NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
|
|
|
|
NM_000543.5(SMPD1):c.255G>A (p.Gly85=)
|
rs1554933929
|
|
|
NM_000543.5(SMPD1):c.255G>C (p.Gly85=)
|
rs1554933929
|
|
|
NM_000543.5(SMPD1):c.273C>T (p.Cys91=)
|
rs1847877445
|
|
|
NM_000543.5(SMPD1):c.276A>G (p.Pro92=)
|
rs2134006684
|
|
|
NM_000543.5(SMPD1):c.285A>G (p.Lys95=)
|
|
|
|
NM_000543.5(SMPD1):c.297C>T (p.Thr99=)
|
rs146630228
|
|
|
NM_000543.5(SMPD1):c.309C>G (p.Leu103=)
|
rs1847879646
|
|
|
NM_000543.5(SMPD1):c.309C>T (p.Leu103=)
|
|
|
|
NM_000543.5(SMPD1):c.30G>A (p.Gln10=)
|
rs1847855057
|
|
|
NM_000543.5(SMPD1):c.312G>A (p.Gly104=)
|
rs757958025
|
|
|
NM_000543.5(SMPD1):c.315G>A (p.Leu105=)
|
rs2134006862
|
|
|
NM_000543.5(SMPD1):c.315G>C (p.Leu105=)
|
rs2134006862
|
|
|
NM_000543.5(SMPD1):c.318+13G>C
|
|
|
|
NM_000543.5(SMPD1):c.318+20C>T
|
|
|
|
NM_000543.5(SMPD1):c.318+7A>C
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.318+7A>G
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.318+7A>T
|
rs747913628
|
|
|
NM_000543.5(SMPD1):c.319-12C>T
|
|
|
|
NM_000543.5(SMPD1):c.319-13C>G
|
|
|
|
NM_000543.5(SMPD1):c.319-16G>A
|
|
|
|
NM_000543.5(SMPD1):c.319-16dup
|
|
|
|
NM_000543.5(SMPD1):c.319-17C>G
|
|
|
|
NM_000543.5(SMPD1):c.319-17C>T
|
|
|
|
NM_000543.5(SMPD1):c.319-20A>G
|
|
|
|
NM_000543.5(SMPD1):c.319-7A>G
|
rs757091200
|
|
|
NM_000543.5(SMPD1):c.319-9C>T
|
|
|
|
NM_000543.5(SMPD1):c.333G>A (p.Val111=)
|
rs2134008523
|
|
|
NM_000543.5(SMPD1):c.339C>A (p.Arg113=)
|
|
|
|
NM_000543.5(SMPD1):c.339C>G (p.Arg113=)
|
|
|
|
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
|
|
|
|
NM_000543.5(SMPD1):c.348C>A (p.Ser116=)
|
|
|
|
NM_000543.5(SMPD1):c.348C>G (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.354C>T (p.Ala118=)
|
rs2134008712
|
|
|
NM_000543.5(SMPD1):c.363G>C (p.Leu121=)
|
rs2134008743
|
|
|
NM_000543.5(SMPD1):c.363G>T (p.Leu121=)
|
|
|
|
NM_000543.5(SMPD1):c.36C>T (p.Cys12=)
|
rs767287886
|
|
|
NM_000543.5(SMPD1):c.375G>A (p.Leu125=)
|
|
|
|
NM_000543.5(SMPD1):c.378G>A (p.Lys126=)
|
|
|
|
NM_000543.5(SMPD1):c.402A>G (p.Gln134=)
|
|
|
|
NM_000543.5(SMPD1):c.405C>T (p.Ser135=)
|
rs2134009009
|
|
|
NM_000543.5(SMPD1):c.420T>C (p.Phe140=)
|
|
|
|
NM_000543.5(SMPD1):c.429C>T (p.Asp143=)
|
rs2134009167
|
|
|
NM_000543.5(SMPD1):c.435G>A (p.Val145=)
|
rs1847906589
|
|
|
NM_000543.5(SMPD1):c.435G>T (p.Val145=)
|
|
|
|
NM_000543.5(SMPD1):c.441G>T (p.Val147=)
|
|
|
|
NM_000543.5(SMPD1):c.456G>A (p.Val152=)
|
rs2134009327
|
|
|
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
|
|
|
|
NM_000543.5(SMPD1):c.481C>T (p.Leu161=)
|
rs1283765997
|
|
|
NM_000543.5(SMPD1):c.486C>A (p.Leu162=)
|
|
|
|
NM_000543.5(SMPD1):c.486C>G (p.Leu162=)
|
rs758313663
|
|
|
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
|
|
|
|
NM_000543.5(SMPD1):c.516T>C (p.Ile172=)
|
|
|
|
NM_000543.5(SMPD1):c.519C>T (p.Phe173=)
|
|
|
|
NM_000543.5(SMPD1):c.522A>C (p.Ser174=)
|
rs2134009687
|
|
|
NM_000543.5(SMPD1):c.531C>T (p.Asn177=)
|
|
|
|
NM_000543.5(SMPD1):c.534C>A (p.Ile178=)
|
rs142147633
|
|
|
NM_000543.5(SMPD1):c.564C>G (p.Pro188=)
|
|
|
|
NM_000543.5(SMPD1):c.564C>T (p.Pro188=)
|
rs764993348
|
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
|
NM_000543.5(SMPD1):c.573T>C (p.Pro191=)
|
rs751653824
|
|
|
NM_000543.5(SMPD1):c.576C>T (p.Ser192=)
|
rs1448298550
|
|
|
NM_000543.5(SMPD1):c.579C>T (p.Pro193=)
|
|
|
|
NM_000543.5(SMPD1):c.585C>T (p.Ala195=)
|
rs2134010416
|
|
|
NM_000543.5(SMPD1):c.594C>G (p.Ala198=)
|
|
|
|
NM_000543.5(SMPD1):c.603C>T (p.Ser201=)
|
rs2134010544
|
|
|
NM_000543.5(SMPD1):c.609C>T (p.Ile203=)
|
rs746370637
|
|
|
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
|
|
|
|
NM_000543.5(SMPD1):c.612C>G (p.Leu204=)
|
|
|
|
NM_000543.5(SMPD1):c.612C>T (p.Leu204=)
|
|
|
|
NM_000543.5(SMPD1):c.615C>T (p.Phe205=)
|
rs2134010647
|
|
|
NM_000543.5(SMPD1):c.625C>T (p.Leu209=)
|
|
|
|
NM_000543.5(SMPD1):c.627G>A (p.Leu209=)
|
rs200443318
|
|
|
NM_000543.5(SMPD1):c.642C>T (p.Asp214=)
|
|
|
|
NM_000543.5(SMPD1):c.654C>T (p.Gly218=)
|
|
|
|
NM_000543.5(SMPD1):c.660C>T (p.Asp220=)
|
|
|
|
NM_000543.5(SMPD1):c.669T>C (p.Cys223=)
|
|
|
|
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)
|
rs886048444
|
|
|
NM_000543.5(SMPD1):c.681G>C (p.Leu227=)
|
rs1208751863
|
|
|
NM_000543.5(SMPD1):c.690C>T (p.Arg230=)
|
rs1590739083
|
|
|
NM_000543.5(SMPD1):c.699T>G (p.Ser233=)
|
|
|
|
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
|
|
|
|
NM_000543.5(SMPD1):c.702C>A (p.Gly234=)
|
|
|
|
NM_000543.5(SMPD1):c.708G>T (p.Pro236=)
|
|
|
|
NM_000543.5(SMPD1):c.723A>G (p.Pro241=)
|
rs1378142751
|
|
|
NM_000543.5(SMPD1):c.726T>C (p.Gly242=)
|
|
|
|
NM_000543.5(SMPD1):c.72C>A (p.Thr24=)
|
rs886043870
|
|
|
NM_000543.5(SMPD1):c.72C>T (p.Thr24=)
|
rs886043870
|
|
|
NM_000543.5(SMPD1):c.747C>T (p.Tyr249=)
|
rs765716943
|
|
|
NM_000543.5(SMPD1):c.765C>G (p.Pro255=)
|
|
|
|
NM_000543.5(SMPD1):c.765C>T (p.Pro255=)
|
|
|
|
NM_000543.5(SMPD1):c.774C>T (p.Thr258=)
|
rs2134011569
|
|
|
NM_000543.5(SMPD1):c.777G>A (p.Leu259=)
|
rs2134011575
|
|
|
NM_000543.5(SMPD1):c.786G>T (p.Leu262=)
|
|
|
|
NM_000543.5(SMPD1):c.787T>C (p.Leu263=)
|
|
|
|
NM_000543.5(SMPD1):c.798G>A (p.Leu266=)
|
rs2134011674
|
|
|
NM_000543.5(SMPD1):c.825G>A (p.Val275=)
|
rs1847934481
|
|
|
NM_000543.5(SMPD1):c.828C>T (p.Tyr276=)
|
rs2134011863
|
|
|
NM_000543.5(SMPD1):c.834A>G (p.Thr278=)
|
|
|
|
NM_000543.5(SMPD1):c.840C>T (p.Asp280=)
|
|
|
|
NM_000543.5(SMPD1):c.846C>T (p.Pro282=)
|
rs990064419
|
|
|
NM_000543.5(SMPD1):c.849A>G (p.Ala283=)
|
|
|
|
NM_000543.5(SMPD1):c.84C>G (p.Pro28=)
|
rs577769499
|
|
|
NM_000543.5(SMPD1):c.858C>T (p.Val286=)
|
|
|
|
NM_000543.5(SMPD1):c.891C>G (p.Ala297=)
|
rs2134012225
|
|
|
NM_000543.5(SMPD1):c.891C>T (p.Ala297=)
|
rs2134012225
|
|
|
NM_000543.5(SMPD1):c.90C>T (p.Leu30=)
|
rs748793138
|
|
|
NM_000543.5(SMPD1):c.918G>A (p.Arg306=)
|
|
|
|
NM_000543.5(SMPD1):c.925C>T (p.Leu309=)
|
|
|
|
NM_000543.5(SMPD1):c.939A>G (p.Pro313=)
|
rs1847944418
|
|
|
NM_000543.5(SMPD1):c.93T>C (p.Leu31=)
|
rs2134005000
|
|
|
NM_000543.5(SMPD1):c.948T>C (p.Pro316=)
|
rs764694813
|
|
|
NM_000543.5(SMPD1):c.948T>G (p.Pro316=)
|
rs764694813
|
|
|
NM_000543.5(SMPD1):c.957T>A (p.Gly319=)
|
rs2134012714
|
|
|
NM_000543.5(SMPD1):c.960C>T (p.Asn320=)
|
rs2134012736
|
|
|
NM_000543.5(SMPD1):c.963T>C (p.His321=)
|
rs2134012764
|
|
|
NM_000543.5(SMPD1):c.969C>T (p.Ser323=)
|
rs2134012783
|
|
|
NM_000543.5(SMPD1):c.993C>G (p.Pro331=)
|
rs2134012879
|
|
|
NM_000543.5(SMPD1):c.996C>A (p.Pro332=)
|
|
|
|
NM_000543.5(SMPD1):c.996C>G (p.Pro332=)
|
rs1425916722
|
|
|
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
|
|
|
|
NM_000543.5(SMPD1):c.9C>T (p.Arg3=)
|
rs2134004441
|
|
|
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
|
|
|
|
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
|
|
|
|
NM_006432.5(NPC2):c.117G>T (p.Val39=)
|
|
|
|
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
|
|
|
|
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
|
|
|
|
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
|
|
|
|
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
|
|
|
|
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
|
|
|
|
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
|
|
|
|
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
|
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
|
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
|
|
|
|
NM_006432.5(NPC2):c.190+14G>T
|
|
|
|
NM_006432.5(NPC2):c.190+16T>C
|
|
|
|
NM_006432.5(NPC2):c.190+17C>T
|
|
|
|
NM_006432.5(NPC2):c.191-14T>C
|
|
|
|
NM_006432.5(NPC2):c.191-18T>C
|
|
|
|
NM_006432.5(NPC2):c.191-18del
|
|
|
|
NM_006432.5(NPC2):c.191-4T>A
|
|
|
|
NM_006432.5(NPC2):c.191-7C>G
|
rs2086689980
|
|
|
NM_006432.5(NPC2):c.216C>A (p.Ala72=)
|
rs773861377
|
|
|
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
|
|
|
|
NM_006432.5(NPC2):c.21A>G (p.Thr7=)
|
rs150211005
|
|
|
NM_006432.5(NPC2):c.222G>C (p.Val74=)
|
rs763523833
|
|
|
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
|
|
|
|
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
|
|
|
|
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
|
|
|
|
NM_006432.5(NPC2):c.25C>T (p.Leu9=)
|
rs1033995785
|
|
|
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
|
|
|
|
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
|
|
|
|
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
|
|
|
|
NM_006432.5(NPC2):c.27G>A (p.Leu9=)
|
rs1362951124
|
|
|
NM_006432.5(NPC2):c.27G>C (p.Leu9=)
|
rs1362951124
|
|
|
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
|
|
|
|
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
|
|
|
|
NM_006432.5(NPC2):c.318C>T (p.Thr106=)
|
rs763613633
|
|
|
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
|
|
|
|
NM_006432.5(NPC2):c.327C>T (p.Tyr109=)
|
rs2139667951
|
|
|
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
|
|
|
|
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
|
|
|
|
NM_006432.5(NPC2):c.363+13A>G
|
|
|
|
NM_006432.5(NPC2):c.363+16_363+18del
|
rs747880187
|
|
|
NM_006432.5(NPC2):c.363+17T>C
|
|
|
|
NM_006432.5(NPC2):c.363+18T>A
|
|
|
|
NM_006432.5(NPC2):c.363+20A>G
|
|
|
|
NM_006432.5(NPC2):c.364-10C>T
|
rs2086648557
|
|
|
NM_006432.5(NPC2):c.364-20T>C
|
|
|
|
NM_006432.5(NPC2):c.364-20T>G
|
|
|
|
NM_006432.5(NPC2):c.364-8T>G
|
rs1352203929
|
|
|
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
|
|
|
|
NM_006432.5(NPC2):c.372G>C (p.Leu124=)
|
rs2139664545
|
|
|
NM_006432.5(NPC2):c.375G>A (p.Val125=)
|
rs2139664539
|
|
|
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
|
|
|
|
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
|
|
|
|
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
|
|
|
|
NM_006432.5(NPC2):c.441+10T>C
|
|
|
|
NM_006432.5(NPC2):c.441+13G>A
|
|
|
|
NM_006432.5(NPC2):c.441+13G>T
|
|
|
|
NM_006432.5(NPC2):c.441+16G>T
|
|
|
|
NM_006432.5(NPC2):c.441+17G>C
|
|
|
|
NM_006432.5(NPC2):c.441+8T>C
|
|
|
|
NM_006432.5(NPC2):c.441+9A>T
|
rs372464598
|
|
|
NM_006432.5(NPC2):c.442-10A>G
|
|
|
|
NM_006432.5(NPC2):c.442-13A>G
|
|
|
|
NM_006432.5(NPC2):c.442-17G>A
|
|
|
|
NM_006432.5(NPC2):c.442-17G>C
|
|
|
|
NM_006432.5(NPC2):c.442-4A>G
|
rs114950106
|
|
|
NM_006432.5(NPC2):c.442-8A>G
|
|
|
|
NM_006432.5(NPC2):c.442-9C>T
|
|
|
|
NM_006432.5(NPC2):c.453C>T (p.Leu151=)
|
rs766378122
|
|
|
NM_006432.5(NPC2):c.51C>A (p.Ala17=)
|
rs1260452199
|
|
|
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
|
|
|
|
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
|
|
|
|
NM_006432.5(NPC2):c.82+10A>C
|
|
|
|
NM_006432.5(NPC2):c.82+12G>A
|
|
|
|
NM_006432.5(NPC2):c.82+13C>A
|
|
|
|
NM_006432.5(NPC2):c.82+15C>A
|
|
|
|
NM_006432.5(NPC2):c.82+15C>T
|
|
|
|
NM_006432.5(NPC2):c.82+16G>A
|
|
|
|
NM_006432.5(NPC2):c.82+6dup
|
rs2139676497
|
|
|
NM_006432.5(NPC2):c.82+8C>G
|
|
|
|
NM_006432.5(NPC2):c.83-11T>C
|
|
|
|
NM_006432.5(NPC2):c.83-15A>G
|
rs1405062063
|
|
|
NM_006432.5(NPC2):c.83-19A>G
|
rs2139670208
|
|
|
NM_006432.5(NPC2):c.83-20A>G
|
|
|
|
NM_006432.5(NPC2):c.83-5T>C
|
|
|
|
NM_006432.5(NPC2):c.83-8T>G
|
|
|
|
NM_006432.5(NPC2):c.9C>T (p.Phe3=)
|
rs1300524708
|
|