ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease, type C1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000271.4(NPC1):c.-238C>G rs8099071 0.11990
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_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_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 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_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_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000271.5(NPC1):c.*68G>A rs139720390 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358 0.00074
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
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_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000271.5(NPC1):c.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_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_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 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_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_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_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_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_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_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_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_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_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
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_000271.5(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+17insGGC rs55809701
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.