ClinVar Miner

List of variants studied for adult neuronal ceroid lipofuscinosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 654
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_002087.4(GRN):c.-8+46G>T rs564341543 0.19681
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) rs79274952 0.01384
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_002087.4(GRN):c.42G>A (p.Leu14=) rs111435385 0.00533
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758 0.00447
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) rs11550508 0.00311
NM_003793.4(CTSF):c.1231-13T>C rs199830949 0.00298
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617 0.00221
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys) rs150922871 0.00177
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) rs143030899 0.00082
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002087.4(GRN):c.708+8A>T rs370878457 0.00066
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_002087.4(GRN):c.1515C>T (p.Ala505=) rs147495221 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00050
NM_002087.4(GRN):c.513C>T (p.Cys171=) rs147974849 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_002087.4(GRN):c.981G>A (p.Thr327=) rs145655086 0.00041
NM_003793.4(CTSF):c.1407C>T (p.Ser469=) rs144556402 0.00039
NM_002087.4(GRN):c.1180-3C>T rs368307425 0.00036
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser) rs140795906 0.00028
NM_003793.4(CTSF):c.214-6C>T rs376579629 0.00026
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_002087.4(GRN):c.276C>T (p.Cys92=) rs146792371 0.00024
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.360C>T (p.Ser120=) rs375183423 0.00021
NM_003793.4(CTSF):c.45G>T (p.Pro15=) rs117792851 0.00020
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe) rs544669445 0.00019
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_002087.4(GRN):c.349+12G>T rs367640963 0.00018
NM_003793.4(CTSF):c.1203C>T (p.Ser401=) rs139027846 0.00016
NM_002087.4(GRN):c.1539C>T (p.His513=) rs772977073 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_003793.4(CTSF):c.780G>A (p.Lys260=) rs140002533 0.00012
NM_002087.4(GRN):c.507C>G (p.Ala169=) rs113426443 0.00011
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066 0.00011
NM_002087.4(GRN):c.1555G>A (p.Val519Met) rs141111290 0.00010
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) rs763841075 0.00010
NM_002087.4(GRN):c.836-8C>T rs376226985 0.00010
NM_002087.4(GRN):c.1449G>A (p.Pro483=) rs150294858 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) rs375439809 0.00009
NM_002087.4(GRN):c.429C>T (p.Val143=) rs369649646 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002087.4(GRN):c.53C>T (p.Thr18Met) rs199572314 0.00009
NM_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.868-17C>G rs554536950 0.00009
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_002087.4(GRN):c.615G>A (p.Ser205=) rs372963871 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) rs553119528 0.00006
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_002087.4(GRN):c.268G>A (p.Val90Met) rs200019356 0.00006
NM_002087.4(GRN):c.361G>A (p.Val121Met) rs780731069 0.00006
NM_002087.4(GRN):c.442G>A (p.Gly148Arg) rs375343686 0.00006
NM_002087.4(GRN):c.56G>A (p.Arg19Gln) rs764665710 0.00006
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys) rs752345618 0.00006
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser) rs201500574 0.00006
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg) rs200426008 0.00006
NM_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_002087.4(GRN):c.128G>A (p.Arg43His) rs766068311 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002087.4(GRN):c.501C>T (p.His167=) rs372194047 0.00005
NM_002087.4(GRN):c.555C>T (p.His185=) rs146250263 0.00005
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) rs139375860 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys) rs779164010 0.00005
NM_003793.4(CTSF):c.351C>T (p.His117=) rs112809338 0.00005
NM_002087.4(GRN):c.1145C>T (p.Thr382Met) rs768333369 0.00004
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) rs148213321 0.00004
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) rs373885474 0.00004
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) rs780159686 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002087.4(GRN):c.1695C>T (p.Cys565=) rs63751248 0.00004
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) rs145344570 0.00004
NM_002087.4(GRN):c.1721G>A (p.Arg574His) rs756117423 0.00004
NM_002087.4(GRN):c.402G>A (p.Pro134=) rs201932427 0.00004
NM_002087.4(GRN):c.552C>T (p.Thr184=) rs141697391 0.00004
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 0.00004
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) rs149023078 0.00003
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) rs63750130 0.00003
NM_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) rs758322775 0.00003
NM_002087.4(GRN):c.827C>T (p.Ala276Val) rs202178902 0.00003
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) rs63750565 0.00003
NM_002087.4(GRN):c.933+11G>A rs373518235 0.00003
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 0.00003
NM_003793.4(CTSF):c.1253G>A (p.Arg418His) rs141345438 0.00003
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp) rs568250930 0.00003
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) rs533451404 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002087.4(GRN):c.1433G>A (p.Arg478His) rs140747584 0.00002
NM_002087.4(GRN):c.157C>G (p.Leu53Val) rs906652114 0.00002
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) rs768297331 0.00002
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) rs772381732 0.00002
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) rs1022228740 0.00002
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) rs766292113 0.00002
NM_002087.4(GRN):c.327G>A (p.Gly109=) rs753361816 0.00002
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00002
NM_002087.4(GRN):c.502G>A (p.Gly168Ser) rs753070659 0.00002
NM_002087.4(GRN):c.530G>A (p.Arg177His) rs753441122 0.00002
NM_002087.4(GRN):c.630C>T (p.Asp210=) rs768056183 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002087.4(GRN):c.969C>T (p.Pro323=) rs749575144 0.00002
NM_002087.4(GRN):c.989C>T (p.Thr330Met) rs376059429 0.00002
NM_003793.4(CTSF):c.1230+14C>T rs759960583 0.00002
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) rs748147151 0.00001
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) rs1598364961 0.00001
NM_002087.4(GRN):c.1019A>T (p.His340Leu) rs775196555 0.00001
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe) rs1480952239 0.00001
NM_002087.4(GRN):c.1125C>T (p.Ser375=) rs569994549 0.00001
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) rs748829798 0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs) rs63750805 0.00001
NM_002087.4(GRN):c.1146G>A (p.Thr382=) rs200308105 0.00001
NM_002087.4(GRN):c.1180-16C>A rs1167667946 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) rs956013468 0.00001
NM_002087.4(GRN):c.1221C>A (p.Gly407=) rs201630084 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) rs775888774 0.00001
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) rs749595402 0.00001
NM_002087.4(GRN):c.1269G>A (p.Val423=) rs1472989013 0.00001
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) rs200645022 0.00001
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) rs752428000 0.00001
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) rs751072702 0.00001
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) rs63750007 0.00001
NM_002087.4(GRN):c.1425C>T (p.Cys475=) rs63751104 0.00001
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) rs781387612 0.00001
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) rs774128685 0.00001
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile) rs772784579 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) rs764615963 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln) rs753857985 0.00001
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys) rs748764855 0.00001
NM_002087.4(GRN):c.1736G>A (p.Arg579His) rs373138049 0.00001
NM_002087.4(GRN):c.250T>C (p.Cys84Arg) rs1598362876 0.00001
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) rs1275075189 0.00001
NM_002087.4(GRN):c.267C>T (p.Ala89=) rs201699327 0.00001
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) rs375678079 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) rs770662203 0.00001
NM_002087.4(GRN):c.498G>A (p.Pro166=) rs141873754 0.00001
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) rs751651838 0.00001
NM_002087.4(GRN):c.54G>A (p.Thr18=) rs753160641 0.00001
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) rs768727709 0.00001
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) rs542613543 0.00001
NM_002087.4(GRN):c.620T>C (p.Met207Thr) rs776198499 0.00001
NM_002087.4(GRN):c.627G>A (p.Pro209=) rs374385285 0.00001
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) rs745947095 0.00001
NM_002087.4(GRN):c.69T>C (p.Gly23=) rs756420341 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002087.4(GRN):c.891C>T (p.Cys297=) rs1341898712 0.00001
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) rs768033215 0.00001
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) rs1026683055 0.00001
NM_002087.4(GRN):c.933+7del rs762910178 0.00001
NM_002087.4(GRN):c.990G>A (p.Thr330=) rs375066213 0.00001
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu) rs200646712 0.00001
NM_003793.4(CTSF):c.213+20G>A rs1046921955 0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=) rs756262196 0.00001
NM_003793.4(CTSF):c.722-3C>A rs1857927546 0.00001
NC_000017.10:g.(?_42426434)_(42430018_?)del
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.-8+5G>A
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter) rs63751406
NM_002087.4(GRN):c.1010A>G (p.Gln337Arg)
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
NM_002087.4(GRN):c.1019A>G (p.His340Arg) rs775196555
NM_002087.4(GRN):c.101C>A (p.Pro34His)
NM_002087.4(GRN):c.101C>T (p.Pro34Leu)
NM_002087.4(GRN):c.1020C>T (p.His340=)
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1035G>A (p.Met345Ile)
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
NM_002087.4(GRN):c.1071A>T (p.Pro357=) rs765677842
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
NM_002087.4(GRN):c.1081A>G (p.Lys361Glu)
NM_002087.4(GRN):c.108A>T (p.Gly36=)
NM_002087.4(GRN):c.1092C>T (p.Val364=)
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
NM_002087.4(GRN):c.110C>T (p.Ala37Val) rs1248005591
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.1149T>A (p.Ser383=)
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
NM_002087.4(GRN):c.1152G>T (p.Gly384=) rs2143342232
NM_002087.4(GRN):c.1153del (p.Glu385fs) rs2143342203
NM_002087.4(GRN):c.1156_1179del (p.Trp386_Glu393del)
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
NM_002087.4(GRN):c.1166_1167del (p.Cys389fs)
NM_002087.4(GRN):c.116A>T (p.Tyr39Phe)
NM_002087.4(GRN):c.1171A>G (p.Ile391Val)
NM_002087.4(GRN):c.1179+15del
NM_002087.4(GRN):c.1179+1G>C
NM_002087.4(GRN):c.1179+3A>G
NM_002087.4(GRN):c.1179+4_1179+8del rs752440929
NM_002087.4(GRN):c.1179+6T>C rs765761482
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
NM_002087.4(GRN):c.1180-12C>T
NM_002087.4(GRN):c.1180-3del
NM_002087.4(GRN):c.1180-4C>A
NM_002087.4(GRN):c.1180-7C>G rs1288562767
NM_002087.4(GRN):c.1180-9A>C
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
NM_002087.4(GRN):c.1192T>C (p.Ser398Pro)
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter) rs2143344360
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
NM_002087.4(GRN):c.1227del (p.Cys410fs)
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) rs199934385
NM_002087.4(GRN):c.1266C>T (p.Ile422=)
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
NM_002087.4(GRN):c.1281G>T (p.Glu427Asp)
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
NM_002087.4(GRN):c.129T>C (p.Arg43=) rs2143325907
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
NM_002087.4(GRN):c.1326C>T (p.Ile442=) rs748758630
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
NM_002087.4(GRN):c.1337A>G (p.Gln446Arg)
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
NM_002087.4(GRN):c.1355T>A (p.Val452Glu) rs759134554
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) rs63750537
NM_002087.4(GRN):c.1374G>A (p.Pro458=)
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
NM_002087.4(GRN):c.138+13C>G
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.139-10_139-7del
NM_002087.4(GRN):c.139-12C>G
NM_002087.4(GRN):c.139-13C>T
NM_002087.4(GRN):c.139-18T>C
NM_002087.4(GRN):c.139-20C>A
NM_002087.4(GRN):c.139-7T>G
NM_002087.4(GRN):c.1395C>T (p.Ala465=) rs2143346048
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.4(GRN):c.1413+20C>T
NM_002087.4(GRN):c.1413+8C>T
NM_002087.4(GRN):c.1413T>C (p.His471=)
NM_002087.4(GRN):c.1414-15_1591del
NM_002087.4(GRN):c.1414-1G>T
NM_002087.4(GRN):c.1414-2A>G rs1555611412
NM_002087.4(GRN):c.1414-5G>T
NM_002087.4(GRN):c.1414-6C>T
NM_002087.4(GRN):c.1414-9C>T
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
NM_002087.4(GRN):c.1458C>A (p.Tyr486Ter)
NM_002087.4(GRN):c.1464C>T (p.Cys488=) rs1253276640
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
NM_002087.4(GRN):c.1497G>A (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>C (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>T (p.Val499=)
NM_002087.4(GRN):c.1499T>C (p.Val500Ala) rs1256051695
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) rs1313083314
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
NM_002087.4(GRN):c.1518C>T (p.Thr506=) rs768852944
NM_002087.4(GRN):c.1527C>T (p.Ala509=)
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
NM_002087.4(GRN):c.1575C>T (p.His525=)
NM_002087.4(GRN):c.1578C>T (p.Phe526=) rs2143348471
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
NM_002087.4(GRN):c.160A>G (p.Ser54Gly) rs2143326730
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
NM_002087.4(GRN):c.1644+10A>T
NM_002087.4(GRN):c.1644+13C>A rs1219352976
NM_002087.4(GRN):c.1644+20C>T
NM_002087.4(GRN):c.1645-15C>G rs1292365225
NM_002087.4(GRN):c.1645-17C>T
NM_002087.4(GRN):c.1645-19C>T
NM_002087.4(GRN):c.1645-20G>A rs368901283
NM_002087.4(GRN):c.1645-20G>T
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.4(GRN):c.1671C>G (p.His557Gln)
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
NM_002087.4(GRN):c.168T>C (p.His56=)
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
NM_002087.4(GRN):c.1691G>A (p.Arg564His) rs971443926
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
NM_002087.4(GRN):c.1698A>C (p.Ala566=)
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) rs545762769
NM_002087.4(GRN):c.1719G>A (p.Leu573=) rs781110932
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
NM_002087.4(GRN):c.1731C>T (p.Ala577=)
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
NM_002087.4(GRN):c.1743C>T (p.Asp581=) rs1442769378
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
NM_002087.4(GRN):c.1760del (p.Pro587fs)
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
NM_002087.4(GRN):c.1774C>G (p.Leu592Val)
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
NM_002087.4(GRN):c.180dup (p.Cys61fs)
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
NM_002087.4(GRN):c.186G>A (p.Gln62=)
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
NM_002087.4(GRN):c.18C>T (p.Ser6=)
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
NM_002087.4(GRN):c.198C>T (p.His66=)
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
NM_002087.4(GRN):c.1A>G (p.Met1Val) rs746037872
NM_002087.4(GRN):c.202T>C (p.Ser68Pro)
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
NM_002087.4(GRN):c.207C>T (p.Ala69=)
NM_002087.4(GRN):c.212A>G (p.His71Arg)
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
NM_002087.4(GRN):c.234_235del (p.Gly79fs) rs63750373
NM_002087.4(GRN):c.237G>A (p.Gly79=)
NM_002087.4(GRN):c.240T>C (p.Thr80=) rs748557876
NM_002087.4(GRN):c.243C>T (p.Ser81=)
NM_002087.4(GRN):c.24G>A (p.Val8=)
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
NM_002087.4(GRN):c.258C>T (p.Phe86=)
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
NM_002087.4(GRN):c.264+13T>C
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_002087.4(GRN):c.264+1del
NM_002087.4(GRN):c.264+3G>T
NM_002087.4(GRN):c.264+6C>T
NM_002087.4(GRN):c.264+7G>C
NM_002087.4(GRN):c.265-13C>G
NM_002087.4(GRN):c.265-2A>T
NM_002087.4(GRN):c.265-2del
NM_002087.4(GRN):c.265-7T>C
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
NM_002087.4(GRN):c.285C>T (p.Gly95=)
NM_002087.4(GRN):c.291C>T (p.His97=)
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
NM_002087.4(GRN):c.299del (p.Pro100fs) rs2048353899
NM_002087.4(GRN):c.301C>A (p.Arg101=)
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) rs543578531
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
NM_002087.4(GRN):c.321A>C (p.Ala107=) rs1459426505
NM_002087.4(GRN):c.324C>T (p.Asp108=)
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) rs1354832051
NM_002087.4(GRN):c.339C>T (p.Phe113=)
NM_002087.4(GRN):c.348A>C (p.Ser116=)
NM_002087.4(GRN):c.349+11G>A
NM_002087.4(GRN):c.349+12G>C
NM_002087.4(GRN):c.349+15T>A
NM_002087.4(GRN):c.349+16G>C rs901525268
NM_002087.4(GRN):c.349+18del
NM_002087.4(GRN):c.349+19T>C
NM_002087.4(GRN):c.349+1G>C rs1598363083
NM_002087.4(GRN):c.350-13A>G
NM_002087.4(GRN):c.350-9T>C
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) rs758131649
NM_002087.4(GRN):c.351T>G (p.Gly117=) rs2143331256
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002087.4(GRN):c.378C>T (p.Cys126=)
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
NM_002087.4(GRN):c.383_386del (p.Asp128fs) rs2048359069
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.39dup (p.Leu14fs) rs2143325096
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
NM_002087.4(GRN):c.414G>A (p.Thr138=) rs543344476
NM_002087.4(GRN):c.414G>C (p.Thr138=) rs543344476
NM_002087.4(GRN):c.423T>G (p.Val141=)
NM_002087.4(GRN):c.427G>T (p.Val143Phe) rs1194653265
NM_002087.4(GRN):c.430G>A (p.Asp144Asn)
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) rs2143332050
NM_002087.4(GRN):c.462+13G>A
NM_002087.4(GRN):c.462+16A>G
NM_002087.4(GRN):c.462+20G>A
NM_002087.4(GRN):c.463-11T>C
NM_002087.4(GRN):c.463-17G>C
NM_002087.4(GRN):c.463-5C>G rs1475553309
NM_002087.4(GRN):c.463-6dup rs780699082
NM_002087.4(GRN):c.468_474del (p.Cys157fs) rs63750247
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
NM_002087.4(GRN):c.474T>C (p.Cys158=)
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
NM_002087.4(GRN):c.480C>T (p.Asp160=)
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
NM_002087.4(GRN):c.493T>C (p.Cys165Arg) rs2143333047
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
NM_002087.4(GRN):c.519G>C (p.Leu173=)
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
NM_002087.4(GRN):c.540A>T (p.Thr180=)
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
NM_002087.4(GRN):c.549C>T (p.Gly183=) rs2143333571
NM_002087.4(GRN):c.554A>G (p.His185Arg)
NM_002087.4(GRN):c.558C>T (p.Pro186=)
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
NM_002087.4(GRN):c.573C>T (p.Leu191=)
NM_002087.4(GRN):c.581A>G (p.Gln194Arg)
NM_002087.4(GRN):c.582G>A (p.Gln194=)
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
NM_002087.4(GRN):c.592_593del (p.Arg198fs) rs1555611136
NM_002087.4(GRN):c.599-10C>T
NM_002087.4(GRN):c.599-11T>A
NM_002087.4(GRN):c.599-18C>T
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.599-8T>C
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
NM_002087.4(GRN):c.614C>A (p.Ser205Ter) rs777211749
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
NM_002087.4(GRN):c.636G>A (p.Arg212=)
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) rs1211576020
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
NM_002087.4(GRN):c.657T>A (p.Ser219=)
NM_002087.4(GRN):c.657T>C (p.Ser219=)
NM_002087.4(GRN):c.657del (p.Thr220fs)
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) rs63750683
NM_002087.4(GRN):c.660C>G (p.Thr220=) rs1416699369
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) rs1555610855
NM_002087.4(GRN):c.701T>G (p.Met234Arg) rs2143335468
NM_002087.4(GRN):c.708+15G>A rs765540363
NM_002087.4(GRN):c.708+1G>C rs63749817
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.709-5C>T
NM_002087.4(GRN):c.711del (p.Thr238fs)
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
NM_002087.4(GRN):c.724G>C (p.Asp242His)
NM_002087.4(GRN):c.741C>T (p.Cys247=)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.744C>T (p.Pro248=)
NM_002087.4(GRN):c.751A>G (p.Thr251Ala)
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
NM_002087.4(GRN):c.753T>C (p.Thr251=)
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.774dup (p.Lys259Ter)
NM_002087.4(GRN):c.775_778del (p.Lys259fs) rs2143337849
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
NM_002087.4(GRN):c.78C>T (p.Cys26=)
NM_002087.4(GRN):c.795C>T (p.Asn265=)
NM_002087.4(GRN):c.796G>A (p.Ala266Thr) rs747362041
NM_002087.4(GRN):c.796G>C (p.Ala266Pro) rs747362041
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
NM_002087.4(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.4(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.816T>C (p.Thr272=)
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
NM_002087.4(GRN):c.828G>A (p.Ala276=)
NM_002087.4(GRN):c.834A>T (p.Thr278=)
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.835G>T (p.Val279Leu)
NM_002087.4(GRN):c.836-14T>G
NM_002087.4(GRN):c.836-19CT[2]
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_002087.4(GRN):c.836-5C>G
NM_002087.4(GRN):c.836-7C>T rs1598364646
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
NM_002087.4(GRN):c.873A>G (p.Pro291=)
NM_002087.4(GRN):c.873A>T (p.Pro291=) rs2143339424
NM_002087.4(GRN):c.878G>A (p.Gly293Asp)
NM_002087.4(GRN):c.879C>G (p.Gly293=) rs764968816
NM_002087.4(GRN):c.87C>A (p.Ala29=)
NM_002087.4(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.4(GRN):c.882T>C (p.Tyr294=) rs794729670
NM_002087.4(GRN):c.893G>A (p.Arg298His)
NM_002087.4(GRN):c.895C>T (p.Leu299=)
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
NM_002087.4(GRN):c.933+10G>A
NM_002087.4(GRN):c.933+11del
NM_002087.4(GRN):c.933+16G>A
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.933+5C>G
NM_002087.4(GRN):c.933+5C>T
NM_002087.4(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.934-11_936del
NM_002087.4(GRN):c.934-12dup
NM_002087.4(GRN):c.934-1G>A rs2143340416
NM_002087.4(GRN):c.934-8del rs1567887447
NM_002087.4(GRN):c.934-9C>T
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
NM_002087.4(GRN):c.954C>T (p.His318=)
NM_002087.4(GRN):c.96G>C (p.Leu32=)
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
NM_002087.4(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_003793.4(CTSF):c.1045+4T>G
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1166-7A>G
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
NM_003793.4(CTSF):c.1231-13_1231-11del
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
NM_003793.4(CTSF):c.1321+9C>T
NM_003793.4(CTSF):c.1322-14G>A
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.1380+13G>A
NM_003793.4(CTSF):c.1380+19del
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
NM_003793.4(CTSF):c.186G>A (p.Leu62=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup) rs772656687
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
NM_003793.4(CTSF):c.213+2T>A
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
NM_003793.4(CTSF):c.329_347del (p.Val110fs)
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
NM_003793.4(CTSF):c.531+15G>C
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter) rs758004789
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln) rs142782021
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu) rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
NM_003793.4(CTSF):c.722-4G>A
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
NM_003793.4(CTSF):c.867+8C>T
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) rs1857917135
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
NM_003793.4(CTSF):c.972G>A (p.Leu324=)
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn) rs750069810
NM_003793.4(CTSF):c.992del (p.Lys331fs)

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.