SERPINA10

SERPINA10 serpin family A member 10

Annotation transcript: NM_001100607.3

515 unique variant annotations were identified in 340 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
14-94749836-T-C c.*466A>G - 3-UTRSNV 5/5 - 2
14-94749836-T-G c.*466A>C - 3-UTRSNV 5/5 - 2
14-94749972-A-G c.*330T>C - 3-UTRSNV 5/5 - 3
14-94750292-G-A c.*10C>T - 3-UTRSNV 5/5 - 10
14-94750307-G-T c.1330C>A p.L444I Missense 5/5 - 1
14-94750312-G-T c.1325C>A p.T442N Missense 5/5 - 1
14-94750313-T-C c.1324A>G p.T442A Missense 5/5 - 1
14-94750314-C-A c.1323G>T p.P441= Synonymous 5/5 - 2
14-94750314-C-T c.1323G>A p.P441= Synonymous 5/5 - 2
14-94750316-G-A c.1321C>T p.P441S Missense 5/5 - 1
14-94750318-T-G c.1319A>C p.N440T Missense 5/5 - 1
14-94750320-C-A c.1317G>T p.V439= Synonymous 5/5 - 1
14-94750320-C-G c.1317G>C p.V439= Synonymous 5/5 - 1
14-94750320-C-T c.1317G>A p.V439= Synonymous 5/5 - 2
14-94750326-CCT-ACA c.1309_1311delinsTGT p.R437C Missense 5/5 - 1
14-94750327-C-A c.1310G>T p.R437M Missense 5/5 - 6
14-94750329-G-A c.1308C>T p.G436= Synonymous 5/5 - 2
14-94750336-A-T c.1301T>A p.F434Y Missense 5/5 - 6
14-94750338-C-G c.1299G>C p.L433= Synonymous 5/5 - 1
14-94750340-G-T c.1297C>A p.L433M Missense 5/5 - 1
14-94750351-G-C c.1286C>G p.S429C Missense 5/5 - 2
14-94750361-C-T c.1276G>A p.E426K Missense 5/5 - 9
14-94750365-G-T c.1272C>A p.I424= Synonymous 5/5 - 1
14-94750371-G-A c.1266C>T p.F422= Synonymous 5/5 - 3
14-94750376-G-A c.1261C>T p.H421Y Missense 5/5 - 5
14-94750377-A-C c.1260T>G p.F420L Missense 5/5 - 1
14-94750385-G-A c.1252C>T p.R418W Missense 5/5 - 2
14-94750386-G-T c.1251C>A p.D417E Missense 5/5 - 1
14-94750387-T-A c.1250A>T p.D417V Missense 5/5 - 4
14-94750388-C-A c.1249G>T p.D417Y Missense 5/5 - 1
14-94750403-G-C c.1234C>G p.P412A Missense 5/5 - 1
14-94750407-C-A c.1230G>T p.M410I Missense 5/5 - 2
14-94750407-C-G c.1230G>C p.M410I Missense 5/5 - 2
14-94750407-C-T c.1230G>A p.M410I Missense 5/5 - 4
14-94750408-A-C c.1229T>G p.M410R Missense 5/5 - 1
14-94750411-G-C c.1226C>G p.S409C Missense 5/5 - 1
14-94750416-A-G c.1221T>C p.A407= Synonymous 5/5 - 2
14-94750433-A-C c.1204T>G p.L402V Missense 5/5 - 1
14-94750433-A-T c.1204T>A p.L402M Missense 5/5 - 1
14-94750437-T-A c.1200A>T p.G400= Synonymous 5/5 - 1
14-94750437-T-C c.1200A>G p.G400= Synonymous 5/5 - 1
14-94750437-T-G c.1200A>C p.G400= Synonymous 5/5 - 1
14-94750438-C-T c.1199G>A p.G400E Missense 5/5 - 5
14-94750439-C-T c.1198G>A p.G400R Missense 5/5 - 2
14-94750451-C-G c.1186G>C p.E396Q Missense 5/5 - 1
14-94750452-A-C c.1185T>G p.T395= Synonymous 5/5 - 1
14-94750452-A-G c.1185T>C p.T395= Synonymous 5/5 - 1
14-94750452-A-T c.1185T>A p.T395= Synonymous 5/5 - 1
14-94750458-CCT-ATA c.1177_1179delinsTAT p.R393Y Missense 5/5 - 2
14-94750459-CT-GC c.1177_1178delinsGC p.R393A Missense 5/5 - 1
14-94750460-T-C c.1177A>G p.R393G Missense 5/5 - 1
14-94750463-C-T c.1174G>A p.E392K Missense 5/5 - 3
14-94750469-C-G c.1168G>C p.V390L Missense 5/5 - 1
14-94750479-T-A c.1158A>T p.T386= Synonymous 5/5 - 1
14-94750479-T-C c.1158A>G p.T386= Synonymous 5/5 - 1
14-94750479-T-G c.1158A>C p.T386= Synonymous 5/5 - 1
14-94750479-TG-GT c.1157_1158delinsAC p.T386N Missense 5/5 - 1
14-94750480-G-T c.1157C>A p.T386K Missense 5/5 - 1
14-94750481-T-C c.1156A>G p.T386A Missense 5/5 - 4
14-94750482-TCT-ACA c.1153_1155delinsTGT p.R385C Missense 5/5 - 1
14-94750485-T-C c.1152A>G p.Q384= Synonymous 5/5 - 1
14-94750486-T-C c.1151A>G p.Q384R Missense 5/5 - 18
14-94750486-T-G c.1151A>C p.Q384P Missense 5/5 - 1
14-94750492-A-G c.1145T>C p.V382A Missense 5/5 - 1
14-94750493-C-T c.1144G>A p.V382I Missense 5/5 - 3
14-94752138-A-C c.1143+307T>G - IntronicSNV - 4/4 1
14-94752444-C-T c.1143+1G>A - IntronicSNV - 4/4 1
14-94752449-G-A c.1139C>T p.S380F Missense 4/5 - 1
14-94752453-C-A c.1135G>T p.V379L Missense 4/5 - 2
14-94752453-C-G c.1135G>C p.V379L Missense 4/5 - 2
14-94752453-C-T c.1135G>A p.V379I Missense 4/5 - 2
14-94752461-T-C c.1127A>G p.N376S Missense 4/5 - 1
14-94752462-T-G c.1126A>C p.N376H Missense 4/5 - 2
14-94752464-C-T c.1124G>A p.R375K Missense 4/5 - 2
14-94752476-G-A c.1112C>T p.S371L Missense 4/5 - 1
14-94752476-G-C c.1112C>G p.S371* Nonsense 4/5 - 1
14-94752476-G-T c.1112C>A p.S371* Nonsense 4/5 - 1
14-94752483-C-T c.1105G>A p.E369K Missense 4/5 - 2
14-94752491-T-C c.1097A>G p.D366G Missense 4/5 - 1
14-94752494-G-T c.1094C>A p.A365D Missense 4/5 - 1
14-94752497-A-G c.1091T>C p.F364S Missense 4/5 - 3
14-94752499-G-A c.1089C>T p.P363= Synonymous 4/5 - 1
14-94752499-G-C c.1089C>G p.P363= Synonymous 4/5 - 1
14-94752499-G-T c.1089C>A p.P363= Synonymous 4/5 - 1
14-94752511-T-C c.1077A>G p.R359= Synonymous 4/5 - 1
14-94752513-T-G c.1075A>C p.R359= Synonymous 4/5 - 1
14-94752512-C-G c.1076G>C p.R359T Missense 4/5 - 1
14-94752513-T-A c.1075A>T p.R359* Nonsense 4/5 - 1
14-94752519-T-C c.1069A>G p.I357V Missense 4/5 - 2
14-94752521-C-T c.1067G>A p.G356E Missense 4/5 - 3
14-94752523-C-G c.1065G>C p.M355I Missense 4/5 - 1
14-94752523-C-T c.1065G>A p.M355I Missense 4/5 - 2
14-94752526-C-A c.1062G>T p.Q354H Missense 4/5 - 1
14-94752526-C-G c.1062G>C p.Q354H Missense 4/5 - 1
14-94752538-C-T c.1050G>A p.E350= Synonymous 4/5 - 1
14-94752540-C-T c.1048G>A p.E350K Missense 4/5 - 2
14-94752549-C-T c.1039G>A p.E347K Missense 4/5 - 4
14-94752553-C-T c.1035G>A p.K345= Synonymous 4/5 - 2
14-94752554-T-G c.1034A>C p.K345T Missense 4/5 - 1
14-94752558-G-T c.1030C>A p.Q344K Missense 4/5 - 1
14-94752565-C-A c.1023G>T p.K341N Missense 4/5 - 1
14-94752565-C-G c.1023G>C p.K341N Missense 4/5 - 1
14-94752567-T-C c.1021A>G p.K341E Missense 4/5 - 1
14-94752568-G-A c.1020C>T p.F340= Synonymous 4/5 - 2
14-94752572-T-C c.1016A>G p.K339R Missense 4/5 - 3
14-94752574-C-T c.1014G>A p.P338= Synonymous 4/5 - 2
14-94752575-G-A c.1013C>T p.P338L Missense 4/5 - 1
14-94752581-A-T c.1007T>A p.F336Y Missense 4/5 - 1
14-94752583-A-G c.1005T>C p.V335= Synonymous 4/5 - 2
14-94752585-C-T c.1003G>A p.V335I Missense 4/5 - 1
14-94752588-C-G c.1000G>C p.E334Q Missense 4/5 - 1
14-94752588-C-T c.1000G>A p.E334K Missense 4/5 - 4
14-94754458-G-A c.992+165C>T - IntronicSNV - 3/4 1
14-94754622-C-T c.992+1G>A - IntronicSNV - 3/4 3
14-94754631-C-T c.984G>A p.M328I Missense 3/5 - 3
14-94754635-T-A c.980A>T p.N327I Missense 3/5 - 1
14-94754640-G-A c.975C>T p.L325= Synonymous 3/5 - 1
14-94754643-C-T c.972G>A p.W324* Nonsense 3/5 - 12
14-94754644-C-T c.971G>A p.W324* Nonsense 3/5 - 5
14-94754647-G-A c.968C>T p.T323I Missense 3/5 - 1
14-94754651-C-T c.964G>A p.E322K Missense 3/5 - 2
14-94754653-AC-CT c.961_962delinsAG p.V321R Missense 3/5 - 2
14-94754653-A-G c.962T>C p.V321A Missense 3/5 - 3
14-94754657-A-C c.958T>G p.L320V Missense 3/5 - 1
14-94754658-G-A c.957C>T p.D319= Synonymous 3/5 - 1
14-94754660-C-T c.955G>A p.D319N Missense 3/5 - 1
14-94754661-T-G c.954A>C p.T318= Synonymous 3/5 - 1
14-94754664-G-A c.951C>T p.T317= Synonymous 3/5 - 1
14-94754675-C-T c.940G>A p.D314N Missense 3/5 - 4
14-94754677-T-G c.938A>C p.E313A Missense 3/5 - 3
14-94754678-C-T c.937G>A p.E313K Missense 3/5 - 2
14-94754682-G-A c.933C>T p.A311= Synonymous 3/5 - 1
14-94754684-C-T c.931G>A p.A311T Missense 3/5 - 1
14-94754685-G-A c.930C>T p.L310= Synonymous 3/5 - 2
14-94754686-A-G c.929T>C p.L310P Missense 3/5 - 1
14-94754689-T-G c.926A>C p.H309P Missense 3/5 - 1
14-94754696-C-T c.919G>A p.G307S Missense 3/5 - 1
14-94754701-T-G c.914A>C p.K305T Missense 3/5 - 1
14-94754703-C-T c.912G>A p.E304= Synonymous 3/5 - 1
14-94754704-T-A c.911A>T p.E304V Missense 3/5 - 1
14-94754705-C-T c.910G>A p.E304K Missense 3/5 - 2
14-94754708-T-C c.907A>G p.M303V Missense 3/5 - 1
14-94754711-G-A c.904C>T p.L302F Missense 3/5 - 1
14-94754712-G-A c.903C>T p.V301= Synonymous 3/5 - 1
14-94754714-C-T c.901G>A p.V301I Missense 3/5 - 2
14-94754718-C-T c.897G>A p.L299= Synonymous 3/5 - 1
14-94754719-A-C c.896T>G p.L299R Missense 3/5 - 1
14-94754724-G-A c.891C>T p.T297= Synonymous 3/5 - 1
14-94754725-G-A c.890C>T p.T297I Missense 3/5 - 2
14-94754731-T-C c.884A>G p.N295S Missense 3/5 - 1
14-94754733-T-A c.882A>T p.G294= Synonymous 3/5 - 1
14-94754734-C-T c.881G>A p.G294E Missense 3/5 - 11
14-94754735-C-G c.880G>C p.G294R Missense 3/5 - 2
14-94754735-C-T c.880G>A p.G294R Missense 3/5 - 4
14-94754745-C-A c.870G>T p.L290= Synonymous 3/5 - 1
14-94754745-C-G c.870G>C p.L290= Synonymous 3/5 - 1
14-94754745-C-T c.870G>A p.L290= Synonymous 3/5 - 1
14-94754747-G-A c.868C>T p.L290= Synonymous 3/5 - 2
14-94754747-G-T c.868C>A p.L290M Missense 3/5 - 3
14-94754750-T-G c.865A>C p.K289Q Missense 3/5 - 1
14-94754760-A-G c.855T>C p.C285= Synonymous 3/5 - 2
14-94754764-C-T c.851G>A p.R284H Missense 3/5 - 1
14-94754765-G-A c.850C>T p.R284C Missense 3/5 - 16
14-94754772-C-A c.843G>T p.K281N Missense 3/5 - 1
14-94754772-C-G c.843G>C p.K281N Missense 3/5 - 1
14-94754772-C-T c.843G>A p.K281= Synonymous 3/5 - 2
14-94754773-T-G c.842A>C p.K281T Missense 3/5 - 1
14-94754775-G-C c.840C>G p.D280E Missense 3/5 - 2
14-94754775-G-T c.840C>A p.D280E Missense 3/5 - 2
14-94754777-C-G c.838G>C p.D280H Missense 3/5 - 1
14-94754778-A-C c.837T>G p.F279L Missense 3/5 - 1
14-94754778-A-T c.837T>A p.F279L Missense 3/5 - 1
14-94754780-A-G c.835T>C p.F279L Missense 3/5 - 1
14-94754785-G-C c.830C>G p.S277C Missense 3/5 - 1
14-94754785-G-T c.830C>A p.S277Y Missense 3/5 - 1
14-94754786-A-T c.829T>A p.S277T Missense 3/5 - 1
14-94754788-G-A c.827C>T p.A276V Missense 3/5 - 1
14-94754792-A-G c.823T>C p.F275L Missense 3/5 - 1
14-94754794-T-G c.821A>C p.K274T Missense 3/5 - 1
14-94754796-G-A c.819C>T p.G273= Synonymous 3/5 - 1
14-94754798-C-A c.817G>T p.G273C Missense 3/5 - 1
14-94754800-G-C c.815C>G p.A272G Missense 3/5 - 1
14-94754800-G-T c.815C>A p.A272E Missense 3/5 - 3
14-94754803-C-T c.812G>A p.G271D Missense 3/5 - 4
14-94754804-C-A c.811G>T p.G271C Missense 3/5 - 2
14-94754804-C-T c.811G>A p.G271S Missense 3/5 - 8
14-94754805-G-A c.810C>T p.Y270= Synonymous 3/5 - 2
14-94754805-G-T c.810C>A p.Y270* Nonsense 3/5 - 1
14-94754808-C-T c.807G>A p.M269I Missense 3/5 - 1
14-94754811-C-A c.804G>T p.M268I Missense 3/5 - 8
14-94754811-C-G c.804G>C p.M268I Missense 3/5 - 7
14-94754811-C-T c.804G>A p.M268I Missense 3/5 - 5
14-94754815-G-A c.800C>T p.P267L Missense 3/5 - 1
14-94754816-G-T c.799C>A p.P267T Missense 3/5 - 1
14-94754820-C-G c.795G>C p.K265N Missense 3/5 - 1
14-94754822-T-C c.793A>G p.K265E Missense 3/5 - 1
14-94754830-T-C c.785A>G p.K262R Missense 3/5 - 1
14-94754835-C-T c.780G>A p.K260= Synonymous 3/5 - 1
14-94754836-TT-GC c.778_779delinsGC p.K260A Missense 3/5 - 2
14-94754843-G-A c.772C>T p.L258= Synonymous 3/5 - 1
14-94754846-G-A c.769C>T p.H257Y Missense 3/5 - 4
14-94754847-G-A c.768C>T p.F256= Synonymous 3/5 - 1
14-94754850-A-C c.765T>G p.T255= Synonymous 3/5 - 2
14-94754850-A-G c.765T>C p.T255= Synonymous 3/5 - 2
14-94754850-A-T c.765T>A p.T255= Synonymous 3/5 - 2
14-94754851-G-T c.764C>A p.T255N Missense 3/5 - 1
14-94754853-G-A c.762C>T p.D254= Synonymous 3/5 - 1
14-94754856-G-A c.759C>T p.V253= Synonymous 3/5 - 1
14-94754857-A-G c.758T>C p.V253A Missense 3/5 - 1
14-94754858-C-T c.757G>A p.V253I Missense 3/5 - 1
14-94754861-C-T c.754G>A p.E252K Missense 3/5 - 6
14-94754863-G-A c.752C>T p.T251I Missense 3/5 - 2
14-94754865-G-A c.750C>T p.F250= Synonymous 3/5 - 4
14-94754865-G-C c.750C>G p.F250L Missense 3/5 - 1
14-94754865-G-T c.750C>A p.F250L Missense 3/5 - 1
14-94754867-A-G c.748T>C p.F250L Missense 3/5 - 3
14-94754868-G-A c.747C>T p.V249= Synonymous 3/5 - 2
14-94754876-C-G c.739G>C p.D247H Missense 3/5 - 2
14-94754877-A-C c.738T>G p.F246L Missense 3/5 - 3
14-94754877-A-T c.738T>A p.F246L Missense 3/5 - 2
14-94754879-A-C c.736T>G p.F246V Missense 3/5 - 2
14-94754879-A-G c.736T>C p.F246L Missense 3/5 - 2
14-94754883-GG-CT c.731_732delinsAG p.T244K Missense 3/5 - 1
14-94754888-A-C c.727T>G p.L243V Missense 3/5 - 1
14-94754895-C-T c.720G>A p.G240= Synonymous 3/5 - 4
14-94754896-C-T c.719G>A p.G240E Missense 3/5 - 1
14-94755184-T-C c.719-288A>G - IntronicSNV - 2/4 1
14-94756119-C-T c.718+94G>A - IntronicSNV - 2/4 7
14-94756121-T-C c.718+92A>G - IntronicSNV - 2/4 2
14-94756212-C-T c.718+1G>A - IntronicSNV - 2/4 1
14-94756214-TTT-ACA c.715_717delinsTGT p.K239C Missense 2/5 - 4
14-94756215-TT-GC c.715_716delinsGC p.K239A Missense 2/5 - 4
14-94756216-T-C c.715A>G p.K239E Missense 2/5 - 1
14-94756217-G-C c.714C>G p.F238L Missense 2/5 - 1
14-94756218-A-C c.713T>G p.F238C Missense 2/5 - 1
14-94756219-A-G c.712T>C p.F238L Missense 2/5 - 1
14-94756223-G-C c.708C>G p.I236M Missense 2/5 - 2
14-94756226-G-A c.705C>T p.Y235= Synonymous 2/5 - 1
14-94756232-C-A c.699G>T p.V233= Synonymous 2/5 - 4
14-94756232-C-G c.699G>C p.V233= Synonymous 2/5 - 3
14-94756232-C-T c.699G>A p.V233= Synonymous 2/5 - 7
14-94756235-A-T c.696T>A p.L232= Synonymous 2/5 - 1
14-94756237-G-T c.694C>A p.L232I Missense 2/5 - 3
14-94756239-A-G c.692T>C p.I231T Missense 2/5 - 1
14-94756240-T-G c.691A>C p.I231L Missense 2/5 - 1
14-94756244-T-A c.687A>T p.K229N Missense 2/5 - 1
14-94756248-G-A c.683C>T p.T228I Missense 2/5 - 1
14-94756254-G-T c.677C>A p.P226H Missense 2/5 - 1
14-94756255-G-A c.676C>T p.P226S Missense 2/5 - 1
14-94756257-T-C c.674A>G p.N225S Missense 2/5 - 1
14-94756264-C-A c.667G>T p.E223* Nonsense 2/5 - 1
14-94756267-CA-C c.663del p.F221Lfs*10 Frameshift 2/5 - 1
14-94756275-T-C c.656A>G p.K219R Missense 2/5 - 1
14-94756277-G-A c.654C>T p.P218= Synonymous 2/5 - 2
14-94756277-G-C c.654C>G p.P218= Synonymous 2/5 - 2
14-94756277-G-T c.654C>A p.P218= Synonymous 2/5 - 2
14-94756278-G-A c.653C>T p.P218L Missense 2/5 - 2
14-94756279-G-A c.652C>T p.P218S Missense 2/5 - 9
14-94756279-GA-G c.651del p.K219Nfs*12 Frameshift 2/5 - 1
14-94756281-A-G c.650T>C p.I217T Missense 2/5 - 1
14-94756284-T-A c.647A>T p.K216I Missense 2/5 - 1
14-94756284-T-G c.647A>C p.K216T Missense 2/5 - 1
14-94756285-T-C c.646A>G p.K216E Missense 2/5 - 1
14-94756286-C-A c.645G>T p.G215= Synonymous 2/5 - 3
14-94756286-C-G c.645G>C p.G215= Synonymous 2/5 - 3
14-94756286-C-T c.645G>A p.G215= Synonymous 2/5 - 8
14-94756287-C-T c.644G>A p.G215E Missense 2/5 - 1
14-94756290-C-G c.641G>C p.R214P Missense 2/5 - 1
14-94756291-G-A c.640C>T p.R214W Missense 2/5 - 3
14-94756294-T-C c.637A>G p.T213A Missense 2/5 - 4
14-94756297-C-T c.634G>A p.E212K Missense 2/5 - 3
14-94756299-T-C c.632A>G p.K211R Missense 2/5 - 1
14-94756304-A-C c.627T>G p.I209M Missense 2/5 - 1
14-94756321-G-A c.610C>T p.L204F Missense 2/5 - 2
14-94756323-C-T c.608G>A p.R203K Missense 2/5 - 2
14-94756335-G-C c.596C>G p.S199* Nonsense 2/5 - 1
14-94756337-G-A c.594C>T p.A198= Synonymous 2/5 - 3
14-94756339-C-A c.592G>T p.A198S Missense 2/5 - 1
14-94756344-C-T c.587G>A p.R196H Missense 2/5 - 2
14-94756345-G-A c.586C>T p.R196C Missense 2/5 - 8
14-94756350-T-A c.581A>T p.N194I Missense 2/5 - 2
14-94756352-C-A c.579G>T p.M193I Missense 2/5 - 1
14-94756352-C-G c.579G>C p.M193I Missense 2/5 - 1
14-94756352-C-T c.579G>A p.M193I Missense 2/5 - 7
14-94756360-C-A c.571G>T p.V191L Missense 2/5 - 1
14-94756360-C-G c.571G>C p.V191L Missense 2/5 - 1
14-94756360-C-T c.571G>A p.V191M Missense 2/5 - 7
14-94756361-CG-C c.570del p.C190Wfs*4 Frameshift 2/5 - 1
14-94756361-G-A c.570C>T p.C190= Synonymous 2/5 - 3
14-94756366-C-G c.565G>C p.E189Q Missense 2/5 - 1
14-94756369-T-C c.562A>G p.T188A Missense 2/5 - 1
14-94756380-C-T c.551G>A p.R184K Missense 2/5 - 3
14-94756382-C-G c.549G>C p.K183N Missense 2/5 - 1
14-94756383-T-G c.548A>C p.K183T Missense 2/5 - 1
14-94756386-G-A c.545C>T p.S182F Missense 2/5 - 4
14-94756386-GA-CG c.544_545delinsCG p.S182R Missense 2/5 - 1
14-94756388-T-A c.543A>T p.L181F Missense 2/5 - 3
14-94756388-T-G c.543A>C p.L181F Missense 2/5 - 4
14-94756390-A-T c.541T>A p.L181I Missense 2/5 - 1
14-94756388-TA-T c.542del p.L181Yfs*13 Frameshift 2/5 - 1
14-94756392-T-A c.539A>T p.N180I Missense 2/5 - 1
14-94756405-C-T c.526G>A p.E176K Missense 2/5 - 6
14-94756411-ACATCAAAATCCTTGTGGATGAAGGCAAAACTCCCCTGTGTGAGGCCCAGTTCCAGGTTG-A c.462_520del p.N155Qfs*13 InFrameDeletion 2/5 - 1
14-94756411-C-T c.520G>A p.V174I Missense 2/5 - 1
14-94756415-A-G c.516T>C p.F172= Synonymous 2/5 - 1
14-94756416-A-G c.515T>C p.F172S Missense 2/5 - 1
14-94756420-C-T c.511G>A p.D171N Missense 2/5 - 7
14-94756424-G-A c.507C>T p.H169= Synonymous 2/5 - 1
14-94756426-G-C c.505C>G p.H169D Missense 2/5 - 1
14-94756427-G-A c.504C>T p.I168= Synonymous 2/5 - 1
14-94756430-G-A c.501C>T p.F167= Synonymous 2/5 - 2
14-94756433-G-A c.498C>T p.A166= Synonymous 2/5 - 2
14-94756443-C-T c.488G>A p.G163E Missense 2/5 - 1
14-94756444-C-T c.487G>A p.G163R Missense 2/5 - 1
14-94756441-TC-T c.489del p.S164Vfs*30 Frameshift 2/5 - 1
14-94756446-T-C c.485A>G p.Q162R Missense 2/5 - 2
14-94756450-T-A c.481A>T p.T161S Missense 2/5 - 34
14-94756450-T-C c.481A>G p.T161A Missense 2/5 - 10
14-94756458-A-T c.473T>A p.L158Q Missense 2/5 - 9
14-94756459-G-T c.472C>A p.L158M Missense 2/5 - 1
14-94756462-C-T c.469G>A p.E157K Missense 2/5 - 3
14-94756466-G-C c.465C>G p.N155K Missense 2/5 - 1
14-94756466-G-T c.465C>A p.N155K Missense 2/5 - 1
14-94756470-CG-GC c.460_461delinsGC p.R154A Missense 2/5 - 1
14-94756470-C-T c.461G>A p.R154H Missense 2/5 - 2
14-94756471-G-A c.460C>T p.R154C Missense 2/5 - 2
14-94756471-G-T c.460C>A p.R154S Missense 2/5 - 2
14-94756472-G-A c.459C>T p.S153= Synonymous 2/5 - 1
14-94756472-G-T c.459C>A p.S153= Synonymous 2/5 - 1
14-94756473-G-A c.458C>T p.S153F Missense 2/5 - 4
14-94756481-C-A c.450G>T p.E150D Missense 2/5 - 1
14-94756481-C-G c.450G>C p.E150D Missense 2/5 - 2
14-94756483-C-A c.448G>T p.E150* Nonsense 2/5 - 1
14-94756484-TCT-ATG c.445_447delinsCAT p.R149H Missense 2/5 - 2
14-94756491-C-G c.440G>C p.G147A Missense 2/5 - 1
14-94756492-C-T c.439G>A p.G147R Missense 2/5 - 1
14-94756493-C-A c.438G>T p.K146N Missense 2/5 - 1
14-94756493-C-G c.438G>C p.K146N Missense 2/5 - 1
14-94756493-C-T c.438G>A p.K146= Synonymous 2/5 - 3
14-94756494-TT-GC c.436_437delinsGC p.K146A Missense 2/5 - 1
14-94756496-A-G c.435T>C p.F145= Synonymous 2/5 - 1
14-94756496-A-C c.435T>G p.F145L Missense 2/5 - 5
14-94756496-A-T c.435T>A p.F145L Missense 2/5 - 3
14-94756498-A-G c.433T>C p.F145L Missense 2/5 - 3
14-94756499-G-A c.432C>T p.L144= Synonymous 2/5 - 3
14-94756501-G-A c.430C>T p.L144F Missense 2/5 - 4
14-94756502-G-A c.429C>T p.S143= Synonymous 2/5 - 1
14-94756503-G-A c.428C>T p.S143F Missense 2/5 - 1
14-94756503-G-T c.428C>A p.S143Y Missense 2/5 - 2
14-94756511-G-A c.420C>T p.L140= Synonymous 2/5 - 3
14-94756513-G-C c.418C>G p.L140V Missense 2/5 - 1
14-94756513-G-T c.418C>A p.L140I Missense 2/5 - 1
14-94756515-CC-AA c.415_416delinsTT p.G139L Missense 2/5 - 1
14-94756515-CC-TT c.415_416delinsAA p.G139K Missense 2/5 - 1
14-94756516-C-G c.415G>C p.G139R Missense 2/5 - 1
14-94756516-C-T c.415G>A p.G139R Missense 2/5 - 9
14-94756517-G-A c.414C>T p.P138= Synonymous 2/5 - 1
14-94756518-G-A c.413C>T p.P138L Missense 2/5 - 1
14-94756518-G-C c.413C>G p.P138R Missense 2/5 - 1
14-94756521-T-G c.410A>C p.K137T Missense 2/5 - 1
14-94756523-G-T c.408C>A p.T136= Synonymous 2/5 - 1
14-94756524-G-A c.407C>T p.T136I Missense 2/5 - 1
14-94756524-G-T c.407C>A p.T136N Missense 2/5 - 2
14-94756525-T-C c.406A>G p.T136A Missense 2/5 - 3
14-94756526-G-T c.405C>A p.P135= Synonymous 2/5 - 2
14-94756534-G-C c.397C>G p.L133V Missense 2/5 - 5
14-94756535-G-A c.396C>T p.A132= Synonymous 2/5 - 3
14-94756535-G-C c.396C>G p.A132= Synonymous 2/5 - 1
14-94756535-G-T c.396C>A p.A132= Synonymous 2/5 - 1
14-94756536-G-A c.395C>T p.A132V Missense 2/5 - 2
14-94756542-AA-TG c.388_389delinsCA p.L130Q Missense 2/5 - 1
14-94756542-A-C c.389T>G p.L130W Missense 2/5 - 7
14-94756549-G-A c.382C>T p.L128F Missense 2/5 - 1
14-94756554-C-G c.377G>C p.R126T Missense 2/5 - 1
14-94756557-T-A c.374A>T p.K125M Missense 2/5 - 1
14-94756557-T-G c.374A>C p.K125T Missense 2/5 - 1
14-94756557-TT-GC c.373_374delinsGC p.K125A Missense 2/5 - 1
14-94756558-T-G c.373A>C p.K125Q Missense 2/5 - 4
14-94756557-TTGA-T c.371_373del p.I124del InFrameDeletion 2/5 - 1
14-94756559-G-A c.372C>T p.I124= Synonymous 2/5 - 2
14-94756559-G-C c.372C>G p.I124M Missense 2/5 - 1
14-94756564-G-A c.367C>T p.Q123* Nonsense 2/5 - 5
14-94756567-T-C c.364A>G p.T122A Missense 2/5 - 2
14-94756570-C-G c.361G>C p.E121Q Missense 2/5 - 2
14-94756571-A-G c.360T>C p.T120= Synonymous 2/5 - 1
14-94756574-C-A c.357G>T p.P119= Synonymous 2/5 - 1
14-94756574-C-G c.357G>C p.P119= Synonymous 2/5 - 1
14-94756574-C-T c.357G>A p.P119= Synonymous 2/5 - 1
14-94756575-G-A c.356C>T p.P119L Missense 2/5 - 1
14-94756584-G-A c.347C>T p.A116V Missense 2/5 - 2
14-94756585-C-A c.346G>T p.A116S Missense 2/5 - 1
14-94756588-C-A c.343G>T p.G115W Missense 2/5 - 3
14-94756588-C-T c.343G>A p.G115R Missense 2/5 - 2
14-94756593-A-T c.338T>A p.M113K Missense 2/5 - 3
14-94756595-C-A c.336G>T p.L112F Missense 2/5 - 1
14-94756595-C-G c.336G>C p.L112F Missense 2/5 - 2
14-94756601-T-A c.330A>T p.T110= Synonymous 2/5 - 2
14-94756601-T-C c.330A>G p.T110= Synonymous 2/5 - 2
14-94756601-T-G c.330A>C p.T110= Synonymous 2/5 - 2
14-94756607-G-A c.324C>T p.A108= Synonymous 2/5 - 2
14-94756610-C-T c.321G>A p.L107= Synonymous 2/5 - 2
14-94756612-A-G c.319T>C p.L107= Synonymous 2/5 - 2
14-94756614-G-A c.317C>T p.S106F Missense 2/5 - 2
14-94756626-G-A c.305C>T p.P102L Missense 2/5 - 3
14-94756627-G-A c.304C>T p.P102S Missense 2/5 - 2
14-94756628-A-C c.303T>G p.S101= Synonymous 2/5 - 2
14-94756628-A-G c.303T>C p.S101= Synonymous 2/5 - 2
14-94756628-A-T c.303T>A p.S101= Synonymous 2/5 - 4
14-94756629-G-A c.302C>T p.S101F Missense 2/5 - 2
14-94756629-GA-CC c.301_302delinsGG p.S101G Missense 2/5 - 5
14-94756633-A-T c.298T>A p.F100I Missense 2/5 - 2
14-94756634-G-A c.297C>T p.V99= Synonymous 2/5 - 2
14-94756644-C-A c.287G>T p.G96V Missense 2/5 - 1
14-94756649-G-A c.282C>T p.H94= Synonymous 2/5 - 1
14-94756653-CT-GC c.277_278delinsGC p.R93A Missense 2/5 - 1
14-94756657-T-C c.274A>G p.M92V Missense 2/5 - 1
14-94756658-G-A c.273C>T p.S91= Synonymous 2/5 - 1
14-94756658-G-C c.273C>G p.S91= Synonymous 2/5 - 1
14-94756658-G-T c.273C>A p.S91= Synonymous 2/5 - 1
14-94756662-A-G c.269T>C p.I90T Missense 2/5 - 1
14-94756667-T-C c.264A>G p.R88= Synonymous 2/5 - 1
14-94756668-C-A c.263G>T p.R88L Missense 2/5 - 1
14-94756668-C-T c.263G>A p.R88Q Missense 2/5 - 8
14-94756669-G-A c.262C>T p.R88* Nonsense 2/5 - 31
14-94756674-A-C c.257T>G p.L86R Missense 2/5 - 3
14-94756683-C-T c.248G>A p.G83E Missense 2/5 - 2
14-94756684-C-G c.247G>C p.G83R Missense 2/5 - 1
14-94756684-C-T c.247G>A p.G83R Missense 2/5 - 1
14-94756685-G-A c.246C>T p.F82= Synonymous 2/5 - 5
14-94756694-AG-CA c.236_237delinsTG p.T79M Missense 2/5 - 1
14-94756700-C-T c.231G>A p.K77= Synonymous 2/5 - 3
14-94756705-C-G c.226G>C p.A76P Missense 2/5 - 1
14-94756715-CCT-ACA c.214_216delinsTGT p.R72C Missense 2/5 - 1
14-94756730-C-A c.201G>T p.W67C Missense 2/5 - 1
14-94756735-C-A c.196G>T p.A66S Missense 2/5 - 1
14-94756735-C-T c.196G>A p.A66T Missense 2/5 - 3
14-94756739-C-G c.192G>C p.E64D Missense 2/5 - 1
14-94756744-C-T c.187G>A p.E63K Missense 2/5 - 2
14-94756750-T-C c.181A>G p.S61G Missense 2/5 - 26
14-94756750-T-G c.181A>C p.S61R Missense 2/5 - 10
14-94756755-T-C c.176A>G p.K59R Missense 2/5 - 1
14-94756760-C-T c.171G>A p.E57= Synonymous 2/5 - 1
14-94756762-C-T c.169G>A p.E57K Missense 2/5 - 1
14-94756763-G-A c.168C>T p.S56= Synonymous 2/5 - 1
14-94756765-T-C c.166A>G p.S56G Missense 2/5 - 1
14-94756774-G-T c.157C>A p.Q53K Missense 2/5 - 1
14-94756778-A-T c.153T>A p.D51E Missense 2/5 - 1
14-94756779-T-C c.152A>G p.D51G Missense 2/5 - 1
14-94756780-C-T c.151G>A p.D51N Missense 2/5 - 2
14-94756782-T-A c.149A>T p.E50V Missense 2/5 - 1
14-94756783-C-T c.148G>A p.E50K Missense 2/5 - 2
14-94756786-C-A c.145G>T p.E49* Nonsense 2/5 - 2
14-94756790-C-T c.141G>A p.E47= Synonymous 2/5 - 2
14-94756791-T-G c.140A>C p.E47A Missense 2/5 - 1
14-94756792-C-T c.139G>A p.E47K Missense 2/5 - 4
14-94756793-C-A c.138G>T p.K46N Missense 2/5 - 1
14-94756793-C-T c.138G>A p.K46= Synonymous 2/5 - 1
14-94756794-T-A c.137A>T p.K46M Missense 2/5 - 13
14-94756794-T-C c.137A>G p.K46R Missense 2/5 - 37
14-94756795-T-G c.136A>C p.K46Q Missense 2/5 - 1
14-94756799-A-C c.132T>G p.A44= Synonymous 2/5 - 1
14-94756799-A-G c.132T>C p.A44= Synonymous 2/5 - 1
14-94756799-A-T c.132T>A p.A44= Synonymous 2/5 - 1
14-94756800-G-A c.131C>T p.A44V Missense 2/5 - 2
14-94756800-G-T c.131C>A p.A44D Missense 2/5 - 1
14-94756802-C-A c.129G>T p.Q43H Missense 2/5 - 1
14-94756802-C-G c.129G>C p.Q43H Missense 2/5 - 1
14-94756804-G-A c.127C>T p.Q43* Nonsense 2/5 - 4
14-94756818-G-T c.113C>A p.T38N Missense 2/5 - 5
14-94756820-C-T c.111G>A p.Q37= Synonymous 2/5 - 2
14-94756822-G-A c.109C>T p.Q37* Nonsense 2/5 - 2
14-94756823-G-C c.108C>G p.N36K Missense 2/5 - 1
14-94756824-T-G c.107A>C p.N36T Missense 2/5 - 1
14-94756828-G-A c.103C>T p.Q35* Nonsense 2/5 - 1
14-94756831-G-A c.100C>T p.P34S Missense 2/5 - 5
14-94756833-G-A c.98C>T p.A33V Missense 2/5 - 2
14-94756835-T-A c.96A>T p.P32= Synonymous 2/5 - 1
14-94756836-G-T c.95C>A p.P32Q Missense 2/5 - 2
14-94756843-C-G c.88G>C p.E30Q Missense 2/5 - 1
14-94756847-C-A c.84G>T p.S28= Synonymous 2/5 - 3
14-94756847-C-G c.84G>C p.S28= Synonymous 2/5 - 3
14-94756847-C-T c.84G>A p.S28= Synonymous 2/5 - 5
14-94756848-G-A c.83C>T p.S28L Missense 2/5 - 9
14-94756848-G-C c.83C>G p.S28W Missense 2/5 - 1
14-94756851-T-G c.80A>C p.Q27P Missense 2/5 - 1
14-94756852-G-A c.79C>T p.Q27* Nonsense 2/5 - 1
14-94756852-G-C c.79C>G p.Q27E Missense 2/5 - 1
14-94756857-C-A c.74G>T p.S25I Missense 2/5 - 1
14-94756860-G-A c.71C>T p.P24L Missense 2/5 - 1
14-94756863-G-C c.68C>G p.A23G Missense 2/5 - 1
14-94756864-C-G c.67G>C p.A23P Missense 2/5 - 1
14-94756870-C-T c.61G>A p.G21S Missense 2/5 - 1
14-94756871-G-A c.60C>T p.P20= Synonymous 2/5 - 1
14-94756871-G-C c.60C>G p.P20= Synonymous 2/5 - 1
14-94756871-G-T c.60C>A p.P20= Synonymous 2/5 - 1
14-94756872-G-A c.59C>T p.P20L Missense 2/5 - 1
14-94756875-A-C c.56T>G p.V19G Missense 2/5 - 2
14-94756876-C-A c.55G>T p.V19L Missense 2/5 - 1
14-94756886-C-T c.45G>A p.Q15= Synonymous 2/5 - 1
14-94756900-C-T c.31G>A p.V11I Missense 2/5 - 1
14-94756903-A-C c.28T>G p.S10A Missense 2/5 - 1
14-94756904-G-C c.27C>G p.L9= Synonymous 2/5 - 1
14-94756910-G-A c.21C>T p.L7= Synonymous 2/5 - 1
14-94756912-G-T c.19C>A p.L7I Missense 2/5 - 1
14-94756919-C-A c.12G>T p.V4= Synonymous 2/5 - 1
14-94756919-C-G c.12G>C p.V4= Synonymous 2/5 - 1
14-94756919-C-T c.12G>A p.V4= Synonymous 2/5 - 1
14-94756921-C-A c.10G>T p.V4L Missense 2/5 - 1
14-94756918-GCAC-G c.10_12del p.V4del InFrameDeletion 2/5 - 1
14-94756943-G-A c.-13C>T - 5-UTRSNV 2/5 - 7
14-94756943-G-C c.-13C>G - 5-UTRSNV 2/5 - 7
14-94756963-C-G c.-33G>C - 5-UTRSNV 2/5 - 1
14-94758486-G-A c.-51+1040C>T - intron_variant - 1/4 1
14-94758637-C-G c.-51+889G>C - intron_variant - 1/4 1
14-94758637-C-T c.-51+889G>A - intron_variant - 1/4 1