EPN3

EPN3 epsin 3

Annotation transcript: NM_017957.3

594 unique variant annotations were identified in 301 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
17-48610098-A-G c.-385A>G - 5_prime_UTR_variant 1/10 - 8
17-48610268-T-C c.-215T>C - 5_prime_UTR_variant 1/10 - 1
17-48610272-G-C c.-211G>C - 5_prime_UTR_variant 1/10 - 9
17-48610272-G-T c.-211G>T - 5_prime_UTR_variant 1/10 - 9
17-48611488-C-T c.-137+1142C>T - intron_variant - 1/9 1
17-48613569-A-G c.-136-213A>G - IntronicSNV - 1/9 1
17-48613837-A-C c.-81A>C - 5-UTRSNV 2/10 - 11
17-48613837-A-G c.-81A>G - 5-UTRSNV 2/10 - 11
17-48613837-A-T c.-81A>T - 5-UTRSNV 2/10 - 11
17-48613922-C-A c.5C>A p.T2K Missense 2/10 - 2
17-48613922-C-T c.5C>T p.T2M Missense 2/10 - 1
17-48613930-G-A c.13G>A p.A5T Missense 2/10 - 2
17-48613936-C-T c.19C>T p.R7W Missense 2/10 - 1
17-48613939-C-T c.22C>T p.R8C Missense 2/10 - 1
17-48613940-G-T c.23G>T p.R8L Missense 2/10 - 1
17-48613941-C-T c.24C>T p.R8= Synonymous 2/10 - 2
17-48613954-A-G c.37A>G p.I13V Missense 2/10 - 1
17-48613957-G-A c.40G>A p.V14M Missense 2/10 - 2
17-48613957-G-C c.40G>C p.V14L Missense 2/10 - 1
17-48613960-C-T c.43C>T p.H15Y Missense 2/10 - 4
17-48613964-A-C c.47A>C p.N16T Missense 2/10 - 1
17-48613967-A-G c.50A>G p.Y17C Missense 2/10 - 1
17-48613968-C-T c.51C>T p.Y17= Synonymous 2/10 - 1
17-48613971-C-T c.54C>T p.S18= Synonymous 2/10 - 2
17-48613972-G-A c.55G>A p.E19K Missense 2/10 - 1
17-48613978-G-A c.61G>A p.E21K Missense 2/10 - 1
17-48613987-G-A c.70G>A p.V24M Missense 2/10 - 1
17-48613990-C-T c.73C>T p.R25C Missense 2/10 - 4
17-48613991-G-A c.74G>A p.R25H Missense 2/10 - 2
17-48613992-C-T c.75C>T p.R25= Synonymous 2/10 - 1
17-48613993-G-A c.76G>A p.E26K Missense 2/10 - 1
17-48614011-C-A c.94C>A p.P32T Missense 2/10 - 1
17-48614018-G-C c.101G>C p.G34A Missense 2/10 - 2
17-48614021-C-T c.104C>T p.P35L Missense 2/10 - 1
17-48614023-C-A c.106C>A p.P36T Missense 2/10 - 1
17-48614018-GC-G c.107del p.P36Lfs*11 Frameshift 2/10 - 1
17-48614018-G-GC c.107dup p.S37* Nonsense 2/10 - 1
17-48614027-G-T c.110G>T p.S37I Missense 2/10 - 1
17-48614030-C-T c.113C>T p.S38L Missense 2/10 - 14
17-48614033-TC-AA c.116_117delinsAA p.L39Q Missense 2/10 - 1
17-48614041-G-A c.124G>A p.E42K Missense 2/10 - 2
17-48614046-C-A c.129C>A p.I43= Synonymous 2/10 - 1
17-48614046-C-T c.129C>T p.I43= Synonymous 2/10 - 1
17-48614056-AC-GA c.139_140delinsGA p.T47D Missense 2/10 - 5
17-48614061-C-CAAG c.146_147insGAA p.F48_N49insK InFrameInsertion 2/10 - 1
17-48614063-A-G c.146A>G p.N49S Missense 2/10 - 2
17-48614065-A-G c.148A>G p.T50A Missense 2/10 - 1
17-48614080-G-A c.163G>A p.E55K Missense 2/10 - 5
17-48614082-A-G c.165A>G p.E55= Synonymous 2/10 - 1
17-48614084-T-G c.167T>G p.V56G Missense 2/10 - 1
17-48614090-G-A c.173G>A p.G58D Missense 2/10 - 1
17-48614090-G-T c.173G>T p.G58V Missense 2/10 - 1
17-48614095-C-T c.178C>T p.L60= Synonymous 2/10 - 1
17-48614097-G-A c.180G>A p.L60= Synonymous 2/10 - 1
17-48614097-G-C c.180G>C p.L60= Synonymous 2/10 - 1
17-48614097-G-T c.180G>T p.L60= Synonymous 2/10 - 1
17-48614101-C-G c.184C>G p.R62G Missense 2/10 - 1
17-48614101-C-T c.184C>T p.R62W Missense 2/10 - 1
17-48614104-C-T c.187C>T p.R63W Missense 2/10 - 1
17-48614105-G-A c.188G>A p.R63Q Missense 2/10 - 1
17-48614110-A-C c.193A>C p.N65H Missense 2/10 - 1
17-48614118-C-T c.201C>T p.S67= Synonymous 2/10 - 1
17-48614119-G-A c.202G>A p.G68S Missense 2/10 - 4
17-48614119-G-C c.202G>C p.G68R Missense 2/10 - 1
17-48614120-G-A c.203G>A p.G68D Missense 2/10 - 1
17-48614126-A-T c.209A>T p.N70I Missense 2/10 - 3
17-48614129-G-T c.212G>T p.W71L Missense 2/10 - 1
17-48614131-C-A c.214C>A p.R72= Synonymous 2/10 - 1
17-48614133-G-A c.216G>A p.R72= Synonymous 2/10 - 1
17-48614133-G-C c.216G>C p.R72= Synonymous 2/10 - 1
17-48614133-G-T c.216G>T p.R72= Synonymous 2/10 - 1
17-48614132-G-A c.215G>A p.R72Q Missense 2/10 - 3
17-48614134-C-T c.217C>T p.H73Y Missense 2/10 - 1
17-48614136-C-T c.219C>T p.H73= Synonymous 2/10 - 1
17-48614137-G-A c.220G>A p.V74M Missense 2/10 - 3
17-48614144-A-G c.227A>G p.K76R Missense 2/10 - 1
17-48614148-T-A c.231T>A p.A77= Synonymous 2/10 - 1
17-48614155-T-C c.238T>C p.L80= Synonymous 2/10 - 1
17-48614157-G-A c.240G>A p.L80= Synonymous 2/10 - 1
17-48614172-C-A c.255C>A p.L85= Synonymous 2/10 - 1
17-48614172-C-G c.255C>G p.L85= Synonymous 2/10 - 1
17-48614172-C-T c.255C>T p.L85= Synonymous 2/10 - 1
17-48614176-A-T c.259A>T p.T87S Missense 2/10 - 1
17-48614177-C-A c.260C>A p.T87K Missense 2/10 - 1
17-48614177-C-T c.260C>T p.T87M Missense 2/10 - 3
17-48614179-G-A c.262G>A p.G88S Missense 2/10 - 2
17-48614184-C-A c.267C>A p.S89= Synonymous 2/10 - 2
17-48614184-C-G c.267C>G p.S89= Synonymous 2/10 - 1
17-48614184-C-T c.267C>T p.S89= Synonymous 2/10 - 2
17-48614185-G-A c.268G>A p.E90K Missense 2/10 - 2
17-48614187-G-A c.270G>A p.E90= Synonymous 2/10 - 1
17-48614188-C-T c.271C>T p.R91W Missense 2/10 - 5
17-48614189-G-A c.272G>A p.R91Q Missense 2/10 - 2
17-48614190-G-T c.273G>T p.R91= Synonymous 2/10 - 1
17-48614199-C-T c.282C>T p.H94= Synonymous 2/10 - 1
17-48614206-C-T c.289C>T p.R97C Missense 2/10 - 1
17-48614207-G-A c.290G>A p.R97H Missense 2/10 - 4
17-48614218-T-A c.301T>A p.Y101N Missense 2/10 - 1
17-48614222-C-T c.305C>T p.T102I Missense 2/10 - 1
17-48614223-C-A c.306C>A p.T102= Synonymous 2/10 - 1
17-48614223-C-G c.306C>G p.T102= Synonymous 2/10 - 1
17-48614223-C-T c.306C>T p.T102= Synonymous 2/10 - 4
17-48614232-A-T c.315A>T p.T105= Synonymous 2/10 - 1
17-48614238-G-A c.321G>A p.K107= Synonymous 2/10 - 1
17-48614243-T-C c.326T>C p.F109S Missense 2/10 - 1
17-48614246-A-C c.329A>C p.Q110P Missense 2/10 - 1
17-48614246-A-G c.329A>G p.Q110R Missense 2/10 - 1
17-48614246-A-T c.329A>T p.Q110L Missense 2/10 - 1
17-48614247-G-A c.330G>A p.Q110= Synonymous 2/10 - 1
17-48614248-T-C c.331T>C p.Y111H Missense 2/10 - 1
17-48614257-CGC-TGG c.340_342delinsTGG p.R114W Missense 2/10 - 1
17-48614258-G-A c.341G>A p.R114H Missense 2/10 - 1
17-48614263-G-A c.346G>A p.G116S Missense 2/10 - 1
17-48614264-G-A c.347G>A p.G116D Missense 2/10 - 1
17-48614269-G-A c.352G>A p.D118N Missense 2/10 - 3
17-48614271-C-A c.354C>A p.D118E Missense 2/10 - 2
17-48614276-G-C c.359G>C p.G120A Missense 2/10 - 1
17-48614282-A-G c.365A>G p.N122S Missense 2/10 - 1
17-48614288-G-C c.371G>C p.R124P Missense 2/10 - 1
17-48614289-C-T c.372C>T p.R124= Synonymous 2/10 - 1
17-48614290-G-A c.373G>A p.E125K Missense 2/10 - 5
17-48614292-G-C c.375G>C p.E125D Missense 2/10 - 1
17-48614292-G-T c.375G>T p.E125D Missense 2/10 - 1
17-48614302-C-T c.385C>T p.Q129* Nonsense 2/10 - 2
17-48614304-G-A c.387G>A p.Q129= Synonymous 2/10 - 1
17-48614310-G-A c.393G>A p.M131I Missense 2/10 - 1
17-48614311-GCC-TTTACA c.394_396delinsTTTACA p.A132delinsFT MultiAAMissense 2/10 - 1
17-48614311-GGCC-G c.394_396del p.A132del InFrameDeletion 2/10 - 1
17-48614314-C-A c.397C>A p.L133M Missense 2/10 - 1
17-48614319-C-A c.402C>A p.L134= Synonymous 2/10 - 1
17-48614327-A-G c.410A>G p.E137G Missense 2/10 - 2
17-48614328-G-A c.411G>A p.E137= Synonymous 2/10 - 1
17-48614332-C-T c.415C>T p.R139W Missense 2/10 - 2
17-48614326-GAGGAGCGGCTGCGGC-G c.417_431del p.L140_R144del InFrameDeletion 2/10 - 1
17-48614340-G-A c.423G>A p.R141= Synonymous 2/10 - 1
17-48614341-C-T c.424C>T p.Q142* Nonsense 2/10 - 1
17-48614343-G-A c.426G>A p.Q142= Synonymous 2/10 - 1
17-48614343-G-C c.426G>C p.Q142H Missense 2/10 - 1
17-48614343-G-T c.426G>T p.Q142H Missense 2/10 - 1
17-48614346-G-C c.429G>C p.E143D Missense 2/10 - 1
17-48614347-C-G c.430C>G p.R144G Missense 2/10 - 1
17-48614347-C-T c.430C>T p.R144* Nonsense 2/10 - 1
17-48614348-G-A c.431G>A p.R144Q Missense 2/10 - 1
17-48614348-G-T c.431G>T p.R144L Missense 2/10 - 1
17-48614354-A-G c.437A>G p.H146R Missense 2/10 - 2
17-48614355-C-A c.438C>A p.H146Q Missense 2/10 - 1
17-48614355-C-G c.438C>G p.H146Q Missense 2/10 - 1
17-48614356-G-A c.439G>A p.A147T Missense 2/10 - 2
17-48614358-C-T c.441C>T p.A147= Synonymous 2/10 - 2
17-48614367-C-T c.450C>T p.T150= Synonymous 2/10 - 1
17-48614370-G-A c.453G>A p.K151= Synonymous 2/10 - 2
17-48614371-G-A c.454G>A p.E152K Missense 2/10 - 2
17-48614374-C-T c.457C>T p.R153C Missense 2/10 - 1
17-48614375-G-A c.458G>A p.R153H Missense 2/10 - 1
17-48614378-T-C c.461T>C p.M154T Missense 2/10 - 1
17-48614381-C-A c.464C>A p.A155E Missense 2/10 - 1
17-48614383-C-T c.466C>T p.L156= Synonymous 2/10 - 2
17-48614385-G-A c.468G>A p.L156= Synonymous 2/10 - 3
17-48614385-G-C c.468G>C p.L156= Synonymous 2/10 - 1
17-48614385-G-T c.468G>T p.L156= Synonymous 2/10 - 1
17-48614388-G-A c.471G>A p.E157= Synonymous 2/10 - 1
17-48614396-G-T c.479G>T p.G160V Missense 2/10 - 1
17-48614407-G-A c.490G>A p.G164R Missense 2/10 - 1
17-48614410-C-G c.493C>G p.Q165E Missense 2/10 - 1
17-48614413-C-T c.496C>T p.L166= Synonymous 2/10 - 1
17-48614415-G-A c.498G>A p.L166= Synonymous 2/10 - 1
17-48614417-G-A c.500G>A p.G167D Missense 2/10 - 1
17-48614422-A-C c.505A>C p.S169R Missense 2/10 - 1
17-48614424-C-A c.507C>A p.S169R Missense 2/10 - 1
17-48614424-C-G c.507C>G p.S169R Missense 2/10 - 1
17-48614424-C-T c.507C>T p.S169= Synonymous 2/10 - 2
17-48614425-C-T c.508C>T p.R170C Missense 2/10 - 1
17-48614426-G-A c.509G>A p.R170H Missense 2/10 - 8
17-48614426-GC-AA c.509_510delinsAA p.R170Q Missense 2/10 - 1
17-48614427-C-A c.510C>A p.R170= Synonymous 2/10 - 1
17-48614427-C-G c.510C>G p.R170= Synonymous 2/10 - 1
17-48614427-C-T c.510C>T p.R170= Synonymous 2/10 - 1
17-48614428-CGC-TGG c.511_513delinsTGG p.R171W Missense 2/10 - 1
17-48614428-C-T c.511C>T p.R171C Missense 2/10 - 3
17-48614429-G-A c.512G>A p.R171H Missense 2/10 - 2
17-48614435-G-A c.518G>A p.G173D Missense 2/10 - 1
17-48614436-C-A c.519C>A p.G173= Synonymous 2/10 - 1
17-48614436-C-G c.519C>G p.G173= Synonymous 2/10 - 1
17-48614436-C-T c.519C>T p.G173= Synonymous 2/10 - 1
17-48614437-G-A c.520G>A p.E174K Missense 2/10 - 1
17-48614442-C-A c.525C>A p.D175E Missense 2/10 - 1
17-48614442-C-G c.525C>G p.D175E Missense 2/10 - 1
17-48614444-A-C c.527A>C p.Y176S Missense 2/10 - 1
17-48614448-C-T c.531C>T p.S177= Synonymous 2/10 - 1
17-48614449-CGC-TGG c.532_534delinsTGG p.R178W Missense 2/10 - 1
17-48614450-G-A c.533G>A p.R178H Missense 2/10 - 1
17-48614453-C-T c.536C>T p.S179F Missense 2/10 - 1
17-48614455-C-G c.538C>G p.R180G Missense 2/10 - 1
17-48614455-C-T c.538C>T p.R180W Missense 2/10 - 1
17-48614456-G-A c.539G>A p.R180Q Missense 2/10 - 4
17-48614458-G-A c.541G>A p.G181S Missense 2/10 - 1
17-48614463-C-A c.546C>A p.S182= Synonymous 2/10 - 1
17-48614463-C-G c.546C>G p.S182= Synonymous 2/10 - 1
17-48614463-C-T c.546C>T p.S182= Synonymous 2/10 - 1
17-48614466-G-A c.549G>A p.P183= Synonymous 2/10 - 1
17-48614466-G-C c.549G>C p.P183= Synonymous 2/10 - 1
17-48614466-G-T c.549G>T p.P183= Synonymous 2/10 - 1
17-48614467-T-A c.550T>A p.S184T Missense 2/10 - 1
17-48614469-C-T c.552C>T p.S184= Synonymous 2/10 - 1
17-48614476-A-G c.559A>G p.N187D Missense 2/10 - 1
17-48614621-C-T c.562+142C>T - IntronicSNV - 2/9 2
17-48614674-T-C c.562+195T>C - IntronicSNV - 2/9 4
17-48615329-G-A c.563-111G>A - IntronicSNV - 2/9 2
17-48615349-A-G c.563-91A>G - IntronicSNV - 2/9 1
17-48615443-C-A c.566C>A p.S189Y Missense 3/10 - 1
17-48615449-C-T c.572C>T p.S191L Missense 3/10 - 2
17-48615450-G-C c.573G>C p.S191= Synonymous 3/10 - 1
17-48615456-C-A c.579C>A p.P193= Synonymous 3/10 - 1
17-48615456-C-G c.579C>G p.P193= Synonymous 3/10 - 1
17-48615456-C-T c.579C>T p.P193= Synonymous 3/10 - 1
17-48615458-G-T c.581G>T p.R194L Missense 3/10 - 3
17-48615464-C-T c.587C>T p.T196I Missense 3/10 - 1
17-48615468-C-A c.591C>A p.S197= Synonymous 3/10 - 1
17-48615468-C-G c.591C>G p.S197= Synonymous 3/10 - 1
17-48615468-C-T c.591C>T p.S197= Synonymous 3/10 - 1
17-48615475-G-A c.598G>A p.E200K Missense 3/10 - 1
17-48615481-G-A c.604G>A p.A202T Missense 3/10 - 2
17-48615485-G-A c.608G>A p.R203Q Missense 3/10 - 3
17-48615485-G-T c.608G>T p.R203L Missense 3/10 - 1
17-48615488-C-T c.611C>T p.P204L Missense 3/10 - 2
17-48615494-C-T c.617C>T p.T206M Missense 3/10 - 1
17-48615495-G-A c.618G>A p.T206= Synonymous 3/10 - 1
17-48615501-G-A c.624G>A p.G208= Synonymous 3/10 - 1
17-48615505-G-C c.628G>C p.E210Q Missense 3/10 - 1
17-48615513-G-C c.636G>C p.L212= Synonymous 3/10 - 1
17-48615515-A-T c.638A>T p.Q213L Missense 3/10 - 1
17-48615517-C-A c.640C>A p.L214M Missense 3/10 - 1
17-48615517-C-T c.640C>T p.L214= Synonymous 3/10 - 1
17-48615510-ACTGCAG-A c.643_648del p.Q215_L216del InFrameDeletion 3/10 - 1
17-48615520-C-T c.643C>T p.Q215* Nonsense 3/10 - 1
17-48615523-C-G c.646C>G p.L216V Missense 3/10 - 1
17-48615524-T-G c.647T>G p.L216R Missense 3/10 - 1
17-48615532-G-A c.655G>A p.A219T Missense 3/10 - 3
17-48615540-C-T c.663C>T p.S221= Synonymous 3/10 - 1
17-48615542-G-A c.665G>A p.R222H Missense 3/10 - 3
17-48615544-G-A c.667G>A p.E223K Missense 3/10 - 2
17-48615550-G-A c.673G>A p.A225T Missense 3/10 - 1
17-48616114-C-G c.682-131C>G - IntronicSNV - 3/9 6
17-48616114-C-T c.682-131C>T - IntronicSNV - 3/9 6
17-48616246-C-T c.683C>T p.P228L Missense 4/10 - 2
17-48616252-C-A c.689C>A p.P230H Missense 4/10 - 1
17-48616253-C-T c.690C>T p.P230= Synonymous 4/10 - 1
17-48616249-TC-T c.692del p.P231Qfs*17 Frameshift 4/10 - 1
17-48616249-T-TC c.692dup p.A232Sfs*31 Frameshift 4/10 - 2
17-48616255-C-A c.692C>A p.P231Q Missense 4/10 - 3
17-48616258-C-T c.695C>T p.A232V Missense 4/10 - 2
17-48616263-C-A c.700C>A p.H234N Missense 4/10 - 1
17-48616266-A-C c.703A>C p.R235= Synonymous 4/10 - 1
17-48616268-G-A c.705G>A p.R235= Synonymous 4/10 - 3
17-48616269-G-A c.706G>A p.D236N Missense 4/10 - 3
17-48616271-C-T c.708C>T p.D236= Synonymous 4/10 - 3
17-48616279-T-C c.716T>C p.L239P Missense 4/10 - 1
17-48616285-T-C c.722T>C p.L241P Missense 4/10 - 1
17-48616291-T-C c.728T>C p.L243P Missense 4/10 - 1
17-48616293-G-A c.730G>A p.A244T Missense 4/10 - 1
17-48616294-C-A c.731C>A p.A244D Missense 4/10 - 1
17-48616305-A-G c.742A>G p.S248G Missense 4/10 - 1
17-48616306-G-T c.743G>T p.S248I Missense 4/10 - 2
17-48616307-C-T c.744C>T p.S248= Synonymous 4/10 - 1
17-48616308-CGG-TGT c.745_747delinsTGT p.R249C Missense 4/10 - 1
17-48616308-C-T c.745C>T p.R249W Missense 4/10 - 1
17-48616309-G-T c.746G>T p.R249L Missense 4/10 - 1
17-48616311-C-T c.748C>T p.Q250* Nonsense 4/10 - 1
17-48616314-G-A c.751G>A p.E251K Missense 4/10 - 1
17-48616320-G-A c.757G>A p.E253K Missense 4/10 - 1
17-48616322-G-C c.759G>C p.E253D Missense 4/10 - 1
17-48616322-G-T c.759G>T p.E253D Missense 4/10 - 1
17-48616551-G-A c.766G>A p.V256M Missense 5/10 - 1
17-48616568-T-A c.783T>A p.G261= Synonymous 5/10 - 1
17-48616568-T-C c.783T>C p.G261= Synonymous 5/10 - 2
17-48616568-T-G c.783T>G p.G261= Synonymous 5/10 - 1
17-48616577-C-A c.792C>A p.S264= Synonymous 5/10 - 1
17-48616577-C-G c.792C>G p.S264= Synonymous 5/10 - 1
17-48616577-C-T c.792C>T p.S264= Synonymous 5/10 - 1
17-48616579-C-A c.794C>A p.P265H Missense 5/10 - 1
17-48616579-C-G c.794C>G p.P265R Missense 5/10 - 1
17-48616582-T-C c.797T>C p.M266T Missense 5/10 - 2
17-48616583-G-A c.798G>A p.M266I Missense 5/10 - 2
17-48616583-G-C c.798G>C p.M266I Missense 5/10 - 2
17-48616583-G-T c.798G>T p.M266I Missense 5/10 - 4
17-48616584-G-A c.799G>A p.A267T Missense 5/10 - 1
17-48616592-T-A c.807T>A p.G269= Synonymous 5/10 - 1
17-48616592-T-C c.807T>C p.G269= Synonymous 5/10 - 1
17-48616592-T-G c.807T>G p.G269= Synonymous 5/10 - 1
17-48616599-G-C c.814G>C p.A272P Missense 5/10 - 1
17-48616601-C-A c.816C>A p.A272= Synonymous 5/10 - 2
17-48616601-C-G c.816C>G p.A272= Synonymous 5/10 - 2
17-48616601-C-T c.816C>T p.A272= Synonymous 5/10 - 3
17-48616602-G-A c.817G>A p.V273M Missense 5/10 - 2
17-48616602-GTG-ATC c.817_819delinsATC p.V273I Missense 5/10 - 1
17-48616603-T-G c.818T>G p.V273G Missense 5/10 - 1
17-48616605-GTC-ATG c.820_822delinsATG p.V274M Missense 5/10 - 1
17-48616606-T-A c.821T>A p.V274D Missense 5/10 - 3
17-48616611-C-T c.826C>T p.H276Y Missense 5/10 - 1
17-48616614-C-T c.829C>T p.Q277* Nonsense 5/10 - 4
17-48616617-C-A c.832C>A p.R278= Synonymous 5/10 - 1
17-48616617-C-T c.832C>T p.R278W Missense 5/10 - 1
17-48616618-G-A c.833G>A p.R278Q Missense 5/10 - 2
17-48616624-G-C c.839G>C p.R280T Missense 5/10 - 1
17-48616632-G-C c.847G>C p.E283Q Missense 5/10 - 2
17-48616636-G-A c.851G>A p.R284K Missense 5/10 - 4
17-48616636-G-C c.851G>C p.R284T Missense 5/10 - 1
17-48616636-G-T c.851G>T p.R284I Missense 5/10 - 1
17-48616643-G-C c.858G>C p.E286D Missense 5/10 - 1
17-48616643-G-T c.858G>T p.E286D Missense 5/10 - 1
17-48616644-A-G c.859A>G p.R287G Missense 5/10 - 1
17-48616645-G-C c.860G>C p.R287T Missense 5/10 - 2
17-48616647-AAGG-A c.871_873del p.E291del InFrameDeletion 5/10 - 2
17-48616658-G-A c.873G>A p.E291= Synonymous 5/10 - 5
17-48616662-C-T c.877C>T p.L293= Synonymous 5/10 - 1
17-48616664-A-C c.879A>C p.L293= Synonymous 5/10 - 1
17-48616664-A-G c.879A>G p.L293= Synonymous 5/10 - 1
17-48616664-A-T c.879A>T p.L293= Synonymous 5/10 - 1
17-48616663-TA-T c.883del p.T295Pfs*69 Frameshift 5/10 - 1
17-48616670-C-G c.885C>G p.T295= Synonymous 5/10 - 2
17-48616672-G-A c.887G>A p.S296N Missense 5/10 - 2
17-48616672-G-C c.887G>C p.S296T Missense 5/10 - 1
17-48616672-G-T c.887G>T p.S296I Missense 5/10 - 1
17-48616673-C-T c.888C>T p.S296= Synonymous 5/10 - 1
17-48617493-A-G c.892-115A>G - IntronicSNV - 5/9 5
17-48617569-C-T c.892-39C>T - IntronicSNV - 5/9 1
17-48617584-C-A c.892-24C>A - IntronicSNV - 5/9 1
17-48617584-C-T c.892-24C>T - IntronicSNV - 5/9 1
17-48617585-G-A c.892-23G>A - IntronicSNV - 5/9 1
17-48617585-G-T c.892-23G>T - IntronicSNV - 5/9 1
17-48617586-C-A c.892-22C>A - IntronicSNV - 5/9 1
17-48617586-C-G c.892-22C>G - IntronicSNV - 5/9 1
17-48617586-C-T c.892-22C>T - IntronicSNV - 5/9 1
17-48617611-T-C c.895T>C p.S299P Missense 6/10 - 1
17-48617613-C-G c.897C>G p.S299= Synonymous 6/10 - 1
17-48617616-C-T c.900C>T p.I300= Synonymous 6/10 - 1
17-48617620-G-A c.904G>A p.D302N Missense 6/10 - 1
17-48617623-T-C c.907T>C p.L303= Synonymous 6/10 - 1
17-48617625-G-A c.909G>A p.L303= Synonymous 6/10 - 2
17-48617625-G-T c.909G>T p.L303F Missense 6/10 - 1
17-48617634-C-A c.918C>A p.I306= Synonymous 6/10 - 1
17-48617634-C-T c.918C>T p.I306= Synonymous 6/10 - 1
17-48617636-T-C c.920T>C p.F307S Missense 6/10 - 1
17-48617638-G-A c.922G>A p.V308I Missense 6/10 - 1
17-48617642-C-A c.926C>A p.P309H Missense 6/10 - 1
17-48617647-C-A c.931C>A p.L311M Missense 6/10 - 1
17-48617650-G-A c.934G>A p.A312T Missense 6/10 - 1
17-48617654-C-T c.938C>T p.P313L Missense 6/10 - 2
17-48617660-C-T c.944C>T p.S315F Missense 6/10 - 1
17-48617661-C-T c.945C>T p.S315= Synonymous 6/10 - 2
17-48617674-G-A c.958G>A p.A320T Missense 6/10 - 1
17-48617685-G-A c.969G>A p.W323* Nonsense 6/10 - 2
17-48617694-A-C c.978A>C p.P326= Synonymous 6/10 - 2
17-48617694-A-G c.978A>G p.P326= Synonymous 6/10 - 2
17-48617694-A-T c.978A>T p.P326= Synonymous 6/10 - 2
17-48617829-G-A c.979+134G>A - IntronicSNV - 6/9 3
17-48617829-G-C c.979+134G>C - IntronicSNV - 6/9 1
17-48617906-A-G c.979+211A>G - IntronicSNV - 6/9 1
17-48618106-A-G c.980-48A>G - IntronicSNV - 6/9 7
17-48618160-G-T c.986G>T p.R329M Missense 7/10 - 1
17-48618163-C-T c.989C>T p.P330L Missense 7/10 - 2
17-48618164-G-A c.990G>A p.P330= Synonymous 7/10 - 4
17-48618164-G-C c.990G>C p.P330= Synonymous 7/10 - 2
17-48618164-G-T c.990G>T p.P330= Synonymous 7/10 - 2
17-48618180-G-A c.1006G>A p.G336R Missense 7/10 - 1
17-48618187-CC-GG c.1013_1014inv p.S338W Missense 7/10 - 1
17-48618194-G-A c.1020G>A p.G340= Synonymous 7/10 - 1
17-48618195-C-A c.1021C>A p.P341T Missense 7/10 - 2
17-48618195-C-G c.1021C>G p.P341A Missense 7/10 - 1
17-48618201-G-A c.1027G>A p.A343T Missense 7/10 - 1
17-48618206-C-A c.1032C>A p.D344E Missense 7/10 - 2
17-48618206-C-G c.1032C>G p.D344E Missense 7/10 - 2
17-48618208-C-T c.1034C>T p.P345L Missense 7/10 - 2
17-48618216-C-T c.1042C>T p.P348S Missense 7/10 - 1
17-48618226-C-T c.1052C>T p.S351L Missense 7/10 - 6
17-48618227-CA-C c.1053del p.G352Efs*12 Frameshift 7/10 - 2
17-48618234-G-A c.1060G>A p.V354I Missense 7/10 - 4
17-48618243-C-G c.1069C>G p.R357G Missense 7/10 - 2
17-48618243-CGA-ATG c.1069_1071delinsATG p.R357M Missense 7/10 - 1
17-48618244-G-A c.1070G>A p.R357Q Missense 7/10 - 1
17-48618246-AGC-TGG c.1072_1074delinsTGG p.S358W Missense 7/10 - 1
17-48618255-T-C c.1081T>C p.W361R Missense 7/10 - 1
17-48618267-C-T c.1093C>T p.P365S Missense 7/10 - 1
17-48618272-G-A c.1098G>A p.M366I Missense 7/10 - 1
17-48618272-G-C c.1098G>C p.M366I Missense 7/10 - 1
17-48618272-G-T c.1098G>T p.M366I Missense 7/10 - 1
17-48618285-G-C c.1111G>C p.E371Q Missense 7/10 - 1
17-48618289-C-A c.1115C>A p.P372H Missense 7/10 - 1
17-48618289-C-T c.1115C>T p.P372L Missense 7/10 - 5
17-48618292-G-A c.1118G>A p.W373* Nonsense 7/10 - 1
17-48618293-G-A c.1119G>A p.W373* Nonsense 7/10 - 1
17-48618291-TG-T c.1121del p.G374Afs*18 Frameshift 7/10 - 1
17-48618299-GGA-G c.1125_1126del p.R375Sfs*29 Frameshift 7/10 - 1
17-48618301-C-A c.1127C>A p.T376N Missense 7/10 - 2
17-48618302-C-G c.1128C>G p.T376= Synonymous 7/10 - 1
17-48618302-C-T c.1128C>T p.T376= Synonymous 7/10 - 1
17-48618303-C-G c.1129C>G p.P377A Missense 7/10 - 1
17-48618307-T-G c.1133T>G p.V378G Missense 7/10 - 2
17-48618315-G-A c.1141G>A p.A381T Missense 7/10 - 1
17-48618319-G-T c.1145G>T p.G382V Missense 7/10 - 1
17-48618320-G-A c.1146G>A p.G382= Synonymous 7/10 - 1
17-48618324-C-T c.1150C>T p.P384S Missense 7/10 - 1
17-48618325-CC-AA c.1151_1152delinsAA p.P384Q Missense 7/10 - 1
17-48618320-G-GC c.1152dup p.T385Hfs*20 Frameshift 7/10 - 2
17-48618326-C-A c.1152C>A p.P384= Synonymous 7/10 - 1
17-48618326-C-G c.1152C>G p.P384= Synonymous 7/10 - 1
17-48618326-C-T c.1152C>T p.P384= Synonymous 7/10 - 1
17-48618328-C-T c.1154C>T p.T385I Missense 7/10 - 2
17-48618336-C-T c.1162C>T p.P388S Missense 7/10 - 2
17-48618339-T-A c.1165T>A p.W389R Missense 7/10 - 1
17-48618339-T-C c.1165T>C p.W389R Missense 7/10 - 1
17-48618344-C-T c.1170C>T p.A390= Synonymous 7/10 - 1
17-48618353-T-A c.1179T>A p.S393= Synonymous 7/10 - 1
17-48618353-T-C c.1179T>C p.S393= Synonymous 7/10 - 1
17-48618353-T-G c.1179T>G p.S393= Synonymous 7/10 - 1
17-48618357-C-A c.1183C>A p.H395N Missense 7/10 - 1
17-48618360-C-T c.1186C>T p.H396Y Missense 7/10 - 10
17-48618361-A-C c.1187A>C p.H396P Missense 7/10 - 1
17-48618362-C-CT c.1188_1189insT p.K397* Nonsense 7/10 - 1
17-48618362-C-T c.1188C>T p.H396= Synonymous 7/10 - 1
17-48618359-CCACAAACTCCCCAG-C c.1189_1202del p.K397Wfs*3 Frameshift 7/10 - 1
17-48618368-C-A c.1194C>A p.L398= Synonymous 7/10 - 1
17-48618368-C-G c.1194C>G p.L398= Synonymous 7/10 - 1
17-48618368-C-T c.1194C>T p.L398= Synonymous 7/10 - 1
17-48618373-G-C c.1199G>C p.S400T Missense 7/10 - 1
17-48618377-T-A c.1203T>A p.T401= Synonymous 7/10 - 1
17-48618377-T-C c.1203T>C p.T401= Synonymous 7/10 - 1
17-48618377-T-G c.1203T>G p.T401= Synonymous 7/10 - 1
17-48618394-G-C c.1220G>C p.G407A Missense 7/10 - 1
17-48618397-C-T c.1223C>T p.A408V Missense 7/10 - 1
17-48618398-C-G c.1224C>G p.A408= Synonymous 7/10 - 1
17-48618400-C-T c.1226C>T p.S409F Missense 7/10 - 1
17-48618412-C-T c.1238C>T p.S413F Missense 7/10 - 2
17-48618414-G-A c.1240G>A p.D414N Missense 7/10 - 1
17-48618418-C-T c.1244C>T p.T415I Missense 7/10 - 1
17-48618421-C-G c.1247C>G p.P416R Missense 7/10 - 2
17-48618601-A-C c.1261A>C p.T421P Missense 8/10 - 1
17-48618602-C-T c.1262C>T p.T421I Missense 8/10 - 1
17-48618606-T-C c.1266T>C p.F422= Synonymous 8/10 - 1
17-48618607-G-T c.1267G>T p.D423Y Missense 8/10 - 1
17-48618610-C-T c.1270C>T p.P424S Missense 8/10 - 1
17-48618621-A-C c.1281A>C p.K427N Missense 8/10 - 3
17-48618621-A-T c.1281A>T p.K427N Missense 8/10 - 3
17-48618626-C-T c.1286C>T p.P429L Missense 8/10 - 1
17-48618627-A-G c.1287A>G p.P429= Synonymous 8/10 - 1
17-48618645-G-A c.1305G>A p.K435= Synonymous 8/10 - 1
17-48618652-C-T c.1312C>T p.L438= Synonymous 8/10 - 1
17-48618653-T-A c.1313T>A p.L438Q Missense 8/10 - 1
17-48618663-C-A c.1323C>A p.A441= Synonymous 8/10 - 1
17-48618663-C-G c.1323C>G p.A441= Synonymous 8/10 - 1
17-48618663-C-T c.1323C>T p.A441= Synonymous 8/10 - 1
17-48618664-C-A c.1324C>A p.L442M Missense 8/10 - 1
17-48618665-T-A c.1325T>A p.L442Q Missense 8/10 - 1
17-48618667-C-T c.1327C>T p.P443S Missense 8/10 - 2
17-48618671-C-A c.1331C>A p.S444Y Missense 8/10 - 1
17-48618671-C-T c.1331C>T p.S444F Missense 8/10 - 1
17-48618673-G-A c.1333G>A p.G445R Missense 8/10 - 1
17-48618684-C-T c.1344C>T p.S448= Synonymous 8/10 - 1
17-48618687-C-T c.1347C>T p.S449= Synonymous 8/10 - 1
17-48618689-C-A c.1349C>A p.P450H Missense 8/10 - 1
17-48618693-G-A c.1353G>A p.V451= Synonymous 8/10 - 1
17-48618693-G-C c.1353G>C p.V451= Synonymous 8/10 - 1
17-48618693-G-T c.1353G>T p.V451= Synonymous 8/10 - 1
17-48618824-G-A c.1355-1G>A - IntronicSNV - 8/9 1
17-48618824-G-C c.1355-1G>C - IntronicSNV - 8/9 1
17-48618842-G-T c.1372G>T p.D458Y Missense 9/10 - 1
17-48618846-C-A c.1376C>A p.P459H Missense 9/10 - 3
17-48618846-C-T c.1376C>T p.P459L Missense 9/10 - 1
17-48618851-C-T c.1381C>T p.P461S Missense 9/10 - 2
17-48618852-C-A c.1382C>A p.P461H Missense 9/10 - 1
17-48618855-G-A c.1385G>A p.S462N Missense 9/10 - 2
17-48618864-A-T c.1394A>T p.Q465L Missense 9/10 - 1
17-48618873-C-T c.1403C>T p.T468M Missense 9/10 - 1
17-48618874-G-A c.1404G>A p.T468= Synonymous 9/10 - 1
17-48618874-G-C c.1404G>C p.T468= Synonymous 9/10 - 1
17-48618874-G-T c.1404G>T p.T468= Synonymous 9/10 - 2
17-48618887-G-A c.1417G>A p.A473T Missense 9/10 - 1
17-48618898-G-A c.1428G>A p.L476= Synonymous 9/10 - 1
17-48618909-G-C c.1439G>C p.G480A Missense 9/10 - 2
17-48618909-G-T c.1439G>T p.G480V Missense 9/10 - 1
17-48618917-CTA-TTT c.1447_1449delinsTTT p.L483F Missense 9/10 - 1
17-48618924-A-T c.1454A>T p.Q485L Missense 9/10 - 1
17-48618926-C-T c.1456C>T p.P486S Missense 9/10 - 1
17-48618929-A-C c.1459A>C p.S487R Missense 9/10 - 1
17-48618931-C-A c.1461C>A p.S487R Missense 9/10 - 1
17-48618931-C-G c.1461C>G p.S487R Missense 9/10 - 1
17-48618932-A-T c.1462A>T p.K488* Nonsense 9/10 - 1
17-48618933-A-T c.1463A>T p.K488I Missense 9/10 - 1
17-48618935-G-A c.1465G>A p.E489K Missense 9/10 - 1
17-48618938-G-A c.1468G>A p.A490T Missense 9/10 - 1
17-48618939-C-T c.1469C>T p.A490V Missense 9/10 - 1
17-48618952-G-A c.1482G>A p.R494= Synonymous 9/10 - 1
17-48618955-T-A c.1485T>A p.T495= Synonymous 9/10 - 1
17-48618955-T-C c.1485T>C p.T495= Synonymous 9/10 - 1
17-48618955-T-G c.1485T>G p.T495= Synonymous 9/10 - 1
17-48618963-C-A c.1493C>A p.S498Y Missense 9/10 - 1
17-48618978-C-T c.1508C>T p.S503L Missense 9/10 - 1
17-48618982-T-C c.1512T>C p.A504= Synonymous 9/10 - 1
17-48618987-C-T c.1517C>T p.S506F Missense 9/10 - 2
17-48618988-C-A c.1518C>A p.S506= Synonymous 9/10 - 1
17-48618988-C-G c.1518C>G p.S506= Synonymous 9/10 - 1
17-48618988-C-T c.1518C>T p.S506= Synonymous 9/10 - 1
17-48618997-C-A c.1527C>A p.N509K Missense 9/10 - 1
17-48618999-T-C c.1529T>C p.L510P Missense 9/10 - 1
17-48619005-CG-TT c.1535_1536delinsTT p.S512F Missense 9/10 - 1
17-48619005-C-T c.1535C>T p.S512L Missense 9/10 - 1
17-48619006-G-A c.1536G>A p.S512= Synonymous 9/10 - 1
17-48619006-G-C c.1536G>C p.S512= Synonymous 9/10 - 1
17-48619006-G-T c.1536G>T p.S512= Synonymous 9/10 - 1
17-48619020-C-T c.1550C>T p.P517L Missense 9/10 - 1
17-48619026-T-C c.1556T>C p.V519A Missense 9/10 - 1
17-48619028-G-A c.1558G>A p.A520T Missense 9/10 - 1
17-48619032-A-C c.1562A>C p.K521T Missense 9/10 - 1
17-48619043-C-G c.1573C>G p.P525A Missense 9/10 - 1
17-48619045-C-A c.1575C>A p.P525= Synonymous 9/10 - 1
17-48619045-C-G c.1575C>G p.P525= Synonymous 9/10 - 1
17-48619045-C-T c.1575C>T p.P525= Synonymous 9/10 - 1
17-48619047-T-G c.1577T>G p.F526C Missense 9/10 - 1
17-48619048-C-T c.1578C>T p.F526= Synonymous 9/10 - 1
17-48619216-C-T c.1597C>T p.P533S Missense 10/10 - 2
17-48619219-T-C c.1600T>C p.S534P Missense 10/10 - 1
17-48619226-C-A c.1607C>A p.T536N Missense 10/10 - 1
17-48619226-C-T c.1607C>T p.T536I Missense 10/10 - 1
17-48619236-C-T c.1617C>T p.F539= Synonymous 10/10 - 1
17-48619237-G-A c.1618G>A p.G540S Missense 10/10 - 1
17-48619237-G-C c.1618G>C p.G540R Missense 10/10 - 2
17-48619243-G-T c.1624G>T p.G542C Missense 10/10 - 1
17-48619246-G-A c.1627G>A p.E543K Missense 10/10 - 1
17-48619248-G-C c.1629G>C p.E543D Missense 10/10 - 1
17-48619248-G-T c.1629G>T p.E543D Missense 10/10 - 1
17-48619249-C-A c.1630C>A p.P544T Missense 10/10 - 32
17-48619251-G-A c.1632G>A p.P544= Synonymous 10/10 - 2
17-48619251-G-C c.1632G>C p.P544= Synonymous 10/10 - 2
17-48619251-G-T c.1632G>T p.P544= Synonymous 10/10 - 2
17-48619252-G-GTGC c.1633_1634insTGC p.G545delinsVR MultiAAMissense 10/10 - 1
17-48619255-A-ATCT c.1636_1637insTCT p.R546delinsIW MultiAAMissense 10/10 - 1
17-48619255-AGG-TGT c.1636_1638delinsTGT p.R546C Missense 10/10 - 1
17-48619255-A-C c.1636A>C p.R546= Synonymous 10/10 - 1
17-48619257-G-A c.1638G>A p.R546= Synonymous 10/10 - 1
17-48619257-G-GTTTA c.1638_1639insTTTA p.P547Ffs*52 Frameshift 10/10 - 1
17-48619258-C-G c.1639C>G p.P547A Missense 10/10 - 1
17-48619261-A-T c.1642A>T p.T548S Missense 10/10 - 1
17-48619264-GCTAA-G c.1645_1648del p.L549Tfs*24 Frameshift 10/10 - 1
17-48619268-A-G c.1649A>G p.N550S Missense 10/10 - 2
17-48619271-CAGA-C c.1652_1654del p.Q551_M552delinsL MultiAAMissense 10/10 - 1
17-48619272-G-A c.1653G>A p.Q551= Synonymous 10/10 - 4
17-48619272-G-C c.1653G>C p.Q551H Missense 10/10 - 1
17-48619274-T-C c.1655T>C p.M552T Missense 10/10 - 14
17-48619276-CGC-TGG c.1657_1659delinsTGG p.R553W Missense 10/10 - 1
17-48619277-CGCA-C c.1658_1660del p.R553_T554delinsP MultiAAMissense 10/10 - 1
17-48619280-C-A c.1661C>A p.T554N Missense 10/10 - 1
17-48619287-G-A c.1668G>A p.S556= Synonymous 10/10 - 1
17-48619287-G-C c.1668G>C p.S556= Synonymous 10/10 - 1
17-48619287-G-T c.1668G>T p.S556= Synonymous 10/10 - 1
17-48619290-G-A c.1671G>A p.P557= Synonymous 10/10 - 4
17-48619290-G-C c.1671G>C p.P557= Synonymous 10/10 - 3
17-48619290-G-T c.1671G>T p.P557= Synonymous 10/10 - 1
17-48619307-G-A c.1688G>A p.G563D Missense 10/10 - 1
17-48619321-G-C c.1702G>C p.A568P Missense 10/10 - 2
17-48619327-C-A c.1708C>A p.L570M Missense 10/10 - 1
17-48619329-G-A c.1710G>A p.L570= Synonymous 10/10 - 2
17-48619330-G-C c.1711G>C p.G571R Missense 10/10 - 1
17-48619335-C-T c.1716C>T p.S572= Synonymous 10/10 - 1
17-48619343-A-G c.1724A>G p.Y575C Missense 10/10 - 2
17-48619349-C-T c.1730C>T p.A577V Missense 10/10 - 1
17-48619354-C-G c.1735C>G p.L579V Missense 10/10 - 1
17-48619355-T-C c.1736T>C p.L579P Missense 10/10 - 1
17-48619356-G-A c.1737G>A p.L579= Synonymous 10/10 - 1
17-48619362-C-T c.1743C>T p.L581= Synonymous 10/10 - 1
17-48619364-C-A c.1745C>A p.P582Q Missense 10/10 - 1
17-48619368-C-A c.1749C>A p.L583= Synonymous 10/10 - 1
17-48619368-C-G c.1749C>G p.L583= Synonymous 10/10 - 1
17-48619368-C-T c.1749C>T p.L583= Synonymous 10/10 - 1
17-48619372-A-C c.1753A>C p.S585R Missense 10/10 - 1
17-48619374-C-A c.1755C>A p.S585R Missense 10/10 - 1
17-48619374-C-G c.1755C>G p.S585R Missense 10/10 - 1
17-48619379-C-T c.1760C>T p.P587L Missense 10/10 - 1
17-48619384-G-A c.1765G>A p.G589S Missense 10/10 - 1
17-48619408-AG-GC c.1789_1790delinsGC p.S597A Missense 10/10 - 1
17-48619414-T-C c.1795T>C p.F599L Missense 10/10 - 2
17-48619420-C-G c.1801C>G p.Q601E Missense 10/10 - 1
17-48619442-CAG-C c.1823_1824del p.Q608Pfs*179 Frameshift 10/10 - 1
17-48619450-C-CAA c.1831_1832insAA p.L611Qfs*54 Frameshift 10/10 - 1
17-48619470-C-A c.1851C>A p.A617= Synonymous 10/10 - 1
17-48619476-G-A c.1857G>A p.P619= Synonymous 10/10 - 1
17-48619476-G-C c.1857G>C p.P619= Synonymous 10/10 - 1
17-48619476-G-T c.1857G>T p.P619= Synonymous 10/10 - 1
17-48619477-CGG-TGT c.1858_1860delinsTGT p.R620C Missense 10/10 - 2
17-48619490-C-G c.1871C>G p.P624R Missense 10/10 - 1
17-48619492-C-G c.1873C>G p.Q625E Missense 10/10 - 1
17-48619500-C-T c.1881C>T p.G627= Synonymous 10/10 - 1
17-48619603-G-A c.*85G>A - 3-UTRSNV 10/10 - 1
17-48620517-G-A c.*999G>A - 3-UTRSNV 10/10 - 2
17-48620517-G-T c.*999G>T - 3-UTRSNV 10/10 - 2