BDNF

BDNF brain derived neurotrophic factor

Annotation transcript: NM_001709.5

456 unique variant annotations were identified in 907 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
11-27679372-C-G c.740G>C p.R247T Missense 2/2 - 1
11-27679376-C-A c.736G>T p.G246* Nonsense 2/2 - 1
11-27679377-C-T c.735G>A p.R245= Synonymous 2/2 - 2
11-27679378-C-G c.734G>C p.R245T Missense 2/2 - 1
11-27679378-C-T c.734G>A p.R245K Missense 2/2 - 3
11-27679383-A-T c.729T>A p.I243= Synonymous 2/2 - 1
11-27679385-T-A c.727A>T p.I243F Missense 2/2 - 1
11-27679390-AA-GG c.721_722delinsCC p.L241P Missense 2/2 - 1
11-27679392-TG-CA c.719_720inv p.T240M Missense 2/2 - 1
11-27679392-TG-GT c.719_720delinsAC p.T240N Missense 2/2 - 1
11-27679393-G-C c.719C>G p.T240R Missense 2/2 - 1
11-27679399-A-G c.713T>C p.V238A Missense 2/2 - 1
11-27679405-GA-AG c.706_707delinsCT p.S236L Missense 2/2 - 1
11-27679411-TC-GG c.700_701delinsCC p.D234P Missense 2/2 - 1
11-27679416-CCT-ATG c.694_696delinsCAT p.R232H Missense 2/2 - 1
11-27679416-C-T c.696G>A p.R232= Synonymous 2/2 - 1
11-27679417-C-T c.695G>A p.R232K Missense 2/2 - 2
11-27679421-T-C c.691A>G p.I231V Missense 2/2 - 3
11-27679427-G-A c.685C>T p.R229* Nonsense 2/2 - 3
11-27679428-C-T c.684G>A p.W228* Nonsense 2/2 - 1
11-27679433-C-T c.679G>A p.G227S Missense 2/2 - 1
11-27679438-C-T c.674G>A p.R225K Missense 2/2 - 2
11-27679438-CT-TG c.673_674delinsCA p.R225Q Missense 2/2 - 3
11-27679444-T-C c.668A>G p.K223R Missense 2/2 - 1
11-27679447-C-G c.665G>C p.S222T Missense 2/2 - 2
11-27679447-C-T c.665G>A p.S222N Missense 2/2 - 2
11-27679447-CT-GC c.664_665delinsGC p.S222A Missense 2/2 - 1
11-27679451-C-A c.661G>T p.D221Y Missense 2/2 - 1
11-27679454-T-A c.658A>T p.M220L Missense 2/2 - 1
11-27679454-T-C c.658A>G p.M220V Missense 2/2 - 1
11-27679454-T-G c.658A>C p.M220L Missense 2/2 - 1
11-27679455-G-A c.657C>T p.T219= Synonymous 2/2 - 1
11-27679456-G-A c.656C>T p.T219I Missense 2/2 - 1
11-27679463-C-T c.649G>A p.A217T Missense 2/2 - 1
11-27679464-CC-AT c.647_648delinsAT p.R216H Missense 2/2 - 1
11-27679465-C-T c.647G>A p.R216Q Missense 2/2 - 1
11-27679466-G-A c.646C>T p.R216W Missense 2/2 - 1
11-27679470-G-A c.642C>T p.Y214= Synonymous 2/2 - 1
11-27679473-C-T c.639G>A p.S213= Synonymous 2/2 - 1
11-27679473-C-CG c.638dup p.Y214Vfs*9 Frameshift 2/2 - 1
11-27679474-G-A c.638C>T p.S213L Missense 2/2 - 1
11-27679478-G-C c.634C>G p.Q212E Missense 2/2 - 1
11-27679478-G-T c.634C>A p.Q212K Missense 2/2 - 2
11-27679480-G-GT c.631dup p.T211Nfs*12 Frameshift 2/2 - 1
11-27679485-TCG-CCA c.625_627delinsTGG p.R209W Missense 2/2 - 2
11-27679486-C-T c.626G>A p.R209Q Missense 2/2 - 3
11-27679487-G-A c.625C>T p.R209* Nonsense 2/2 - 2
11-27679488-G-A c.624C>T p.C208= Synonymous 2/2 - 1
11-27679490-A-G c.622T>C p.C208R Missense 2/2 - 1
11-27679492-T-TG c.619dup p.Q207Pfs*16 Frameshift 2/2 - 1
11-27679495-GA-TT c.616_617delinsAA p.S206N Missense 2/2 - 1
11-27679499-T-C c.613A>G p.N205D Missense 2/2 - 1
11-27679499-T-G c.613A>C p.N205H Missense 2/2 - 1
11-27679500-C-T c.612G>A p.W204* Nonsense 2/2 - 1
11-27679504-TG-AA c.607_608delinsTT p.H203F Missense 2/2 - 1
11-27679508-T-C c.604A>G p.R202G Missense 2/2 - 1
11-27679510-TT-GC c.601_602delinsGC p.K201A Missense 2/2 - 1
11-27679511-T-C c.601A>G p.K201E Missense 2/2 - 1
11-27679513-T-A c.599A>T p.D200V Missense 2/2 - 1
11-27679514-C-G c.598G>C p.D200H Missense 2/2 - 1
11-27679519-C-T c.593G>A p.G198D Missense 2/2 - 1
11-27679520-C-T c.592G>A p.G198S Missense 2/2 - 1
11-27679518-G-GC c.593dup p.I199Hfs*24 Frameshift 2/2 - 1
11-27679522-C-T c.590G>A p.R197K Missense 2/2 - 1
11-27679522-CT-TG c.589_590delinsCA p.R197Q Missense 2/2 - 2
11-27679525-CA-GT c.586_587delinsAC p.C196T Missense 2/2 - 2
11-27679528-C-T c.584G>A p.G195D Missense 2/2 - 1
11-27679529-C-T c.583G>A p.G195S Missense 2/2 - 5
11-27679530-T-G c.582A>C p.E194D Missense 2/2 - 1
11-27679532-C-T c.580G>A p.E194K Missense 2/2 - 2
11-27679534-T-C c.578A>G p.K193R Missense 2/2 - 1
11-27679535-T-C c.577A>G p.K193E Missense 2/2 - 2
11-27679536-TG-CA c.575_576inv p.T192M Missense 2/2 - 1
11-27679542-A-C c.570T>G p.G190= Synonymous 2/2 - 2
11-27679542-A-G c.570T>C p.G190= Synonymous 2/2 - 2
11-27679542-A-T c.570T>A p.G190= Synonymous 2/2 - 2
11-27679543-C-A c.569G>T p.G190V Missense 2/2 - 1
11-27679544-C-G c.568G>C p.G190R Missense 2/2 - 1
11-27679544-C-T c.568G>A p.G190S Missense 2/2 - 1
11-27679549-G-A c.563C>T p.P188L Missense 2/2 - 1
11-27679550-G-A c.562C>T p.P188S Missense 2/2 - 2
11-27679551-A-C c.561T>G p.N187K Missense 2/2 - 1
11-27679551-A-T c.561T>A p.N187K Missense 2/2 - 1
11-27679552-T-C c.560A>G p.N187S Missense 2/2 - 1
11-27679555-CA-GC c.556_557delinsGC p.C186A Missense 2/2 - 1
11-27679558-T-C c.554A>G p.K185R Missense 2/2 - 1
11-27679559-T-C c.553A>G p.K185E Missense 2/2 - 1
11-27679560-G-T c.552C>A p.T184= Synonymous 2/2 - 1
11-27679564-T-A c.548A>T p.E183V Missense 2/2 - 1
11-27679565-C-G c.547G>C p.E183Q Missense 2/2 - 1
11-27679565-C-T c.547G>A p.E183K Missense 2/2 - 10
11-27679566-G-A c.546C>T p.Y182= Synonymous 2/2 - 1
11-27679567-T-C c.545A>G p.Y182C Missense 2/2 - 1
11-27679570-A-C c.542T>G p.F181C Missense 2/2 - 1
11-27679571-A-G c.541T>C p.F181L Missense 2/2 - 1
11-27679573-T-G c.539A>C p.Y180S Missense 2/2 - 1
11-27679577-G-A c.535C>T p.Q179* Nonsense 2/2 - 1
11-27679579-T-C c.533A>G p.K178R Missense 2/2 - 1
11-27679580-T-C c.532A>G p.K178E Missense 2/2 - 1
11-27679581-C-A c.531G>T p.L177= Synonymous 2/2 - 1
11-27679581-C-G c.531G>C p.L177= Synonymous 2/2 - 1
11-27679581-C-T c.531G>A p.L177= Synonymous 2/2 - 1
11-27679583-G-A c.529C>T p.L177= Synonymous 2/2 - 1
11-27679584-T-C c.528A>G p.Q176= Synonymous 2/2 - 1
11-27679587-G-A c.525C>T p.G175= Synonymous 2/2 - 1
11-27679589-C-G c.523G>C p.G175R Missense 2/2 - 3
11-27679589-C-T c.523G>A p.G175S Missense 2/2 - 1
11-27679592-T-G c.520A>C p.K174Q Missense 2/2 - 1
11-27679600-G-A c.512C>T p.P171L Missense 2/2 - 1
11-27679604-C-T c.508G>A p.V170I Missense 2/2 - 1
11-27679605-C-T c.507G>A p.K169= Synonymous 2/2 - 1
11-27679605-CT-C c.506del p.K169Rfs*9 Frameshift 2/2 - 1
11-27679609-T-C c.503A>G p.E168G Missense 2/2 - 1
11-27679610-C-T c.502G>A p.E168K Missense 2/2 - 1
11-27679614-GAC-CAT c.496_498delinsATG p.V166M Missense 2/2 - 13
11-27679619-T-C c.493A>G p.T165A Missense 2/2 - 1
11-27679622-C-T c.490G>A p.V164I Missense 2/2 - 3
11-27679623-C-A c.489G>T p.T163= Synonymous 2/2 - 1
11-27679623-C-G c.489G>C p.T163= Synonymous 2/2 - 1
11-27679623-C-T c.489G>A p.T163= Synonymous 2/2 - 1
11-27679624-G-A c.488C>T p.T163M Missense 2/2 - 3
11-27679628-C-G c.484G>C p.G162R Missense 2/2 - 1
11-27679628-C-T c.484G>A p.G162R Missense 2/2 - 2
11-27679629-G-A c.483C>T p.G161= Synonymous 2/2 - 2
11-27679629-G-T c.483C>A p.G161= Synonymous 2/2 - 1
11-27679630-C-A c.482G>T p.G161V Missense 2/2 - 1
11-27679632-C-A c.480G>T p.S160= Synonymous 2/2 - 1
11-27679632-C-G c.480G>C p.S160= Synonymous 2/2 - 1
11-27679632-CG-AC c.479_480delinsGT p.S160C Missense 2/2 - 1
11-27679632-C-T c.480G>A p.S160= Synonymous 2/2 - 1
11-27679633-G-A c.479C>T p.S160L Missense 2/2 - 4
11-27679633-GA-TC c.478_479inv p.S160E Missense 2/2 - 1
11-27679633-G-T c.479C>A p.S160* Nonsense 2/2 - 1
11-27679634-A-C c.478T>G p.S160A Missense 2/2 - 1
11-27679640-C-T c.472G>A p.D158N Missense 2/2 - 1
11-27679649-T-A c.463A>T p.T155S Missense 2/2 - 1
11-27679659-CT-C c.453del p.D152Tfs*26 Frameshift 2/2 - 1
11-27679662-T-A c.450A>T p.A150= Synonymous 2/2 - 13
11-27679662-T-C c.450A>G p.A150= Synonymous 2/2 - 11
11-27679662-T-G c.450A>C p.A150= Synonymous 2/2 - 1
11-27679663-G-A c.449C>T p.A150V Missense 2/2 - 3
11-27679664-C-G c.448G>C p.A150P Missense 2/2 - 1
11-27679665-C-T c.447G>A p.T149= Synonymous 2/2 - 1
11-27679666-G-A c.446C>T p.T149M Missense 2/2 - 5
11-27679666-G-C c.446C>G p.T149R Missense 2/2 - 1
11-27679668-T-A c.444A>T p.V148= Synonymous 2/2 - 2
11-27679668-TAC-CAT c.442_444delinsATG p.V148M Missense 2/2 - 15
11-27679668-T-C c.444A>G p.V148= Synonymous 2/2 - 2
11-27679668-T-G c.444A>C p.V148= Synonymous 2/2 - 2
11-27679669-A-C c.443T>G p.V148G Missense 2/2 - 1
11-27679670-C-T c.442G>A p.V148I Missense 2/2 - 4
11-27679672-C-T c.440G>A p.W147* Nonsense 2/2 - 1
11-27679676-C-T c.436G>A p.E146K Missense 2/2 - 2
11-27679677-A-C c.435T>G p.S145R Missense 2/2 - 1
11-27679677-A-T c.435T>A p.S145R Missense 2/2 - 1
11-27679679-T-G c.433A>C p.S145R Missense 2/2 - 1
11-27679684-CT-GC c.427_428delinsGC p.S143A Missense 2/2 - 1
11-27679688-C-G c.424G>C p.D142H Missense 2/2 - 2
11-27679691-A-C c.421T>G p.C141G Missense 2/2 - 3
11-27679693-A-C c.419T>G p.V140G Missense 2/2 - 2
11-27679694-C-T c.418G>A p.V140M Missense 2/2 - 3
11-27679695-G-A c.417C>T p.S139= Synonymous 2/2 - 1
11-27679696-C-A c.416G>T p.S139I Missense 2/2 - 1
11-27679697-T-A c.415A>T p.S139C Missense 2/2 - 1
11-27679698-C-T c.414G>A p.L138= Synonymous 2/2 - 1
11-27679702-T-C c.410A>G p.E137G Missense 2/2 - 1
11-27679705-C-T c.407G>A p.G136E Missense 2/2 - 3
11-27679706-C-A c.406G>T p.G136W Missense 2/2 - 1
11-27679707-TCG-CCA c.403_405delinsTGG p.R135W Missense 2/2 - 1
11-27679708-C-A c.404G>T p.R135L Missense 2/2 - 1
11-27679708-C-T c.404G>A p.R135Q Missense 2/2 - 2
11-27679710-G-A c.402C>T p.R134= Synonymous 2/2 - 2
11-27679710-G-T c.402C>A p.R134= Synonymous 2/2 - 1
11-27679711-CG-GC c.400_401delinsGC p.R134A Missense 2/2 - 1
11-27679711-CG-TC c.400_401delinsGA p.R134D Missense 2/2 - 2
11-27679711-C-T c.401G>A p.R134H Missense 2/2 - 5
11-27679712-G-A c.400C>T p.R134C Missense 2/2 - 1
11-27679715-C-T c.397G>A p.A133T Missense 2/2 - 1
11-27679718-G-T c.394C>A p.P132T Missense 2/2 - 1
11-27679719-G-T c.393C>A p.D131E Missense 2/2 - 1
11-27679723-G-A c.389C>T p.S130F Missense 2/2 - 1
11-27679723-GA-TC c.388_389inv p.S130D Missense 2/2 - 1
11-27679723-G-C c.389C>G p.S130C Missense 2/2 - 1
11-27679724-A-C c.388T>G p.S130A Missense 2/2 - 2
11-27679724-A-G c.388T>C p.S130P Missense 2/2 - 1
11-27679729-C-T c.383G>A p.R128H Missense 2/2 - 2
11-27679730-G-A c.382C>T p.R128C Missense 2/2 - 1
11-27679730-G-C c.382C>G p.R128G Missense 2/2 - 1
11-27679730-G-T c.382C>A p.R128S Missense 2/2 - 1
11-27679731-CCG-GTC c.379_381delinsGAC p.R127D Missense 2/2 - 1
11-27679732-C-A c.380G>T p.R127L Missense 2/2 - 7
11-27679732-CG-GC c.379_380delinsGC p.R127A Missense 2/2 - 1
11-27679732-C-T c.380G>A p.R127Q Missense 2/2 - 5
11-27679733-G-A c.379C>T p.R127W Missense 2/2 - 3
11-27679736-C-A c.376G>T p.V126F Missense 2/2 - 1
11-27679736-C-G c.376G>C p.V126L Missense 2/2 - 1
11-27679737-CC-GA c.374_375delinsTC p.R125I Missense 2/2 - 1
11-27679738-C-A c.374G>T p.R125M Missense 2/2 - 6
11-27679739-T-A c.373A>T p.R125W Missense 2/2 - 3
11-27679742-T-C c.370A>G p.M124V Missense 2/2 - 1
11-27679747-A-G c.365T>C p.M122T Missense 2/2 - 1
11-27679748-T-C c.364A>G p.M122V Missense 2/2 - 1
11-27679749-GTT-TTG c.361_363delinsCAA p.N121Q Missense 2/2 - 1
11-27679757-C-T c.355G>A p.A119T Missense 2/2 - 1
11-27679763-G-T c.349C>A p.L117I Missense 2/2 - 1
11-27679765-T-A c.347A>T p.Y116F Missense 2/2 - 1
11-27679766-A-C c.346T>G p.Y116D Missense 2/2 - 1
11-27679767-A-C c.345T>G p.N115K Missense 2/2 - 1
11-27679767-A-T c.345T>A p.N115K Missense 2/2 - 1
11-27679768-T-C c.344A>G p.N115S Missense 2/2 - 1
11-27679769-T-A c.343A>T p.N115Y Missense 2/2 - 1
11-27679770-T-C c.342A>G p.K114= Synonymous 2/2 - 1
11-27679775-A-G c.337T>C p.Y113H Missense 2/2 - 1
11-27679778-C-T c.334G>A p.E112K Missense 2/2 - 2
11-27679780-T-G c.332A>C p.E111A Missense 2/2 - 1
11-27679783-AG-GC c.328_329delinsGC p.L110A Missense 2/2 - 1
11-27679791-G-A c.321C>T p.L107= Synonymous 2/2 - 1
11-27679791-G-C c.321C>G p.L107= Synonymous 2/2 - 2
11-27679792-A-G c.320T>C p.L107P Missense 2/2 - 2
11-27679793-G-A c.319C>T p.L107F Missense 2/2 - 3
11-27679796-G-C c.316C>G p.L106V Missense 2/2 - 1
11-27679801-G-A c.311C>T p.P104L Missense 2/2 - 1
11-27679802-G-A c.310C>T p.P104S Missense 2/2 - 1
11-27679803-C-T c.309G>A p.E103= Synonymous 2/2 - 2
11-27679808-A-T c.304T>A p.L102M Missense 2/2 - 1
11-27679810-G-C c.302C>G p.P101R Missense 2/2 - 1
11-27679810-G-T c.302C>A p.P101H Missense 2/2 - 1
11-27679811-G-A c.301C>T p.P101S Missense 2/2 - 1
11-27679812-CAC-GAT c.298_300delinsATC p.V100I Missense 2/2 - 1
11-27679812-CA-GT c.299_300delinsAC p.V100D Missense 2/2 - 8
11-27679819-C-T c.293G>A p.S98N Missense 2/2 - 3
11-27679822-CT-GC c.289_290delinsGC p.S97A Missense 2/2 - 1
11-27679824-G-A c.288C>T p.L96= Synonymous 2/2 - 2
11-27679824-G-C c.288C>G p.L96= Synonymous 2/2 - 1
11-27679824-G-T c.288C>A p.L96= Synonymous 2/2 - 1
11-27679833-C-T c.279G>A p.R93= Synonymous 2/2 - 1
11-27679835-T-G c.277A>C p.R93= Synonymous 2/2 - 1
11-27679834-C-A c.278G>T p.R93M Missense 2/2 - 1
11-27679834-C-T c.278G>A p.R93K Missense 2/2 - 1
11-27679836-G-T c.276C>A p.S92= Synonymous 2/2 - 1
11-27679840-G-A c.272C>T p.T91M Missense 2/2 - 1
11-27679840-G-C c.272C>G p.T91R Missense 2/2 - 1
11-27679843-T-C c.269A>G p.Y90C Missense 2/2 - 1
11-27679847-A-G c.265T>C p.L89= Synonymous 2/2 - 1
11-27679849-TC-AA c.262_263delinsTT p.D88F Missense 2/2 - 1
11-27679850-C-T c.262G>A p.D88N Missense 2/2 - 1
11-27679851-T-A c.261A>T p.A87= Synonymous 2/2 - 1
11-27679851-T-C c.261A>G p.A87= Synonymous 2/2 - 1
11-27679851-T-G c.261A>C p.A87= Synonymous 2/2 - 1
11-27679851-TG-GT c.260_261delinsAC p.A87D Missense 2/2 - 2
11-27679852-G-T c.260C>A p.A87E Missense 2/2 - 1
11-27679854-G-A c.258C>T p.D86= Synonymous 2/2 - 2
11-27679854-G-C c.258C>G p.D86E Missense 2/2 - 1
11-27679854-G-T c.258C>A p.D86E Missense 2/2 - 1
11-27679857-C-T c.255G>A p.K85= Synonymous 2/2 - 1
11-27679858-T-A c.254A>T p.K85M Missense 2/2 - 2
11-27679858-T-C c.254A>G p.K85R Missense 2/2 - 2
11-27679858-TT-GC c.253_254delinsGC p.K85A Missense 2/2 - 3
11-27679859-T-A c.253A>T p.K85* Nonsense 2/2 - 1
11-27679859-T-C c.253A>G p.K85E Missense 2/2 - 1
11-27679864-T-C c.248A>G p.N83S Missense 2/2 - 1
11-27679866-TTC-ACA c.244_246delinsTGT p.E82C Missense 2/2 - 1
11-27679867-T-G c.245A>C p.E82A Missense 2/2 - 1
11-27679868-C-T c.244G>A p.E82K Missense 2/2 - 1
11-27679869-TTC-AAA c.241_243delinsTTT p.E81F Missense 2/2 - 1
11-27679871-C-A c.241G>T p.E81* Nonsense 2/2 - 1
11-27679871-C-T c.241G>A p.E81K Missense 2/2 - 2
11-27679872-A-G c.240T>C p.N80= Synonymous 2/2 - 1
11-27679873-T-C c.239A>G p.N80S Missense 2/2 - 4
11-27679876-GG-AC c.235_236delinsGT p.P79V Missense 2/2 - 1
11-27679876-G-T c.236C>A p.P79H Missense 2/2 - 1
11-27679877-G-A c.235C>T p.P79S Missense 2/2 - 2
11-27679879-CG-GC c.232_233delinsGC p.R78A Missense 2/2 - 1
11-27679880-G-A c.232C>T p.R78W Missense 2/2 - 5
11-27679886-T-C c.226A>G p.K76E Missense 2/2 - 1
11-27679887-C-A c.225G>T p.Q75H Missense 2/2 - 4
11-27679887-C-G c.225G>C p.Q75H Missense 2/2 - 3
11-27679890-G-A c.222C>T p.D74= Synonymous 2/2 - 1
11-27679892-C-T c.220G>A p.D74N Missense 2/2 - 4
11-27679893-C-T c.219G>A p.E73= Synonymous 2/2 - 1
11-27679898-C-T c.214G>A p.D72N Missense 2/2 - 4
11-27679903-A-C c.209T>G p.L70R Missense 2/2 - 1
11-27679903-AG-GC c.208_209delinsGC p.L70A Missense 2/2 - 1
11-27679905-C-T c.207G>A p.E69= Synonymous 2/2 - 1
11-27679907-C-G c.205G>C p.E69Q Missense 2/2 - 1
11-27679910-C-G c.202G>C p.E68Q Missense 2/2 - 1
11-27679911-T-A c.201A>T p.I67= Synonymous 2/2 - 1
11-27679911-T-G c.201A>C p.I67= Synonymous 2/2 - 1
11-27679914-C-A c.198G>T p.V66= Synonymous 2/2 - 87
11-27679914-CAC-GAT c.196_198delinsATC p.V66I Missense 2/2 - 1
11-27679914-CAC-GTT c.196_198delinsAAC p.V66N Missense 2/2 - 8
11-27679914-C-G c.198G>C p.V66= Synonymous 2/2 - 87
11-27679914-C-T c.198G>A p.V66= Synonymous 2/2 - 87
11-27679915-AC-GG c.196_197delinsCC p.V66P Missense 2/2 - 2
11-27679916-C-T c.196G>A p.V66M Missense 2/2 - 2135
11-27679918-T-A c.194A>T p.H65L Missense 2/2 - 1
11-27679920-T-A c.192A>T p.E64D Missense 2/2 - 4
11-27679920-T-G c.192A>C p.E64D Missense 2/2 - 4
11-27679922-C-T c.190G>A p.E64K Missense 2/2 - 7
11-27679923-G-A c.189C>T p.F63= Synonymous 2/2 - 1
11-27679926-A-C c.186T>G p.T62= Synonymous 2/2 - 1
11-27679926-A-G c.186T>C p.T62= Synonymous 2/2 - 1
11-27679926-A-T c.186T>A p.T62= Synonymous 2/2 - 1
11-27679927-G-A c.185C>T p.T62I Missense 2/2 - 1
11-27679928-T-C c.184A>G p.T62A Missense 2/2 - 1
11-27679928-T-G c.184A>C p.T62P Missense 2/2 - 1
11-27679930-T-C c.182A>G p.D61G Missense 2/2 - 2
11-27679931-C-A c.181G>T p.D61Y Missense 2/2 - 1
11-27679934-C-T c.178G>A p.A60T Missense 2/2 - 1
11-27679939-G-A c.173C>T p.S58L Missense 2/2 - 2
11-27679943-T-A c.169A>T p.T57S Missense 2/2 - 2
11-27679944-C-T c.168G>A p.L56= Synonymous 2/2 - 1
11-27679945-AA-GT c.166_167delinsAC p.L56T Missense 2/2 - 1
11-27679948-C-G c.164G>C p.G55A Missense 2/2 - 1
11-27679949-C-G c.163G>C p.G55R Missense 2/2 - 1
11-27679955-A-G c.157T>C p.S53P Missense 2/2 - 1
11-27679956-A-C c.156T>G p.G52= Synonymous 2/2 - 1
11-27679956-A-G c.156T>C p.G52= Synonymous 2/2 - 1
11-27679956-A-T c.156T>A p.G52= Synonymous 2/2 - 1
11-27679958-C-T c.154G>A p.G52S Missense 2/2 - 1
11-27679959-TGC-AAA c.151_153delinsTTT p.A51F Missense 2/2 - 1
11-27679959-TGC-ACA c.151_153delinsTGT p.A51C Missense 2/2 - 1
11-27679960-GC-CT c.151_152delinsAG p.A51R Missense 2/2 - 2
11-27679960-G-T c.152C>A p.A51E Missense 2/2 - 1
11-27679961-C-T c.151G>A p.A51T Missense 2/2 - 4
11-27679962-CTT-GTC c.148_150delinsGAC p.K50D Missense 2/2 - 1
11-27679963-T-C c.149A>G p.K50R Missense 2/2 - 1
11-27679972-T-C c.140A>G p.N47S Missense 2/2 - 1
11-27679976-C-T c.136G>A p.V46M Missense 2/2 - 1
11-27679977-G-C c.135C>G p.S45R Missense 2/2 - 1
11-27679977-G-T c.135C>A p.S45R Missense 2/2 - 1
11-27679979-T-G c.133A>C p.S45R Missense 2/2 - 2
11-27679982-C-A c.130G>T p.E44* Nonsense 2/2 - 1
11-27679985-G-A c.127C>T p.L43= Synonymous 2/2 - 1
11-27679987-G-A c.125C>T p.T42I Missense 2/2 - 1
11-27679988-T-C c.124A>G p.T42A Missense 2/2 - 1
11-27679989-CC-GT c.122_123delinsAC p.G41D Missense 2/2 - 2
11-27679989-C-T c.123G>A p.G41= Synonymous 2/2 - 2
11-27679990-CC-TT c.121_122delinsAA p.G41K Missense 2/2 - 3
11-27679990-C-T c.122G>A p.G41E Missense 2/2 - 1
11-27679991-C-A c.121G>T p.G41W Missense 2/2 - 1
11-27679991-C-G c.121G>C p.G41R Missense 2/2 - 3
11-27679991-C-T c.121G>A p.G41R Missense 2/2 - 4
11-27679992-A-G c.120T>C p.H40= Synonymous 2/2 - 2
11-27679993-T-TG c.118dup p.H40Pfs*22 Frameshift 2/2 - 1
11-27679998-CCG-GTC c.112_114delinsGAC p.R38D Missense 2/2 - 1
11-27679999-C-T c.113G>A p.R38Q Missense 2/2 - 1
11-27680000-G-A c.112C>T p.R38W Missense 2/2 - 3
11-27680001-CAC-GAT c.109_111delinsATC p.V37I Missense 2/2 - 1
11-27680001-C-T c.111G>A p.V37= Synonymous 2/2 - 1
11-27680002-A-C c.110T>G p.V37G Missense 2/2 - 1
11-27680002-A-G c.110T>C p.V37A Missense 2/2 - 1
11-27680003-C-T c.109G>A p.V37M Missense 2/2 - 1
11-27680004-A-C c.108T>G p.G36= Synonymous 2/2 - 1
11-27680004-A-G c.108T>C p.G36= Synonymous 2/2 - 1
11-27680004-A-T c.108T>A p.G36= Synonymous 2/2 - 1
11-27680007-TGG-CAT c.103_105delinsATG p.P35M Missense 2/2 - 1
11-27680008-G-A c.104C>T p.P35L Missense 2/2 - 1
11-27680008-GG-CC c.103_104inv p.P35G Missense 2/2 - 29
11-27680009-G-A c.103C>T p.P35S Missense 2/2 - 1
11-27680012-TAG-T c.99_100del p.Y34Pfs*27 Frameshift 2/2 - 1
11-27680014-GC-AA c.97_98delinsTT p.A33F Missense 2/2 - 2
11-27680014-GC-CA c.97_98delinsTG p.A33C Missense 2/2 - 2
11-27680023-C-A c.89G>T p.G30V Missense 2/2 - 1
11-27680024-C-T c.88G>A p.G30S Missense 2/2 - 1
11-27680025-T-A c.87A>T p.Q29H Missense 2/2 - 2
11-27680025-T-C c.87A>G p.Q29= Synonymous 2/2 - 1
11-27680025-T-G c.87A>C p.Q29H Missense 2/2 - 2
11-27680027-G-A c.85C>T p.Q29* Nonsense 2/2 - 1
11-27680028-TCC-ACA c.82_84delinsTGT p.G28C Missense 2/2 - 1
11-27680032-CG-TC c.79_80delinsGA p.R27E Missense 2/2 - 1
11-27680033-G-A c.79C>T p.R27* Nonsense 2/2 - 2
11-27680034-G-A c.78C>T p.I26= Synonymous 2/2 - 1
11-27680035-A-G c.77T>C p.I26T Missense 2/2 - 1
11-27680037-GTT-TTG c.73_75delinsCAA p.N25Q Missense 2/2 - 1
11-27680041-GC-TA c.70_71delinsTA p.A24* Nonsense 2/2 - 2
11-27680043-T-A c.69A>T p.E23D Missense 2/2 - 1
11-27680043-T-C c.69A>G p.E23= Synonymous 2/2 - 1
11-27680043-T-G c.69A>C p.E23D Missense 2/2 - 1
11-27680045-C-T c.67G>A p.E23K Missense 2/2 - 2
11-27680046-T-C c.66A>G p.K22= Synonymous 2/2 - 1
11-27680046-TTT-AAA c.64_66inv p.K22F Missense 2/2 - 1
11-27680046-TTT-ACA c.64_66delinsTGT p.K22C Missense 2/2 - 1
11-27680049-C-T c.63G>A p.M21I Missense 2/2 - 2
11-27680050-A-G c.62T>C p.M21T Missense 2/2 - 1
11-27680050-A-T c.62T>A p.M21K Missense 2/2 - 1
11-27680054-G-A c.58C>T p.P20S Missense 2/2 - 2
11-27680055-G-A c.57C>T p.A19= Synonymous 2/2 - 1
11-27680055-G-C c.57C>G p.A19= Synonymous 2/2 - 1
11-27680055-G-T c.57C>A p.A19= Synonymous 2/2 - 1
11-27680056-G-A c.56C>T p.A19V Missense 2/2 - 1
11-27680056-G-C c.56C>G p.A19G Missense 2/2 - 1
11-27680056-GC-AA c.55_56delinsTT p.A19F Missense 2/2 - 1
11-27680056-GC-CA c.55_56delinsTG p.A19C Missense 2/2 - 2
11-27680056-GC-TT c.55_56delinsAA p.A19N Missense 2/2 - 3
11-27680059-GC-AA c.52_53delinsTT p.A18F Missense 2/2 - 2
11-27680061-C-A c.51G>T p.K17N Missense 2/2 - 1
11-27680061-C-G c.51G>C p.K17N Missense 2/2 - 1
11-27680061-CT-GA c.50_51delinsTC p.K17I Missense 2/2 - 1
11-27680061-CTT-AAA c.49_51delinsTTT p.K17F Missense 2/2 - 1
11-27680060-CCTT-C c.49_51del p.K17del InFrameDeletion 2/2 - 2
11-27680064-C-A c.48G>T p.M16I Missense 2/2 - 1
11-27680064-C-G c.48G>C p.M16I Missense 2/2 - 1
11-27680064-C-T c.48G>A p.M16I Missense 2/2 - 5
11-27680066-T-C c.46A>G p.M16V Missense 2/2 - 1
11-27680067-G-GATTA c.44_45insTAAT p.M16Nfs*47 Frameshift 2/2 - 1
11-27680068-CA-TC c.43_44delinsGA p.C15D Missense 2/2 - 1
11-27680068-CA-TG c.43_44inv p.C15H Missense 2/2 - 1
11-27680074-AA-GC c.37_38delinsGC p.F13A Missense 2/2 - 5
11-27680074-AA-TC c.37_38delinsGA p.F13D Missense 2/2 - 1
11-27680075-A-T c.37T>A p.F13I Missense 2/2 - 1
11-27680077-T-C c.35A>G p.Y12C Missense 2/2 - 2
11-27680078-A-T c.34T>A p.Y12N Missense 2/2 - 1
11-27680079-TG-AA c.32_33delinsTT p.S11F Missense 2/2 - 4
11-27680079-TGA-ATG c.31_33delinsCAT p.S11H Missense 2/2 - 1
11-27680079-TG-AC c.32_33delinsGT p.S11C Missense 2/2 - 18
11-27680079-TGA-GTC c.31_33delinsGAC p.S11D Missense 2/2 - 10
11-27680080-G-A c.32C>T p.S11L Missense 2/2 - 2
11-27680080-GA-CC c.31_32delinsGG p.S11G Missense 2/2 - 3
11-27680080-GA-TC c.31_32inv p.S11E Missense 2/2 - 7
11-27680080-GA-TT c.31_32delinsAA p.S11K Missense 2/2 - 1
11-27680081-A-C c.31T>G p.S11A Missense 2/2 - 45
11-27680082-A-G c.30T>C p.I10= Synonymous 2/2 - 1
11-27680082-A-T c.30T>A p.I10= Synonymous 2/2 - 1
11-27680083-A-C c.29T>G p.I10S Missense 2/2 - 1
11-27680084-T-G c.28A>C p.I10L Missense 2/2 - 1
11-27680087-C-T c.25G>A p.V9I Missense 2/2 - 2
11-27680088-C-A c.24G>T p.M8I Missense 2/2 - 2
11-27680088-C-G c.24G>C p.M8I Missense 2/2 - 1
11-27680088-C-T c.24G>A p.M8I Missense 2/2 - 2
11-27680091-A-C c.21T>G p.T7= Synonymous 2/2 - 5
11-27680091-A-G c.21T>C p.T7= Synonymous 2/2 - 5
11-27680091-A-T c.21T>A p.T7= Synonymous 2/2 - 5
11-27680094-A-C c.18T>G p.L6= Synonymous 2/2 - 4
11-27680094-A-G c.18T>C p.L6= Synonymous 2/2 - 4
11-27680094-A-T c.18T>A p.L6= Synonymous 2/2 - 4
11-27680100-A-C c.12T>G p.L4= Synonymous 2/2 - 1
11-27680100-A-G c.12T>C p.L4= Synonymous 2/2 - 1
11-27680100-A-T c.12T>A p.L4= Synonymous 2/2 - 1
11-27680103-G-A c.9C>T p.I3= Synonymous 2/2 - 2
11-27680103-G-C c.9C>G p.I3M Missense 2/2 - 1
11-27680103-G-T c.9C>A p.I3= Synonymous 2/2 - 1
11-27680106-G-A c.6C>T p.T2= Synonymous 2/2 - 13
11-27680106-G-C c.6C>G p.T2= Synonymous 2/2 - 13
11-27680106-G-T c.6C>A p.T2= Synonymous 2/2 - 13
11-27680107-G-A c.5C>T p.T2I Missense 2/2 - 13
11-27680107-G-T c.5C>A p.T2N Missense 2/2 - 1
11-27680744-A-T c.-21-612T>A - IntronicSNV - 1/1 40
11-27719559-A-C c.-22+2152T>G - intron_variant - 1/1 4
11-27720808-C-T c.-22+903G>A - intron_variant - 1/1 1
11-27720937-C-A c.-22+774G>T - intron_variant - 1/1 11
11-27720937-C-G c.-22+774G>C - intron_variant - 1/1 11
11-27720937-C-T c.-22+774G>A - intron_variant - 1/1 11
11-27720983-C-T c.-22+728G>A - intron_variant - 1/1 1
11-27721735-G-A c.-46C>T - 5_prime_UTR_variant 1/2 - 23
11-27721978-T-G c.-289A>C - 5_prime_UTR_variant 1/2 - 4