MFSD2A

MFSD2A major facilitator superfamily domain containing 2A

Annotation transcript: NM_032793.5

475 unique variant annotations were identified in 193 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
1-40420842-G-C c.-123G>C - 5-UTRSNV 1/14 - 2
1-40420878-C-G c.-87C>G - 5-UTRSNV 1/14 - 1
1-40420970-C-A c.6C>A p.A2= Synonymous 1/14 - 2
1-40420970-C-G c.6C>G p.A2= Synonymous 1/14 - 1
1-40420970-C-T c.6C>T p.A2= Synonymous 1/14 - 1
1-40420973-A-G c.9A>G p.K3= Synonymous 1/14 - 1
1-40420974-G-A c.10G>A p.G4R Missense 1/14 - 4
1-40420977-G-A c.13G>A p.E5K Missense 1/14 - 1
1-40420981-G-A c.17G>A p.G6D Missense 1/14 - 1
1-40420981-G-T c.17G>T p.G6V Missense 1/14 - 3
1-40420985-C-A c.21C>A p.A7= Synonymous 1/14 - 1
1-40420990-G-A c.26G>A p.S9N Missense 1/14 - 1
1-40420989-A-C c.25A>C p.S9R Missense 1/14 - 1
1-40420991-C-A c.27C>A p.S9R Missense 1/14 - 2
1-40420991-C-G c.27C>G p.S9R Missense 1/14 - 1
1-40420992-G-T c.28G>T p.G10C Missense 1/14 - 1
1-40420995-T-G c.31T>G p.S11A Missense 1/14 - 1
1-40420996-C-T c.32C>T p.S11F Missense 1/14 - 2
1-40420998-GC-CA c.34_35delinsCA p.A12Q Missense 1/14 - 1
1-40421001-GC-TG c.37_38delinsTG p.A13W Missense 1/14 - 1
1-40421019-CA-C c.55del p.S19Afs*12 Frameshift 1/14 - 1
1-40421021-C-T c.57C>T p.S19= Synonymous 1/14 - 1
1-40421025-CT-AC c.61_62delinsAC p.L21T Missense 1/14 - 1
1-40421027-C-T c.63C>T p.L21= Synonymous 1/14 - 1
1-40421032-G-A c.68G>A p.S23N Missense 1/14 - 2
1-40421034-A-C c.70A>C p.T24P Missense 1/14 - 1
1-40421041-G-T c.77G>T p.R26L Missense 1/14 - 1
1-40421042-C-A c.78C>A p.R26= Synonymous 1/14 - 1
1-40421042-C-G c.78C>G p.R26= Synonymous 1/14 - 1
1-40421042-C-T c.78C>T p.R26= Synonymous 1/14 - 1
1-40421043-C-T c.79C>T p.P27S Missense 1/14 - 4
1-40421044-C-A c.80C>A p.P27Q Missense 1/14 - 1
1-40421045-G-A c.81G>A p.P27= Synonymous 1/14 - 1
1-40421045-G-C c.81G>C p.P27= Synonymous 1/14 - 1
1-40421045-G-T c.81G>T p.P27= Synonymous 1/14 - 1
1-40421046-GC-TT c.82_83delinsTT p.A28F Missense 1/14 - 1
1-40421047-C-G c.83C>G p.A28G Missense 1/14 - 1
1-40421073-C-A c.93+16C>A - IntronicSNV - 1/13 1
1-40421184-C-T c.93+127C>T - IntronicSNV - 1/13 1
1-40421521-T-C c.93+464T>C - IntronicSNV - 1/13 1
1-40421521-TAA-T c.93+466_93+467del - IntronicDeletion - 1/13 1
1-40421818-C-G c.93+761C>G - IntronicSNV - 1/13 1
1-40422763-A-G c.98A>G p.E33G Missense 2/14 - 1
1-40422765-C-T c.100C>T p.P34S Missense 2/14 - 1
1-40422778-A-G c.113A>G p.K38R Missense 2/14 - 5
1-40422790-C-G c.125C>G p.S42C Missense 2/14 - 1
1-40422800-C-A c.135C>A p.N45K Missense 2/14 - 1
1-40422802-A-G c.137A>G p.K46R Missense 2/14 - 1
1-40422804-CT-AC c.139_140delinsAC p.L47T Missense 2/14 - 1
1-40422809-C-CT c.145dup p.Y49Lfs*107 Frameshift 2/14 - 1
1-40422810-T-C c.145T>C p.Y49H Missense 2/14 - 1
1-40422813-G-A c.148G>A p.A50T Missense 2/14 - 1
1-40422814-C-G c.149C>G p.A50G Missense 2/14 - 5
1-40422814-C-T c.149C>T p.A50V Missense 2/14 - 1
1-40422823-G-A c.158G>A p.G53E Missense 2/14 - 3
1-40422825-G-T c.160G>T p.A54S Missense 2/14 - 1
1-40422826-C-G c.161C>G p.A54G Missense 2/14 - 1
1-40422828-C-T c.163C>T p.P55S Missense 2/14 - 2
1-40422829-C-A c.164C>A p.P55H Missense 2/14 - 1
1-40422829-C-T c.164C>T p.P55L Missense 2/14 - 4
1-40422825-GC-G c.165del p.Y56Tfs*3 Frameshift 2/14 - 1
1-40422831-CT-C c.166del p.Y56Tfs*3 Frameshift 2/14 - 1
1-40422833-C-G c.168C>G p.Y56* Nonsense 2/14 - 1
1-40422834-C-G c.169C>G p.Q57E Missense 2/14 - 1
1-40422841-C-T c.176C>T p.T59M Missense 2/14 - 3
1-40422842-G-A c.177G>A p.T59= Synonymous 2/14 - 1
1-40422842-G-C c.177G>C p.T59= Synonymous 2/14 - 1
1-40422842-G-T c.177G>T p.T59= Synonymous 2/14 - 1
1-40422846-T-C c.181T>C p.C61R Missense 2/14 - 3
1-40422848-T-C c.183T>C p.C61= Synonymous 2/14 - 1
1-40422849-G-C c.184G>C p.A62P Missense 2/14 - 1
1-40422849-GC-AA c.184_185delinsAA p.A62N Missense 2/14 - 1
1-40422849-GC-TT c.184_185delinsTT p.A62F Missense 2/14 - 1
1-40422849-G-T c.184G>T p.A62S Missense 2/14 - 1
1-40422852-CT-AC c.187_188delinsAC p.L63T Missense 2/14 - 1
1-40422855-G-T c.190G>T p.G64C Missense 2/14 - 1
1-40422863-C-T c.198C>T p.F66= Synonymous 2/14 - 3
1-40422864-C-T c.199C>T p.L67F Missense 2/14 - 1
1-40422867-C-T c.202C>T p.Q68* Nonsense 2/14 - 4
1-40422869-G-C c.204G>C p.Q68H Missense 2/14 - 1
1-40422871-T-C c.206T>C p.I69T Missense 2/14 - 1
1-40422876-C-A c.211C>A p.L71I Missense 2/14 - 3
1-40422876-C-T c.211C>T p.L71= Synonymous 2/14 - 1
1-40422878-A-C c.213A>C p.L71= Synonymous 2/14 - 1
1-40422878-A-G c.213A>G p.L71= Synonymous 2/14 - 1
1-40422878-A-T c.213A>T p.L71= Synonymous 2/14 - 1
1-40422879-TT-AC c.214_215delinsAC p.L72T Missense 2/14 - 1
1-40422881-G-C c.216G>C p.L72F Missense 2/14 - 1
1-40422881-G-T c.216G>T p.L72F Missense 2/14 - 1
1-40422882-G-A c.217G>A p.D73N Missense 2/14 - 1
1-40422886-T-A c.221T>A p.V74E Missense 2/14 - 1
1-40422889-CT-AG c.224_225inv p.A75E Missense 2/14 - 1
1-40422891-C-A c.226C>A p.Q76K Missense 2/14 - 1
1-40424341-A-T c.229-32A>T - IntronicSNV - 2/13 1
1-40424379-C-T c.235C>T p.P79S Missense 3/14 - 1
1-40424385-TCTG-T c.243_245del p.A82del InFrameDeletion 3/14 - 1
1-40424388-G-A c.244G>A p.A82T Missense 3/14 - 1
1-40424388-GC-TG c.244_245delinsTG p.A82C Missense 3/14 - 1
1-40424400-CTG-TTT c.256_258delinsTTT p.L86F Missense 3/14 - 1
1-40424401-T-C c.257T>C p.L86P Missense 3/14 - 1
1-40424409-G-A c.265G>A p.G89S Missense 3/14 - 1
1-40424412-CGA-TGG c.268_270delinsTGG p.R90W Missense 3/14 - 1
1-40424412-CG-GC c.268_269delinsGC p.R90A Missense 3/14 - 1
1-40424418-T-C c.274T>C p.W92R Missense 3/14 - 1
1-40424419-G-A c.275G>A p.W92* Nonsense 3/14 - 1
1-40424422-A-C c.278A>C p.D93A Missense 3/14 - 1
1-40424425-C-T c.281C>T p.A94V Missense 3/14 - 2
1-40424426-C-T c.282C>T p.A94= Synonymous 3/14 - 1
1-40424433-G-A c.289G>A p.D97N Missense 3/14 - 2
1-40424434-A-C c.290A>C p.D97A Missense 3/14 - 4
1-40424435-C-G c.291C>G p.D97E Missense 3/14 - 1
1-40424442-G-A c.298G>A p.V100M Missense 3/14 - 1
1-40424445-G-A c.301G>A p.G101S Missense 3/14 - 1
1-40424448-C-T c.304C>T p.L102F Missense 3/14 - 2
1-40424457-AG-CC c.313_314delinsCC p.S105P Missense 3/14 - 1
1-40424457-AG-TT c.313_314delinsTT p.S105F Missense 3/14 - 1
1-40424463-T-C c.319T>C p.S107P Missense 3/14 - 1
1-40424465-C-T c.321C>T p.S107= Synonymous 3/14 - 1
1-40424466-C-G c.322C>G p.P108A Missense 3/14 - 1
1-40424466-C-T c.322C>T p.P108S Missense 3/14 - 1
1-40424467-C-G c.323C>G p.P108R Missense 3/14 - 1
1-40424482-G-A c.338G>A p.G113D Missense 3/14 - 1
1-40424482-G-T c.338G>T p.G113V Missense 3/14 - 1
1-40424484-C-T c.340C>T p.R114C Missense 3/14 - 1
1-40424485-G-A c.341G>A p.R114H Missense 3/14 - 1
1-40424486-C-A c.342C>A p.R114= Synonymous 3/14 - 1
1-40424486-C-G c.342C>G p.R114= Synonymous 3/14 - 1
1-40424486-C-T c.342C>T p.R114= Synonymous 3/14 - 1
1-40424487-C-A c.343C>A p.L115I Missense 3/14 - 1
1-40424487-C-T c.343C>T p.L115F Missense 3/14 - 5
1-40424494-C-G c.350C>G p.P117R Missense 3/14 - 2
1-40424497-G-A c.353G>A p.W118* Nonsense 3/14 - 2
1-40424497-G-C c.353G>C p.W118S Missense 3/14 - 1
1-40430883-G-A c.354G>A p.W118* Nonsense 4/14 - 2
1-40427975-C-T c.354-2908C>T - IntronicSNV - 3/13 1
1-40428291-T-C c.354-2592T>C - IntronicSNV - 3/13 1
1-40428328-G-T c.354-2555G>T - IntronicSNV - 3/13 1
1-40428587-G-T c.354-2296G>T - IntronicSNV - 3/13 1
1-40430884-A-C c.355A>C p.I119L Missense 4/14 - 1
1-40430884-A-G c.355A>G p.I119V Missense 4/14 - 1
1-40430894-C-G c.365C>G p.S122C Missense 4/14 - 1
1-40430897-C-T c.368C>T p.T123M Missense 4/14 - 1
1-40430898-G-T c.369G>T p.T123= Synonymous 4/14 - 1
1-40430902-C-A c.373C>A p.L125M Missense 4/14 - 1
1-40430902-CT-AC c.373_374delinsAC p.L125T Missense 4/14 - 1
1-40430907-C-A c.378C>A p.A126= Synonymous 4/14 - 1
1-40430907-C-G c.378C>G p.A126= Synonymous 4/14 - 1
1-40430907-C-T c.378C>T p.A126= Synonymous 4/14 - 5
1-40430908-G-A c.379G>A p.V127I Missense 4/14 - 1
1-40430908-G-C c.379G>C p.V127L Missense 4/14 - 1
1-40430909-T-C c.380T>C p.V127A Missense 4/14 - 1
1-40430914-G-A c.385G>A p.A129T Missense 4/14 - 1
1-40430918-A-T c.389A>T p.Y130F Missense 4/14 - 1
1-40430919-C-T c.390C>T p.Y130= Synonymous 4/14 - 1
1-40430935-G-A c.406G>A p.V136M Missense 4/14 - 1
1-40430939-C-A c.410C>A p.P137H Missense 4/14 - 1
1-40430939-C-T c.410C>T p.P137L Missense 4/14 - 1
1-40430940-C-A c.411C>A p.P137= Synonymous 4/14 - 2
1-40430940-C-G c.411C>G p.P137= Synonymous 4/14 - 2
1-40430940-C-T c.411C>T p.P137= Synonymous 4/14 - 3
1-40430941-G-A c.412G>A p.D138N Missense 4/14 - 1
1-40430941-G-T c.412G>T p.D138Y Missense 4/14 - 1
1-40430946-C-T c.417C>T p.F139= Synonymous 4/14 - 2
1-40430955-C-T c.426C>T p.G142= Synonymous 4/14 - 1
1-40430964-T-C c.435T>C p.Y145= Synonymous 4/14 - 1
1-40430970-C-T c.441C>T p.Y147= Synonymous 4/14 - 1
1-40430974-C-T c.445C>T p.L149F Missense 4/14 - 1
1-40430996-C-T c.467C>T p.T156I Missense 4/14 - 1
1-40430998-A-G c.469A>G p.M157V Missense 4/14 - 2
1-40431000-G-A c.471G>A p.M157I Missense 4/14 - 1
1-40431004-AC-CT c.475_476delinsCT p.T159L Missense 4/14 - 1
1-40431004-A-T c.475A>T p.T159S Missense 4/14 - 1
1-40431005-C-T c.476C>T p.T159M Missense 4/14 - 3
1-40431006-G-A c.477G>A p.T159= Synonymous 4/14 - 1
1-40431006-G-C c.477G>C p.T159= Synonymous 4/14 - 1
1-40431008-GT-G c.477+2del - IntronicDeletion - 4/13 1
1-40431155-C-A c.490C>A p.P164T Missense 5/14 - 1
1-40431157-C-A c.492C>A p.P164= Synonymous 5/14 - 1
1-40431157-C-G c.492C>G p.P164= Synonymous 5/14 - 1
1-40431157-C-T c.492C>T p.P164= Synonymous 5/14 - 2
1-40431161-T-A c.496T>A p.S166T Missense 5/14 - 1
1-40431162-C-T c.497C>T p.S166L Missense 5/14 - 6
1-40431163-G-A c.498G>A p.S166= Synonymous 5/14 - 1
1-40431164-G-A c.499G>A p.A167T Missense 5/14 - 1
1-40431167-C-A c.502C>A p.L168I Missense 5/14 - 1
1-40431167-C-T c.502C>T p.L168F Missense 5/14 - 1
1-40431172-C-T c.507C>T p.T169= Synonymous 5/14 - 1
1-40431173-A-G c.508A>G p.M170V Missense 5/14 - 1
1-40431174-T-C c.509T>C p.M170T Missense 5/14 - 1
1-40431176-T-C c.511T>C p.F171L Missense 5/14 - 1
1-40431178-C-A c.513C>A p.F171L Missense 5/14 - 1
1-40431178-C-G c.513C>G p.F171L Missense 5/14 - 1
1-40431187-C-T c.522C>T p.T174= Synonymous 5/14 - 2
1-40431190-G-A c.525G>A p.E175= Synonymous 5/14 - 1
1-40431190-G-C c.525G>C p.E175D Missense 5/14 - 1
1-40431190-G-T c.525G>T p.E175D Missense 5/14 - 1
1-40431207-C-T c.542C>T p.S181F Missense 5/14 - 1
1-40431210-C-G c.545C>G p.A182G Missense 5/14 - 1
1-40431212-A-C c.547A>C p.T183P Missense 5/14 - 1
1-40431213-C-T c.548C>T p.T183I Missense 5/14 - 1
1-40431214-C-T c.549C>T p.T183= Synonymous 5/14 - 1
1-40431217-C-T c.552C>T p.A184= Synonymous 5/14 - 1
1-40431221-C-T c.556C>T p.R186W Missense 5/14 - 3
1-40431222-G-A c.556+1G>A - IntronicSNV - 5/13 2
1-40431529-G-A c.557G>A p.R186Q Missense 6/14 - 1
1-40431535-C-T c.563C>T p.T188I Missense 6/14 - 2
1-40431537-G-A c.565G>A p.V189M Missense 6/14 - 2
1-40431539-G-A c.567G>A p.V189= Synonymous 6/14 - 1
1-40431550-G-A c.578G>A p.G193D Missense 6/14 - 1
1-40431550-GC-AG c.578_579delinsAG p.G193E Missense 6/14 - 1
1-40431541-AAGTGCTGGGCAC-A c.582_593del p.V195_T198del InFrameDeletion 6/14 - 1
1-40431565-C-T c.593C>T p.T198M Missense 6/14 - 1
1-40431566-G-A c.594G>A p.T198= Synonymous 6/14 - 1
1-40431566-G-C c.594G>C p.T198= Synonymous 6/14 - 1
1-40431566-G-T c.594G>T p.T198= Synonymous 6/14 - 1
1-40431568-C-T c.596C>T p.A199V Missense 6/14 - 1
1-40431569-G-A c.597G>A p.A199= Synonymous 6/14 - 1
1-40431572-C-A c.600C>A p.I200= Synonymous 6/14 - 1
1-40431572-C-T c.600C>T p.I200= Synonymous 6/14 - 1
1-40431575-G-C c.603G>C p.Q201H Missense 6/14 - 1
1-40431575-G-T c.603G>T p.Q201H Missense 6/14 - 1
1-40431581-A-C c.609A>C p.Q203H Missense 6/14 - 1
1-40431581-A-T c.609A>T p.Q203H Missense 6/14 - 1
1-40431585-G-A c.613G>A p.V205M Missense 6/14 - 1
1-40431585-G-T c.613G>T p.V205L Missense 6/14 - 1
1-40431586-T-A c.614T>A p.V205E Missense 6/14 - 1
1-40431589-G-C c.617G>C p.G206A Missense 6/14 - 1
1-40431590-C-A c.618C>A p.G206= Synonymous 6/14 - 1
1-40431590-C-G c.618C>G p.G206= Synonymous 6/14 - 1
1-40431590-C-T c.618C>T p.G206= Synonymous 6/14 - 1
1-40431594-G-T c.622G>T p.A208S Missense 6/14 - 4
1-40431601-C-T c.629C>T p.T210M Missense 6/14 - 1
1-40431604-C-A c.632C>A p.P211H Missense 6/14 - 1
1-40431604-C-T c.632C>T p.P211L Missense 6/14 - 1
1-40431611-C-T c.639C>T p.F213= Synonymous 6/14 - 1
1-40431612-C-T c.640C>T p.Q214* Nonsense 6/14 - 1
1-40431615-G-T c.643G>T p.D215Y Missense 6/14 - 1
1-40431621-AA-GC c.649_650delinsGC p.N217A Missense 6/14 - 1
1-40431623-T-C c.651T>C p.N217= Synonymous 6/14 - 3
1-40431631-CA-TG c.659_660inv p.T220M Missense 6/14 - 1
1-40431633-G-A c.661G>A p.V221I Missense 6/14 - 1
1-40431645-AGT-TGA c.673_675delinsTGA p.S225* Nonsense 6/14 - 1
1-40431646-G-A c.674G>A p.S225N Missense 6/14 - 1
1-40431649-C-G c.677C>G p.A226G Missense 6/14 - 1
1-40431651-A-G c.679A>G p.N227D Missense 6/14 - 1
1-40431652-A-G c.680A>G p.N227S Missense 6/14 - 1
1-40431658-C-A c.686C>A p.T229K Missense 6/14 - 1
1-40431662-T-A c.690T>A p.H230Q Missense 6/14 - 1
1-40431662-T-G c.690T>G p.H230Q Missense 6/14 - 1
1-40431669-AC-CA c.697_698delinsCA p.T233H Missense 6/14 - 1
1-40431678-A-G c.706A>G p.R236G Missense 6/14 - 1
1-40431684-A-G c.712A>G p.T238A Missense 6/14 - 1
1-40431685-C-T c.713C>T p.T238M Missense 6/14 - 1
1-40431691-G-A c.714+5G>A - IntronicSNV - 6/13 1
1-40431727-A-G c.714+41A>G - IntronicSNV - 6/13 3
1-40432273-C-T c.715C>T p.Q239* Nonsense 7/14 - 1
1-40432280-C-G c.722C>G p.A241G Missense 7/14 - 1
1-40432285-C-T c.727C>T p.L243= Synonymous 7/14 - 1
1-40432288-CTG-TTT c.730_732delinsTTT p.L244F Missense 7/14 - 1
1-40432291-G-A c.733G>A p.A245T Missense 7/14 - 1
1-40432291-G-T c.733G>T p.A245S Missense 7/14 - 1
1-40432300-G-A c.742G>A p.V248I Missense 7/14 - 1
1-40432300-G-T c.742G>T p.V248F Missense 7/14 - 1
1-40432302-C-T c.744C>T p.V248= Synonymous 7/14 - 1
1-40432306-G-T c.748G>T p.V250F Missense 7/14 - 1
1-40432307-T-C c.749T>C p.V250A Missense 7/14 - 1
1-40432309-T-C c.751T>C p.C251R Missense 7/14 - 1
1-40432310-G-C c.752G>C p.C251S Missense 7/14 - 1
1-40432310-G-T c.752G>T p.C251F Missense 7/14 - 1
1-40432324-T-G c.766T>G p.C256G Missense 7/14 - 2
1-40432345-G-A c.787G>A p.G263S Missense 7/14 - 1
1-40432345-G-T c.787G>T p.G263C Missense 7/14 - 1
1-40432347-C-A c.789C>A p.G263= Synonymous 7/14 - 1
1-40432347-C-G c.789C>G p.G263= Synonymous 7/14 - 1
1-40432347-C-T c.789C>T p.G263= Synonymous 7/14 - 1
1-40432355-A-G c.797A>G p.E266G Missense 7/14 - 1
1-40432362-A-T c.804A>T p.R268S Missense 7/14 - 1
1-40432468-C-T c.806-15C>T - IntronicSNV - 7/13 1
1-40432485-C-A c.808C>A p.P270T Missense 8/14 - 1
1-40432492-A-T c.815A>T p.E272V Missense 8/14 - 1
1-40432495-C-G c.818C>G p.A273G Missense 8/14 - 1
1-40432499-G-A c.822G>A p.Q274= Synonymous 8/14 - 1
1-40432502-G-A c.825G>A p.Q275= Synonymous 8/14 - 1
1-40432503-T-C c.826T>C p.S276P Missense 8/14 - 1
1-40432506-G-A c.829G>A p.E277K Missense 8/14 - 1
1-40432509-C-A c.832C>A p.P278T Missense 8/14 - 2
1-40432509-C-T c.832C>T p.P278S Missense 8/14 - 1
1-40432514-C-T c.837C>T p.I279= Synonymous 8/14 - 1
1-40432515-G-A c.838G>A p.A280T Missense 8/14 - 2
1-40432515-G-T c.838G>T p.A280S Missense 8/14 - 1
1-40432523-C-T c.846C>T p.F282= Synonymous 8/14 - 1
1-40432525-G-A c.848G>A p.R283Q Missense 8/14 - 1
1-40432529-C-T c.852C>T p.G284= Synonymous 8/14 - 1
1-40432533-C-T c.856C>T p.R286W Missense 8/14 - 3
1-40432535-G-A c.858G>A p.R286= Synonymous 8/14 - 1
1-40432538-G-A c.861G>A p.L287= Synonymous 8/14 - 1
1-40432542-A-C c.865A>C p.M289L Missense 8/14 - 1
1-40432542-A-T c.865A>T p.M289L Missense 8/14 - 1
1-40432547-C-A c.870C>A p.S290R Missense 8/14 - 1
1-40432547-C-T c.870C>T p.S290= Synonymous 8/14 - 2
1-40432548-C-T c.871C>T p.H291Y Missense 8/14 - 2
1-40432550-C-T c.873C>T p.H291= Synonymous 8/14 - 1
1-40432551-G-A c.874G>A p.G292S Missense 8/14 - 1
1-40432551-G-C c.874G>C p.G292R Missense 8/14 - 1
1-40432551-G-T c.874G>T p.G292C Missense 8/14 - 1
1-40432553-C-T c.876C>T p.G292= Synonymous 8/14 - 3
1-40432558-A-G c.881A>G p.Y294C Missense 8/14 - 1
1-40432566-CTT-TGG c.889_891delinsTGG p.L297W Missense 8/14 - 1
1-40432580-C-T c.903C>T p.F301= Synonymous 8/14 - 1
1-40432588-C-T c.911C>T p.T304I Missense 8/14 - 1
1-40432590-T-A c.913T>A p.S305T Missense 8/14 - 1
1-40432595-G-A c.918G>A p.L306= Synonymous 8/14 - 1
1-40432596-G-A c.919G>A p.A307T Missense 8/14 - 1
1-40432602-A-G c.925A>G p.M309V Missense 8/14 - 1
1-40432763-G-T c.933G>T p.V311= Synonymous 9/14 - 1
1-40432766-G-C c.936G>C p.E312D Missense 9/14 - 1
1-40432766-G-T c.936G>T p.E312D Missense 9/14 - 1
1-40432778-C-T c.948C>T p.V316= Synonymous 9/14 - 1
1-40432785-T-C c.955T>C p.C319R Missense 9/14 - 2
1-40432800-GG-AC c.970_971delinsAC p.G324T Missense 9/14 - 1
1-40432805-C-G c.975C>G p.F325L Missense 9/14 - 1
1-40432807-G-A c.977G>A p.R326H Missense 9/14 - 4
1-40432817-C-T c.987C>T p.F329= Synonymous 9/14 - 1
1-40432819-A-G c.989A>G p.Q330R Missense 9/14 - 2
1-40432820-G-A c.990G>A p.Q330= Synonymous 9/14 - 2
1-40432824-CTA-TTT c.994_996delinsTTT p.L332F Missense 9/14 - 1
1-40432829-C-A c.999C>A p.L333= Synonymous 9/14 - 1
1-40432830-C-T c.1000C>T p.L334= Synonymous 9/14 - 2
1-40432833-G-T c.1003G>T p.A335S Missense 9/14 - 1
1-40432835-C-T c.1005C>T p.A335= Synonymous 9/14 - 2
1-40432838-C-G c.1008C>G p.I336M Missense 9/14 - 1
1-40433304-C-T c.1016C>T p.S339L Missense 10/14 - 4
1-40433308-C-T c.1020C>T p.A340= Synonymous 10/14 - 1
1-40433328-G-A c.1040G>A p.W347* Nonsense 10/14 - 1
1-40433329-G-A c.1041G>A p.W347* Nonsense 10/14 - 1
1-40433329-G-T c.1041G>T p.W347C Missense 10/14 - 1
1-40433334-G-T c.1046G>T p.W349L Missense 10/14 - 1
1-40433339-TT-AG c.1051_1052delinsAG p.L351R Missense 10/14 - 1
1-40433340-T-G c.1052T>G p.L351W Missense 10/14 - 1
1-40433343-C-T c.1055C>T p.T352I Missense 10/14 - 3
1-40433345-C-T c.1057C>T p.R353W Missense 10/14 - 1
1-40433346-G-A c.1058G>A p.R353Q Missense 10/14 - 1
1-40433359-G-A c.1071G>A p.K357= Synonymous 10/14 - 1
1-40433366-G-A c.1078G>A p.V360I Missense 10/14 - 1
1-40433372-G-A c.1084G>A p.V362I Missense 10/14 - 1
1-40433489-T-A c.1109T>A p.F370Y Missense 11/14 - 1
1-40433491-C-T c.1111C>T p.L371F Missense 11/14 - 1
1-40433492-T-A c.1112T>A p.L371H Missense 11/14 - 1
1-40433494-A-C c.1114A>C p.I372L Missense 11/14 - 3
1-40433495-T-C c.1115T>C p.I372T Missense 11/14 - 1
1-40433500-G-A c.1120G>A p.V374M Missense 11/14 - 1
1-40433506-C-G c.1126C>G p.L376V Missense 11/14 - 1
1-40433513-A-G c.1133A>G p.E378G Missense 11/14 - 1
1-40433515-AG-GC c.1135_1136delinsGC p.S379A Missense 11/14 - 1
1-40433518-AA-GT c.1138_1139delinsGT p.N380V Missense 11/14 - 1
1-40433524-A-G c.1144A>G p.I382V Missense 11/14 - 1
1-40433527-A-T c.1147A>T p.I383F Missense 11/14 - 1
1-40433536-G-A c.1156G>A p.A386T Missense 11/14 - 1
1-40433537-C-T c.1157C>T p.A386V Missense 11/14 - 2
1-40433539-GTA-ATG c.1159_1161delinsATG p.V387M Missense 11/14 - 1
1-40433541-A-C c.1161A>C p.V387= Synonymous 11/14 - 1
1-40433541-A-G c.1161A>G p.V387= Synonymous 11/14 - 1
1-40433541-A-T c.1161A>T p.V387= Synonymous 11/14 - 1
1-40433543-C-T c.1163C>T p.A388V Missense 11/14 - 1
1-40433547-G-A c.1167G>A p.V389= Synonymous 11/14 - 1
1-40433547-G-C c.1167G>C p.V389= Synonymous 11/14 - 1
1-40433547-G-T c.1167G>T p.V389= Synonymous 11/14 - 1
1-40433551-G-A c.1171G>A p.A391T Missense 11/14 - 1
1-40433552-C-G c.1172C>G p.A391G Missense 11/14 - 1
1-40433561-G-A c.1181G>A p.S394N Missense 11/14 - 1
1-40433561-G-C c.1181G>C p.S394T Missense 11/14 - 1
1-40433576-T-G c.1196T>G p.F399C Missense 11/14 - 1
1-40433585-C-A c.1205C>A p.P402H Missense 11/14 - 3
1-40433585-C-T c.1205C>T p.P402L Missense 11/14 - 1
1-40433771-A-G c.1208+183A>G - IntronicSNV - 11/13 5
1-40434008-C-G c.1211C>G p.S404C Missense 12/14 - 1
1-40434012-G-A c.1215G>A p.M405I Missense 12/14 - 1
1-40434012-G-C c.1215G>C p.M405I Missense 12/14 - 1
1-40434012-G-T c.1215G>T p.M405I Missense 12/14 - 1
1-40434018-T-A c.1221T>A p.P407= Synonymous 12/14 - 1
1-40434025-A-C c.1228A>C p.I410L Missense 12/14 - 1
1-40434030-C-T c.1233C>T p.D411= Synonymous 12/14 - 1
1-40434031-G-A c.1234G>A p.D412N Missense 12/14 - 2
1-40434034-T-C c.1237T>C p.F413L Missense 12/14 - 1
1-40434037-C-T c.1240C>T p.H414Y Missense 12/14 - 2
1-40434051-C-T c.1254C>T p.P418= Synonymous 12/14 - 1
1-40434053-A-G c.1256A>G p.H419R Missense 12/14 - 1
1-40434066-C-A c.1269C>A p.T423= Synonymous 12/14 - 1
1-40434066-C-T c.1269C>T p.T423= Synonymous 12/14 - 1
1-40434067-GA-AG c.1270_1271delinsAG p.E424R Missense 12/14 - 1
1-40434077-T-G c.1280T>G p.F427C Missense 12/14 - 1
1-40434081-C-T c.1284C>T p.F428= Synonymous 12/14 - 1
1-40434103-AA-GC c.1306_1307delinsGC p.K436A Missense 12/14 - 1
1-40434104-A-G c.1307A>G p.K436R Missense 12/14 - 1
1-40434123-A-C c.1326A>C p.S442= Synonymous 12/14 - 1
1-40434123-A-G c.1326A>G p.S442= Synonymous 12/14 - 1
1-40434123-A-T c.1326A>T p.S442= Synonymous 12/14 - 1
1-40434134-C-G c.1337C>G p.S446C Missense 12/14 - 1
1-40434248-G-A c.1360G>A p.G454R Missense 13/14 - 1
1-40434261-G-A c.1373G>A p.R458H Missense 13/14 - 1
1-40434269-T-A c.1381T>A p.S461T Missense 13/14 - 1
1-40434270-C-T c.1382C>T p.S461L Missense 13/14 - 1
1-40434271-GCAGCCGGAACGTGTCAAGTTTACACTGAACATGCTCGTGACCATGGCTCC-G c.1386_1435del p.Q462Hfs*17 Frameshift 13/14 - 1
1-40434275-C-G c.1387C>G p.P463A Missense 13/14 - 1
1-40434276-C-T c.1388C>T p.P463L Missense 13/14 - 3
1-40434278-G-C c.1390G>C p.E464Q Missense 13/14 - 1
1-40434281-C-A c.1393C>A p.R465S Missense 13/14 - 3
1-40434281-C-T c.1393C>T p.R465C Missense 13/14 - 2
1-40434282-G-A c.1394G>A p.R465H Missense 13/14 - 1
1-40434288-A-G c.1400A>G p.K467R Missense 13/14 - 1
1-40434289-G-A c.1401G>A p.K467= Synonymous 13/14 - 1
1-40434289-G-C c.1401G>C p.K467N Missense 13/14 - 1
1-40434289-G-T c.1401G>T p.K467N Missense 13/14 - 3
1-40434298-G-A c.1410G>A p.L470= Synonymous 13/14 - 1
1-40434300-AACATGCTCGTGACCATGG-A c.1412_1429del p.N471_A477delinsT MultiAAMissense 13/14 - 1
1-40434308-GTG-ATC c.1420_1422delinsATC p.V474I Missense 13/14 - 1
1-40434317-G-A c.1429G>A p.A477T Missense 13/14 - 1
1-40434318-C-T c.1430C>T p.A477V Missense 13/14 - 1
1-40434325-A-G c.1437A>G p.I479M Missense 13/14 - 1
1-40434335-C-T c.1447C>T p.L483= Synonymous 13/14 - 1
1-40434337-G-A c.1449G>A p.L483= Synonymous 13/14 - 1
1-40434337-G-C c.1449G>C p.L483= Synonymous 13/14 - 1
1-40434337-G-T c.1449G>T p.L483= Synonymous 13/14 - 1
1-40434357-A-C c.1469A>C p.K490T Missense 13/14 - 1
1-40434357-A-G c.1469A>G p.K490R Missense 13/14 - 1
1-40434358-A-G c.1470A>G p.K490= Synonymous 13/14 - 1
1-40434366-C-T c.1478C>T p.P493L Missense 13/14 - 1
1-40434371-GA-CG c.1483_1484delinsCG p.D495R Missense 13/14 - 1
1-40434374-GA-AG c.1486_1487delinsAG p.E496R Missense 13/14 - 1
1-40434377-GA-AG c.1489_1490delinsAG p.E497R Missense 13/14 - 1
1-40434380-AG-GA c.1492_1493delinsGA p.R498E Missense 13/14 - 1
1-40434383-CG-GA c.1495_1496delinsGA p.R499E Missense 13/14 - 1
1-40434383-C-T c.1495C>T p.R499W Missense 13/14 - 1
1-40434386-C-A c.1498C>A p.R500= Synonymous 13/14 - 1
1-40434386-CG-GA c.1498_1499delinsGA p.R500E Missense 13/14 - 1
1-40434386-C-T c.1498C>T p.R500W Missense 13/14 - 1
1-40434387-G-A c.1499G>A p.R500Q Missense 13/14 - 2
1-40434387-GG-AT c.1499_1500delinsAT p.R500H Missense 13/14 - 1
1-40434387-G-T c.1499G>T p.R500L Missense 13/14 - 1
1-40434389-C-T c.1501C>T p.Q501* Nonsense 13/14 - 2
1-40434395-A-G c.1507A>G p.K503E Missense 13/14 - 1
1-40434396-A-C c.1508A>C p.K503T Missense 13/14 - 1
1-40434397-G-A c.1509G>A p.K503= Synonymous 13/14 - 1
1-40434398-A-C c.1510A>C p.K504Q Missense 13/14 - 1
1-40434398-A-G c.1510A>G p.K504E Missense 13/14 - 1
1-40434401-G-C c.1513G>C p.A505P Missense 13/14 - 1
1-40434401-G-T c.1513G>T p.A505S Missense 13/14 - 1
1-40434403-C-A c.1515C>A p.A505= Synonymous 13/14 - 1
1-40434404-C-T c.1516C>T p.L506= Synonymous 13/14 - 4
1-40434413-C-T c.1525C>T p.L509= Synonymous 13/14 - 1
1-40434415-G-A c.1527G>A p.L509= Synonymous 13/14 - 1
1-40434415-G-C c.1527G>C p.L509= Synonymous 13/14 - 1
1-40434415-G-T c.1527G>T p.L509= Synonymous 13/14 - 1
1-40434417-G-A c.1529G>A p.R510K Missense 13/14 - 2
1-40434417-G-GA c.1529_1529+1insA p.D511Gfs*18 SpliceDonorInsertion - - 1
1-40434417-G-T c.1529G>T p.R510M Missense 13/14 - 2
1-40435157-A-G c.1530-20A>G - IntronicSNV - 13/13 2
1-40435180-C-T c.1533C>T p.D511= Synonymous 14/14 - 2
1-40435181-G-A c.1534G>A p.E512K Missense 14/14 - 1
1-40435181-G-T c.1534G>T p.E512* Nonsense 14/14 - 1
1-40435183-G-GC c.1536_1537insC p.A513Rfs*16 Frameshift 14/14 - 1
1-40435189-C-A c.1542C>A p.S514R Missense 14/14 - 1
1-40435191-G-C c.1544G>C p.S515T Missense 14/14 - 1
1-40435199-T-C c.1552T>C p.C518R Missense 14/14 - 1
1-40435200-G-A c.1553G>A p.C518Y Missense 14/14 - 2
1-40435201-C-A c.1554C>A p.C518* Nonsense 14/14 - 1
1-40435205-G-A c.1558G>A p.E520K Missense 14/14 - 2
1-40435207-A-C c.1560A>C p.E520D Missense 14/14 - 1
1-40435210-A-G c.1563A>G p.T521= Synonymous 14/14 - 1
1-40435216-C-A c.1569C>A p.S523= Synonymous 14/14 - 1
1-40435220-G-A c.1573G>A p.E525K Missense 14/14 - 3
1-40435222-G-C c.1575G>C p.E525D Missense 14/14 - 2
1-40435230-G-C c.1583G>C p.S528T Missense 14/14 - 1
1-40435232-A-G c.1585A>G p.I529V Missense 14/14 - 1
1-40435515-T-C c.*275T>C - 3-UTRSNV 14/14 - 1