GPD2

GPD2 glycerol-3-phosphate dehydrogenase 2

Annotation transcript: NM_000408.5

703 unique variant annotations were identified in 373 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
2-157293072-G-A c.-9+47G>A - intron_variant - 1/16 1
2-157293072-G-C c.-9+47G>C - intron_variant - 1/16 1
2-157293072-G-T c.-9+47G>T - intron_variant - 1/16 1
2-157298587-G-T c.-9+5562G>T - intron_variant - 1/16 1
2-157299945-C-T c.-9+6920C>T - intron_variant - 1/16 1
2-157300601-T-C c.-9+7576T>C - intron_variant - 1/16 1
2-157300622-G-A c.-9+7597G>A - intron_variant - 1/16 1
2-157306688-A-G c.-9+13663A>G - intron_variant - 1/16 3
2-157308659-T-G c.-9+15634T>G - intron_variant - 1/16 1
2-157308757-T-G c.-9+15732T>G - intron_variant - 1/16 1
2-157331923-C-A c.-8-687C>A - IntronicSNV - 1/16 1
2-157331923-C-G c.-8-687C>G - IntronicSNV - 1/16 1
2-157332621-G-A c.4G>A p.A2T Missense 2/17 - 1
2-157332628-A-C c.11A>C p.Q4P Missense 2/17 - 1
2-157332633-G-T c.16G>T p.A6S Missense 2/17 - 1
2-157332636-G-T c.19G>T p.V7L Missense 2/17 - 1
2-157332638-G-A c.21G>A p.V7= Synonymous 2/17 - 1
2-157332638-G-C c.21G>C p.V7= Synonymous 2/17 - 1
2-157332638-G-T c.21G>T p.V7= Synonymous 2/17 - 2
2-157332640-A-G c.23A>G p.K8R Missense 2/17 - 1
2-157332641-A-C c.24A>C p.K8N Missense 2/17 - 1
2-157332646-C-T c.29C>T p.T10M Missense 2/17 - 2
2-157332647-G-A c.30G>A p.T10= Synonymous 2/17 - 3
2-157332647-G-C c.30G>C p.T10= Synonymous 2/17 - 2
2-157332647-G-T c.30G>T p.T10= Synonymous 2/17 - 3
2-157332654-G-C c.37G>C p.V13L Missense 2/17 - 1
2-157332658-G-T c.41G>T p.G14V Missense 2/17 - 1
2-157332663-G-T c.46G>T p.G16C Missense 2/17 - 2
2-157332666-GCT-ATG c.49_51delinsATG p.A17M Missense 2/17 - 1
2-157332666-GCT-CAA c.49_51delinsCAA p.A17Q Missense 2/17 - 1
2-157332672-G-A c.55G>A p.A19T Missense 2/17 - 1
2-157332690-T-C c.73T>C p.S25P Missense 2/17 - 1
2-157332693-C-G c.76C>G p.Q26E Missense 2/17 - 1
2-157332694-A-G c.77A>G p.Q26R Missense 2/17 - 2
2-157332703-A-G c.86A>G p.H29R Missense 2/17 - 1
2-157332705-T-C c.88T>C p.Y30H Missense 2/17 - 1
2-157332712-G-A c.95G>A p.R32K Missense 2/17 - 1
2-157332714-AA-GC c.97_98delinsGC p.K33A Missense 2/17 - 1
2-157339633-CA-C c.102+6924del - IntronicDeletion - 2/16 1
2-157341075-G-C c.102+8356G>C - IntronicSNV - 2/16 1
2-157349937-C-T c.103-2619C>T - IntronicSNV - 2/16 1
2-157352418-A-G c.103-138A>G - IntronicSNV - 2/16 2
2-157352418-A-T c.103-138A>T - IntronicSNV - 2/16 2
2-157352556-A-G c.103A>G p.M35V Missense 3/17 - 1
2-157352558-G-A c.105G>A p.M35I Missense 3/17 - 2
2-157352560-A-G c.107A>G p.N36S Missense 3/17 - 1
2-157352564-G-A c.111G>A p.L37= Synonymous 3/17 - 1
2-157352567-C-A c.114C>A p.A38= Synonymous 3/17 - 1
2-157352567-C-G c.114C>G p.A38= Synonymous 3/17 - 1
2-157352567-C-T c.114C>T p.A38= Synonymous 3/17 - 2
2-157352568-T-C c.115T>C p.Y39H Missense 3/17 - 1
2-157352569-A-G c.116A>G p.Y39C Missense 3/17 - 1
2-157352571-G-A c.118G>A p.V40I Missense 3/17 - 2
2-157352575-A-C c.122A>C p.K41T Missense 3/17 - 1
2-157352577-GCA-TAT c.124_126delinsTAT p.A42Y Missense 3/17 - 2
2-157352578-C-A c.125C>A p.A42E Missense 3/17 - 1
2-157352583-G-A c.130G>A p.D44N Missense 3/17 - 1
2-157352592-TC-GG c.139_140delinsGG p.S47G Missense 3/17 - 1
2-157352593-C-T c.140C>T p.S47L Missense 3/17 - 1
2-157352598-C-A c.145C>A p.P49T Missense 3/17 - 1
2-157352606-C-T c.153C>T p.N51= Synonymous 3/17 - 1
2-157352613-C-T c.160C>T p.P54S Missense 3/17 - 1
2-157352614-C-T c.161C>T p.P54L Missense 3/17 - 1
2-157352615-T-A c.162T>A p.P54= Synonymous 3/17 - 1
2-157352615-T-C c.162T>C p.P54= Synonymous 3/17 - 1
2-157352615-T-G c.162T>G p.P54= Synonymous 3/17 - 2
2-157352618-T-C c.165T>C p.P55= Synonymous 3/17 - 1
2-157352625-G-T c.172G>T p.E58* Nonsense 3/17 - 1
2-157352629-C-A c.176C>A p.A59D Missense 3/17 - 1
2-157352629-C-T c.176C>T p.A59V Missense 3/17 - 1
2-157352633-G-C c.180G>C p.Q60H Missense 3/17 - 1
2-157352633-G-T c.180G>T p.Q60H Missense 3/17 - 1
2-157352641-C-T c.188C>T p.T63I Missense 3/17 - 1
2-157352653-CA-TG c.200_201inv p.T67M Missense 3/17 - 1
2-157352656-C-G c.203C>G p.S68C Missense 3/17 - 1
2-157352664-G-T c.211G>T p.D71Y Missense 3/17 - 3
2-157352665-A-C c.212A>C p.D71A Missense 3/17 - 3
2-157352665-A-G c.212A>G p.D71G Missense 3/17 - 1
2-157352676-A-G c.223A>G p.I75V Missense 3/17 - 5
2-157352677-T-C c.224T>C p.I75T Missense 3/17 - 1
2-157352680-G-T c.227G>T p.G76V Missense 3/17 - 1
2-157352682-G-T c.229G>T p.G77* Nonsense 3/17 - 1
2-157352686-G-A c.233G>A p.G78E Missense 3/17 - 1
2-157352692-C-G c.239C>G p.T80R Missense 3/17 - 1
2-157352693-A-T c.240A>T p.T80= Synonymous 3/17 - 1
2-157352697-A-G c.244A>G p.S82G Missense 3/17 - 1
2-157352707-C-T c.254C>T p.A85V Missense 3/17 - 1
2-157352710-T-C c.257T>C p.L86P Missense 3/17 - 1
2-157352712-G-A c.259G>A p.D87N Missense 3/17 - 2
2-157352714-T-A c.261T>A p.D87E Missense 3/17 - 1
2-157352715-G-A c.262G>A p.A88T Missense 3/17 - 2
2-157352716-C-G c.263C>G p.A88G Missense 3/17 - 1
2-157352726-A-C c.273A>C p.R91S Missense 3/17 - 1
2-157352726-A-T c.273A>T p.R91S Missense 3/17 - 1
2-157352734-C-CT c.274+19dup - IntronicInsertion - 3/16 1
2-157352734-CT-C c.274+19del - IntronicDeletion - 3/16 3
2-157352805-AGT-A c.274+84_274+85del - IntronicDeletion - 3/16 1
2-157356120-A-T c.274+3393A>T - IntronicSNV - 3/16 1
2-157356119-TA-T c.274+3399del - IntronicDeletion - 3/16 1
2-157357011-A-G c.274+4284A>G - IntronicSNV - 3/16 1
2-157357107-G-C c.274+4380G>C - IntronicSNV - 3/16 1
2-157358052-A-G c.274+5325A>G - IntronicSNV - 3/16 1
2-157358176-C-T c.274+5449C>T - IntronicSNV - 3/16 1
2-157358750-T-A c.274+6023T>A - IntronicSNV - 3/16 1
2-157363743-T-C c.275-3565T>C - IntronicSNV - 3/16 2
2-157363743-T-G c.275-3565T>G - IntronicSNV - 3/16 2
2-157367291-G-T c.275-17G>T - IntronicSNV - 3/16 1
2-157367310-C-T c.277C>T p.L93= Synonymous 4/17 - 1
2-157367312-A-C c.279A>C p.L93= Synonymous 4/17 - 1
2-157367312-A-G c.279A>G p.L93= Synonymous 4/17 - 2
2-157367312-A-T c.279A>T p.L93= Synonymous 4/17 - 1
2-157367320-C-T c.287C>T p.A96V Missense 4/17 - 1
2-157367331-A-G c.298A>G p.R100G Missense 4/17 - 2
2-157367331-AG-GA c.298_299delinsGA p.R100E Missense 4/17 - 1
2-157367332-G-A c.299G>A p.R100K Missense 4/17 - 1
2-157367332-G-T c.299G>T p.R100I Missense 4/17 - 4
2-157367335-A-G c.302A>G p.D101G Missense 4/17 - 4
2-157367337-G-T c.304G>T p.D102Y Missense 4/17 - 5
2-157367339-T-C c.306T>C p.D102= Synonymous 4/17 - 1
2-157367344-C-T c.311C>T p.S104L Missense 4/17 - 1
2-157367346-TCA-AAC c.313_315delinsAAC p.S105N Missense 4/17 - 1
2-157367347-C-T c.314C>T p.S105L Missense 4/17 - 1
2-157367350-G-A c.317G>A p.G106E Missense 4/17 - 1
2-157367352-A-C c.319A>C p.T107P Missense 4/17 - 1
2-157367352-A-G c.319A>G p.T107A Missense 4/17 - 1
2-157367355-A-C c.322A>C p.S108R Missense 4/17 - 1
2-157367357-C-A c.324C>A p.S108R Missense 4/17 - 1
2-157367357-C-G c.324C>G p.S108R Missense 4/17 - 1
2-157367360-C-T c.327C>T p.S109= Synonymous 4/17 - 1
2-157367373-T-C c.340T>C p.L114= Synonymous 4/17 - 1
2-157367378-C-G c.345C>G p.I115M Missense 4/17 - 1
2-157367381-T-C c.348T>C p.H116= Synonymous 4/17 - 1
2-157367383-G-A c.350G>A p.G117D Missense 4/17 - 2
2-157367391-AG-CA c.358_359delinsCA p.R120Q Missense 4/17 - 1
2-157367401-A-C c.368A>C p.Q123P Missense 4/17 - 1
2-157367403-A-C c.370A>C p.K124Q Missense 4/17 - 1
2-157367405-G-C c.372G>C p.K124N Missense 4/17 - 1
2-157367405-G-T c.372G>T p.K124N Missense 4/17 - 1
2-157367410-T-C c.377T>C p.I126T Missense 4/17 - 1
2-157367411-C-A c.378C>A p.I126= Synonymous 4/17 - 1
2-157367411-C-T c.378C>T p.I126= Synonymous 4/17 - 2
2-157367417-G-T c.384G>T p.K128N Missense 4/17 - 1
2-157367421-G-A c.388G>A p.D130N Missense 4/17 - 1
2-157367427-G-T c.394G>T p.E132* Nonsense 4/17 - 1
2-157367431-A-G c.398A>G p.Q133R Missense 4/17 - 1
2-157367432-G-C c.399G>C p.Q133H Missense 4/17 - 1
2-157367432-G-T c.399G>T p.Q133H Missense 4/17 - 1
2-157367494-A-G c.399+62A>G - IntronicSNV - 4/16 1
2-157367499-GT-G c.399+76del - IntronicDeletion - 4/16 1
2-157368459-C-A c.400-273C>A - IntronicSNV - 4/16 1
2-157368751-C-G c.419C>G p.A140G Missense 5/17 - 1
2-157368754-T-A c.422T>A p.L141H Missense 5/17 - 1
2-157368758-T-C c.426T>C p.H142= Synonymous 5/17 - 1
2-157368762-C-T c.430C>T p.R144C Missense 5/17 - 1
2-157368763-G-A c.431G>A p.R144H Missense 5/17 - 1
2-157368765-G-C c.433G>C p.A145P Missense 5/17 - 1
2-157368768-A-G c.436A>G p.N146D Missense 5/17 - 1
2-157368769-A-G c.437A>G p.N146S Missense 5/17 - 1
2-157368784-C-G c.452C>G p.A151G Missense 5/17 - 1
2-157368786-C-CAA c.454_455insAA p.P152Qfs*10 Frameshift 5/17 - 1
2-157368798-G-T c.466G>T p.A156S Missense 5/17 - 1
2-157368807-C-T c.475C>T p.P159S Missense 5/17 - 2
2-157368811-T-A c.479T>A p.I160K Missense 5/17 - 1
2-157368817-T-G c.485T>G p.L162R Missense 5/17 - 1
2-157368817-TT-AA c.485_486inv p.L162Q Missense 5/17 - 1
2-157368826-A-G c.494A>G p.Y165C Missense 5/17 - 1
2-157369845-G-C c.498G>C p.K166N Missense 6/17 - 1
2-157369845-G-T c.498G>T p.K166N Missense 6/17 - 1
2-157369850-G-A c.503G>A p.W168* Nonsense 6/17 - 1
2-157369851-G-A c.504G>A p.W168* Nonsense 6/17 - 1
2-157369851-G-C c.504G>C p.W168C Missense 6/17 - 1
2-157369851-G-T c.504G>T p.W168C Missense 6/17 - 1
2-157369852-C-T c.505C>T p.Q169* Nonsense 6/17 - 1
2-157369855-T-G c.508T>G p.L170V Missense 6/17 - 1
2-157369864-T-C c.517T>C p.Y173H Missense 6/17 - 1
2-157369873-GG-AC c.526_527delinsAC p.G176T Missense 6/17 - 1
2-157369881-G-C c.534G>C p.K178N Missense 6/17 - 4
2-157369881-G-T c.534G>T p.K178N Missense 6/17 - 3
2-157369883-T-C c.536T>C p.L179P Missense 6/17 - 1
2-157369889-A-G c.542A>G p.D181G Missense 6/17 - 1
2-157369893-G-C c.546G>C p.L182F Missense 6/17 - 1
2-157369894-G-C c.547G>C p.V183L Missense 6/17 - 1
2-157369895-T-C c.548T>C p.V183A Missense 6/17 - 1
2-157369897-G-T c.550G>T p.A184S Missense 6/17 - 1
2-157369898-C-T c.551C>T p.A184V Missense 6/17 - 1
2-157369900-G-A c.553G>A p.G185R Missense 6/17 - 1
2-157369903-A-G c.556A>G p.S186G Missense 6/17 - 1
2-157369910-G-T c.563G>T p.C188F Missense 6/17 - 1
2-157369912-C-T c.565C>T p.L189= Synonymous 6/17 - 1
2-157369920-C-T c.573C>T p.S191= Synonymous 6/17 - 1
2-157369921-A-G c.574A>G p.S192G Missense 6/17 - 1
2-157369922-G-C c.575G>C p.S192T Missense 6/17 - 1
2-157369928-T-A c.581T>A p.V194D Missense 6/17 - 1
2-157369940-C-T c.593C>T p.S198L Missense 6/17 - 2
2-157369942-AGA-CAT c.595_597delinsCAT p.R199H Missense 6/17 - 1
2-157369953-A-C c.606A>C p.E202D Missense 6/17 - 1
2-157369953-A-T c.606A>T p.E202D Missense 6/17 - 1
2-157369955-AT-A c.611del p.F204Sfs*10 Frameshift 6/17 - 3
2-157369959-C-A c.612C>A p.F204L Missense 6/17 - 1
2-157369961-C-T c.614C>T p.P205L Missense 6/17 - 7
2-157369971-G-A c.624G>A p.Q208= Synonymous 6/17 - 1
2-157369971-G-T c.624G>T p.Q208H Missense 6/17 - 1
2-157369974-G-A c.627G>A p.K209= Synonymous 6/17 - 2
2-157369981-C-T c.634C>T p.L212= Synonymous 6/17 - 1
2-157369983-G-A c.636G>A p.L212= Synonymous 6/17 - 1
2-157369983-G-C c.636G>C p.L212= Synonymous 6/17 - 1
2-157369983-G-T c.636G>T p.L212= Synonymous 6/17 - 1
2-157369984-G-C c.637G>C p.V213L Missense 6/17 - 1
2-157369984-G-T c.637G>T p.V213L Missense 6/17 - 1
2-157370000-A-G c.653A>G p.Y218C Missense 6/17 - 1
2-157370003-A-T c.656A>T p.Y219F Missense 6/17 - 1
2-157370004-T-A c.657T>A p.Y219* Nonsense 6/17 - 1
2-157370004-T-G c.657T>G p.Y219* Nonsense 6/17 - 1
2-157370009-G-A c.661+1G>A - IntronicSNV - 6/16 1
2-157370018-G-T c.661+10G>T - IntronicSNV - 6/16 1
2-157370018-GTTT-G c.661+22_661+24del - IntronicDeletion - 6/16 1
2-157370018-GTT-G c.661+23_661+24del - IntronicDeletion - 6/16 1
2-157370018-GT-G c.661+24del - IntronicDeletion - 6/16 2
2-157373612-G-T c.661+3604G>T - IntronicSNV - 6/16 1
2-157374666-T-C c.661+4658T>C - IntronicSNV - 6/16 1
2-157374696-C-G c.661+4688C>G - IntronicSNV - 6/16 1
2-157374766-C-T c.661+4758C>T - IntronicSNV - 6/16 1
2-157374803-A-G c.661+4795A>G - IntronicSNV - 6/16 1
2-157374810-C-G c.661+4802C>G - IntronicSNV - 6/16 1
2-157374896-C-T c.661+4888C>T - IntronicSNV - 6/16 1
2-157374903-G-A c.661+4895G>A - IntronicSNV - 6/16 1
2-157374924-T-G c.661+4916T>G - IntronicSNV - 6/16 1
2-157375324-A-G c.661+5316A>G - IntronicSNV - 6/16 1
2-157381754-A-G c.661+11746A>G - IntronicSNV - 6/16 1
2-157382446-A-T c.661+12438A>T - IntronicSNV - 6/16 1
2-157383005-T-G c.661+12997T>G - IntronicSNV - 6/16 1
2-157391974-A-G c.662-14146A>G - IntronicSNV - 6/16 1
2-157393274-C-A c.662-12846C>A - IntronicSNV - 6/16 1
2-157403637-G-A c.662-2483G>A - IntronicSNV - 6/16 1
2-157405721-A-G c.662-399A>G - IntronicSNV - 6/16 1
2-157406125-C-A c.667C>A p.H223N Missense 7/17 - 1
2-157406131-G-A c.673G>A p.D225N Missense 7/17 - 1
2-157406135-C-T c.677C>T p.A226V Missense 7/17 - 1
2-157406137-C-A c.679C>A p.R227= Synonymous 7/17 - 1
2-157406137-C-T c.679C>T p.R227W Missense 7/17 - 3
2-157406139-G-A c.681G>A p.R227= Synonymous 7/17 - 1
2-157406139-G-C c.681G>C p.R227= Synonymous 7/17 - 1
2-157406139-G-T c.681G>T p.R227= Synonymous 7/17 - 1
2-157406138-G-A c.680G>A p.R227Q Missense 7/17 - 2
2-157406138-G-T c.680G>T p.R227L Missense 7/17 - 1
2-157406143-A-C c.685A>C p.N229H Missense 7/17 - 1
2-157406144-A-G c.686A>G p.N229S Missense 7/17 - 1
2-157406154-T-A c.696T>A p.I232= Synonymous 7/17 - 1
2-157406154-T-C c.696T>C p.I232= Synonymous 7/17 - 1
2-157406155-G-T c.697G>T p.A233S Missense 7/17 - 1
2-157406158-C-G c.700C>G p.L234V Missense 7/17 - 1
2-157406167-G-A c.709G>A p.A237T Missense 7/17 - 1
2-157406167-G-T c.709G>T p.A237S Missense 7/17 - 1
2-157406172-G-A c.714G>A p.R238= Synonymous 7/17 - 1
2-157406182-G-A c.724G>A p.A242T Missense 7/17 - 1
2-157406183-C-T c.725C>T p.A242V Missense 7/17 - 1
2-157406193-T-A c.735T>A p.N245K Missense 7/17 - 1
2-157406194-T-C c.736T>C p.Y246H Missense 7/17 - 1
2-157406196-C-A c.738C>A p.Y246* Nonsense 7/17 - 2
2-157406196-C-G c.738C>G p.Y246* Nonsense 7/17 - 2
2-157406197-A-G c.739A>G p.M247V Missense 7/17 - 1
2-157406203-G-C c.745G>C p.V249L Missense 7/17 - 1
2-157406203-G-T c.745G>T p.V249L Missense 7/17 - 1
2-157406203-GTA-ATG c.745_747delinsATG p.V249M Missense 7/17 - 1
2-157406207-T-C c.749T>C p.V250A Missense 7/17 - 1
2-157406210-G-A c.752G>A p.S251N Missense 7/17 - 2
2-157406224-A-G c.766A>G p.T256A Missense 7/17 - 1
2-157406237-C-T c.779C>T p.T260I Missense 7/17 - 1
2-157406240-G-C c.782G>C p.G261A Missense 7/17 - 1
2-157406241-G-A c.783G>A p.G261= Synonymous 7/17 - 2
2-157406241-G-C c.783G>C p.G261= Synonymous 7/17 - 1
2-157406241-G-T c.783G>T p.G261= Synonymous 7/17 - 1
2-157406245-GTG-TTT c.787_789delinsTTT p.V263F Missense 7/17 - 1
2-157406248-C-T c.790C>T p.R264C Missense 7/17 - 1
2-157406249-G-A c.791G>A p.R264H Missense 7/17 - 48
2-157406250-T-A c.792T>A p.R264= Synonymous 7/17 - 2
2-157406250-T-C c.792T>C p.R264= Synonymous 7/17 - 2
2-157406250-T-G c.792T>G p.R264= Synonymous 7/17 - 2
2-157406251-G-C c.793G>C p.V265L Missense 7/17 - 3
2-157406251-G-T c.793G>T p.V265L Missense 7/17 - 3
2-157406256-C-T c.798C>T p.S266= Synonymous 7/17 - 1
2-157406260-G-A c.802G>A p.A268T Missense 7/17 - 2
2-157406262-A-T c.804A>T p.A268= Synonymous 7/17 - 1
2-157406264-G-A c.806G>A p.R269Q Missense 7/17 - 2
2-157406273-A-C c.815A>C p.D272A Missense 7/17 - 1
2-157406278-C-T c.820C>T p.L274F Missense 7/17 - 1
2-157406289-G-A c.826+5G>A - IntronicSNV - 7/16 1
2-157406296-A-C c.826+12A>C - IntronicSNV - 7/16 7
2-157407114-G-T c.827G>T p.G276V Missense 8/17 - 1
2-157407115-G-A c.828G>A p.G276= Synonymous 8/17 - 2
2-157407115-G-C c.828G>C p.G276= Synonymous 8/17 - 1
2-157407115-G-T c.828G>T p.G276= Synonymous 8/17 - 1
2-157407119-G-A c.832G>A p.E278K Missense 8/17 - 2
2-157407125-G-C c.838G>C p.D280H Missense 8/17 - 1
2-157407127-C-T c.840C>T p.D280= Synonymous 8/17 - 2
2-157407128-G-A c.841G>A p.V281M Missense 8/17 - 2
2-157407142-T-C c.855T>C p.C285= Synonymous 8/17 - 2
2-157407147-T-C c.860T>C p.I287T Missense 8/17 - 2
2-157407156-CG-TC c.869_870delinsTC p.T290I Missense 8/17 - 1
2-157407156-C-T c.869C>T p.T290M Missense 8/17 - 4
2-157407158-G-A c.871G>A p.G291R Missense 8/17 - 1
2-157407158-G-C c.871G>C p.G291R Missense 8/17 - 1
2-157407159-G-A c.872G>A p.G291E Missense 8/17 - 1
2-157407162-C-T c.875C>T p.P292L Missense 8/17 - 1
2-157407166-C-T c.879C>T p.F293= Synonymous 8/17 - 1
2-157407168-C-T c.881C>T p.T294M Missense 8/17 - 3
2-157407170-G-A c.883G>A p.D295N Missense 8/17 - 1
2-157407174-C-A c.887C>A p.S296Y Missense 8/17 - 2
2-157407174-C-T c.887C>T p.S296F Missense 8/17 - 3
2-157407178-G-A c.891G>A p.V297= Synonymous 8/17 - 1
2-157407178-G-C c.891G>C p.V297= Synonymous 8/17 - 1
2-157407178-G-T c.891G>T p.V297= Synonymous 8/17 - 1
2-157407179-C-T c.892C>T p.R298C Missense 8/17 - 1
2-157407180-G-A c.893G>A p.R298H Missense 8/17 - 1
2-157407191-G-A c.904G>A p.D302N Missense 8/17 - 1
2-157407194-A-T c.907A>T p.K303* Nonsense 8/17 - 5
2-157407199-C-A c.912C>A p.D304E Missense 8/17 - 1
2-157407199-C-G c.912C>G p.D304E Missense 8/17 - 1
2-157407200-G-A c.913G>A p.A305T Missense 8/17 - 1
2-157407202-A-C c.915A>C p.A305= Synonymous 8/17 - 1
2-157407202-A-G c.915A>G p.A305= Synonymous 8/17 - 1
2-157407203-G-T c.916G>T p.A306S Missense 8/17 - 3
2-157407209-A-G c.922A>G p.I308V Missense 8/17 - 7
2-157407213-G-A c.926G>A p.C309Y Missense 8/17 - 1
2-157407218-C-A c.931C>A p.P311T Missense 8/17 - 1
2-157407220-A-C c.933A>C p.P311= Synonymous 8/17 - 1
2-157407220-A-G c.933A>G p.P311= Synonymous 8/17 - 1
2-157407220-A-T c.933A>T p.P311= Synonymous 8/17 - 1
2-157407221-A-G c.934A>G p.S312G Missense 8/17 - 9
2-157407222-G-A c.935G>A p.S312N Missense 8/17 - 1
2-157407224-G-T c.937G>T p.A313S Missense 8/17 - 1
2-157407227-G-A c.940G>A p.G314S Missense 8/17 - 1
2-157407246-C-A c.959C>A p.P320H Missense 8/17 - 2
2-157407249-G-A c.962G>A p.G321D Missense 8/17 - 1
2-157407250-T-A c.963T>A p.G321= Synonymous 8/17 - 1
2-157407250-T-C c.963T>C p.G321= Synonymous 8/17 - 1
2-157407250-T-G c.963T>G p.G321= Synonymous 8/17 - 1
2-157407256-C-G c.969C>G p.Y323* Nonsense 8/17 - 1
2-157407264-T-G c.971+6T>G - IntronicSNV - 8/16 2
2-157407290-CA-C c.971+38del - IntronicDeletion - 8/16 1
2-157410998-C-A c.972-2903C>A - IntronicSNV - 8/16 1
2-157410998-C-T c.972-2903C>T - IntronicSNV - 8/16 1
2-157413098-C-A c.972-803C>A - IntronicSNV - 8/16 1
2-157413098-C-G c.972-803C>G - IntronicSNV - 8/16 1
2-157413098-C-T c.972-803C>T - IntronicSNV - 8/16 1
2-157413905-G-C c.976G>C p.E326Q Missense 9/17 - 3
2-157413914-G-A c.985G>A p.G329R Missense 9/17 - 1
2-157413915-G-C c.986G>C p.G329A Missense 9/17 - 1
2-157413917-C-A c.988C>A p.L330I Missense 9/17 - 1
2-157413926-C-A c.997C>A p.P333T Missense 9/17 - 1
2-157413926-C-T c.997C>T p.P333S Missense 9/17 - 2
2-157413930-C-G c.1001C>G p.A334G Missense 9/17 - 1
2-157413934-C-A c.1005C>A p.T335= Synonymous 9/17 - 1
2-157413934-C-G c.1005C>G p.T335= Synonymous 9/17 - 1
2-157413934-C-T c.1005C>T p.T335= Synonymous 9/17 - 1
2-157413936-G-T c.1007G>T p.S336I Missense 9/17 - 1
2-157413945-G-A c.1016G>A p.R339Q Missense 9/17 - 2
2-157413964-C-G c.1035C>G p.P345= Synonymous 9/17 - 1
2-157413971-A-T c.1042A>T p.K348* Nonsense 9/17 - 1
2-157413978-C-T c.1049C>T p.T350M Missense 9/17 - 3
2-157413985-T-C c.1056T>C p.A352= Synonymous 9/17 - 1
2-157413986-G-T c.1057G>T p.G353C Missense 9/17 - 1
2-157413987-G-T c.1058G>T p.G353V Missense 9/17 - 1
2-157413995-G-C c.1066G>C p.D356H Missense 9/17 - 2
2-157413999-C-T c.1070C>T p.T357I Missense 9/17 - 1
2-157414002-C-A c.1073C>A p.P358Q Missense 9/17 - 1
2-157414010-G-T c.1081G>T p.V361F Missense 9/17 - 1
2-157414013-A-G c.1084A>G p.T362A Missense 9/17 - 3
2-157414015-A-G c.1086A>G p.T362= Synonymous 9/17 - 2
2-157414019-C-A c.1090C>A p.H364N Missense 9/17 - 1
2-157414022-C-T c.1093C>T p.P365S Missense 9/17 - 2
2-157414025-A-G c.1096A>G p.I366V Missense 9/17 - 3
2-157414028-C-T c.1099C>T p.P367S Missense 9/17 - 6
2-157414029-C-T c.1100C>T p.P367L Missense 9/17 - 4
2-157414034-G-A c.1105G>A p.E369K Missense 9/17 - 1
2-157414040-G-A c.1111G>A p.D371N Missense 9/17 - 1
2-157414043-A-G c.1114A>G p.I372V Missense 9/17 - 2
2-157414044-T-C c.1115T>C p.I372T Missense 9/17 - 1
2-157414051-C-T c.1122C>T p.F374= Synonymous 9/17 - 3
2-157414053-T-C c.1124T>C p.I375T Missense 9/17 - 1
2-157414055-T-C c.1126T>C p.L376= Synonymous 9/17 - 1
2-157414055-T-G c.1126T>G p.L376V Missense 9/17 - 1
2-157414057-G-A c.1128G>A p.L376= Synonymous 9/17 - 1
2-157414056-T-C c.1127T>C p.L376S Missense 9/17 - 1
2-157414057-G-C c.1128G>C p.L376F Missense 9/17 - 1
2-157414059-A-G c.1130A>G p.N377S Missense 9/17 - 1
2-157414063-A-C c.1134A>C p.E378D Missense 9/17 - 1
2-157414063-A-T c.1134A>T p.E378D Missense 9/17 - 1
2-157414067-C-T c.1138C>T p.R380C Missense 9/17 - 1
2-157414068-G-A c.1139G>A p.R380H Missense 9/17 - 2
2-157414068-G-T c.1139G>T p.R380L Missense 9/17 - 1
2-157414071-A-G c.1142A>G p.N381S Missense 9/17 - 1
2-157414076-C-T c.1147C>T p.L383= Synonymous 9/17 - 2
2-157414077-T-C c.1148T>C p.L383P Missense 9/17 - 1
2-157414079-A-G c.1150A>G p.S384G Missense 9/17 - 1
2-157414080-G-A c.1151G>A p.S384N Missense 9/17 - 1
2-157414081-T-C c.1152T>C p.S384= Synonymous 9/17 - 2
2-157414088-G-A c.1159G>A p.V387I Missense 9/17 - 1
2-157414091-G-T c.1162G>T p.E388* Nonsense 9/17 - 1
2-157414094-G-C c.1165G>C p.V389L Missense 9/17 - 1
2-157414094-G-GTGAGAAGAGGGGATGTCCTGGCAGCATGGAGTGGAATCCGTCCTCTTGTTACAGACCCCAAATCTGCA c.1165_1165+1insTGAGAAGAGGGGATGTCCTGGCAGCATGGAGTGGAATCCGTCCTCTTGTTACAGACCCCAAATCTGCA p.D412* SpliceDonorInsertion - - 1
2-157414365-T-C c.1165+271T>C - IntronicSNV - 9/16 1
2-157418642-G-A c.1165+4548G>A - IntronicSNV - 9/16 1
2-157418782-A-G c.1165+4688A>G - IntronicSNV - 9/16 1
2-157418784-T-C c.1165+4690T>C - IntronicSNV - 9/16 1
2-157418867-A-C c.1165+4773A>C - IntronicSNV - 9/16 1
2-157419692-T-C c.1165+5598T>C - IntronicSNV - 9/16 1
2-157425343-G-A c.1172G>A p.R391K Missense 10/17 - 1
2-157425346-G-T c.1175G>T p.G392V Missense 10/17 - 1
2-157425348-G-C c.1177G>C p.D393H Missense 10/17 - 1
2-157425354-C-T c.1183C>T p.L395= Synonymous 10/17 - 1
2-157425355-T-A c.1184T>A p.L395Q Missense 10/17 - 2
2-157425356-G-A c.1185G>A p.L395= Synonymous 10/17 - 1
2-157425363-T-A c.1192T>A p.W398R Missense 10/17 - 1
2-157425363-T-C c.1192T>C p.W398R Missense 10/17 - 1
2-157425364-G-A c.1193G>A p.W398* Nonsense 10/17 - 1
2-157425365-G-A c.1194G>A p.W398* Nonsense 10/17 - 1
2-157425367-G-A c.1196G>A p.S399N Missense 10/17 - 1
2-157425366-A-C c.1195A>C p.S399R Missense 10/17 - 1
2-157425368-T-A c.1197T>A p.S399R Missense 10/17 - 1
2-157425368-T-G c.1197T>G p.S399R Missense 10/17 - 1
2-157425370-G-A c.1199G>A p.G400E Missense 10/17 - 1
2-157425374-C-A c.1203C>A p.I401= Synonymous 10/17 - 1
2-157425374-C-T c.1203C>T p.I401= Synonymous 10/17 - 1
2-157425375-C-T c.1204C>T p.R402C Missense 10/17 - 3
2-157425378-C-A c.1207C>A p.P403T Missense 10/17 - 1
2-157425384-G-A c.1213G>A p.V405I Missense 10/17 - 1
2-157425389-A-T c.1218A>T p.T406= Synonymous 10/17 - 1
2-157425393-C-T c.1222C>T p.P408S Missense 10/17 - 1
2-157425394-C-A c.1223C>A p.P408H Missense 10/17 - 1
2-157425399-T-G c.1228T>G p.S410A Missense 10/17 - 1
2-157425402-G-T c.1231G>T p.A411S Missense 10/17 - 1
2-157425406-A-G c.1235A>G p.D412G Missense 10/17 - 1
2-157425415-C-G c.1244C>G p.S415C Missense 10/17 - 2
2-157425423-C-T c.1252C>T p.R418* Nonsense 10/17 - 3
2-157425424-G-A c.1253G>A p.R418Q Missense 10/17 - 6
2-157425438-G-C c.1267G>C p.D423H Missense 10/17 - 1
2-157425439-A-G c.1268A>G p.D423G Missense 10/17 - 1
2-157425445-G-A c.1274G>A p.S425N Missense 10/17 - 1
2-157425447-G-A c.1276G>A p.E426K Missense 10/17 - 1
2-157425447-G-T c.1276G>T p.E426* Nonsense 10/17 - 3
2-157425449-G-C c.1278G>C p.E426D Missense 10/17 - 4
2-157425449-G-T c.1278G>T p.E426D Missense 10/17 - 2
2-157425455-C-T c.1284C>T p.G428= Synonymous 10/17 - 3
2-157425465-A-G c.1294A>G p.I432V Missense 10/17 - 1
2-157425469-C-T c.1298C>T p.A433V Missense 10/17 - 1
2-157425492-A-T c.1300+21A>T - IntronicSNV - 10/16 1
2-157425497-C-T c.1300+26C>T - IntronicSNV - 10/16 1
2-157425502-C-T c.1300+31C>T - IntronicSNV - 10/16 1
2-157425502-CT-C c.1300+47del - IntronicDeletion - 10/16 2
2-157425519-G-A c.1300+48G>A - IntronicSNV - 10/16 1
2-157425519-G-T c.1300+48G>T - IntronicSNV - 10/16 1
2-157425801-A-G c.1301-74A>G - IntronicSNV - 10/16 2
2-157425818-A-G c.1301-57A>G - IntronicSNV - 10/16 1
2-157425876-T-C c.1302T>C p.G434= Synonymous 11/17 - 1
2-157425877-G-A c.1303G>A p.G435R Missense 11/17 - 1
2-157425879-A-C c.1305A>C p.G435= Synonymous 11/17 - 1
2-157425879-A-G c.1305A>G p.G435= Synonymous 11/17 - 1
2-157425879-A-T c.1305A>T p.G435= Synonymous 11/17 - 1
2-157425889-A-G c.1315A>G p.T439A Missense 11/17 - 2
2-157425890-C-T c.1316C>T p.T439I Missense 11/17 - 1
2-157425895-CGG-TGT c.1321_1323delinsTGT p.R441C Missense 11/17 - 1
2-157425895-C-T c.1321C>T p.R441W Missense 11/17 - 1
2-157425896-G-A c.1322G>A p.R441Q Missense 11/17 - 3
2-157425896-G-T c.1322G>T p.R441L Missense 11/17 - 1
2-157425898-TC-CG c.1324_1325delinsCG p.S442R Missense 11/17 - 1
2-157425910-G-T c.1336G>T p.D446Y Missense 11/17 - 1
2-157425912-T-A c.1338T>A p.D446E Missense 11/17 - 1
2-157425912-T-G c.1338T>G p.D446E Missense 11/17 - 1
2-157425915-C-T c.1341C>T p.T447= Synonymous 11/17 - 3
2-157425916-A-G c.1342A>G p.I448V Missense 11/17 - 2
2-157425919-A-C c.1345A>C p.N449H Missense 11/17 - 1
2-157425924-T-A c.1350T>A p.A450= Synonymous 11/17 - 2
2-157425924-T-C c.1350T>C p.A450= Synonymous 11/17 - 1
2-157425924-T-G c.1350T>G p.A450= Synonymous 11/17 - 1
2-157425925-G-T c.1351G>T p.A451S Missense 11/17 - 1
2-157425929-T-C c.1355T>C p.V452A Missense 11/17 - 1
2-157425930-C-T c.1356C>T p.V452= Synonymous 11/17 - 3
2-157425931-A-C c.1357A>C p.K453Q Missense 11/17 - 4
2-157425934-A-G c.1360A>G p.T454A Missense 11/17 - 1
2-157425935-C-T c.1361C>T p.T454I Missense 11/17 - 1
2-157425939-T-A c.1365T>A p.H455Q Missense 11/17 - 1
2-157425948-A-G c.1374A>G p.K458= Synonymous 11/17 - 1
2-157425949-G-A c.1375G>A p.A459T Missense 11/17 - 2
2-157425953-G-A c.1379G>A p.G460E Missense 11/17 - 1
2-157425956-C-T c.1382C>T p.P461L Missense 11/17 - 1
2-157425959-G-A c.1385G>A p.S462N Missense 11/17 - 1
2-157425961-AGA-CAT c.1387_1389delinsCAT p.R463H Missense 11/17 - 1
2-157425971-G-T c.1397G>T p.G466V Missense 11/17 - 1
2-157425972-G-A c.1398G>A p.G466= Synonymous 11/17 - 2
2-157425982-C-G c.1408C>G p.Q470E Missense 11/17 - 1
2-157425987-G-A c.1413G>A p.G471= Synonymous 11/17 - 1
2-157425987-G-C c.1413G>C p.G471= Synonymous 11/17 - 1
2-157425987-G-T c.1413G>T p.G471= Synonymous 11/17 - 2
2-157426002-C-T c.1428C>T p.S476= Synonymous 11/17 - 1
2-157426011-C-A c.1437C>A p.L479= Synonymous 11/17 - 1
2-157426011-C-G c.1437C>G p.L479= Synonymous 11/17 - 3
2-157426011-C-T c.1437C>T p.L479= Synonymous 11/17 - 1
2-157426013-A-G c.1439A>G p.Y480C Missense 11/17 - 1
2-157426015-A-T c.1441A>T p.I481F Missense 11/17 - 1
2-157426018-AG-CA c.1444_1445delinsCA p.R482Q Missense 11/17 - 1
2-157426026-G-A c.1452G>A p.V484= Synonymous 11/17 - 1
2-157426037-G-C c.1463G>C p.G488A Missense 11/17 - 4
2-157426041-T-C c.1467T>C p.L489= Synonymous 11/17 - 1
2-157426047-C-T c.1473C>T p.S491= Synonymous 11/17 - 3
2-157426048-G-A c.1474G>A p.E492K Missense 11/17 - 2
2-157426114-ACTGG-A c.1476+66_1476+69del - IntronicDeletion - 11/16 1
2-157426116-T-A c.1476+66T>A - IntronicSNV - 11/16 1
2-157426617-G-A c.1495G>A p.A499T Missense 12/17 - 1
2-157426617-G-C c.1495G>C p.A499P Missense 12/17 - 4
2-157426626-G-T c.1504G>T p.G502C Missense 12/17 - 1
2-157426629-G-A c.1507G>A p.D503N Missense 12/17 - 1
2-157426631-T-A c.1509T>A p.D503E Missense 12/17 - 1
2-157426641-G-A c.1519G>A p.E507K Missense 12/17 - 1
2-157426647-G-A c.1525G>A p.A509T Missense 12/17 - 1
2-157426660-G-A c.1538G>A p.S513N Missense 12/17 - 1
2-157426662-GTG-ATC c.1540_1542delinsATC p.V514I Missense 12/17 - 1
2-157426664-G-A c.1542G>A p.V514= Synonymous 12/17 - 2
2-157426664-G-C c.1542G>C p.V514= Synonymous 12/17 - 1
2-157426664-G-T c.1542G>T p.V514= Synonymous 12/17 - 1
2-157426665-A-G c.1543A>G p.T515A Missense 12/17 - 1
2-157426666-C-T c.1544C>T p.T515I Missense 12/17 - 1
2-157426668-G-T c.1546G>T p.G516C Missense 12/17 - 1
2-157426674-A-G c.1552A>G p.R518G Missense 12/17 - 1
2-157426675-G-C c.1553G>C p.R518T Missense 12/17 - 1
2-157426678-G-A c.1556G>A p.W519* Nonsense 12/17 - 1
2-157426679-G-A c.1557G>A p.W519* Nonsense 12/17 - 1
2-157426687-T-C c.1565T>C p.V522A Missense 12/17 - 1
2-157426688-T-TG c.1568dup p.V524Sfs*11 Frameshift 12/17 - 1
2-157426695-C-T c.1573C>T p.R525C Missense 12/17 - 1
2-157426696-G-A c.1574G>A p.R525H Missense 12/17 - 5
2-157426701-G-A c.1579G>A p.V527M Missense 12/17 - 1
2-157426711-T-C c.1589T>C p.F530S Missense 12/17 - 1
2-157426714-C-T c.1592C>T p.P531L Missense 12/17 - 2
2-157426715-A-AAC c.1593_1594insAC p.Y532Tfs*7 Frameshift 12/17 - 1
2-157426715-A-C c.1593A>C p.P531= Synonymous 12/17 - 1
2-157426715-A-G c.1593A>G p.P531= Synonymous 12/17 - 1
2-157426715-A-T c.1593A>T p.P531= Synonymous 12/17 - 1
2-157426725-G-A c.1603G>A p.A535T Missense 12/17 - 2
2-157426726-C-T c.1604C>T p.A535V Missense 12/17 - 1
2-157426730-G-A c.1608G>A p.E536= Synonymous 12/17 - 1
2-157426730-G-C c.1608G>C p.E536D Missense 12/17 - 1
2-157426730-G-T c.1608G>T p.E536D Missense 12/17 - 2
2-157427593-T-A c.1609-53T>A - IntronicSNV - 12/16 4
2-157427593-T-C c.1609-53T>C - IntronicSNV - 12/16 4
2-157427664-G-T c.1627G>T p.E543* Nonsense 13/17 - 1
2-157427670-G-A c.1633G>A p.A545T Missense 13/17 - 3
2-157427680-C-A c.1643C>A p.A548D Missense 13/17 - 2
2-157427685-G-A c.1648G>A p.D550N Missense 13/17 - 1
2-157427695-C-T c.1658C>T p.S553L Missense 13/17 - 4
2-157427697-C-T c.1660C>T p.R554C Missense 13/17 - 1
2-157427698-G-A c.1661G>A p.R554H Missense 13/17 - 1
2-157427701-G-A c.1664G>A p.R555H Missense 13/17 - 2
2-157427707-G-A c.1670G>A p.R557H Missense 13/17 - 2
2-157427707-G-T c.1670G>T p.R557L Missense 13/17 - 1
2-157427715-T-C c.1678T>C p.F560L Missense 13/17 - 1
2-157427723-T-C c.1686T>C p.N562= Synonymous 13/17 - 1
2-157427724-G-T c.1687G>T p.V563F Missense 13/17 - 1
2-157427725-TC-AG c.1688_1689delinsAG p.V563E Missense 13/17 - 1
2-157427725-T-G c.1688T>G p.V563G Missense 13/17 - 1
2-157427739-G-A c.1702G>A p.E568K Missense 13/17 - 1
2-157427743-C-T c.1706C>T p.A569V Missense 13/17 - 1
2-157427744-C-G c.1707C>G p.A569= Synonymous 13/17 - 1
2-157427762-A-C c.1725A>C p.E575D Missense 13/17 - 1
2-157427762-A-T c.1725A>T p.E575D Missense 13/17 - 1
2-157427763-C-G c.1726C>G p.L576V Missense 13/17 - 3
2-157427768-G-A c.1731G>A p.M577I Missense 13/17 - 1
2-157427768-G-C c.1731G>C p.M577I Missense 13/17 - 1
2-157427768-G-T c.1731G>T p.M577I Missense 13/17 - 1
2-157427785-G-A c.1748G>A p.W583* Nonsense 13/17 - 1
2-157427786-G-A c.1749G>A p.W583* Nonsense 13/17 - 2
2-157427798-G-A c.1761G>A p.K587= Synonymous 13/17 - 1
2-157427804-G-A c.1767G>A p.Q589= Synonymous 13/17 - 1
2-157427806-T-G c.1767+2T>G - IntronicSNV - 13/16 1
2-157427808-T-C c.1767+4T>C - IntronicSNV - 13/16 1
2-157427837-C-A c.1767+33C>A - IntronicSNV - 13/16 6
2-157427837-C-G c.1767+33C>G - IntronicSNV - 13/16 5
2-157427837-C-T c.1767+33C>T - IntronicSNV - 13/16 5
2-157427850-G-A c.1767+46G>A - IntronicSNV - 13/16 6
2-157430439-T-C c.1767+2635T>C - IntronicSNV - 13/16 1
2-157435406-A-G c.1773A>G p.Q591= Synonymous 14/17 - 1
2-157435413-A-C c.1780A>C p.T594P Missense 14/17 - 1
2-157435414-C-T c.1781C>T p.T594I Missense 14/17 - 2
2-157435419-AG-CA c.1786_1787delinsCA p.R596Q Missense 14/17 - 1
2-157435419-A-T c.1786A>T p.R596W Missense 14/17 - 1
2-157435420-G-A c.1787G>A p.R596K Missense 14/17 - 1
2-157435436-T-C c.1803T>C p.Y601= Synonymous 14/17 - 2
2-157435443-G-A c.1810G>A p.G604S Missense 14/17 - 2
2-157435443-G-T c.1810G>T p.G604C Missense 14/17 - 3
2-157435450-A-C c.1817A>C p.K606T Missense 14/17 - 4
2-157435450-A-G c.1817A>G p.K606R Missense 14/17 - 3
2-157435456-G-A c.1823G>A p.R608Q Missense 14/17 - 2
2-157435456-G-C c.1823G>C p.R608P Missense 14/17 - 1
2-157435458-T-A c.1825T>A p.S609T Missense 14/17 - 2
2-157435459-C-A c.1826C>A p.S609* Nonsense 14/17 - 1
2-157435459-C-G c.1826C>G p.S609* Nonsense 14/17 - 1
2-157435459-C-T c.1826C>T p.S609L Missense 14/17 - 1
2-157435468-T-A c.1835T>A p.L612* Nonsense 14/17 - 1
2-157435468-T-G c.1835T>G p.L612* Nonsense 14/17 - 1
2-157435471-C-T c.1838C>T p.T613I Missense 14/17 - 1
2-157435473-G-T c.1840G>T p.D614Y Missense 14/17 - 1
2-157435476-C-T c.1843C>T p.R615C Missense 14/17 - 7
2-157435477-G-A c.1844G>A p.R615H Missense 14/17 - 2
2-157435477-G-C c.1844G>C p.R615P Missense 14/17 - 1
2-157435487-T-C c.1854T>C p.I618= Synonymous 14/17 - 1
2-157435489-G-A c.1856G>A p.S619N Missense 14/17 - 1
2-157435491-C-T c.1858C>T p.L620= Synonymous 14/17 - 1
2-157435493-A-C c.1860A>C p.L620= Synonymous 14/17 - 1
2-157435493-A-G c.1860A>G p.L620= Synonymous 14/17 - 1
2-157435493-A-T c.1860A>T p.L620= Synonymous 14/17 - 1
2-157435495-T-C c.1862T>C p.L621P Missense 14/17 - 1
2-157435498-C-T c.1865C>T p.P622L Missense 14/17 - 1
2-157435500-T-A c.1867T>A p.S623T Missense 14/17 - 1
2-157435501-C-A c.1868C>A p.S623* Nonsense 14/17 - 1
2-157435503-G-A c.1870G>A p.D624N Missense 14/17 - 2
2-157435508-T-G c.1875T>G p.I625M Missense 14/17 - 1
2-157435543-C-CT c.1880+39dup - IntronicInsertion - 14/16 1
2-157435543-CT-C c.1880+39del - IntronicDeletion - 14/16 2
2-157435598-G-C c.1881G>C p.R627S Missense 15/17 - 3
2-157435599-T-G c.1882T>G p.Y628D Missense 15/17 - 1
2-157435604-G-C c.1887G>C p.K629N Missense 15/17 - 1
2-157435604-G-T c.1887G>T p.K629N Missense 15/17 - 1
2-157435619-G-A c.1902G>A p.K634= Synonymous 15/17 - 1
2-157435621-T-A c.1904T>A p.F635Y Missense 15/17 - 2
2-157435621-T-C c.1904T>C p.F635S Missense 15/17 - 4
2-157435623-GAT-TAA c.1906_1908delinsTAA p.D636* Nonsense 15/17 - 1
2-157435628-A-AT c.1911_1912insT p.D638* Nonsense 15/17 - 1
2-157435628-A-C c.1911A>C p.A637= Synonymous 15/17 - 1
2-157435628-A-G c.1911A>G p.A637= Synonymous 15/17 - 1
2-157435628-A-T c.1911A>T p.A637= Synonymous 15/17 - 1
2-157435634-G-A c.1917G>A p.Q639= Synonymous 15/17 - 1
2-157435634-G-C c.1917G>C p.Q639H Missense 15/17 - 1
2-157435636-A-C c.1919A>C p.K640T Missense 15/17 - 1
2-157435634-GA-G c.1920del p.G641Afs*12 Frameshift 15/17 - 2
2-157435638-G-A c.1921G>A p.G641S Missense 15/17 - 1
2-157435638-G-C c.1921G>C p.G641R Missense 15/17 - 1
2-157435653-G-T c.1936G>T p.V646F Missense 15/17 - 3
2-157435656-G-A c.1939G>A p.D647N Missense 15/17 - 1
2-157435659-GTT-ATG c.1942_1944delinsATG p.V648M Missense 15/17 - 1
2-157435660-T-C c.1943T>C p.V648A Missense 15/17 - 2
2-157435666-G-A c.1949G>A p.R650H Missense 15/17 - 1
2-157435673-A-G c.1956A>G p.L652= Synonymous 15/17 - 1
2-157435674-G-C c.1957G>C p.E653Q Missense 15/17 - 1
2-157436204-T-C c.1962T>C p.S654= Synonymous 16/17 - 1
2-157436209-A-G c.1967A>G p.N656S Missense 16/17 - 1
2-157436223-GA-G c.1985del p.N662Ifs*7 Frameshift 16/17 - 1
2-157436232-C-T c.1990C>T p.L664F Missense 16/17 - 1
2-157436261-G-C c.2019G>C p.L673F Missense 16/17 - 1
2-157436261-G-T c.2019G>T p.L673F Missense 16/17 - 1
2-157436270-T-C c.2028T>C p.N676= Synonymous 16/17 - 1
2-157436272-G-C c.2030G>C p.G677A Missense 16/17 - 1
2-157436285-C-A c.2043C>A p.L681= Synonymous 16/17 - 1
2-157436285-C-G c.2043C>G p.L681= Synonymous 16/17 - 1
2-157436285-C-T c.2043C>T p.L681= Synonymous 16/17 - 1
2-157436286-A-C c.2044A>C p.N682H Missense 16/17 - 3
2-157436287-A-G c.2045A>G p.N682S Missense 16/17 - 1
2-157436289-G-T c.2047G>T p.E683* Nonsense 16/17 - 1
2-157436294-T-A c.2052T>A p.F684L Missense 16/17 - 4
2-157436299-A-T c.2057A>T p.Q686L Missense 16/17 - 5
2-157436305-G-T c.2058+5G>T - IntronicSNV - 16/16 1
2-157436322-C-G c.2058+22C>G - IntronicSNV - 16/16 1
2-157437320-A-G c.2058+1020A>G - IntronicSNV - 16/16 1
2-157439305-C-G c.2059C>G p.L687V Missense 17/17 - 1
2-157439305-C-T c.2059C>T p.L687= Synonymous 17/17 - 2
2-157439307-G-A c.2061G>A p.L687= Synonymous 17/17 - 3
2-157439307-G-C c.2061G>C p.L687= Synonymous 17/17 - 2
2-157439307-G-T c.2061G>T p.L687= Synonymous 17/17 - 2
2-157439320-C-T c.2074C>T p.Q692* Nonsense 17/17 - 2
2-157439329-AG-CA c.2083_2084delinsCA p.R695Q Missense 17/17 - 1
2-157439333-T-C c.2087T>C p.V696A Missense 17/17 - 2
2-157439338-G-A c.2092G>A p.G698R Missense 17/17 - 1
2-157439354-T-A c.2108T>A p.I703K Missense 17/17 - 1
2-157439356-C-T c.2110C>T p.L704= Synonymous 17/17 - 1
2-157439359-A-C c.2113A>C p.M705L Missense 17/17 - 1
2-157439369-C-T c.2123C>T p.A708V Missense 17/17 - 4
2-157439371-G-A c.2125G>A p.E709K Missense 17/17 - 2
2-157439371-G-C c.2125G>C p.E709Q Missense 17/17 - 4
2-157439376-G-A c.2130G>A p.E710= Synonymous 17/17 - 1
2-157439380-C-T c.2134C>T p.L712F Missense 17/17 - 2
2-157439382-C-T c.2136C>T p.L712= Synonymous 17/17 - 3
2-157439389-A-G c.2143A>G p.R715G Missense 17/17 - 1
2-157439392-G-A c.2146G>A p.V716I Missense 17/17 - 3
2-157439395-C-T c.2149C>T p.P717S Missense 17/17 - 3
2-157439404-G-A c.2158G>A p.V720M Missense 17/17 - 1
2-157439405-T-C c.2159T>C p.V720A Missense 17/17 - 1
2-157439407-G-A c.2161G>A p.D721N Missense 17/17 - 4
2-157439409-C-T c.2163C>T p.D721= Synonymous 17/17 - 1
2-157439410-C-A c.2164C>A p.R722S Missense 17/17 - 1
2-157439411-G-A c.2165G>A p.R722H Missense 17/17 - 3
2-157439417-G-A c.2171G>A p.C724Y Missense 17/17 - 1
2-157439430-A-G c.2184A>G p.*728Wext*24 Missense 17/17 - 1
2-157439590-G-C c.*160G>C - 3-UTRSNV 17/17 - 3
2-157439857-A-G c.*427A>G - 3-UTRSNV 17/17 - 4
2-157440169-C-A c.*739C>A - 3-UTRSNV 17/17 - 2
2-157440169-C-G c.*739C>G - 3-UTRSNV 17/17 - 2
2-157440644-G-A c.*1214G>A - 3-UTRSNV 17/17 - 5
2-157440644-G-C c.*1214G>C - 3-UTRSNV 17/17 - 5
2-157441301-A-G c.*1871A>G - 3-UTRSNV 17/17 - 1
2-157441664-G-C c.*2234G>C - 3-UTRSNV 17/17 - 5
2-157441803-C-T c.*2373C>T - 3-UTRSNV 17/17 - 1
2-157442237-G-A c.*2807G>A - 3-UTRSNV 17/17 - 1
2-157442253-G-A c.*2823G>A - 3-UTRSNV 17/17 - 5
2-157442758-G-T c.*3328G>T - 3-UTRSNV 17/17 - 1