SCN4B

SCN4B sodium voltage-gated channel beta subunit 4

Annotation transcript: NM_174934.4

329 unique variant annotations were identified in 240 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
11-118004688-A-G c.*3054T>C - 3-UTRSNV 5/5 - 7
11-118004688-A-T c.*3054T>A - 3-UTRSNV 5/5 - 7
11-118004863-A-G c.*2879T>C - 3-UTRSNV 5/5 - 3
11-118005119-T-A c.*2623A>T - 3-UTRSNV 5/5 - 6
11-118005119-T-C c.*2623A>G - 3-UTRSNV 5/5 - 6
11-118005622-T-A c.*2120A>T - 3-UTRSNV 5/5 - 3
11-118005622-T-G c.*2120A>C - 3-UTRSNV 5/5 - 3
11-118005922-C-T c.*1820G>A - 3-UTRSNV 5/5 - 1
11-118006408-C-T c.*1334G>A - 3-UTRSNV 5/5 - 5
11-118006756-G-A c.*986C>T - 3-UTRSNV 5/5 - 3
11-118006756-G-C c.*986C>G - 3-UTRSNV 5/5 - 3
11-118006756-G-T c.*986C>A - 3-UTRSNV 5/5 - 3
11-118006930-T-C c.*812A>G - 3-UTRSNV 5/5 - 3
11-118006930-T-G c.*812A>C - 3-UTRSNV 5/5 - 3
11-118006957-C-G c.*785G>C - 3-UTRSNV 5/5 - 4
11-118006957-C-T c.*785G>A - 3-UTRSNV 5/5 - 4
11-118007735-G-A c.*7C>T - 3-UTRSNV 5/5 - 2
11-118007746-A-G c.683T>C p.V228A Missense 5/5 - 1
11-118007747-C-T c.682G>A p.V228M Missense 5/5 - 1
11-118007748-T-G c.681A>C p.K227N Missense 5/5 - 1
11-118007750-T-C c.679A>G p.K227E Missense 5/5 - 1
11-118007751-T-G c.678A>C p.S226= Synonymous 5/5 - 2
11-118007752-G-A c.677C>T p.S226L Missense 5/5 - 1
11-118007755-G-A c.674C>T p.P225L Missense 5/5 - 1
11-118007756-G-A c.673C>T p.P225S Missense 5/5 - 3
11-118007759-G-T c.670C>A p.P224T Missense 5/5 - 1
11-118007760-T-A c.669A>T p.K223N Missense 5/5 - 1
11-118007760-T-G c.669A>C p.K223N Missense 5/5 - 1
11-118007766-C-A c.663G>T p.E221D Missense 5/5 - 1
11-118007768-C-T c.661G>A p.E221K Missense 5/5 - 1
11-118007770-G-A c.659C>T p.A220V Missense 5/5 - 1
11-118007771-C-A c.658G>T p.A220S Missense 5/5 - 2
11-118007771-C-T c.658G>A p.A220T Missense 5/5 - 1
11-118007777-A-G c.652T>C p.S218P Missense 5/5 - 1
11-118007778-G-A c.651C>T p.G217= Synonymous 5/5 - 1
11-118007778-G-C c.651C>G p.G217= Synonymous 5/5 - 1
11-118007778-G-T c.651C>A p.G217= Synonymous 5/5 - 3
11-118007780-C-A c.649G>T p.G217C Missense 5/5 - 1
11-118007782-G-A c.647C>T p.P216L Missense 5/5 - 5
11-118007784-C-A c.645G>T p.L215F Missense 5/5 - 1
11-118007784-C-G c.645G>C p.L215F Missense 5/5 - 1
11-118007788-C-G c.641G>C p.G214A Missense 5/5 - 1
11-118007788-C-T c.641G>A p.G214D Missense 5/5 - 2
11-118007789-C-T c.640G>A p.G214S Missense 5/5 - 3
11-118007790-G-A c.639C>T p.N213= Synonymous 5/5 - 5
11-118007791-T-A c.638A>T p.N213I Missense 5/5 - 1
11-118007793-C-A c.636G>T p.E212D Missense 5/5 - 1
11-118007793-C-G c.636G>C p.E212D Missense 5/5 - 1
11-118007794-T-A c.635A>T p.E212V Missense 5/5 - 1
11-118007795-C-A c.634G>T p.E212* Nonsense 5/5 - 1
11-118007795-C-T c.634G>A p.E212K Missense 5/5 - 3
11-118007796-C-A c.633G>T p.T211= Synonymous 5/5 - 2
11-118007796-C-T c.633G>A p.T211= Synonymous 5/5 - 1
11-118007797-G-A c.632C>T p.T211M Missense 5/5 - 3
11-118007797-G-C c.632C>G p.T211R Missense 5/5 - 10
11-118007797-G-T c.632C>A p.T211K Missense 5/5 - 1
11-118007804-C-T c.625G>A p.D209N Missense 5/5 - 1
11-118007805-A-G c.624T>C p.N208= Synonymous 5/5 - 1
11-118007808-C-T c.621G>A p.G207= Synonymous 5/5 - 2
11-118007809-C-T c.620G>A p.G207E Missense 5/5 - 1
11-118007810-C-A c.619G>T p.G207W Missense 5/5 - 1
11-118007810-C-G c.619G>C p.G207R Missense 5/5 - 1
11-118007810-C-T c.619G>A p.G207R Missense 5/5 - 1
11-118007811-C-A c.618G>T p.S206= Synonymous 5/5 - 1
11-118007811-C-T c.618G>A p.S206= Synonymous 5/5 - 1
11-118007812-G-A c.617C>T p.S206L Missense 5/5 - 14
11-118007812-GA-TT c.616_617delinsAA p.S206K Missense 5/5 - 1
11-118007812-G-T c.617C>A p.S206* Nonsense 5/5 - 1
11-118007815-G-T c.614C>A p.S205Y Missense 5/5 - 1
11-118007816-A-G c.613T>C p.S205P Missense 5/5 - 3
11-118007816-A-T c.613T>A p.S205T Missense 5/5 - 2
11-118007822-C-A c.607G>T p.V203L Missense 5/5 - 1
11-118007822-C-T c.607G>A p.V203M Missense 5/5 - 3
11-118007823-G-A c.606C>T p.L202= Synonymous 5/5 - 1
11-118007823-GA-TT c.605_606delinsAA p.L202Q Missense 5/5 - 1
11-118007825-G-A c.604C>T p.L202F Missense 5/5 - 1
11-118007827-C-T c.602G>A p.C201Y Missense 5/5 - 1
11-118007830-T-C c.599A>G p.E200G Missense 5/5 - 2
11-118007835-C-T c.594G>A p.K198= Synonymous 5/5 - 1
11-118007837-T-C c.594-2A>G - IntronicSNV - 4/4 1
11-118009279-G-A c.594-1444C>T - IntronicSNV - 4/4 1
11-118009279-G-T c.594-1444C>A - IntronicSNV - 4/4 1
11-118011776-G-A c.593+146C>T - IntronicSNV - 4/4 2
11-118011805-C-A c.593+117G>T - IntronicSNV - 4/4 1
11-118011805-C-G c.593+117G>C - IntronicSNV - 4/4 1
11-118011805-C-T c.593+117G>A - IntronicSNV - 4/4 4
11-118011860-G-A c.593+62C>T - IntronicSNV - 4/4 4
11-118011924-C-A c.591G>T p.K197N Missense 4/5 - 1
11-118011924-C-G c.591G>C p.K197N Missense 4/5 - 1
11-118011931-C-A c.584G>T p.R195L Missense 4/5 - 1
11-118011931-C-G c.584G>C p.R195P Missense 4/5 - 1
11-118011932-G-A c.583C>T p.R195W Missense 4/5 - 1
11-118011934-G-C c.581C>G p.T194S Missense 4/5 - 1
11-118011937-T-G c.578A>C p.K193T Missense 4/5 - 1
11-118011942-C-A c.573G>T p.L191= Synonymous 4/5 - 1
11-118011942-C-G c.573G>C p.L191= Synonymous 4/5 - 1
11-118011942-C-T c.573G>A p.L191= Synonymous 4/5 - 1
11-118011944-G-A c.571C>T p.L191= Synonymous 4/5 - 1
11-118011947-T-G c.568A>C p.I190L Missense 4/5 - 1
11-118011948-G-A c.567C>T p.F189= Synonymous 4/5 - 2
11-118011948-G-C c.567C>G p.F189L Missense 4/5 - 1
11-118011948-G-T c.567C>A p.F189L Missense 4/5 - 1
11-118011950-A-G c.565T>C p.F189L Missense 4/5 - 1
11-118011963-C-A c.552G>T p.K184N Missense 4/5 - 2
11-118011963-C-G c.552G>C p.K184N Missense 4/5 - 2
11-118011966-G-A c.549C>T p.I183= Synonymous 4/5 - 2
11-118011966-G-T c.549C>A p.I183= Synonymous 4/5 - 1
11-118011967-GA-G c.548del p.I183Tfs*9 Frameshift 4/5 - 1
11-118011971-G-C c.544C>G p.L182V Missense 4/5 - 1
11-118011971-G-T c.544C>A p.L182M Missense 4/5 - 2
11-118011973-A-G c.542T>C p.L181P Missense 4/5 - 1
11-118011975-G-A c.540C>T p.I180= Synonymous 4/5 - 1
11-118011975-G-T c.540C>A p.I180= Synonymous 4/5 - 1
11-118011980-G-A c.535C>T p.L179F Missense 4/5 - 20
11-118011983-T-C c.532A>G p.I178V Missense 4/5 - 1
11-118011986-G-T c.529C>A p.L177I Missense 4/5 - 1
11-118011991-C-A c.524G>T p.G175V Missense 4/5 - 1
11-118011993-G-A c.522C>T p.I174= Synonymous 4/5 - 1
11-118011997-A-AC c.517dup p.V173Gfs*37 Frameshift 4/5 - 1
11-118012002-G-A c.513C>T p.G171= Synonymous 4/5 - 1
11-118012002-G-C c.513C>G p.G171= Synonymous 4/5 - 1
11-118012002-G-T c.513C>A p.G171= Synonymous 4/5 - 1
11-118012004-C-A c.511G>T p.G171C Missense 4/5 - 5
11-118012002-G-GC c.512dup p.G172Rfs*38 Frameshift 4/5 - 1
11-118012006-A-G c.509T>C p.V170A Missense 4/5 - 1
11-118012007-C-T c.508G>A p.V170M Missense 4/5 - 2
11-118012008-G-A c.507C>T p.V169= Synonymous 4/5 - 1
11-118012008-G-C c.507C>G p.V169= Synonymous 4/5 - 1
11-118012008-G-T c.507C>A p.V169= Synonymous 4/5 - 1
11-118012009-A-T c.506T>A p.V169D Missense 4/5 - 1
11-118012010-C-G c.505G>C p.V169L Missense 4/5 - 1
11-118012010-C-T c.505G>A p.V169I Missense 4/5 - 1
11-118012019-T-G c.496A>C p.I166L Missense 4/5 - 5
11-118012029-C-A c.486G>T p.V162= Synonymous 4/5 - 1
11-118012029-C-G c.486G>C p.V162= Synonymous 4/5 - 1
11-118012029-C-T c.486G>A p.V162= Synonymous 4/5 - 1
11-118012030-A-C c.485T>G p.V162G Missense 4/5 - 5
11-118012035-G-C c.480C>G p.N160K Missense 4/5 - 1
11-118012049-C-G c.466G>C p.E156Q Missense 4/5 - 1
11-118012164-G-A c.464-113C>T - IntronicSNV - 3/4 2
11-118012441-C-A c.464-390G>T - IntronicSNV - 3/4 1
11-118014547-C-T c.463+1G>A - IntronicSNV - 3/4 1
11-118014552-A-C c.459T>G p.D153E Missense 3/5 - 1
11-118014552-A-T c.459T>A p.D153E Missense 3/5 - 1
11-118014553-T-A c.458A>T p.D153V Missense 3/5 - 1
11-118014557-C-T c.454G>A p.V152I Missense 3/5 - 4
11-118014558-G-A c.453C>T p.V151= Synonymous 3/5 - 1
11-118014566-G-A c.445C>T p.L149F Missense 3/5 - 1
11-118014566-G-C c.445C>G p.L149V Missense 3/5 - 2
11-118014567-G-A c.444C>T p.F148= Synonymous 3/5 - 1
11-118014573-G-A c.438C>T p.T146= Synonymous 3/5 - 1
11-118014573-G-C c.438C>G p.T146= Synonymous 3/5 - 1
11-118014573-G-T c.438C>A p.T146= Synonymous 3/5 - 1
11-118014578-C-A c.433G>T p.A145S Missense 3/5 - 1
11-118014578-C-T c.433G>A p.A145T Missense 3/5 - 6
11-118014581-G-A c.430C>T p.H144Y Missense 3/5 - 2
11-118014581-G-T c.430C>A p.H144N Missense 3/5 - 1
11-118014589-A-C c.422T>G p.L141R Missense 3/5 - 1
11-118014590-G-A c.421C>T p.L141F Missense 3/5 - 1
11-118014599-C-A c.412G>T p.E138* Nonsense 3/5 - 1
11-118014599-C-T c.412G>A p.E138K Missense 3/5 - 4
11-118014604-G-A c.407C>T p.P136L Missense 3/5 - 2
11-118014605-G-A c.406C>T p.P136S Missense 3/5 - 1
11-118014609-C-A c.402G>T p.K134N Missense 3/5 - 1
11-118014609-C-G c.402G>C p.K134N Missense 3/5 - 1
11-118014614-C-T c.397G>A p.V133M Missense 3/5 - 1
11-118014617-G-A c.394C>T p.H132Y Missense 3/5 - 5
11-118014618-G-C c.393C>G p.C131W Missense 3/5 - 1
11-118014623-T-G c.388A>C p.T130P Missense 3/5 - 1
11-118014631-C-G c.380G>C p.G127A Missense 3/5 - 1
11-118014633-C-T c.378G>A p.T126= Synonymous 3/5 - 2
11-118014634-G-A c.377C>T p.T126M Missense 3/5 - 1
11-118014638-C-T c.373G>A p.D125N Missense 3/5 - 1
11-118014650-G-T c.361C>A p.L121M Missense 3/5 - 1
11-118014653-C-T c.358G>A p.D120N Missense 3/5 - 2
11-118014654-C-A c.357G>T p.R119S Missense 3/5 - 1
11-118014658-A-G c.353T>C p.L118P Missense 3/5 - 1
11-118014663-A-G c.348T>C p.I116= Synonymous 3/5 - 1
11-118014663-A-T c.348T>A p.I116= Synonymous 3/5 - 1
11-118014664-A-T c.347T>A p.I116N Missense 3/5 - 2
11-118014667-G-A c.344C>T p.S115F Missense 3/5 - 6
11-118014687-C-T c.324G>A p.K108= Synonymous 3/5 - 2
11-118014691-G-A c.320C>T p.T107I Missense 3/5 - 3
11-118014694-G-T c.317C>A p.S106Y Missense 3/5 - 1
11-118014698-C-T c.313G>A p.G105S Missense 3/5 - 1
11-118014699-TAC-CAT c.310_312delinsATG p.V104M Missense 3/5 - 1
11-118014701-C-T c.310G>A p.V104I Missense 3/5 - 1
11-118014706-GT-CA c.304_305delinsTG p.T102C Missense 3/5 - 1
11-118014708-G-A c.303C>T p.I101= Synonymous 3/5 - 2
11-118014708-G-T c.303C>A p.I101= Synonymous 3/5 - 2
11-118014712-C-T c.299G>A p.R100H Missense 3/5 - 2
11-118014713-G-A c.298C>T p.R100C Missense 3/5 - 5
11-118014713-G-T c.298C>A p.R100S Missense 3/5 - 1
11-118014715-T-A c.296A>T p.D99V Missense 3/5 - 1
11-118014716-C-T c.295G>A p.D99N Missense 3/5 - 1
11-118014720-G-A c.291C>T p.D97= Synonymous 3/5 - 4
11-118014724-T-A c.287A>T p.K96I Missense 3/5 - 1
11-118014725-T-C c.286A>G p.K96E Missense 3/5 - 1
11-118014730-G-A c.281C>T p.T94M Missense 3/5 - 3
11-118014734-C-CAT c.276_277insAT p.V93Mfs*2 Frameshift 3/5 - 1
11-118014734-C-T c.277G>A p.V93M Missense 3/5 - 1
11-118014739-G-A c.272C>T p.P91L Missense 3/5 - 1
11-118014741-G-A c.270C>T p.D90= Synonymous 3/5 - 1
11-118014742-T-C c.269A>G p.D90G Missense 3/5 - 1
11-118014747-C-A c.264G>T p.K88N Missense 3/5 - 3
11-118014747-C-G c.264G>C p.K88N Missense 3/5 - 3
11-118014752-C-T c.259G>A p.E87K Missense 3/5 - 1
11-118014756-C-A c.255G>T p.K85N Missense 3/5 - 2
11-118014756-C-G c.255G>C p.K85N Missense 3/5 - 1
11-118014756-C-T c.255G>A p.K85= Synonymous 3/5 - 2
11-118014764-T-C c.247A>G p.T83A Missense 3/5 - 1
11-118014769-T-A c.242A>T p.E81V Missense 3/5 - 1
11-118014771-T-C c.240A>G p.I80M Missense 3/5 - 1
11-118014772-A-G c.239T>C p.I80T Missense 3/5 - 2
11-118015772-A-C c.234T>G p.I78M Missense 2/5 - 1
11-118015778-G-A c.228C>T p.F76= Synonymous 2/5 - 1
11-118015778-G-C c.228C>G p.F76L Missense 2/5 - 1
11-118015778-G-T c.228C>A p.F76L Missense 2/5 - 1
11-118015780-A-G c.226T>C p.F76L Missense 2/5 - 1
11-118015781-TG-GT c.224_225delinsAC p.A75D Missense 2/5 - 1
11-118015783-C-T c.223G>A p.A75T Missense 2/5 - 4
11-118015784-G-A c.222C>T p.D74= Synonymous 2/5 - 1
11-118015789-T-C c.217A>G p.S73G Missense 2/5 - 1
11-118015791-C-T c.215G>A p.S72N Missense 2/5 - 2
11-118015791-CT-AG c.214_215inv p.S72L Missense 2/5 - 1
11-118015795-T-C c.211A>G p.N71D Missense 2/5 - 1
11-118015797-T-C c.209A>G p.Y70C Missense 2/5 - 1
11-118015798-A-G c.208T>C p.Y70H Missense 2/5 - 1
11-118015802-C-T c.204G>A p.W68* Nonsense 2/5 - 1
11-118015803-C-T c.203G>A p.W68* Nonsense 2/5 - 1
11-118015805-CCG-ACA c.199_201delinsTGT p.R67C Missense 2/5 - 1
11-118015806-C-T c.200G>A p.R67Q Missense 2/5 - 3
11-118015808-G-A c.198C>T p.F66= Synonymous 2/5 - 1
11-118015810-A-T c.196T>A p.F66I Missense 2/5 - 1
11-118015812-T-A c.194A>T p.H65L Missense 2/5 - 3
11-118015818-TC-AA c.187_188delinsTT p.D63F Missense 2/5 - 1
11-118015819-C-T c.187G>A p.D63N Missense 2/5 - 1
11-118015825-A-G c.181T>C p.F61L Missense 2/5 - 1
11-118015832-G-A c.174C>T p.C58= Synonymous 2/5 - 9
11-118015833-CA-GC c.172_173delinsGC p.C58A Missense 2/5 - 2
11-118015837-T-A c.169A>T p.S57C Missense 2/5 - 1
11-118015839-G-A c.167C>T p.S56F Missense 2/5 - 1
11-118015841-G-C c.165C>G p.F55L Missense 2/5 - 1
11-118015841-G-T c.165C>A p.F55L Missense 2/5 - 1
11-118015843-A-G c.163T>C p.F55L Missense 2/5 - 1
11-118015844-G-A c.162C>T p.T54= Synonymous 2/5 - 1
11-118015848-GC-G c.158del p.C53Sfs*28 Frameshift 2/5 - 1
11-118015852-G-T c.154C>A p.P52T Missense 2/5 - 1
11-118015854-A-G c.152T>C p.L51P Missense 2/5 - 1
11-118015856-C-A c.150G>T p.L50= Synonymous 2/5 - 1
11-118015856-C-G c.150G>C p.L50= Synonymous 2/5 - 1
11-118015856-C-T c.150G>A p.L50= Synonymous 2/5 - 1
11-118015858-G-A c.148C>T p.L50= Synonymous 2/5 - 1
11-118015857-A-T c.149T>A p.L50Q Missense 2/5 - 1
11-118015862-C-A c.144G>T p.E48D Missense 2/5 - 4
11-118015862-C-G c.144G>C p.E48D Missense 2/5 - 2
11-118015864-C-G c.142G>C p.E48Q Missense 2/5 - 1
11-118015865-CGT-GTC c.139_141delinsGAC p.T47D Missense 2/5 - 1
11-118015865-C-T c.141G>A p.T47= Synonymous 2/5 - 3
11-118015866-G-C c.140C>G p.T47R Missense 2/5 - 1
11-118015869-C-T c.137G>A p.G46D Missense 2/5 - 1
11-118015873-T-A c.133A>T p.N45Y Missense 2/5 - 1
11-118015879-C-A c.127G>T p.A43S Missense 2/5 - 2
11-118015880-G-A c.126C>T p.Y42= Synonymous 2/5 - 1
11-118015883-G-T c.123C>A p.I41= Synonymous 2/5 - 1
11-118015886-G-C c.120C>G p.D40E Missense 2/5 - 1
11-118015886-G-T c.120C>A p.D40E Missense 2/5 - 1
11-118015890-G-GT c.115dup p.T39Nfs*36 Frameshift 2/5 - 1
11-118015891-T-C c.115A>G p.T39A Missense 2/5 - 1
11-118015894-C-A c.112G>T p.A38S Missense 2/5 - 1
11-118015894-C-G c.112G>C p.A38P Missense 2/5 - 2
11-118015894-C-T c.112G>A p.A38T Missense 2/5 - 1
11-118015901-CAC-GAT c.103_105delinsATC p.V35I Missense 2/5 - 1
11-118015903-C-A c.103G>T p.V35L Missense 2/5 - 1
11-118015903-C-T c.103G>A p.V35M Missense 2/5 - 1
11-118015906-A-G c.100T>C p.S34P Missense 2/5 - 1
11-118015907-C-T c.99G>A p.V33= Synonymous 2/5 - 1
11-118015908-A-T c.98T>A p.V33E Missense 2/5 - 1
11-118015909-C-T c.97G>A p.V33M Missense 2/5 - 2
11-118015912-C-A c.94G>T p.E32* Nonsense 2/5 - 1
11-118015913-CAG-AAA c.91_93delinsTTT p.L31F Missense 2/5 - 1
11-118015913-C-T c.93G>A p.L31= Synonymous 2/5 - 1
11-118015917-G-A c.89C>T p.S30L Missense 2/5 - 1
11-118015926-A-G c.80T>C p.V27A Missense 2/5 - 2
11-118015927-C-G c.79G>C p.V27L Missense 2/5 - 1
11-118015927-C-T c.79G>A p.V27I Missense 2/5 - 1
11-118015929-G-A c.77C>T p.P26L Missense 2/5 - 1
11-118015933-G-A c.73C>T p.L25F Missense 2/5 - 1
11-118015937-G-A c.69C>T p.F23= Synonymous 2/5 - 1
11-118015940-G-A c.66C>T p.L22= Synonymous 2/5 - 1
11-118015940-G-C c.66C>G p.L22= Synonymous 2/5 - 1
11-118015940-G-T c.66C>A p.L22= Synonymous 2/5 - 1
11-118015942-G-C c.64C>G p.L22V Missense 2/5 - 1
11-118016039-G-A c.62-95C>T - IntronicSNV - 1/4 7
11-118016039-G-C c.62-95C>G - IntronicSNV - 1/4 7
11-118016068-C-T c.62-124G>A - IntronicSNV - 1/4 10
11-118016273-G-C c.62-329C>G - IntronicSNV - 1/4 1
11-118016273-G-T c.62-329C>A - IntronicSNV - 1/4 1
11-118018725-G-A c.62-2781C>T - IntronicSNV - 1/4 1
11-118018767-G-A c.62-2823C>T - IntronicSNV - 1/4 1
11-118018767-G-C c.62-2823C>G - IntronicSNV - 1/4 1
11-118020242-A-G c.61+3086T>C - IntronicSNV - 1/4 1
11-118020399-C-T c.61+2929G>A - IntronicSNV - 1/4 1
11-118021740-C-G c.61+1588G>C - IntronicSNV - 1/4 1
11-118023101-A-C c.61+227T>G - IntronicSNV - 1/4 1
11-118023327-C-T c.61+1G>A - IntronicSNV - 1/4 1
11-118023329-C-T c.60G>A p.L20= Synonymous 1/5 - 1
11-118023331-A-G c.58T>C p.L20= Synonymous 1/5 - 1
11-118023333-A-G c.56T>C p.L19P Missense 1/5 - 1
11-118023336-C-T c.53G>A p.G18E Missense 1/5 - 2
11-118023339-G-A c.50C>T p.T17I Missense 1/5 - 1
11-118023347-C-T c.42G>A p.W14* Nonsense 1/5 - 1
11-118023348-C-A c.41G>T p.W14L Missense 1/5 - 1
11-118023348-C-T c.41G>A p.W14* Nonsense 1/5 - 2
11-118023354-G-A c.35C>T p.A12V Missense 1/5 - 1
11-118023354-GC-TG c.34_35delinsCA p.A12Q Missense 1/5 - 1
11-118023355-C-T c.34G>A p.A12T Missense 1/5 - 3
11-118023357-G-T c.32C>A p.P11Q Missense 1/5 - 1
11-118023360-G-A c.29C>T p.A10V Missense 1/5 - 1
11-118023360-GC-CA c.28_29delinsTG p.A10C Missense 1/5 - 1
11-118023367-C-T c.22G>A p.G8S Missense 1/5 - 14
11-118023371-G-T c.18C>A p.D6E Missense 1/5 - 1
11-118023376-C-G c.13G>C p.G5R Missense 1/5 - 1
11-118023376-C-T c.13G>A p.G5R Missense 1/5 - 1
11-118023378-G-C c.11C>G p.A4G Missense 1/5 - 1
11-118023383-G-A c.6C>T p.P2= Synonymous 1/5 - 1
11-118023383-G-C c.6C>G p.P2= Synonymous 1/5 - 1
11-118023383-G-T c.6C>A p.P2= Synonymous 1/5 - 1
11-118023385-G-A c.4C>T p.P2S Missense 1/5 - 1