STAMBPL1

STAMBPL1 STAM binding protein like 1

Annotation transcript: NM_020799.4

346 unique variant annotations were identified in 258 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
10-90661468-G-A c.3G>A p.M1? Missense 2/11 - 1
10-90661468-G-C c.3G>C p.M1? Missense 2/11 - 1
10-90661468-G-T c.3G>T p.M1? Missense 2/11 - 1
10-90661471-T-C c.6T>C p.D2= Synonymous 2/11 - 1
10-90661472-C-A c.7C>A p.Q3K Missense 2/11 - 3
10-90661477-T-A c.12T>A p.P4= Synonymous 2/11 - 2
10-90661477-T-C c.12T>C p.P4= Synonymous 2/11 - 3
10-90661477-T-G c.12T>G p.P4= Synonymous 2/11 - 2
10-90661479-T-G c.14T>G p.F5C Missense 2/11 - 1
10-90661484-G-C c.19G>C p.V7L Missense 2/11 - 1
10-90661491-C-G c.26C>G p.S9C Missense 2/11 - 1
10-90661493-C-T c.28C>T p.L10= Synonymous 2/11 - 1
10-90661495-G-A c.30G>A p.L10= Synonymous 2/11 - 1
10-90661495-G-C c.30G>C p.L10= Synonymous 2/11 - 1
10-90661495-G-T c.30G>T p.L10= Synonymous 2/11 - 1
10-90661698-A-G c.30+203A>G - IntronicSNV - 2/10 2
10-90662086-T-C c.30+591T>C - IntronicSNV - 2/10 1
10-90662086-T-G c.30+591T>G - IntronicSNV - 2/10 1
10-90665073-C-T c.31-127C>T - IntronicSNV - 2/10 1
10-90665204-A-C c.35A>C p.K12T Missense 3/11 - 1
10-90665209-GCT-AAG c.40_42delinsAAG p.A14K Missense 3/11 - 1
10-90665212-GC-CA c.43_44delinsCA p.A15H Missense 3/11 - 1
10-90665212-GCT-ATG c.43_45delinsATG p.A15M Missense 3/11 - 1
10-90665213-C-G c.44C>G p.A15G Missense 3/11 - 1
10-90665213-C-T c.44C>T p.A15V Missense 3/11 - 1
10-90665215-AT-GC c.46_47delinsGC p.M16A Missense 3/11 - 2
10-90665215-ATG-TGT c.46_48delinsTGT p.M16C Missense 3/11 - 2
10-90665219-C-G c.50C>G p.P17R Missense 3/11 - 1
10-90665227-A-T c.58A>T p.T20S Missense 3/11 - 2
10-90665228-C-G c.59C>G p.T20R Missense 3/11 - 1
10-90665230-G-A c.61G>A p.D21N Missense 3/11 - 1
10-90665230-GAT-ATG c.61_63delinsATG p.D21M Missense 3/11 - 1
10-90665240-T-G c.71T>G p.L24R Missense 3/11 - 1
10-90665243-G-A c.74G>A p.S25N Missense 3/11 - 1
10-90665247-A-C c.78A>C p.P26= Synonymous 3/11 - 2
10-90665247-A-G c.78A>G p.P26= Synonymous 3/11 - 2
10-90665247-A-T c.78A>T p.P26= Synonymous 3/11 - 4
10-90665248-G-A c.79G>A p.E27K Missense 3/11 - 1
10-90665251-G-A c.82G>A p.E28K Missense 3/11 - 1
10-90665253-G-A c.84G>A p.E28= Synonymous 3/11 - 1
10-90665254-C-G c.85C>G p.R29G Missense 3/11 - 1
10-90665254-C-T c.85C>T p.R29* Nonsense 3/11 - 1
10-90665260-C-T c.91C>T p.R31C Missense 3/11 - 1
10-90665261-G-A c.92G>A p.R31H Missense 3/11 - 3
10-90665266-CTA-TTT c.97_99delinsTTT p.L33F Missense 3/11 - 1
10-90665270-G-A c.101G>A p.S34N Missense 3/11 - 2
10-90665276-T-G c.107T>G p.L36R Missense 3/11 - 1
10-90665293-A-G c.124A>G p.I42V Missense 3/11 - 3
10-90665297-G-T c.128G>T p.S43I Missense 3/11 - 1
10-90665307-C-T c.138C>T p.I46= Synonymous 3/11 - 1
10-90665308-AC-GA c.139_140delinsGA p.T47D Missense 3/11 - 2
10-90665309-C-T c.140C>T p.T47I Missense 3/11 - 2
10-90665311-C-A c.142C>A p.P48T Missense 3/11 - 1
10-90665312-C-A c.143C>A p.P48Q Missense 3/11 - 2
10-90665312-C-G c.143C>G p.P48R Missense 3/11 - 1
10-90665312-C-T c.143C>T p.P48L Missense 3/11 - 1
10-90665314-C-A c.145C>A p.R49= Synonymous 3/11 - 1
10-90665316-A-C c.147A>C p.R49= Synonymous 3/11 - 1
10-90665316-A-G c.147A>G p.R49= Synonymous 3/11 - 1
10-90665316-A-T c.147A>T p.R49= Synonymous 3/11 - 1
10-90665315-G-A c.146G>A p.R49Q Missense 3/11 - 1
10-90665317-C-T c.148C>T p.R50C Missense 3/11 - 1
10-90665318-G-A c.149G>A p.R50H Missense 3/11 - 3
10-90665321-A-G c.152A>G p.Y51C Missense 3/11 - 1
10-90665347-A-T c.178A>T p.R60W Missense 3/11 - 2
10-90665347-A-C c.178A>C p.R60= Synonymous 3/11 - 1
10-90665349-G-A c.180G>A p.R60= Synonymous 3/11 - 1
10-90665351-T-G c.182T>G p.M61R Missense 3/11 - 5
10-90665353-G-A c.184G>A p.A62T Missense 3/11 - 1
10-90665354-CG-TA c.185_186delinsTA p.A62V Missense 3/11 - 1
10-90665354-C-T c.185C>T p.A62V Missense 3/11 - 1
10-90665355-G-A c.186G>A p.A62= Synonymous 3/11 - 4
10-90665361-G-A c.192G>A p.V64= Synonymous 3/11 - 1
10-90665361-G-C c.192G>C p.V64= Synonymous 3/11 - 1
10-90665361-G-T c.192G>T p.V64= Synonymous 3/11 - 1
10-90665371-G-A c.202G>A p.E68K Missense 3/11 - 1
10-90665375-G-A c.206G>A p.G69E Missense 3/11 - 1
10-90665380-T-A c.211T>A p.L71M Missense 3/11 - 3
10-90665380-TT-GC c.211_212delinsGC p.L71A Missense 3/11 - 1
10-90665383-G-C c.214G>C p.E72Q Missense 3/11 - 1
10-90665390-C-T c.221C>T p.A74V Missense 3/11 - 1
10-90665391-C-A c.222C>A p.A74= Synonymous 3/11 - 1
10-90665391-C-G c.222C>G p.A74= Synonymous 3/11 - 1
10-90665391-C-T c.222C>T p.A74= Synonymous 3/11 - 1
10-90665398-C-T c.229C>T p.L77F Missense 3/11 - 1
10-90665413-A-G c.244A>G p.I82V Missense 3/11 - 7
10-90665415-A-C c.246A>C p.I82= Synonymous 3/11 - 1
10-90665415-A-T c.246A>T p.I82= Synonymous 3/11 - 1
10-90665417-C-A c.248C>A p.T83N Missense 3/11 - 1
10-90665417-C-T c.248C>T p.T83I Missense 3/11 - 1
10-90668265-G-T c.249-194G>T - IntronicSNV - 3/10 2
10-90668462-A-T c.252A>T p.L84F Missense 4/11 - 2
10-90668464-T-G c.254T>G p.F85C Missense 4/11 - 1
10-90668479-C-T c.269C>T p.P90L Missense 4/11 - 2
10-90668482-A-C c.272A>C p.N91T Missense 4/11 - 1
10-90668488-G-A c.278G>A p.R93Q Missense 4/11 - 2
10-90668488-GA-AT c.278_279delinsAT p.R93H Missense 4/11 - 1
10-90668490-G-A c.280G>A p.D94N Missense 4/11 - 1
10-90668501-A-G c.291A>G p.Q97= Synonymous 4/11 - 1
10-90668503-G-A c.293G>A p.C98Y Missense 4/11 - 4
10-90668505-G-A c.295G>A p.A99T Missense 4/11 - 1
10-90668513-T-C c.303T>C p.P101= Synonymous 4/11 - 1
10-90668514-G-A c.304G>A p.E102K Missense 4/11 - 2
10-90668527-T-A c.317T>A p.I106N Missense 4/11 - 1
10-90668528-T-A c.318T>A p.I106= Synonymous 4/11 - 1
10-90668528-T-C c.318T>C p.I106= Synonymous 4/11 - 1
10-90668531-G-A c.321G>A p.M107I Missense 4/11 - 1
10-90668531-G-C c.321G>C p.M107I Missense 4/11 - 1
10-90668531-G-T c.321G>T p.M107I Missense 4/11 - 1
10-90668633-A-T c.324+99A>T - IntronicSNV - 4/10 1
10-90670677-T-C c.329T>C p.L110P Missense 5/11 - 2
10-90670695-C-A c.347C>A p.P116Q Missense 5/11 - 1
10-90670699-G-T c.351G>T p.R117S Missense 5/11 - 1
10-90670705-T-C c.357T>C p.D119= Synonymous 5/11 - 1
10-90670711-G-A c.363G>A p.L121= Synonymous 5/11 - 1
10-90670711-G-T c.363G>T p.L121F Missense 5/11 - 1
10-90670711-G-GA c.368dup p.N123Kfs*8 Frameshift 5/11 - 1
10-90670717-C-T c.369C>T p.N123= Synonymous 5/11 - 4
10-90670718-G-A c.370G>A p.D124N Missense 5/11 - 3
10-90670728-A-G c.380A>G p.K127R Missense 5/11 - 1
10-90670738-C-T c.390C>T p.N130= Synonymous 5/11 - 3
10-90670739-G-A c.391G>A p.V131I Missense 5/11 - 4
10-90670745-T-A c.397T>A p.Y133N Missense 5/11 - 2
10-90670753-A-C c.405A>C p.E135D Missense 5/11 - 1
10-90670753-A-T c.405A>T p.E135D Missense 5/11 - 1
10-90670759-G-A c.411G>A p.L137= Synonymous 5/11 - 1
10-90670767-A-G c.419A>G p.K140R Missense 5/11 - 1
10-90671750-G-C c.420+982G>C - IntronicSNV - 5/10 1
10-90671750-G-T c.420+982G>T - IntronicSNV - 5/10 1
10-90672862-A-C c.425A>C p.K142T Missense 6/11 - 1
10-90672860-CA-C c.426del p.K142Nfs*15 Frameshift 6/11 - 1
10-90672864-T-C c.427T>C p.Y143H Missense 6/11 - 2
10-90672873-G-A c.436G>A p.E146K Missense 6/11 - 1
10-90672873-G-T c.436G>T p.E146* Nonsense 6/11 - 1
10-90672879-C-A c.442C>A p.L148I Missense 6/11 - 1
10-90672879-C-T c.442C>T p.L148F Missense 6/11 - 4
10-90672881-C-A c.444C>A p.L148= Synonymous 6/11 - 2
10-90672881-C-G c.444C>G p.L148= Synonymous 6/11 - 3
10-90672881-C-T c.444C>T p.L148= Synonymous 6/11 - 4
10-90672894-C-T c.457C>T p.H153Y Missense 6/11 - 1
10-90672899-G-C c.462G>C p.Q154H Missense 6/11 - 1
10-90672899-G-T c.462G>T p.Q154H Missense 6/11 - 1
10-90672901-G-A c.464G>A p.R155K Missense 6/11 - 1
10-90672901-G-T c.464G>T p.R155I Missense 6/11 - 1
10-90672905-G-T c.468G>T p.L156F Missense 6/11 - 1
10-90672913-C-A c.476C>A p.A159E Missense 6/11 - 1
10-90672919-GGAA-G c.484_486del p.K162del InFrameDeletion 6/11 - 1
10-90672924-C-A c.487C>A p.R163= Synonymous 6/11 - 1
10-90672924-C-T c.487C>T p.R163W Missense 6/11 - 2
10-90672926-G-A c.489G>A p.R163= Synonymous 6/11 - 1
10-90672926-G-C c.489G>C p.R163= Synonymous 6/11 - 1
10-90672926-G-T c.489G>T p.R163= Synonymous 6/11 - 1
10-90672925-G-A c.488G>A p.R163Q Missense 6/11 - 1
10-90672927-A-C c.490A>C p.I164L Missense 6/11 - 1
10-90672931-C-A c.494C>A p.A165D Missense 6/11 - 1
10-90672932-T-A c.495T>A p.A165= Synonymous 6/11 - 1
10-90672932-T-C c.495T>C p.A165= Synonymous 6/11 - 1
10-90672932-T-G c.495T>G p.A165= Synonymous 6/11 - 1
10-90672933-C-T c.496C>T p.Q166* Nonsense 6/11 - 1
10-90672943-A-G c.506A>G p.Q169R Missense 6/11 - 1
10-90672944-G-A c.507G>A p.Q169= Synonymous 6/11 - 1
10-90672945-C-T c.508C>T p.Q170* Nonsense 6/11 - 1
10-90672950-G-T c.513G>T p.Q171H Missense 6/11 - 1
10-90672957-TCG-GAC c.520_522delinsGAC p.S174D Missense 6/11 - 1
10-90672958-C-T c.521C>T p.S174L Missense 6/11 - 1
10-90672963-C-A c.526C>A p.Q176K Missense 6/11 - 1
10-90672969-C-T c.532C>T p.L178= Synonymous 6/11 - 1
10-90672972-T-C c.535T>C p.F179L Missense 6/11 - 1
10-90672978-G-A c.541G>A p.E181K Missense 6/11 - 5
10-90672979-A-G c.542A>G p.E181G Missense 6/11 - 1
10-90672991-A-G c.554A>G p.K185R Missense 6/11 - 1
10-90672994-A-G c.557A>G p.K186R Missense 6/11 - 1
10-90673000-A-C c.563A>C p.E188A Missense 6/11 - 1
10-90673007-C-T c.570C>T p.A190= Synonymous 6/11 - 1
10-90673009-G-A c.572G>A p.R191Q Missense 6/11 - 2
10-90673019-G-A c.582G>A p.M194I Missense 6/11 - 1
10-90673019-G-C c.582G>C p.M194I Missense 6/11 - 1
10-90673019-G-T c.582G>T p.M194I Missense 6/11 - 1
10-90673020-CGA-ATG c.583_585delinsATG p.R195M Missense 6/11 - 1
10-90673021-G-A c.584G>A p.R195Q Missense 6/11 - 2
10-90673024-G-A c.587G>A p.S196N Missense 6/11 - 18
10-90673024-G-T c.587G>T p.S196I Missense 6/11 - 3
10-90673025-T-C c.588T>C p.S196= Synonymous 6/11 - 1
10-90673029-C-G c.592C>G p.Q198E Missense 6/11 - 1
10-90673040-G-A c.603G>A p.G201= Synonymous 6/11 - 1
10-90673040-G-C c.603G>C p.G201= Synonymous 6/11 - 1
10-90673040-G-T c.603G>T p.G201= Synonymous 6/11 - 1
10-90673042-T-C c.605T>C p.L202P Missense 6/11 - 1
10-90673047-G-A c.610G>A p.E204K Missense 6/11 - 16
10-90673049-G-A c.612G>A p.E204= Synonymous 6/11 - 1
10-90673055-T-A c.618T>A p.I206= Synonymous 6/11 - 3
10-90673055-T-C c.618T>C p.I206= Synonymous 6/11 - 3
10-90673056-G-T c.619G>T p.D207Y Missense 6/11 - 1
10-90673061-G-A c.624G>A p.G208= Synonymous 6/11 - 1
10-90673061-G-C c.624G>C p.G208= Synonymous 6/11 - 1
10-90673061-G-T c.624G>T p.G208= Synonymous 6/11 - 1
10-90673064-C-T c.627C>T p.S209= Synonymous 6/11 - 2
10-90673065-G-A c.628G>A p.A210T Missense 6/11 - 7
10-90673065-G-C c.628G>C p.A210P Missense 6/11 - 1
10-90673070-G-A c.633G>A p.L211= Synonymous 6/11 - 2
10-90673091-G-A c.654G>A p.Q218= Synonymous 6/11 - 1
10-90673100-C-T c.663C>T p.S221= Synonymous 6/11 - 3
10-90673105-T-C c.668T>C p.L223P Missense 6/11 - 1
10-90673106-G-A c.669G>A p.L223= Synonymous 6/11 - 1
10-90673110-G-A c.673G>A p.V225I Missense 6/11 - 1
10-90673122-C-A c.685C>A p.Q229K Missense 6/11 - 1
10-90673124-A-C c.687A>C p.Q229H Missense 6/11 - 1
10-90673124-A-T c.687A>T p.Q229H Missense 6/11 - 1
10-90673126-C-T c.689C>T p.P230L Missense 6/11 - 1
10-90673129-A-G c.692A>G p.N231S Missense 6/11 - 1
10-90673131-A-C c.694A>C p.K232Q Missense 6/11 - 1
10-90673140-G-T c.703G>T p.A235S Missense 6/11 - 1
10-90673150-A-C c.713A>C p.Y238S Missense 6/11 - 1
10-90673156-G-A c.719G>A p.S240N Missense 6/11 - 6
10-90673156-G-C c.719G>C p.S240T Missense 6/11 - 1
10-90673158-C-T c.721C>T p.H241Y Missense 6/11 - 1
10-90673163-T-A c.726T>A p.S242= Synonymous 6/11 - 1
10-90673163-T-C c.726T>C p.S242= Synonymous 6/11 - 1
10-90673163-T-G c.726T>G p.S242= Synonymous 6/11 - 1
10-90673164-C-T c.727C>T p.P243S Missense 6/11 - 5
10-90673167-C-T c.730C>T p.P244S Missense 6/11 - 3
10-90673176-A-T c.739A>T p.R247W Missense 6/11 - 1
10-90673186-C-T c.749C>T p.T250M Missense 6/11 - 1
10-90673187-G-A c.750G>A p.T250= Synonymous 6/11 - 1
10-90673187-G-T c.750G>T p.T250= Synonymous 6/11 - 1
10-90673189-C-T c.752C>T p.P251L Missense 6/11 - 1
10-90673195-C-A c.758C>A p.A253D Missense 6/11 - 1
10-90673198-C-T c.761C>T p.T254I Missense 6/11 - 1
10-90673203-A-G c.766A>G p.S256G Missense 6/11 - 3
10-90673203-A-T c.766A>T p.S256C Missense 6/11 - 1
10-90673204-G-A c.767G>A p.S256N Missense 6/11 - 2
10-90674251-A-C c.779-40A>C - IntronicSNV - 6/10 3
10-90674251-A-G c.779-40A>G - IntronicSNV - 6/10 3
10-90674291-AT-A c.782del p.L261* Frameshift 7/11 - 1
10-90674306-G-A c.794G>A p.G265E Missense 7/11 - 2
10-90674311-C-T c.799C>T p.R267* Nonsense 7/11 - 2
10-90674317-G-A c.805G>A p.V269I Missense 7/11 - 1
10-90674320-G-A c.808G>A p.V270I Missense 7/11 - 1
10-90674327-CAGA-C c.819_821del p.E273del InFrameDeletion 7/11 - 3
10-90674333-A-T c.821A>T p.D274V Missense 7/11 - 2
10-90674345-A-C c.833A>C p.K278T Missense 7/11 - 1
10-90674345-A-G c.833A>G p.K278R Missense 7/11 - 2
10-90674350-C-T c.838C>T p.L280= Synonymous 7/11 - 4
10-90674352-G-A c.840G>A p.L280= Synonymous 7/11 - 3
10-90674352-G-C c.840G>C p.L280= Synonymous 7/11 - 3
10-90674352-G-T c.840G>T p.L280= Synonymous 7/11 - 3
10-90674362-G-T c.850G>T p.E284* Nonsense 7/11 - 1
10-90674368-A-T c.856A>T p.N286Y Missense 7/11 - 1
10-90674371-A-G c.859A>G p.T287A Missense 7/11 - 1
10-90674371-A-T c.859A>T p.T287S Missense 7/11 - 1
10-90674374-G-A c.862G>A p.V288M Missense 7/11 - 1
10-90674382-A-C c.870A>C p.G290= Synonymous 7/11 - 1
10-90674386-G-T c.874G>T p.E292* Nonsense 7/11 - 1
10-90674387-A-C c.875A>C p.E292A Missense 7/11 - 3
10-90674391-C-T c.879C>T p.T293= Synonymous 7/11 - 1
10-90674395-G-T c.883G>T p.G295* Nonsense 7/11 - 3
10-90674400-A-C c.888A>C p.I296= Synonymous 7/11 - 1
10-90674409-A-AT c.897_898insT p.K300* Nonsense 7/11 - 1
10-90674416-G-T c.903+1G>T - IntronicSNV - 7/10 1
10-90674434-A-AATATAAAT c.903+24_903+25insAATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATAT c.903+24_903+25insAATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATAT c.903+24_903+25insAATATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATATAT c.903+24_903+25insAATATATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATATATAT c.903+24_903+25insAATATATATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATATATATAT c.903+24_903+25insAATATATATATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATATATATATAT c.903+24_903+25insAATATATATATATATATATA - IntronicInsertion - 7/10 2
10-90674434-A-AATATAAATATATATATATATAT c.903+24_903+25insAATATATATATATATATATATA - IntronicInsertion - 7/10 2
10-90674436-T-TATAA c.903+24_903+25insAATA - IntronicInsertion - 7/10 1
10-90674434-AAT-A c.903+36_903+37del - IntronicDeletion - 7/10 2
10-90676437-A-G c.904A>G p.T302A Missense 8/11 - 1
10-90676446-G-T c.913G>T p.E305* Nonsense 8/11 - 1
10-90676453-C-A c.920C>A p.T307N Missense 8/11 - 1
10-90676455-A-G c.922A>G p.I308V Missense 8/11 - 1
10-90676464-G-A c.931G>A p.V311I Missense 8/11 - 1
10-90676486-C-A c.953C>A p.A318E Missense 8/11 - 6
10-90676486-C-T c.953C>T p.A318V Missense 8/11 - 4
10-90676496-C-A c.963C>A p.D321E Missense 8/11 - 1
10-90676508-G-A c.975G>A p.M325I Missense 8/11 - 3
10-90676508-G-C c.975G>C p.M325I Missense 8/11 - 3
10-90676508-G-T c.975G>T p.M325I Missense 8/11 - 3
10-90676517-A-C c.984A>C p.V328= Synonymous 8/11 - 1
10-90676517-A-G c.984A>G p.V328= Synonymous 8/11 - 1
10-90676517-A-T c.984A>T p.V328= Synonymous 8/11 - 1
10-90676542-C-T c.1009C>T p.Q337* Nonsense 8/11 - 1
10-90676554-C-A c.1021C>A p.L341I Missense 8/11 - 3
10-90676556-C-T c.1023C>T p.L341= Synonymous 8/11 - 2
10-90676571-C-T c.1038C>T p.I346= Synonymous 8/11 - 1
10-90676572-C-T c.1039C>T p.H347Y Missense 8/11 - 2
10-90676611-G-C c.1041+37G>C - IntronicSNV - 8/10 1
10-90676671-T-A c.1041+97T>A - IntronicSNV - 8/10 3
10-90677813-T-A c.1041+1239T>A - IntronicSNV - 8/10 1
10-90678464-C-T c.1041+1890C>T - IntronicSNV - 8/10 1
10-90681048-C-A c.1050C>A p.P350= Synonymous 9/11 - 1
10-90681048-C-G c.1050C>G p.P350= Synonymous 9/11 - 1
10-90681048-C-T c.1050C>T p.P350= Synonymous 9/11 - 3
10-90681066-TA-T c.1068del p.L356Ffs*70 Frameshift 9/11 - 1
10-90681073-G-A c.1075G>A p.V359I Missense 9/11 - 1
10-90681076-G-T c.1078G>T p.D360Y Missense 9/11 - 1
10-90681077-A-C c.1079A>C p.D360A Missense 9/11 - 1
10-90681077-A-G c.1079A>G p.D360G Missense 9/11 - 1
10-90681117-G-T c.1119G>T p.E373D Missense 9/11 - 1
10-90681119-C-T c.1121C>T p.A374V Missense 9/11 - 1
10-90681123-T-G c.1125T>G p.I375M Missense 9/11 - 1
10-90681128-T-C c.1130T>C p.I377T Missense 9/11 - 1
10-90681139-C-CAA c.1141_1142insAA p.P381Qfs*46 Frameshift 9/11 - 1
10-90681139-C-T c.1141C>T p.P381S Missense 9/11 - 1
10-90681144-G-A c.1146G>A p.K382= Synonymous 9/11 - 1
10-90681147-T-C c.1149T>C p.H383= Synonymous 9/11 - 1
10-90682096-C-G c.1157C>G p.T386S Missense 10/11 - 1
10-90682096-C-T c.1157C>T p.T386I Missense 10/11 - 1
10-90682099-G-A c.1160G>A p.G387D Missense 10/11 - 2
10-90682109-G-C c.1170G>C p.R390S Missense 10/11 - 2
10-90682109-G-T c.1170G>T p.R390S Missense 10/11 - 4
10-90682113-A-G c.1174A>G p.T392A Missense 10/11 - 1
10-90682114-C-T c.1175C>T p.T392I Missense 10/11 - 3
10-90682115-C-T c.1176C>T p.T392= Synonymous 10/11 - 1
10-90682118-T-A c.1179T>A p.N393K Missense 10/11 - 1
10-90682118-T-G c.1179T>G p.N393K Missense 10/11 - 1
10-90682131-G-C c.1192G>C p.E398Q Missense 10/11 - 1
10-90682131-G-T c.1192G>T p.E398* Nonsense 10/11 - 1
10-90682143-T-A c.1204T>A p.C402S Missense 10/11 - 1
10-90682144-G-C c.1205G>C p.C402S Missense 10/11 - 1
10-90682145-GT-G c.1206del p.C402* Frameshift 10/11 - 1
10-90682145-T-A c.1206T>A p.C402* Nonsense 10/11 - 1
10-90682146-A-G c.1207A>G p.K403E Missense 10/11 - 1
10-90682151-A-AT c.1212_1213insT p.K405* Nonsense 10/11 - 5
10-90682145-TA-T c.1214del p.K405Rfs*21 Frameshift 10/11 - 16
10-90682145-T-TA c.1214dup p.F407Lfs*55 Frameshift 10/11 - 3
10-90682156-G-T c.1217G>T p.G406V Missense 10/11 - 1
10-90682225-T-C c.1254+32T>C - IntronicSNV - 10/10 1
10-90682273-A-T c.1254+80A>T - IntronicSNV - 10/10 1
10-90682926-T-C c.1256T>C p.I419T Missense 11/11 - 1
10-90682934-C-T c.1264C>T p.H422Y Missense 11/11 - 1
10-90682943-G-T c.1273G>T p.V425L Missense 11/11 - 1
10-90682948-A-C c.1278A>C p.K426N Missense 11/11 - 1
10-90682948-A-T c.1278A>T p.K426N Missense 11/11 - 1
10-90682949-AG-A c.1279del p.D427Tfs*2 Frameshift 11/11 - 2
10-90682949-G-T c.1279G>T p.D427Y Missense 11/11 - 4
10-90682955-A-C c.1285A>C p.K429Q Missense 11/11 - 1
10-90682963-T-A c.1293T>A p.I431= Synonymous 11/11 - 1
10-90682963-T-C c.1293T>C p.I431= Synonymous 11/11 - 1
10-90682964-G-C c.1294G>C p.V432L Missense 11/11 - 1
10-90682964-G-T c.1294G>T p.V432L Missense 11/11 - 2
10-90682973-C-A c.1303C>A p.L435M Missense 11/11 - 1
10-90683056-G-T c.*75G>T - 3-UTRSNV 11/11 - 1
10-90683124-T-C c.*143T>C - 3-UTRSNV 11/11 - 11