IRAK2

IRAK2 interleukin 1 receptor associated kinase 2

Annotation transcript: NM_001570.4

714 unique variant annotations were identified in 492 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
3-10206637-C-T c.-2C>T - 5-UTRSNV 1/13 - 1
3-10206639-A-G c.1A>G p.M1? Missense 1/13 - 1
3-10206647-C-T c.9C>T p.C3= Synonymous 1/13 - 1
3-10206660-C-T c.22C>T p.L8= Synonymous 1/13 - 1
3-10206666-TCC-GAG c.28_30delinsGAG p.S10E Missense 1/13 - 1
3-10206666-TC-CT c.28_29delinsCT p.S10L Missense 1/13 - 1
3-10206666-T-G c.28T>G p.S10A Missense 1/13 - 2
3-10206667-C-G c.29C>G p.S10C Missense 1/13 - 1
3-10206670-G-T c.32G>T p.W11L Missense 1/13 - 1
3-10206671-G-C c.33G>C p.W11C Missense 1/13 - 1
3-10206671-G-T c.33G>T p.W11C Missense 1/13 - 2
3-10206674-G-T c.36G>T p.V12= Synonymous 1/13 - 1
3-10206675-C-A c.37C>A p.L13M Missense 1/13 - 1
3-10206675-CT-GC c.37_38delinsGC p.L13A Missense 1/13 - 3
3-10206678-GA-CT c.40_41delinsCT p.D14L Missense 1/13 - 1
3-10206684-C-A c.46C>A p.L16M Missense 1/13 - 1
3-10206688-G-A c.50G>A p.C17Y Missense 1/13 - 2
3-10206693-A-G c.55A>G p.N19D Missense 1/13 - 1
3-10206701-C-T c.63C>T p.D21= Synonymous 1/13 - 3
3-10206703-C-A c.65C>A p.A22E Missense 1/13 - 1
3-10206705-CT-GC c.67_68delinsGC p.L23A Missense 1/13 - 1
3-10206707-C-T c.69C>T p.L23= Synonymous 1/13 - 1
3-10206709-G-C c.71G>C p.S24T Missense 1/13 - 1
3-10206715-G-A c.77G>A p.W26* Nonsense 1/13 - 1
3-10206716-G-A c.78G>A p.W26* Nonsense 1/13 - 1
3-10206718-A-T c.80A>T p.D27V Missense 1/13 - 1
3-10206726-GA-AG c.88_89delinsAG p.E30R Missense 1/13 - 1
3-10206728-AGT-A c.90_91del p.E30Dfs*68 Frameshift 1/13 - 1
3-10206733-G-A c.94+1G>A - IntronicSNV - 1/12 1
3-10206734-T-C c.94+2T>C - IntronicSNV - 1/12 1
3-10206735-TG-T c.94+3del - IntronicDeletion - 1/12 1
3-10206755-A-G c.94+23A>G - IntronicSNV - 1/12 1
3-10206755-A-T c.94+23A>T - IntronicSNV - 1/12 1
3-10206981-G-C c.94+249G>C - IntronicSNV - 1/12 1
3-10207116-G-T c.94+384G>T - IntronicSNV - 1/12 1
3-10207296-C-T c.94+564C>T - IntronicSNV - 1/12 1
3-10212258-C-T c.94+5526C>T - IntronicSNV - 1/12 2
3-10219510-C-A c.95-12C>A - IntronicSNV - 1/12 3
3-10219510-C-G c.95-12C>G - IntronicSNV - 1/12 3
3-10219510-C-T c.95-12C>T - IntronicSNV - 1/12 3
3-10219522-C-G c.95C>G p.A32G Missense 2/13 - 1
3-10219525-C-A c.98C>A p.S33Y Missense 2/13 - 2
3-10219526-C-CT c.100dup p.Y34Lfs*65 Frameshift 2/13 - 1
3-10219529-C-T c.102C>T p.Y34= Synonymous 2/13 - 1
3-10219539-G-A c.112G>A p.D38N Missense 2/13 - 1
3-10219541-C-A c.114C>A p.D38E Missense 2/13 - 1
3-10219541-C-G c.114C>G p.D38E Missense 2/13 - 3
3-10219550-G-A c.123G>A p.Q41= Synonymous 2/13 - 3
3-10219551-C-T c.124C>T p.L42= Synonymous 2/13 - 2
3-10219553-G-A c.126G>A p.L42= Synonymous 2/13 - 2
3-10219553-G-C c.126G>C p.L42= Synonymous 2/13 - 2
3-10219553-G-T c.126G>T p.L42= Synonymous 2/13 - 2
3-10219554-CG-GC c.127_128delinsGC p.R43A Missense 2/13 - 1
3-10219554-C-T c.127C>T p.R43W Missense 2/13 - 4
3-10219555-G-A c.128G>A p.R43Q Missense 2/13 - 6
3-10219557-AA-GC c.130_131delinsGC p.K44A Missense 2/13 - 1
3-10219557-A-G c.130A>G p.K44E Missense 2/13 - 1
3-10219558-A-T c.131A>T p.K44M Missense 2/13 - 1
3-10219561-TC-GG c.134_135delinsGG p.I45R Missense 2/13 - 1
3-10219563-AA-GC c.136_137delinsGC p.K46A Missense 2/13 - 1
3-10219567-C-A c.140C>A p.S47Y Missense 2/13 - 12
3-10219575-C-A c.148C>A p.R50= Synonymous 2/13 - 1
3-10219576-G-A c.149G>A p.R50Q Missense 2/13 - 1
3-10219580-G-C c.153G>C p.V51= Synonymous 2/13 - 1
3-10219586-T-G c.159T>G p.G53= Synonymous 2/13 - 1
3-10219591-G-T c.164G>T p.S55I Missense 2/13 - 1
3-10219597-C-G c.170C>G p.T57R Missense 2/13 - 1
3-10219598-G-A c.171G>A p.T57= Synonymous 2/13 - 4
3-10219598-G-C c.171G>C p.T57= Synonymous 2/13 - 3
3-10219598-G-T c.171G>T p.T57= Synonymous 2/13 - 3
3-10219600-G-A c.173G>A p.R58Q Missense 2/13 - 2
3-10219602-G-A c.175G>A p.E59K Missense 2/13 - 1
3-10219605-C-A c.178C>A p.L60M Missense 2/13 - 1
3-10219612-G-A c.185G>A p.W62* Nonsense 2/13 - 1
3-10219614-TG-T c.189del p.W63Cfs*29 Frameshift 2/13 - 1
3-10219615-GGT-G c.190_191del p.W64Gfs*34 Frameshift 2/13 - 1
3-10219617-T-G c.190T>G p.W64G Missense 2/13 - 1
3-10219624-T-C c.197T>C p.M66T Missense 2/13 - 1
3-10219625-G-T c.198G>T p.M66I Missense 2/13 - 1
3-10219626-C-T c.199C>T p.R67W Missense 2/13 - 4
3-10219627-G-T c.200G>T p.R67L Missense 2/13 - 2
3-10219632-G-C c.205G>C p.A69P Missense 2/13 - 2
3-10219632-GC-TG c.205_206delinsTG p.A69C Missense 2/13 - 1
3-10219633-C-A c.206C>A p.A69D Missense 2/13 - 3
3-10219635-A-T c.208A>T p.T70S Missense 2/13 - 2
3-10219636-CC-AG c.209_210delinsAG p.T70K Missense 2/13 - 1
3-10219636-CC-TG c.209_210delinsTG p.T70M Missense 2/13 - 1
3-10219636-C-G c.209C>G p.T70S Missense 2/13 - 1
3-10219636-C-T c.209C>T p.T70I Missense 2/13 - 1
3-10219638-G-A c.211G>A p.V71I Missense 2/13 - 1
3-10219641-C-G c.214C>G p.Q72E Missense 2/13 - 1
3-10219647-C-T c.220C>T p.L74F Missense 2/13 - 1
3-10219647-CTT-ATG c.220_222delinsATG p.L74M Missense 2/13 - 1
3-10219650-G-C c.223G>C p.V75L Missense 2/13 - 1
3-10219650-G-T c.223G>T p.V75L Missense 2/13 - 1
3-10219653-G-A c.226G>A p.D76N Missense 2/13 - 2
3-10219654-A-G c.227A>G p.D76G Missense 2/13 - 1
3-10219659-C-A c.232C>A p.L78M Missense 2/13 - 1
3-10219660-T-C c.233T>C p.L78P Missense 2/13 - 1
3-10219664-C-A c.237C>A p.C79* Nonsense 2/13 - 1
3-10219665-CGC-AAG c.238_240delinsAAG p.R80K Missense 2/13 - 1
3-10219666-G-A c.239G>A p.R80H Missense 2/13 - 1
3-10219668-CTG-TTT c.241_243delinsTTT p.L81F Missense 2/13 - 1
3-10219674-C-T c.247C>T p.L83F Missense 2/13 - 1
3-10219676-C-G c.249C>G p.L83= Synonymous 2/13 - 2
3-10219680-C-T c.253C>T p.R85W Missense 2/13 - 1
3-10219683-G-C c.256G>C p.A86P Missense 2/13 - 1
3-10219685-T-C c.258T>C p.A86= Synonymous 2/13 - 1
3-10219689-C-T c.262C>T p.Q88* Nonsense 2/13 - 2
3-10219691-G-A c.264G>A p.Q88= Synonymous 2/13 - 1
3-10219691-G-C c.264G>C p.Q88H Missense 2/13 - 1
3-10219694-C-T c.267C>T p.I89= Synonymous 2/13 - 1
3-10219697-C-A c.270C>A p.I90= Synonymous 2/13 - 2
3-10219697-C-T c.270C>T p.I90= Synonymous 2/13 - 3
3-10219700-G-A c.273G>A p.L91= Synonymous 2/13 - 4
3-10219702-A-T c.275A>T p.N92I Missense 2/13 - 1
3-10219705-G-C c.277+1G>C - IntronicSNV - 2/12 1
3-10219707-G-A c.277+3G>A - IntronicSNV - 2/12 1
3-10219729-A-G c.277+25A>G - IntronicSNV - 2/12 3
3-10219730-G-T c.277+26G>T - IntronicSNV - 2/12 1
3-10219945-CTG-C c.277+241_277+242del - IntronicDeletion - 2/12 1
3-10222955-C-G c.277+3251C>G - IntronicSNV - 2/12 1
3-10222955-C-T c.277+3251C>T - IntronicSNV - 2/12 1
3-10222956-G-A c.277+3252G>A - IntronicSNV - 2/12 1
3-10226587-AT-A c.277+6892del - IntronicDeletion - 2/12 1
3-10227980-C-G c.277+8276C>G - IntronicSNV - 2/12 1
3-10229160-C-T c.277+9456C>T - IntronicSNV - 2/12 1
3-10237297-G-A c.278-4756G>A - IntronicSNV - 2/12 2
3-10237297-G-C c.278-4756G>C - IntronicSNV - 2/12 2
3-10237297-G-T c.278-4756G>T - IntronicSNV - 2/12 2
3-10238124-G-T c.278-3929G>T - IntronicSNV - 2/12 1
3-10241875-C-A c.278-178C>A - IntronicSNV - 2/12 1
3-10241875-C-T c.278-178C>T - IntronicSNV - 2/12 1
3-10241899-G-A c.278-154G>A - IntronicSNV - 2/12 2
3-10241975-C-G c.278-78C>G - IntronicSNV - 2/12 1
3-10241987-A-C c.278-66A>C - IntronicSNV - 2/12 3
3-10241987-A-T c.278-66A>T - IntronicSNV - 2/12 3
3-10242054-G-A c.279G>A p.W93* Nonsense 3/13 - 2
3-10242055-A-G c.280A>G p.K94E Missense 3/13 - 1
3-10242062-CT-AG c.287_288inv p.A96E Missense 3/13 - 1
3-10242064-C-G c.289C>G p.P97A Missense 3/13 - 1
3-10242070-A-G c.295A>G p.I99V Missense 3/13 - 8
3-10242072-C-A c.297C>A p.I99= Synonymous 3/13 - 1
3-10242072-C-T c.297C>T p.I99= Synonymous 3/13 - 1
3-10242074-G-T c.299G>T p.R100M Missense 3/13 - 4
3-10242081-C-T c.306C>T p.P102= Synonymous 3/13 - 1
3-10242086-C-T c.311C>T p.P104L Missense 3/13 - 1
3-10242087-A-G c.312A>G p.P104= Synonymous 3/13 - 2
3-10242104-T-C c.329T>C p.V110A Missense 3/13 - 1
3-10242108-G-A c.333G>A p.K111= Synonymous 3/13 - 1
3-10242109-C-T c.334C>T p.P112S Missense 3/13 - 1
3-10242114-A-C c.339A>C p.E113D Missense 3/13 - 1
3-10242114-A-T c.339A>T p.E113D Missense 3/13 - 1
3-10242115-A-T c.340A>T p.K114* Nonsense 3/13 - 1
3-10242116-A-C c.341A>C p.K114T Missense 3/13 - 2
3-10242117-G-C c.342G>C p.K114N Missense 3/13 - 2
3-10242117-G-T c.342G>T p.K114N Missense 3/13 - 1
3-10242119-C-T c.344C>T p.P115L Missense 3/13 - 1
3-10242124-G-A c.349G>A p.A117T Missense 3/13 - 1
3-10242129-T-A c.354T>A p.A118= Synonymous 3/13 - 1
3-10242129-T-C c.354T>C p.A118= Synonymous 3/13 - 1
3-10242129-T-G c.354T>G p.A118= Synonymous 3/13 - 1
3-10242136-AGA-TGT c.361_363delinsTGT p.R121C Missense 3/13 - 1
3-10242136-AG-GC c.361_362delinsGC p.R121A Missense 3/13 - 1
3-10242142-G-A c.367G>A p.A123T Missense 3/13 - 2
3-10242148-G-A c.373G>A p.D125N Missense 3/13 - 1
3-10242151-G-A c.376G>A p.E126K Missense 3/13 - 1
3-10242157-G-A c.382G>A p.E128K Missense 3/13 - 1
3-10242163-G-T c.388G>T p.G130W Missense 3/13 - 1
3-10242165-G-T c.390G>T p.G130= Synonymous 3/13 - 1
3-10242169-C-T c.394C>T p.P132S Missense 3/13 - 1
3-10242176-G-T c.401G>T p.R134M Missense 3/13 - 1
3-10242186-C-A c.411C>A p.T137= Synonymous 3/13 - 2
3-10242186-C-G c.411C>G p.T137= Synonymous 3/13 - 1
3-10242186-C-T c.411C>T p.T137= Synonymous 3/13 - 1
3-10242243-G-A c.424+44G>A - IntronicSNV - 3/12 4
3-10243304-G-A c.424+1105G>A - IntronicSNV - 3/12 1
3-10243333-G-A c.424+1134G>A - IntronicSNV - 3/12 1
3-10244649-C-T c.424+2450C>T - IntronicSNV - 3/12 1
3-10250783-A-G c.425-490A>G - IntronicSNV - 3/12 2
3-10251196-A-G c.425-77A>G - IntronicSNV - 3/12 4
3-10251273-G-T c.425G>T p.G142V Missense 4/13 - 1
3-10251277-C-T c.429C>T p.S143= Synonymous 4/13 - 1
3-10251279-C-T c.431C>T p.S144F Missense 4/13 - 1
3-10251280-T-A c.432T>A p.S144= Synonymous 4/13 - 1
3-10251280-T-C c.432T>C p.S144= Synonymous 4/13 - 1
3-10251280-T-G c.432T>G p.S144= Synonymous 4/13 - 1
3-10251282-C-T c.434C>T p.P145L Missense 4/13 - 4
3-10251284-G-T c.436G>T p.A146S Missense 4/13 - 1
3-10251287-A-G c.439A>G p.R147G Missense 4/13 - 1
3-10251288-G-C c.440G>C p.R147T Missense 4/13 - 7
3-10251287-A-C c.439A>C p.R147= Synonymous 4/13 - 1
3-10251289-A-G c.441A>G p.R147= Synonymous 4/13 - 1
3-10251290-G-A c.442G>A p.A148T Missense 4/13 - 8
3-10251295-C-A c.447C>A p.H149Q Missense 4/13 - 1
3-10251300-C-T c.452C>T p.P151L Missense 4/13 - 2
3-10251301-G-A c.453G>A p.P151= Synonymous 4/13 - 2
3-10251301-G-C c.453G>C p.P151= Synonymous 4/13 - 1
3-10251301-G-T c.453G>T p.P151= Synonymous 4/13 - 1
3-10251304-C-T c.456C>T p.A152= Synonymous 4/13 - 1
3-10251320-TG-T c.472del p.E158Kfs*8 Frameshift 4/13 - 1
3-10251323-G-A c.475G>A p.E159K Missense 4/13 - 2
3-10251324-A-T c.476A>T p.E159V Missense 4/13 - 1
3-10251326-G-A c.478G>A p.D160N Missense 4/13 - 1
3-10251326-G-C c.478G>C p.D160H Missense 4/13 - 2
3-10251329-G-T c.481G>T p.A161S Missense 4/13 - 1
3-10251335-C-T c.487C>T p.H163Y Missense 4/13 - 1
3-10251338-TC-T c.492del p.L165* Frameshift 4/13 - 1
3-10251340-C-A c.492C>A p.S164= Synonymous 4/13 - 1
3-10251340-C-G c.492C>G p.S164= Synonymous 4/13 - 8
3-10251340-C-T c.492C>T p.S164= Synonymous 4/13 - 1
3-10251344-AG-CA c.496_497delinsCA p.R166Q Missense 4/13 - 1
3-10251347-AG-GC c.499_500delinsGC p.S167A Missense 4/13 - 1
3-10251350-G-A c.502G>A p.D168N Missense 4/13 - 2
3-10251357-C-T c.509C>T p.P170L Missense 4/13 - 4
3-10251363-C-T c.515C>T p.S172L Missense 4/13 - 6
3-10251489-A-G c.528+113A>G - IntronicSNV - 4/12 1
3-10251527-G-GT c.528+152dup - IntronicInsertion - 4/12 1
3-10254162-A-G c.529-729A>G - IntronicSNV - 4/12 1
3-10254176-T-C c.529-715T>C - IntronicSNV - 4/12 1
3-10254891-G-A c.529G>A p.D177N Missense 5/13 - 1
3-10254900-A-G c.538A>G p.T180A Missense 5/13 - 1
3-10254908-T-C c.546T>C p.I182= Synonymous 5/13 - 1
3-10254909-C-G c.547C>G p.P183A Missense 5/13 - 1
3-10254914-G-C c.552G>C p.K184N Missense 5/13 - 1
3-10254914-G-T c.552G>T p.K184N Missense 5/13 - 1
3-10254917-G-GT c.555_556insT p.E186* Nonsense 5/13 - 1
3-10254918-G-A c.556G>A p.E186K Missense 5/13 - 2
3-10254924-C-T c.562C>T p.L188F Missense 5/13 - 1
3-10254928-T-C c.566T>C p.L189S Missense 5/13 - 1
3-10254937-C-T c.575C>T p.A192V Missense 5/13 - 1
3-10254939-G-A c.577G>A p.G193R Missense 5/13 - 3
3-10254939-G-C c.577G>C p.G193R Missense 5/13 - 2
3-10254947-C-T c.585C>T p.S195= Synonymous 5/13 - 1
3-10254963-G-A c.601G>A p.A201T Missense 5/13 - 2
3-10254964-C-T c.602C>T p.A201V Missense 5/13 - 6
3-10254968-C-T c.606C>T p.D202= Synonymous 5/13 - 2
3-10254969-G-A c.607G>A p.V203M Missense 5/13 - 5
3-10254972-G-T c.610G>T p.V204F Missense 5/13 - 2
3-10254974-C-A c.612C>A p.V204= Synonymous 5/13 - 1
3-10254974-C-G c.612C>G p.V204= Synonymous 5/13 - 2
3-10254974-C-T c.612C>T p.V204= Synonymous 5/13 - 1
3-10254979-C-T c.617C>T p.A206V Missense 5/13 - 6
3-10254982-C-T c.620C>T p.T207I Missense 5/13 - 2
3-10254984-G-A c.622G>A p.D208N Missense 5/13 - 6
3-10254992-C-T c.630C>T p.F210= Synonymous 5/13 - 1
3-10254996-C-G c.634C>G p.Q212E Missense 5/13 - 1
3-10254996-C-T c.634C>T p.Q212* Nonsense 5/13 - 1
3-10255001-C-T c.639C>T p.N213= Synonymous 5/13 - 2
3-10255002-C-G c.640C>G p.R214G Missense 5/13 - 16
3-10255002-C-T c.640C>T p.R214C Missense 5/13 - 3
3-10255003-G-A c.641G>A p.R214H Missense 5/13 - 2
3-10255004-C-A c.642C>A p.R214= Synonymous 5/13 - 1
3-10255004-C-G c.642C>G p.R214= Synonymous 5/13 - 1
3-10255004-C-T c.642C>T p.R214= Synonymous 5/13 - 1
3-10255009-T-C c.647T>C p.I216T Missense 5/13 - 1
3-10255009-T-G c.647T>G p.I216S Missense 5/13 - 2
3-10255021-C-T c.659C>T p.T220I Missense 5/13 - 1
3-10255032-G-A c.670G>A p.V224I Missense 5/13 - 1
3-10255037-C-A c.675C>A p.Y225* Nonsense 5/13 - 1
3-10255039-G-A c.677G>A p.R226K Missense 5/13 - 1
3-10255041-GGG-AGC c.679_681delinsAGC p.G227S Missense 5/13 - 1
3-10255043-G-T c.681G>T p.G227= Synonymous 5/13 - 1
3-10255044-C-T c.682C>T p.H228Y Missense 5/13 - 6
3-10255045-A-T c.683A>T p.H228L Missense 5/13 - 1
3-10255048-G-T c.686G>T p.R229M Missense 5/13 - 1
3-10255051-A-G c.689A>G p.H230R Missense 5/13 - 1
3-10255052-C-T c.690C>T p.H230= Synonymous 5/13 - 2
3-10255053-G-A c.691G>A p.G231R Missense 5/13 - 1
3-10255053-G-C c.691G>C p.G231R Missense 5/13 - 1
3-10255054-G-T c.692G>T p.G231V Missense 5/13 - 1
3-10255055-G-A c.693G>A p.G231= Synonymous 5/13 - 3
3-10255058-G-A c.696G>A p.K232= Synonymous 5/13 - 4
3-10255065-G-A c.703G>A p.V235I Missense 5/13 - 1
3-10255071-AA-GC c.709_710delinsGC p.K237A Missense 5/13 - 3
3-10255072-A-C c.710A>C p.K237T Missense 5/13 - 1
3-10255074-AA-GC c.712_713delinsGC p.K238A Missense 5/13 - 1
3-10255076-G-A c.714G>A p.K238= Synonymous 5/13 - 1
3-10255076-G-C c.714G>C p.K238N Missense 5/13 - 1
3-10255079-C-A c.717C>A p.L239= Synonymous 5/13 - 1
3-10255079-C-G c.717C>G p.L239= Synonymous 5/13 - 1
3-10255079-C-T c.717C>T p.L239= Synonymous 5/13 - 1
3-10255106-A-T c.723+21A>T - IntronicSNV - 5/12 1
3-10255117-A-T c.723+32A>T - IntronicSNV - 5/12 1
3-10255124-A-T c.723+39A>T - IntronicSNV - 5/12 1
3-10255169-C-A c.725C>A p.T242K Missense 6/13 - 1
3-10255169-C-T c.725C>T p.T242I Missense 6/13 - 1
3-10255171-G-A c.727G>A p.A243T Missense 6/13 - 1
3-10255175-G-T c.731G>T p.C244F Missense 6/13 - 4
3-10255177-T-A c.733T>A p.S245T Missense 6/13 - 1
3-10255183-C-G c.739C>G p.P247A Missense 6/13 - 1
3-10255186-G-T c.742G>T p.G248* Nonsense 6/13 - 1
3-10255187-G-A c.743G>A p.G248E Missense 6/13 - 1
3-10255187-G-C c.743G>C p.G248A Missense 6/13 - 1
3-10255190-C-T c.746C>T p.S249L Missense 6/13 - 2
3-10255192-A-G c.748A>G p.I250V Missense 6/13 - 1
3-10255193-T-C c.749T>C p.I250T Missense 6/13 - 1
3-10255194-C-T c.750C>T p.I250= Synonymous 6/13 - 1
3-10255195-G-A c.751G>A p.E251K Missense 6/13 - 7
3-10255199-G-T c.755G>T p.R252I Missense 6/13 - 4
3-10255210-G-A c.766G>A p.A256T Missense 6/13 - 1
3-10255211-C-G c.767C>G p.A256G Missense 6/13 - 1
3-10255211-C-T c.767C>T p.A256V Missense 6/13 - 1
3-10255215-G-A c.771G>A p.E257= Synonymous 6/13 - 4
3-10255215-GT-G c.773del p.L258Cfs*112 Frameshift 6/13 - 1
3-10255219-C-A c.775C>A p.Q259K Missense 6/13 - 1
3-10255222-A-T c.778A>T p.I260F Missense 6/13 - 1
3-10255228-C-G c.784C>G p.L262V Missense 6/13 - 1
3-10255978-T-C c.788+746T>C - IntronicSNV - 6/12 1
3-10256096-G-T c.788+864G>T - IntronicSNV - 6/12 1
3-10256915-A-T c.788+1683A>T - IntronicSNV - 6/12 1
3-10257768-C-T c.789-850C>T - IntronicSNV - 6/12 2
3-10258493-T-C c.789-125T>C - IntronicSNV - 6/12 1
3-10258514-T-C c.789-104T>C - IntronicSNV - 6/12 1
3-10258579-C-T c.789-39C>T - IntronicSNV - 6/12 2
3-10258615-C-T c.789-3C>T - IntronicSNV - 6/12 1
3-10258621-C-A c.792C>A p.C264* Nonsense 7/13 - 2
3-10258622-T-C c.793T>C p.C265R Missense 7/13 - 1
3-10258628-C-T c.799C>T p.P267S Missense 7/13 - 1
3-10258629-C-T c.800C>T p.P267L Missense 7/13 - 1
3-10258626-AC-A c.801del p.N268Mfs*102 Frameshift 7/13 - 1
3-10258630-CA-C c.803del p.N268Mfs*102 Frameshift 7/13 - 2
3-10258638-T-C c.809T>C p.L270S Missense 7/13 - 1
3-10258641-C-T c.812C>T p.P271L Missense 7/13 - 2
3-10258643-G-A c.814G>A p.V272M Missense 7/13 - 1
3-10258647-T-C c.818T>C p.L273P Missense 7/13 - 1
3-10258646-C-T c.817C>T p.L273= Synonymous 7/13 - 2
3-10258648-G-A c.819G>A p.L273= Synonymous 7/13 - 1
3-10258648-G-C c.819G>C p.L273= Synonymous 7/13 - 1
3-10258648-G-T c.819G>T p.L273= Synonymous 7/13 - 1
3-10258654-C-T c.825C>T p.F275= Synonymous 7/13 - 1
3-10258668-A-G c.839A>G p.Q280R Missense 7/13 - 1
3-10258670-T-C c.841T>C p.F281L Missense 7/13 - 1
3-10258672-T-A c.843T>A p.F281L Missense 7/13 - 1
3-10258672-T-G c.843T>G p.F281L Missense 7/13 - 1
3-10258684-C-A c.855C>A p.I285= Synonymous 7/13 - 2
3-10258684-C-T c.855C>T p.I285= Synonymous 7/13 - 3
3-10258686-A-G c.857A>G p.Y286C Missense 7/13 - 2
3-10258687-C-T c.858C>T p.Y286= Synonymous 7/13 - 2
3-10258688-C-A c.859C>A p.P287T Missense 7/13 - 1
3-10258697-G-A c.868G>A p.A290T Missense 7/13 - 1
3-10258699-A-G c.870A>G p.A290= Synonymous 7/13 - 1
3-10258703-G-A c.874G>A p.G292S Missense 7/13 - 1
3-10258702-TG-T c.875del p.G292Vfs*78 Frameshift 7/13 - 1
3-10258704-G-A c.875G>A p.G292D Missense 7/13 - 1
3-10258705-T-C c.876T>C p.G292= Synonymous 7/13 - 2
3-10258728-G-A c.899G>A p.G300D Missense 7/13 - 1
3-10258730-C-T c.901C>T p.Q301* Nonsense 7/13 - 5
3-10258737-G-A c.903+5G>A - IntronicSNV - 7/12 1
3-10258762-G-C c.903+30G>C - IntronicSNV - 7/12 5
3-10258762-G-T c.903+30G>T - IntronicSNV - 7/12 4
3-10258786-G-A c.903+54G>A - IntronicSNV - 7/12 1
3-10259317-T-C c.903+585T>C - IntronicSNV - 7/12 1
3-10259908-C-A c.903+1176C>A - IntronicSNV - 7/12 1
3-10259908-C-G c.903+1176C>G - IntronicSNV - 7/12 1
3-10261237-A-C c.904-127A>C - IntronicSNV - 7/12 1
3-10261237-A-T c.904-127A>T - IntronicSNV - 7/12 1
3-10261248-T-A c.904-116T>A - IntronicSNV - 7/12 1
3-10261248-T-C c.904-116T>C - IntronicSNV - 7/12 1
3-10261294-A-G c.904-70A>G - IntronicSNV - 7/12 3
3-10261294-A-T c.904-70A>T - IntronicSNV - 7/12 3
3-10261295-C-A c.904-69C>A - IntronicSNV - 7/12 1
3-10261295-C-T c.904-69C>T - IntronicSNV - 7/12 1
3-10261329-G-A c.904-35G>A - IntronicSNV - 7/12 2
3-10261329-G-T c.904-35G>T - IntronicSNV - 7/12 2
3-10261365-G-A c.905G>A p.G302D Missense 8/13 - 1
3-10261368-GC-AG c.908_909delinsAG p.G303E Missense 8/13 - 2
3-10261371-C-T c.911C>T p.S304L Missense 8/13 - 2
3-10261372-G-A c.912G>A p.S304= Synonymous 8/13 - 2
3-10261372-G-C c.912G>C p.S304= Synonymous 8/13 - 1
3-10261372-G-T c.912G>T p.S304= Synonymous 8/13 - 1
3-10261380-T-C c.920T>C p.L307P Missense 8/13 - 2
3-10261383-C-T c.923C>T p.P308L Missense 8/13 - 3
3-10261384-C-A c.924C>A p.P308= Synonymous 8/13 - 1
3-10261384-C-G c.924C>G p.P308= Synonymous 8/13 - 1
3-10261384-C-T c.924C>T p.P308= Synonymous 8/13 - 1
3-10261392-A-G c.932A>G p.Q311R Missense 8/13 - 1
3-10261394-C-G c.934C>G p.R312G Missense 8/13 - 1
3-10261394-C-T c.934C>T p.R312C Missense 8/13 - 3
3-10261395-G-A c.935G>A p.R312H Missense 8/13 - 1
3-10261395-GT-AA c.935_936delinsAA p.R312Q Missense 8/13 - 1
3-10261400-AG-CT c.940_941inv p.S314L Missense 8/13 - 1
3-10261401-G-A c.941G>A p.S314N Missense 8/13 - 2
3-10261402-C-T c.942C>T p.S314= Synonymous 8/13 - 1
3-10261405-C-G c.945C>G p.I315M Missense 8/13 - 1
3-10261405-C-T c.945C>T p.I315= Synonymous 8/13 - 1
3-10261413-G-A c.953G>A p.G318E Missense 8/13 - 1
3-10261425-C-T c.965C>T p.A322V Missense 8/13 - 1
3-10261426-C-A c.966C>A p.A322= Synonymous 8/13 - 1
3-10261426-C-G c.966C>G p.A322= Synonymous 8/13 - 1
3-10261426-C-T c.966C>T p.A322= Synonymous 8/13 - 1
3-10261430-G-A c.970G>A p.E324K Missense 8/13 - 1
3-10261445-C-G c.985C>G p.L329V Missense 8/13 - 3
3-10261447-G-A c.987G>A p.L329= Synonymous 8/13 - 1
3-10261447-G-GA c.987_988insA p.E330Rfs*11 Frameshift 8/13 - 1
3-10261453-C-A c.993C>A p.I331= Synonymous 8/13 - 1
3-10261453-C-T c.993C>T p.I331= Synonymous 8/13 - 2
3-10261456-C-A c.996C>A p.I332= Synonymous 8/13 - 4
3-10261456-C-T c.996C>T p.I332= Synonymous 8/13 - 3
3-10261457-C-A c.997C>A p.H333N Missense 8/13 - 1
3-10261460-A-T c.1000A>T p.S334C Missense 8/13 - 1
3-10261466-G-A c.1006G>A p.V336I Missense 8/13 - 2
3-10261547-T-C c.1013+74T>C - IntronicSNV - 8/12 1
3-10261594-C-T c.1013+121C>T - IntronicSNV - 8/12 1
3-10261689-G-A c.1013+216G>A - IntronicSNV - 8/12 1
3-10261689-G-C c.1013+216G>C - IntronicSNV - 8/12 1
3-10262367-C-A c.1013+894C>A - IntronicSNV - 8/12 1
3-10262367-C-G c.1013+894C>G - IntronicSNV - 8/12 1
3-10262777-TA-T c.1013+1310del - IntronicDeletion - 8/12 1
3-10262893-G-A c.1013+1420G>A - IntronicSNV - 8/12 1
3-10262893-G-C c.1013+1420G>C - IntronicSNV - 8/12 1
3-10262893-G-T c.1013+1420G>T - IntronicSNV - 8/12 1
3-10264299-C-T c.1014-21C>T - IntronicSNV - 8/12 5
3-10264322-C-T c.1016C>T p.S339F Missense 9/13 - 1
3-10264330-T-G c.1024T>G p.L342V Missense 9/13 - 3
3-10264336-G-A c.1030G>A p.D344N Missense 9/13 - 1
3-10264337-A-C c.1031A>C p.D344A Missense 9/13 - 1
3-10264338-C-T c.1032C>T p.D344= Synonymous 9/13 - 1
3-10264347-C-T c.1041C>T p.L347= Synonymous 9/13 - 1
3-10264352-C-T c.1046C>T p.P349L Missense 9/13 - 2
3-10264355-A-C c.1049A>C p.K350T Missense 9/13 - 3
3-10264358-T-G c.1052T>G p.L351R Missense 9/13 - 1
3-10264360-G-A c.1054G>A p.A352T Missense 9/13 - 1
3-10264363-C-T c.1057C>T p.H353Y Missense 9/13 - 3
3-10264365-C-A c.1059C>A p.H353Q Missense 9/13 - 1
3-10264369-A-G c.1063A>G p.M355V Missense 9/13 - 1
3-10264378-C-A c.1072C>A p.L358M Missense 9/13 - 1
3-10264384-C-T c.1078C>T p.P360S Missense 9/13 - 1
3-10264385-C-A c.1079C>A p.P360H Missense 9/13 - 3
3-10264388-T-G c.1082T>G p.V361G Missense 9/13 - 1
3-10264389-C-A c.1083C>A p.V361= Synonymous 9/13 - 1
3-10264389-C-G c.1083C>G p.V361= Synonymous 9/13 - 1
3-10264389-C-T c.1083C>T p.V361= Synonymous 9/13 - 1
3-10264392-CA-C c.1090del p.R364Gfs*6 Frameshift 9/13 - 1
3-10264396-AG-CA c.1090_1091delinsCA p.R364Q Missense 9/13 - 1
3-10264399-T-G c.1093T>G p.S365A Missense 9/13 - 1
3-10264402-A-G c.1096A>G p.K366E Missense 9/13 - 1
3-10264403-A-T c.1097A>T p.K366I Missense 9/13 - 1
3-10264409-C-T c.1103C>T p.T368I Missense 9/13 - 3
3-10264410-CATG-C c.1109_1111del p.M370del InFrameDeletion 9/13 - 1
3-10264416-G-A c.1110G>A p.M370I Missense 9/13 - 1
3-10264419-G-A c.1113G>A p.K371= Synonymous 9/13 - 1
3-10264425-C-T c.1119C>T p.H373= Synonymous 9/13 - 1
3-10264432-C-T c.1126C>T p.R376W Missense 9/13 - 2
3-10264436-C-T c.1130C>T p.T377M Missense 9/13 - 1
3-10264437-G-A c.1131G>A p.T377= Synonymous 9/13 - 1
3-10264437-G-C c.1131G>C p.T377= Synonymous 9/13 - 1
3-10264437-G-T c.1131G>T p.T377= Synonymous 9/13 - 1
3-10264438-T-C c.1132T>C p.S378P Missense 9/13 - 1
3-10264444-G-A c.1138G>A p.A380T Missense 9/13 - 2
3-10264445-C-T c.1139C>T p.A380V Missense 9/13 - 1
3-10264454-C-T c.1148C>T p.P383L Missense 9/13 - 2
3-10264456-G-A c.1150G>A p.E384K Missense 9/13 - 4
3-10264458-G-T c.1152G>T p.E384D Missense 9/13 - 1
3-10264462-T-A c.1156T>A p.F386I Missense 9/13 - 1
3-10264460-AT-A c.1157del p.F386Sfs*7 Frameshift 9/13 - 1
3-10264464-C-T c.1158C>T p.F386= Synonymous 9/13 - 5
3-10264467-C-A c.1161C>A p.I387= Synonymous 9/13 - 1
3-10264467-C-T c.1161C>T p.I387= Synonymous 9/13 - 1
3-10264468-C-T c.1162C>T p.R388W Missense 9/13 - 6
3-10264469-G-A c.1163G>A p.R388Q Missense 9/13 - 3
3-10264477-C-A c.1171C>A p.Q391K Missense 9/13 - 1
3-10264477-GC-G c.1171del p.Q391Sfs*2 Frameshift 9/13 - 1
3-10264480-C-G c.1174C>G p.L392V Missense 9/13 - 41
3-10264481-T-G c.1175T>G p.L392R Missense 9/13 - 3
3-10264480-C-T c.1174C>T p.L392= Synonymous 9/13 - 1
3-10264482-G-A c.1176G>A p.L392= Synonymous 9/13 - 1
3-10264482-G-C c.1176G>C p.L392= Synonymous 9/13 - 1
3-10264482-G-T c.1176G>T p.L392= Synonymous 9/13 - 1
3-10264486-A-G c.1180A>G p.K394E Missense 9/13 - 1
3-10264498-ATCT-A c.1195_1197del p.F399del InFrameDeletion 9/13 - 1
3-10264506-GC-G c.1200del p.C401Vfs*3 Frameshift 9/13 - 1
3-10264511-G-C c.1205G>C p.G402A Missense 9/13 - 1
3-10266057-T-C c.1209+1542T>C - IntronicSNV - 9/12 1
3-10266451-T-C c.1210-1604T>C - IntronicSNV - 9/12 1
3-10267942-G-C c.1210-113G>C - IntronicSNV - 9/12 2
3-10268017-C-T c.1210-38C>T - IntronicSNV - 9/12 8
3-10268061-G-GC c.1218dup p.E407Rfs*11 Frameshift 10/13 - 1
3-10268063-C-A c.1218C>A p.A406= Synonymous 10/13 - 2
3-10268063-C-G c.1218C>G p.A406= Synonymous 10/13 - 2
3-10268063-C-T c.1218C>T p.A406= Synonymous 10/13 - 3
3-10268064-G-A c.1219G>A p.E407K Missense 10/13 - 5
3-10268064-G-T c.1219G>T p.E407* Nonsense 10/13 - 1
3-10268066-G-T c.1221G>T p.E407D Missense 10/13 - 1
3-10268068-T-C c.1223T>C p.V408A Missense 10/13 - 1
3-10268069-C-A c.1224C>A p.V408= Synonymous 10/13 - 1
3-10268069-C-G c.1224C>G p.V408= Synonymous 10/13 - 1
3-10268069-C-T c.1224C>T p.V408= Synonymous 10/13 - 2
3-10268070-C-A c.1225C>A p.L409I Missense 10/13 - 1
3-10268072-C-A c.1227C>A p.L409= Synonymous 10/13 - 2
3-10268072-C-G c.1227C>G p.L409= Synonymous 10/13 - 2
3-10268072-C-T c.1227C>T p.L409= Synonymous 10/13 - 3
3-10268074-C-T c.1229C>T p.T410M Missense 10/13 - 5
3-10268076-G-A c.1231G>A p.G411S Missense 10/13 - 4
3-10268092-A-G c.1247A>G p.D416G Missense 10/13 - 1
3-10268100-C-G c.1255C>G p.R419G Missense 10/13 - 1
3-10268100-C-T c.1255C>T p.R419* Nonsense 10/13 - 4
3-10268106-C-A c.1261C>A p.P421T Missense 10/13 - 2
3-10268106-C-T c.1261C>T p.P421S Missense 10/13 - 2
3-10268107-C-T c.1262C>T p.P421L Missense 10/13 - 1
3-10268109-G-A c.1264G>A p.V422I Missense 10/13 - 2
3-10268110-T-C c.1265T>C p.V422A Missense 10/13 - 1
3-10268196-T-C c.1272+79T>C - IntronicSNV - 10/12 1
3-10269666-G-A c.1272+1549G>A - IntronicSNV - 10/12 2
3-10269958-C-A c.1272+1841C>A - IntronicSNV - 10/12 9
3-10269958-C-T c.1272+1841C>T - IntronicSNV - 10/12 9
3-10272775-G-A c.1273-3368G>A - IntronicSNV - 10/12 2
3-10275475-T-C c.1273-668T>C - IntronicSNV - 10/12 1
3-10276145-G-A c.1275G>A p.K425= Synonymous 11/13 - 4
3-10276161-G-A c.1291G>A p.D431N Missense 11/13 - 4
3-10276163-T-A c.1293T>A p.D431E Missense 11/13 - 43
3-10276163-T-C c.1293T>C p.D431= Synonymous 11/13 - 2
3-10276163-T-G c.1293T>G p.D431E Missense 11/13 - 24
3-10276167-C-T c.1297C>T p.P433S Missense 11/13 - 4
3-10276170-A-G c.1300A>G p.S434G Missense 11/13 - 1
3-10276170-A-T c.1300A>T p.S434C Missense 11/13 - 1
3-10276171-G-C c.1301G>C p.S434T Missense 11/13 - 1
3-10276172-C-T c.1302C>T p.S434= Synonymous 11/13 - 1
3-10276173-AG-GC c.1303_1304delinsGC p.S435A Missense 11/13 - 1
3-10276179-G-A c.1309G>A p.A437T Missense 11/13 - 3
3-10276179-G-T c.1309G>T p.A437S Missense 11/13 - 1
3-10276183-CG-TT c.1313_1314delinsTT p.S438F Missense 11/13 - 1
3-10276183-C-T c.1313C>T p.S438L Missense 11/13 - 1
3-10276185-C-G c.1315C>G p.L439V Missense 11/13 - 13
3-10276192-C-G c.1322C>G p.S441C Missense 11/13 - 7
3-10276192-C-T c.1322C>T p.S441F Missense 11/13 - 1
3-10276194-A-T c.1324A>T p.R442W Missense 11/13 - 1
3-10276194-A-C c.1324A>C p.R442= Synonymous 11/13 - 2
3-10276196-G-A c.1326G>A p.R442= Synonymous 11/13 - 5
3-10276201-C-T c.1331C>T p.T444M Missense 11/13 - 4
3-10276202-G-A c.1332G>A p.T444= Synonymous 11/13 - 1
3-10276202-G-C c.1332G>C p.T444= Synonymous 11/13 - 1
3-10276202-G-T c.1332G>T p.T444= Synonymous 11/13 - 1
3-10276204-G-C c.1334G>C p.G445A Missense 11/13 - 1
3-10276205-C-A c.1335C>A p.G445= Synonymous 11/13 - 2
3-10276205-C-G c.1335C>G p.G445= Synonymous 11/13 - 2
3-10276205-C-T c.1335C>T p.G445= Synonymous 11/13 - 2
3-10276206-G-A c.1336G>A p.V446M Missense 11/13 - 2
3-10276209-G-T c.1339G>T p.E447* Nonsense 11/13 - 2
3-10276214-C-T c.1344C>T p.N448= Synonymous 11/13 - 1
3-10276215-G-A c.1345G>A p.V449M Missense 11/13 - 2
3-10276233-T-G c.1363T>G p.C455G Missense 11/13 - 1
3-10276237-A-G c.1367A>G p.Q456R Missense 11/13 - 1
3-10276237-A-T c.1367A>T p.Q456L Missense 11/13 - 1
3-10276242-T-C c.1372T>C p.Y458H Missense 11/13 - 2
3-10276251-A-G c.1381A>G p.K461E Missense 11/13 - 1
3-10276261-G-A c.1391G>A p.G464E Missense 11/13 - 1
3-10276264-G-A c.1394G>A p.R465K Missense 11/13 - 4
3-10276263-A-C c.1393A>C p.R465= Synonymous 11/13 - 1
3-10276265-G-A c.1395G>A p.R465= Synonymous 11/13 - 1
3-10276266-C-T c.1396C>T p.L466F Missense 11/13 - 1
3-10276269-C-A c.1399C>A p.P467T Missense 11/13 - 1
3-10276271-G-A c.1401G>A p.P467= Synonymous 11/13 - 2
3-10276271-G-C c.1401G>C p.P467= Synonymous 11/13 - 1
3-10276271-G-T c.1401G>T p.P467= Synonymous 11/13 - 1
3-10276275-G-A c.1405G>A p.D469N Missense 11/13 - 2
3-10276281-G-A c.1411G>A p.A471T Missense 11/13 - 1
3-10276295-C-A c.1425C>A p.A475= Synonymous 11/13 - 1
3-10276295-C-G c.1425C>G p.A475= Synonymous 11/13 - 1
3-10276295-C-T c.1425C>T p.A475= Synonymous 11/13 - 1
3-10276297-C-A c.1427C>A p.T476K Missense 11/13 - 1
3-10276298-G-A c.1428G>A p.T476= Synonymous 11/13 - 2
3-10276299-G-T c.1429G>T p.A477S Missense 11/13 - 1
3-10276304-C-T c.1434C>T p.A478= Synonymous 11/13 - 1
3-10276307-C-A c.1437C>A p.C479* Nonsense 11/13 - 1
3-10276308-C-T c.1438C>T p.L480= Synonymous 11/13 - 4
3-10276314-C-A c.1444C>A p.L482M Missense 11/13 - 1
3-10276314-C-G c.1444C>G p.L482V Missense 11/13 - 1
3-10276317-C-T c.1447C>T p.R483W Missense 11/13 - 1
3-10276323-CGT-TGG c.1453_1455delinsTGG p.R485W Missense 11/13 - 1
3-10276324-G-C c.1454G>C p.R485P Missense 11/13 - 1
3-10276333-G-T c.1463G>T p.S488I Missense 11/13 - 2
3-10276338-C-A c.1468C>A p.Q490K Missense 11/13 - 1
3-10276341-G-T c.1471G>T p.E491* Nonsense 11/13 - 1
3-10277866-T-C c.1473+1523T>C - IntronicSNV - 11/12 1
3-10278696-C-T c.1474-1736C>T - IntronicSNV - 11/12 1
3-10279506-A-G c.1474-926A>G - IntronicSNV - 11/12 1
3-10280233-C-T c.1474-199C>T - IntronicSNV - 11/12 4
3-10280394-A-T c.1474-38A>T - IntronicSNV - 11/12 1
3-10280447-G-A c.1489G>A p.A497T Missense 12/13 - 1
3-10280448-C-G c.1490C>G p.A497G Missense 12/13 - 1
3-10280450-G-T c.1492G>T p.A498S Missense 12/13 - 1
3-10280451-C-G c.1493C>G p.A498G Missense 12/13 - 1
3-10280455-G-A c.1497G>A p.V499= Synonymous 12/13 - 1
3-10280457-A-T c.1499A>T p.E500V Missense 12/13 - 1
3-10280460-A-G c.1502A>G p.E501G Missense 12/13 - 4
3-10280462-C-T c.1504C>T p.R502W Missense 12/13 - 2
3-10280463-G-A c.1505G>A p.R502Q Missense 12/13 - 1
3-10280464-G-A c.1506G>A p.R502= Synonymous 12/13 - 1
3-10280465-C-A c.1507C>A p.L503I Missense 12/13 - 9
3-10280467-C-A c.1509C>A p.L503= Synonymous 12/13 - 1
3-10280467-C-G c.1509C>G p.L503= Synonymous 12/13 - 1
3-10280467-C-T c.1509C>T p.L503= Synonymous 12/13 - 2
3-10280468-C-T c.1510C>T p.R504* Nonsense 12/13 - 3
3-10280469-G-A c.1511G>A p.R504Q Missense 12/13 - 8
3-10280474-C-T c.1516C>T p.R506W Missense 12/13 - 4
3-10280476-G-A c.1518G>A p.R506= Synonymous 12/13 - 1
3-10280481-C-T c.1523C>T p.T508M Missense 12/13 - 6
3-10280482-G-A c.1524G>A p.T508= Synonymous 12/13 - 1
3-10280488-C-A c.1530C>A p.L510= Synonymous 12/13 - 2
3-10280488-CC-TT c.1530_1531delinsTT p.P511S Missense 12/13 - 1
3-10280488-C-G c.1530C>G p.L510= Synonymous 12/13 - 2
3-10280488-C-T c.1530C>T p.L510= Synonymous 12/13 - 3
3-10280489-C-T c.1531C>T p.P511S Missense 12/13 - 6
3-10280490-C-T c.1532C>T p.P511L Missense 12/13 - 1
3-10280493-G-A c.1535G>A p.W512* Nonsense 12/13 - 1
3-10280494-G-A c.1536G>A p.W512* Nonsense 12/13 - 6
3-10280495-AG-GC c.1537_1538delinsGC p.S513A Missense 12/13 - 1
3-10280496-G-A c.1538G>A p.S513N Missense 12/13 - 2
3-10280509-G-T c.1551G>T p.E517D Missense 12/13 - 1
3-10280510-G-T c.1552G>T p.G518C Missense 12/13 - 1
3-10280511-G-C c.1553G>C p.G518A Missense 12/13 - 1
3-10280516-G-A c.1558G>A p.G520S Missense 12/13 - 1
3-10280517-G-A c.1559G>A p.G520D Missense 12/13 - 1
3-10280522-T-C c.1564T>C p.S522P Missense 12/13 - 1
3-10280523-C-G c.1565C>G p.S522C Missense 12/13 - 2
3-10280534-C-T c.1576C>T p.P526S Missense 12/13 - 1
3-10280535-C-A c.1577C>A p.P526Q Missense 12/13 - 1
3-10280539-G-A c.1581G>A p.E527= Synonymous 12/13 - 1
3-10280541-A-C c.1583A>C p.E528A Missense 12/13 - 2
3-10280543-A-G c.1585A>G p.T529A Missense 12/13 - 1
3-10280544-C-A c.1586C>A p.T529K Missense 12/13 - 1
3-10280548-C-T c.1590C>T p.D530= Synonymous 12/13 - 1
3-10280549-G-A c.1591G>A p.D531N Missense 12/13 - 8
3-10280551-C-T c.1593C>T p.D531= Synonymous 12/13 - 1
3-10280552-G-A c.1594G>A p.V532I Missense 12/13 - 4
3-10280555-G-T c.1597G>T p.D533Y Missense 12/13 - 1
3-10280559-A-G c.1601A>G p.N534S Missense 12/13 - 2
3-10280562-C-T c.1604C>T p.S535F Missense 12/13 - 1
3-10280570-G-C c.1612G>C p.D538H Missense 12/13 - 1
3-10280571-A-T c.1613A>T p.D538V Missense 12/13 - 3
3-10280575-C-T c.1617C>T p.A539= Synonymous 12/13 - 1
3-10280577-C-T c.1619C>T p.S540F Missense 12/13 - 4
3-10280580-C-T c.1622C>T p.S541F Missense 12/13 - 6
3-10280583-C-T c.1625C>T p.S542F Missense 12/13 - 1
3-10280585-A-G c.1627A>G p.M543V Missense 12/13 - 1
3-10280590-T-C c.1632T>C p.S544= Synonymous 12/13 - 1
3-10280598-C-T c.1640C>T p.P547L Missense 12/13 - 1
3-10280603-G-T c.1645G>T p.A549S Missense 12/13 - 1
3-10280606-G-A c.1648G>A p.G550R Missense 12/13 - 1
3-10280612-G-A c.1654G>A p.A552T Missense 12/13 - 1
3-10280615-A-C c.1657A>C p.T553P Missense 12/13 - 1
3-10280618-C-T c.1660C>T p.P554S Missense 12/13 - 1
3-10280635-G-C c.1677G>C p.E559D Missense 12/13 - 1
3-10280635-G-T c.1677G>T p.E559D Missense 12/13 - 2
3-10280639-G-A c.1681G>A p.G561R Missense 12/13 - 4
3-10280639-GG-AA c.1681_1682delinsAA p.G561K Missense 12/13 - 2
3-10280641-G-A c.1683G>A p.G561= Synonymous 12/13 - 1
3-10280644-A-T c.1686A>T p.E562D Missense 12/13 - 1
3-10280645-G-A c.1687G>A p.G563R Missense 12/13 - 1
3-10280651-C-A c.1693C>A p.L565M Missense 12/13 - 1
3-10280654-C-T c.1696C>T p.R566W Missense 12/13 - 4
3-10280655-G-A c.1697G>A p.R566Q Missense 12/13 - 1
3-10280655-G-T c.1697G>T p.R566L Missense 12/13 - 1
3-10280659-C-A c.1701C>A p.V567= Synonymous 12/13 - 1
3-10280659-C-G c.1701C>G p.V567= Synonymous 12/13 - 1
3-10280659-C-T c.1701C>T p.V567= Synonymous 12/13 - 1
3-10280662-C-A c.1704C>A p.I568= Synonymous 12/13 - 1
3-10280662-C-T c.1704C>T p.I568= Synonymous 12/13 - 1
3-10280663-G-A c.1705G>A p.V569M Missense 12/13 - 5
3-10280672-G-A c.1714G>A p.E572K Missense 12/13 - 4
3-10280673-A-T c.1715A>T p.E572V Missense 12/13 - 1
3-10280674-G-A c.1716G>A p.E572= Synonymous 12/13 - 1
3-10280677-T-C c.1719T>C p.A573= Synonymous 12/13 - 1
3-10280678-G-C c.1720G>C p.D574H Missense 12/13 - 4
3-10280685-C-T c.1727C>T p.S576F Missense 12/13 - 1
3-10280688-C-G c.1730C>G p.S577C Missense 12/13 - 2
3-10280702-G-T c.1744G>T p.G582C Missense 12/13 - 1
3-10280712-C-T c.1754C>T p.P585L Missense 12/13 - 1
3-10280719-G-A c.1761G>A p.Q587= Synonymous 12/13 - 1
3-10280723-G-A c.1765G>A p.V589I Missense 12/13 - 1
3-10280723-G-C c.1765G>C p.V589L Missense 12/13 - 1
3-10280724-G-A c.1765+1G>A - IntronicSNV - 12/12 1
3-10280753-G-A c.1765+30G>A - IntronicSNV - 12/12 3
3-10280753-G-C c.1765+30G>C - IntronicSNV - 12/12 2
3-10283550-C-A c.1766-250C>A - IntronicSNV - 12/12 1
3-10283550-C-G c.1766-250C>G - IntronicSNV - 12/12 1
3-10283669-A-G c.1766-131A>G - IntronicSNV - 12/12 1
3-10283670-G-A c.1766-130G>A - IntronicSNV - 12/12 1
3-10283716-A-G c.1766-84A>G - IntronicSNV - 12/12 5
3-10283806-A-C c.1772A>C p.E591A Missense 13/13 - 2
3-10283810-T-G c.1776T>G p.T592= Synonymous 13/13 - 1
3-10283812-C-T c.1778C>T p.S593L Missense 13/13 - 1
3-10283813-G-A c.1779G>A p.S593= Synonymous 13/13 - 5
3-10283813-G-C c.1779G>C p.S593= Synonymous 13/13 - 2
3-10283813-G-T c.1779G>T p.S593= Synonymous 13/13 - 2
3-10283817-C-A c.1783C>A p.Q595K Missense 13/13 - 1
3-10283817-C-G c.1783C>G p.Q595E Missense 13/13 - 1
3-10283818-A-T c.1784A>T p.Q595L Missense 13/13 - 2
3-10283822-T-C c.1788T>C p.I596= Synonymous 13/13 - 1
3-10283825-G-A c.1791G>A p.E597= Synonymous 13/13 - 2
3-10283827-T-C c.1793T>C p.I598T Missense 13/13 - 1
3-10283831-T-C c.1797T>C p.N599= Synonymous 13/13 - 1
3-10283837-C-CA c.1807dup p.R603Kfs*19 Frameshift 13/13 - 1
3-10283842-G-A c.1808G>A p.R603K Missense 13/13 - 3
3-10283843-G-A c.1809G>A p.R603= Synonymous 13/13 - 2
3-10283848-T-A c.1814T>A p.L605Q Missense 13/13 - 1
3-10283852-G-A c.1818G>A p.M606I Missense 13/13 - 1
3-10283855-G-A c.1821G>A p.E607= Synonymous 13/13 - 1
3-10283857-A-C c.1823A>C p.N608T Missense 13/13 - 2
3-10283862-C-T c.1828C>T p.L610= Synonymous 13/13 - 1
3-10283864-G-A c.1830G>A p.L610= Synonymous 13/13 - 1
3-10283864-G-C c.1830G>C p.L610= Synonymous 13/13 - 1
3-10283864-G-T c.1830G>T p.L610= Synonymous 13/13 - 1
3-10283867-C-A c.1833C>A p.L611= Synonymous 13/13 - 1
3-10283867-C-G c.1833C>G p.L611= Synonymous 13/13 - 1
3-10283867-C-T c.1833C>T p.L611= Synonymous 13/13 - 3
3-10283874-G-A c.1840G>A p.E614K Missense 13/13 - 1
3-10283877-G-A c.1843G>A p.E615K Missense 13/13 - 1
3-10283880-A-C c.1846A>C p.K616Q Missense 13/13 - 1
3-10283883-GTG-TTT c.1849_1851delinsTTT p.V617F Missense 13/13 - 1
3-10283890-G-T c.1856G>T p.S619I Missense 13/13 - 3
3-10283898-C-G c.1864C>G p.L622V Missense 13/13 - 1
3-10283900-C-G c.1866C>G p.L622= Synonymous 13/13 - 3