CXCR2

CXCR2 C-X-C motif chemokine receptor 2

Annotation transcript: NM_001557.4

532 unique variant annotations were identified in 518 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
2-218990897-C-T c.-257C>T - 5_prime_UTR_variant 1/3 - 1
2-218990923-C-T c.-231C>T - 5_prime_UTR_variant 1/3 - 1
2-218990949-C-T c.-205C>T - 5_prime_UTR_variant 1/3 - 1
2-218991009-A-G c.-145A>G - 5_prime_UTR_variant 1/3 - 1
2-218991167-T-G c.-78+91T>G - intron_variant - 1/2 1
2-218993942-G-A c.-77-95G>A - intron_variant - 1/2 1
2-218994003-C-A c.-77-34C>A - intron_variant - 1/2 1
2-218994170-C-T c.-26+82C>T - intron_variant - 2/2 1
2-218995122-A-G c.-26+1034A>G - intron_variant - 2/2 1
2-218996553-C-T c.-26+2465C>T - intron_variant - 2/2 1
2-218997580-T-C c.-25-1920T>C - IntronicSNV - 2/2 3
2-218998908-T-C c.-25-592T>C - IntronicSNV - 2/2 1
2-218999255-G-A c.-25-245G>A - IntronicSNV - 2/2 2
2-218999369-C-T c.-25-131C>T - IntronicSNV - 2/2 1
2-218991005-G-A c.-149G>A - IntronicSNV 1/3 - 10
2-218991005-G-T c.-149G>T - IntronicSNV 1/3 - 10
2-218999376-G-A c.-149G>A - IntronicSNV 1/3 - 4
2-218999376-G-T c.-149G>T - IntronicSNV 1/3 - 4
2-218999379-G-A c.-25-121G>A - IntronicSNV - 2/2 1
2-218999379-G-C c.-25-121G>C - IntronicSNV - 2/2 1
2-218999381-G-T c.-77-67G>T - IntronicSNV - 1/2 1
2-218999386-A-G c.-25-114A>G - IntronicSNV - 2/2 1
2-218999400-A-G c.-25-100A>G - IntronicSNV - 2/2 1
2-218999480-C-A c.-25-20C>A - IntronicSNV - 2/2 1
2-218999480-C-G c.-25-20C>G - IntronicSNV - 2/2 1
2-218999480-C-T c.-25-20C>T - IntronicSNV - 2/2 1
2-218999500-G-T c.-26+1G>T - 5-UTRSNV - 2/2 1
2-218999520-CA-C c.1del p.M1? CdsStartDeletion 3/3 - 1
2-218999528-G-A c.4G>A p.E2K Missense 3/3 - 2
2-218999529-A-G c.5A>G p.E2G Missense 3/3 - 1
2-218999530-A-G c.6A>G p.E2= Synonymous 3/3 - 1
2-218999531-G-A c.7G>A p.D3N Missense 3/3 - 1
2-218999534-T-C c.10T>C p.F4L Missense 3/3 - 1
2-218999536-T-C c.12T>C p.F4= Synonymous 3/3 - 1
2-218999539-C-A c.15C>A p.N5K Missense 3/3 - 1
2-218999539-C-G c.15C>G p.N5K Missense 3/3 - 1
2-218999541-T-A c.17T>A p.M6K Missense 3/3 - 1
2-218999541-T-C c.17T>C p.M6T Missense 3/3 - 4
2-218999541-T-G c.17T>G p.M6R Missense 3/3 - 1
2-218999542-G-A c.18G>A p.M6I Missense 3/3 - 5
2-218999542-G-C c.18G>C p.M6I Missense 3/3 - 1
2-218999542-G-T c.18G>T p.M6I Missense 3/3 - 1
2-218999543-G-T c.19G>T p.E7* Nonsense 3/3 - 2
2-218999545-G-A c.21G>A p.E7= Synonymous 3/3 - 1
2-218999551-C-T c.27C>T p.D9= Synonymous 3/3 - 2
2-218999552-A-G c.28A>G p.S10G Missense 3/3 - 4
2-218999552-AGC-GAG c.28_30delinsGAG p.S10E Missense 3/3 - 8
2-218999552-AG-GA c.28_29delinsGA p.S10D Missense 3/3 - 8
2-218999552-AG-GC c.28_29delinsGC p.S10A Missense 3/3 - 24
2-218999552-AG-TT c.28_29delinsTT p.S10F Missense 3/3 - 2
2-218999552-A-T c.28A>T p.S10C Missense 3/3 - 14
2-218999555-T-C c.31T>C p.F11L Missense 3/3 - 1
2-218999555-TT-CG c.31_32delinsCG p.F11R Missense 3/3 - 8
2-218999558-G-A c.34G>A p.E12K Missense 3/3 - 1
2-218999558-GAA-CAT c.34_36delinsCAT p.E12H Missense 3/3 - 1
2-218999561-G-A c.37G>A p.D13N Missense 3/3 - 1
2-218999564-TT-AA c.40_41inv p.F14N Missense 3/3 - 1
2-218999573-G-A c.49G>A p.G17S Missense 3/3 - 1
2-218999579-GA-TG c.55_56delinsTG p.D19C Missense 3/3 - 1
2-218999579-G-C c.55G>C p.D19H Missense 3/3 - 1
2-218999579-G-T c.55G>T p.D19Y Missense 3/3 - 1
2-218999580-A-C c.56A>C p.D19A Missense 3/3 - 1
2-218999581-T-A c.57T>A p.D19E Missense 3/3 - 3
2-218999581-T-G c.57T>G p.D19E Missense 3/3 - 3
2-218999582-C-A c.58C>A p.L20I Missense 3/3 - 1
2-218999582-C-T c.58C>T p.L20F Missense 3/3 - 2
2-218999585-AG-GT c.61_62delinsGT p.S21V Missense 3/3 - 1
2-218999585-A-T c.61A>T p.S21C Missense 3/3 - 1
2-218999589-A-G c.65A>G p.N22S Missense 3/3 - 1
2-218999591-T-C c.67T>C p.Y23H Missense 3/3 - 1
2-218999594-AG-GC c.70_71delinsGC p.S24A Missense 3/3 - 1
2-218999594-AGT-GAG c.70_72delinsGAG p.S24E Missense 3/3 - 1
2-218999594-A-T c.70A>T p.S24C Missense 3/3 - 1
2-218999595-G-A c.71G>A p.S24N Missense 3/3 - 1
2-218999594-A-C c.70A>C p.S24R Missense 3/3 - 1
2-218999596-T-A c.72T>A p.S24R Missense 3/3 - 1
2-218999596-T-G c.72T>G p.S24R Missense 3/3 - 1
2-218999600-A-C c.76A>C p.S26R Missense 3/3 - 1
2-218999602-C-A c.78C>A p.S26R Missense 3/3 - 1
2-218999602-C-G c.78C>G p.S26R Missense 3/3 - 1
2-218999603-TC-AA c.79_80delinsAA p.S27N Missense 3/3 - 1
2-218999606-AC-TT c.82_83delinsTT p.T28F Missense 3/3 - 1
2-218999608-C-T c.84C>T p.T28= Synonymous 3/3 - 1
2-218999609-CTG-TGT c.85_87delinsTGT p.L29C Missense 3/3 - 3
2-218999609-C-T c.85C>T p.L29= Synonymous 3/3 - 1
2-218999611-G-A c.87G>A p.L29= Synonymous 3/3 - 1
2-218999611-G-C c.87G>C p.L29= Synonymous 3/3 - 1
2-218999611-G-T c.87G>T p.L29= Synonymous 3/3 - 1
2-218999612-C-A c.88C>A p.P30T Missense 3/3 - 1
2-218999613-C-T c.89C>T p.P30L Missense 3/3 - 1
2-218999614-C-A c.90C>A p.P30= Synonymous 3/3 - 1
2-218999614-C-G c.90C>G p.P30= Synonymous 3/3 - 1
2-218999614-C-T c.90C>T p.P30= Synonymous 3/3 - 3
2-218999615-C-T c.91C>T p.P31S Missense 3/3 - 2
2-218999616-C-T c.92C>T p.P31L Missense 3/3 - 1
2-218999627-G-A c.103G>A p.D35N Missense 3/3 - 1
2-218999630-G-A c.106G>A p.A36T Missense 3/3 - 3
2-218999631-C-A c.107C>A p.A36D Missense 3/3 - 1
2-218999632-C-A c.108C>A p.A36= Synonymous 3/3 - 2
2-218999632-C-G c.108C>G p.A36= Synonymous 3/3 - 2
2-218999632-C-T c.108C>T p.A36= Synonymous 3/3 - 3
2-218999633-G-A c.109G>A p.A37T Missense 3/3 - 8
2-218999635-C-A c.111C>A p.A37= Synonymous 3/3 - 2
2-218999635-C-G c.111C>G p.A37= Synonymous 3/3 - 2
2-218999635-C-T c.111C>T p.A37= Synonymous 3/3 - 2
2-218999636-CC-AA c.112_113delinsAA p.P38K Missense 3/3 - 1
2-218999636-CC-AT c.112_113delinsAT p.P38I Missense 3/3 - 2
2-218999636-C-G c.112C>G p.P38A Missense 3/3 - 3
2-218999637-C-T c.113C>T p.P38L Missense 3/3 - 1
2-218999639-T-A c.115T>A p.C39S Missense 3/3 - 1
2-218999640-G-C c.116G>C p.C39S Missense 3/3 - 1
2-218999641-T-G c.117T>G p.C39W Missense 3/3 - 4
2-218999642-G-A c.118G>A p.E40K Missense 3/3 - 8
2-218999648-G-A c.124G>A p.E42K Missense 3/3 - 1
2-218999652-C-T c.128C>T p.S43F Missense 3/3 - 6
2-218999654-C-A c.130C>A p.L44M Missense 3/3 - 1
2-218999655-T-A c.131T>A p.L44Q Missense 3/3 - 1
2-218999656-G-A c.132G>A p.L44= Synonymous 3/3 - 2
2-218999657-G-A c.133G>A p.E45K Missense 3/3 - 2
2-218999659-A-T c.135A>T p.E45D Missense 3/3 - 2
2-218999661-T-C c.137T>C p.I46T Missense 3/3 - 3
2-218999662-C-T c.138C>T p.I46= Synonymous 3/3 - 3
2-218999663-A-C c.139A>C p.N47H Missense 3/3 - 1
2-218999665-C-T c.141C>T p.N47= Synonymous 3/3 - 1
2-218999671-T-C c.147T>C p.Y49= Synonymous 3/3 - 1
2-218999679-T-G c.155T>G p.V52G Missense 3/3 - 1
2-218999689-T-C c.165T>C p.Y55= Synonymous 3/3 - 1
2-218999690-G-T c.166G>T p.A56S Missense 3/3 - 1
2-218999696-G-C c.172G>C p.V58L Missense 3/3 - 1
2-218999696-G-T c.172G>T p.V58L Missense 3/3 - 1
2-218999703-T-A c.179T>A p.L60Q Missense 3/3 - 1
2-218999703-T-C c.179T>C p.L60P Missense 3/3 - 1
2-218999706-T-A c.182T>A p.L61Q Missense 3/3 - 1
2-218999705-C-T c.181C>T p.L61= Synonymous 3/3 - 3
2-218999708-A-G c.184A>G p.S62G Missense 3/3 - 1
2-218999708-AG-CA c.184_185delinsCA p.S62H Missense 3/3 - 1
2-218999717-G-A c.193G>A p.G65R Missense 3/3 - 4
2-218999717-G-C c.193G>C p.G65R Missense 3/3 - 2
2-218999718-G-A c.194G>A p.G65E Missense 3/3 - 3
2-218999724-C-G c.200C>G p.S67C Missense 3/3 - 1
2-218999728-C-T c.204C>T p.L68= Synonymous 3/3 - 4
2-218999729-G-A c.205G>A p.V69M Missense 3/3 - 2
2-218999737-G-A c.213G>A p.L71= Synonymous 3/3 - 3
2-218999740-C-T c.216C>T p.V72= Synonymous 3/3 - 1
2-218999748-A-G c.224A>G p.Y75C Missense 3/3 - 1
2-218999750-A-C c.226A>C p.S76R Missense 3/3 - 1
2-218999752-C-A c.228C>A p.S76R Missense 3/3 - 1
2-218999752-C-G c.228C>G p.S76R Missense 3/3 - 2
2-218999756-G-T c.232G>T p.V78F Missense 3/3 - 1
2-218999757-T-A c.233T>A p.V78D Missense 3/3 - 2
2-218999758-C-A c.234C>A p.V78= Synonymous 3/3 - 1
2-218999758-C-G c.234C>G p.V78= Synonymous 3/3 - 1
2-218999758-C-T c.234C>T p.V78= Synonymous 3/3 - 2
2-218999759-G-A c.235G>A p.G79S Missense 3/3 - 5
2-218999760-G-A c.236G>A p.G79D Missense 3/3 - 1
2-218999762-C-T c.238C>T p.R80C Missense 3/3 - 9
2-218999763-G-A c.239G>A p.R80H Missense 3/3 - 4
2-218999764-C-T c.240C>T p.R80= Synonymous 3/3 - 1
2-218999766-C-T c.242C>T p.S81F Missense 3/3 - 1
2-218999767-C-A c.243C>A p.S81= Synonymous 3/3 - 2
2-218999767-C-G c.243C>G p.S81= Synonymous 3/3 - 2
2-218999767-C-T c.243C>T p.S81= Synonymous 3/3 - 2
2-218999768-G-A c.244G>A p.V82I Missense 3/3 - 3
2-218999771-AC-CT c.247_248delinsCT p.T83L Missense 3/3 - 1
2-218999771-A-G c.247A>G p.T83A Missense 3/3 - 1
2-218999772-C-A c.248C>A p.T83N Missense 3/3 - 1
2-218999772-C-T c.248C>T p.T83I Missense 3/3 - 1
2-218999774-G-A c.250G>A p.D84N Missense 3/3 - 1
2-218999777-G-A c.253G>A p.V85I Missense 3/3 - 1
2-218999782-C-T c.258C>T p.Y86= Synonymous 3/3 - 2
2-218999787-T-A c.263T>A p.L88Q Missense 3/3 - 3
2-218999792-C-T c.268C>T p.L90= Synonymous 3/3 - 1
2-218999794-A-C c.270A>C p.L90= Synonymous 3/3 - 1
2-218999794-A-G c.270A>G p.L90= Synonymous 3/3 - 1
2-218999794-A-T c.270A>T p.L90= Synonymous 3/3 - 1
2-218999795-G-A c.271G>A p.A91T Missense 3/3 - 1
2-218999795-GC-TG c.271_272delinsTG p.A91C Missense 3/3 - 1
2-218999796-C-T c.272C>T p.A91V Missense 3/3 - 1
2-218999798-T-C c.274T>C p.L92= Synonymous 3/3 - 1
2-218999800-G-A c.276G>A p.L92= Synonymous 3/3 - 1
2-218999801-G-A c.277G>A p.A93T Missense 3/3 - 2
2-218999802-C-T c.278C>T p.A93V Missense 3/3 - 1
2-218999803-C-A c.279C>A p.A93= Synonymous 3/3 - 1
2-218999803-C-G c.279C>G p.A93= Synonymous 3/3 - 1
2-218999803-C-T c.279C>T p.A93= Synonymous 3/3 - 2
2-218999804-G-A c.280G>A p.D94N Missense 3/3 - 3
2-218999806-C-T c.282C>T p.D94= Synonymous 3/3 - 1
2-218999812-C-T c.288C>T p.L96= Synonymous 3/3 - 1
2-218999815-T-C c.291T>C p.F97= Synonymous 3/3 - 1
2-218999817-C-T c.293C>T p.A98V Missense 3/3 - 6
2-218999822-A-G c.298A>G p.T100A Missense 3/3 - 1
2-218999823-C-T c.299C>T p.T100I Missense 3/3 - 1
2-218999824-C-A c.300C>A p.T100= Synonymous 3/3 - 1
2-218999824-C-G c.300C>G p.T100= Synonymous 3/3 - 1
2-218999824-C-T c.300C>T p.T100= Synonymous 3/3 - 2
2-218999827-G-A c.303G>A p.L101= Synonymous 3/3 - 1
2-218999827-G-C c.303G>C p.L101F Missense 3/3 - 1
2-218999827-G-T c.303G>T p.L101F Missense 3/3 - 1
2-218999828-C-T c.304C>T p.P102S Missense 3/3 - 2
2-218999829-C-G c.305C>G p.P102R Missense 3/3 - 1
2-218999836-G-T c.312G>T p.W104C Missense 3/3 - 2
2-218999837-G-C c.313G>C p.A105P Missense 3/3 - 2
2-218999840-G-A c.316G>A p.A106T Missense 3/3 - 7
2-218999841-C-A c.317C>A p.A106D Missense 3/3 - 1
2-218999843-T-A c.319T>A p.S107T Missense 3/3 - 2
2-218999848-G-C c.324G>C p.K108N Missense 3/3 - 1
2-218999848-G-T c.324G>T p.K108N Missense 3/3 - 1
2-218999849-G-A c.325G>A p.V109M Missense 3/3 - 2
2-218999849-GTG-ATC c.325_327delinsATC p.V109I Missense 3/3 - 1
2-218999849-GTG-TGT c.325_327delinsTGT p.V109C Missense 3/3 - 1
2-218999851-G-A c.327G>A p.V109= Synonymous 3/3 - 1
2-218999852-A-G c.328A>G p.N110D Missense 3/3 - 2
2-218999857-C-A c.333C>A p.G111= Synonymous 3/3 - 1
2-218999858-T-A c.334T>A p.W112R Missense 3/3 - 1
2-218999858-T-C c.334T>C p.W112R Missense 3/3 - 1
2-218999860-G-A c.336G>A p.W112* Nonsense 3/3 - 2
2-218999861-A-G c.337A>G p.I113V Missense 3/3 - 1
2-218999870-A-G c.346A>G p.T116A Missense 3/3 - 1
2-218999872-A-C c.348A>C p.T116= Synonymous 3/3 - 1
2-218999872-A-G c.348A>G p.T116= Synonymous 3/3 - 1
2-218999872-A-T c.348A>T p.T116= Synonymous 3/3 - 1
2-218999876-C-T c.352C>T p.L118= Synonymous 3/3 - 1
2-218999879-T-A c.355T>A p.C119S Missense 3/3 - 1
2-218999880-G-C c.356G>C p.C119S Missense 3/3 - 1
2-218999889-T-G c.365T>G p.V122G Missense 3/3 - 1
2-218999892-C-T c.368C>T p.S123L Missense 3/3 - 1
2-218999900-A-G c.376A>G p.K126E Missense 3/3 - 1
2-218999902-G-A c.378G>A p.K126= Synonymous 3/3 - 3
2-218999903-G-A c.379G>A p.E127K Missense 3/3 - 7
2-218999903-G-T c.379G>T p.E127* Nonsense 3/3 - 1
2-218999906-G-A c.382G>A p.V128I Missense 3/3 - 1
2-218999909-A-G c.385A>G p.N129D Missense 3/3 - 1
2-218999912-T-C c.388T>C p.F130L Missense 3/3 - 2
2-218999914-C-A c.390C>A p.F130L Missense 3/3 - 3
2-218999914-C-G c.390C>G p.F130L Missense 3/3 - 3
2-218999928-T-C c.404T>C p.L135P Missense 3/3 - 1
2-218999932-A-G c.408A>G p.L136= Synonymous 3/3 - 1
2-218999933-C-T c.409C>T p.L137= Synonymous 3/3 - 1
2-218999936-G-A c.412G>A p.A138T Missense 3/3 - 2
2-218999938-C-T c.414C>T p.A138= Synonymous 3/3 - 1
2-218999946-G-A c.422G>A p.S141N Missense 3/3 - 3
2-218999949-TG-AC c.425_426delinsAC p.V142D Missense 3/3 - 2
2-218999951-GA-CG c.427_428delinsCG p.D143R Missense 3/3 - 1
2-218999954-C-T c.430C>T p.R144C Missense 3/3 - 2
2-218999955-G-A c.431G>A p.R144H Missense 3/3 - 2
2-218999959-C-A c.435C>A p.Y145* Nonsense 3/3 - 1
2-218999959-C-G c.435C>G p.Y145* Nonsense 3/3 - 1
2-218999963-GC-CT c.439_440delinsCT p.A147L Missense 3/3 - 1
2-218999966-ATT-GAG c.442_444delinsGAG p.I148E Missense 3/3 - 1
2-218999971-C-A c.447C>A p.V149= Synonymous 3/3 - 1
2-218999975-G-A c.451G>A p.A151T Missense 3/3 - 4
2-218999978-A-AGGT c.454_455insGGT p.T152delinsRS MultiAAMissense 3/3 - 1
2-218999979-C-A c.455C>A p.T152K Missense 3/3 - 1
2-218999979-C-T c.455C>T p.T152I Missense 3/3 - 1
2-218999981-C-T c.457C>T p.R153C Missense 3/3 - 3
2-218999982-G-A c.458G>A p.R153H Missense 3/3 - 9
2-218999982-G-GGTC c.458_459insGTC p.R153_T154insS InFrameInsertion 3/3 - 1
2-218999989-TGACCCAGAAGCGCTACTTGGTCAAATTCA-T c.465_493del p.T156Mfs*28 Frameshift 3/3 - 1
2-218999989-G-GA c.466dup p.T156Nfs*38 Frameshift 3/3 - 1
2-218999990-A-G c.466A>G p.T156A Missense 3/3 - 1
2-218999995-G-C c.471G>C p.Q157H Missense 3/3 - 3
2-218999995-G-T c.471G>T p.Q157H Missense 3/3 - 2
2-219000000-G-A c.476G>A p.R159H Missense 3/3 - 1
2-219000006-T-C c.482T>C p.L161S Missense 3/3 - 1
2-219000010-C-T c.486C>T p.V162= Synonymous 3/3 - 1
2-219000012-A-G c.488A>G p.K163R Missense 3/3 - 1
2-219000012-A-T c.488A>T p.K163I Missense 3/3 - 1
2-219000013-A-C c.489A>C p.K163N Missense 3/3 - 3
2-219000013-A-T c.489A>T p.K163N Missense 3/3 - 3
2-219000014-T-C c.490T>C p.F164L Missense 3/3 - 3
2-219000014-T-G c.490T>G p.F164V Missense 3/3 - 1
2-219000016-C-G c.492C>G p.F164L Missense 3/3 - 4
2-219000016-C-A c.492C>A p.F164L Missense 3/3 - 4
2-219000017-A-G c.493A>G p.I165V Missense 3/3 - 1
2-219000027-G-C c.503G>C p.S168T Missense 3/3 - 2
2-219000034-G-C c.510G>C p.W170C Missense 3/3 - 1
2-219000035-G-A c.511G>A p.G171S Missense 3/3 - 1
2-219000036-G-A c.512G>A p.G171D Missense 3/3 - 1
2-219000042-C-T c.518C>T p.S173F Missense 3/3 - 5
2-219000043-C-T c.519C>T p.S173= Synonymous 3/3 - 1
2-219000053-G-A c.529G>A p.A177T Missense 3/3 - 1
2-219000055-C-A c.531C>A p.A177= Synonymous 3/3 - 1
2-219000055-C-T c.531C>T p.A177= Synonymous 3/3 - 1
2-219000061-T-A c.537T>A p.P179= Synonymous 3/3 - 1
2-219000072-T-A c.548T>A p.F183Y Missense 3/3 - 1
2-219000074-C-T c.550C>T p.R184* Nonsense 3/3 - 3
2-219000075-G-A c.551G>A p.R184Q Missense 3/3 - 4
2-219000078-G-A c.554G>A p.R185K Missense 3/3 - 1
2-219000083-G-A c.559G>A p.V187I Missense 3/3 - 4
2-219000091-A-G c.567A>G p.S189= Synonymous 3/3 - 2
2-219000094-C-G c.570C>G p.S190= Synonymous 3/3 - 1
2-219000097-T-C c.573T>C p.N191= Synonymous 3/3 - 2
2-219000099-T-G c.575T>G p.V192G Missense 3/3 - 3
2-219000102-G-T c.578G>T p.S193I Missense 3/3 - 1
2-219000105-C-T c.581C>T p.P194L Missense 3/3 - 1
2-219000108-C-A c.584C>A p.A195D Missense 3/3 - 3
2-219000109-C-T c.585C>T p.A195= Synonymous 3/3 - 1
2-219000111-G-A c.587G>A p.C196Y Missense 3/3 - 1
2-219000114-A-G c.590A>G p.Y197C Missense 3/3 - 1
2-219000120-A-T c.596A>T p.D199V Missense 3/3 - 2
2-219000125-G-C c.601G>C p.G201R Missense 3/3 - 1
2-219000131-A-C c.607A>C p.N203H Missense 3/3 - 1
2-219000134-A-G c.610A>G p.T204A Missense 3/3 - 1
2-219000137-G-A c.613G>A p.A205T Missense 3/3 - 2
2-219000142-C-A c.618C>A p.N206K Missense 3/3 - 1
2-219000142-C-G c.618C>G p.N206K Missense 3/3 - 1
2-219000143-T-A c.619T>A p.W207R Missense 3/3 - 1
2-219000144-G-A c.620G>A p.W207* Nonsense 3/3 - 1
2-219000145-G-A c.621G>A p.W207* Nonsense 3/3 - 1
2-219000146-C-G c.622C>G p.R208G Missense 3/3 - 1
2-219000146-C-T c.622C>T p.R208W Missense 3/3 - 3
2-219000147-G-A c.623G>A p.R208Q Missense 3/3 - 5
2-219000148-G-A c.624G>A p.R208= Synonymous 3/3 - 2
2-219000152-C-A c.628C>A p.L210M Missense 3/3 - 1
2-219000158-C-T c.634C>T p.R212W Missense 3/3 - 1
2-219000162-T-C c.638T>C p.I213T Missense 3/3 - 1
2-219000163-C-T c.639C>T p.I213= Synonymous 3/3 - 2
2-219000170-C-G c.646C>G p.Q216E Missense 3/3 - 1
2-219000171-A-C c.647A>C p.Q216P Missense 3/3 - 1
2-219000174-C-A c.650C>A p.S217Y Missense 3/3 - 1
2-219000175-C-T c.651C>T p.S217= Synonymous 3/3 - 4
2-219000180-G-A c.656G>A p.G219D Missense 3/3 - 2
2-219000183-T-C c.659T>C p.F220S Missense 3/3 - 1
2-219000185-A-C c.661A>C p.I221L Missense 3/3 - 1
2-219000187-C-T c.663C>T p.I221= Synonymous 3/3 - 2
2-219000191-C-A c.667C>A p.P223T Missense 3/3 - 1
2-219000192-C-A c.668C>A p.P223Q Missense 3/3 - 2
2-219000193-A-G c.669A>G p.P223= Synonymous 3/3 - 1
2-219000199-G-C c.675G>C p.L225= Synonymous 3/3 - 1
2-219000199-G-GCTA c.675_676insCTA p.L225dup InFrameInsertion 3/3 - 1
2-219000200-A-G c.676A>G p.I226V Missense 3/3 - 1
2-219000202-C-A c.678C>A p.I226= Synonymous 3/3 - 1
2-219000202-C-T c.678C>T p.I226= Synonymous 3/3 - 4
2-219000211-C-T c.687C>T p.F229= Synonymous 3/3 - 1
2-219000212-T-C c.688T>C p.C230R Missense 3/3 - 1
2-219000214-C-A c.690C>A p.C230* Nonsense 3/3 - 1
2-219000216-A-T c.692A>T p.Y231F Missense 3/3 - 1
2-219000217-C-A c.693C>A p.Y231* Nonsense 3/3 - 1
2-219000217-C-G c.693C>G p.Y231* Nonsense 3/3 - 1
2-219000218-G-A c.694G>A p.G232R Missense 3/3 - 4
2-219000218-G-C c.694G>C p.G232R Missense 3/3 - 2
2-219000219-G-A c.695G>A p.G232E Missense 3/3 - 3
2-219000221-T-A c.697T>A p.F233I Missense 3/3 - 2
2-219000227-CT-GA c.703_704delinsGA p.L235E Missense 3/3 - 4
2-219000230-C-T c.706C>T p.R236C Missense 3/3 - 6
2-219000231-G-A c.707G>A p.R236H Missense 3/3 - 6
2-219000234-C-T c.710C>T p.T237M Missense 3/3 - 8
2-219000237-T-G c.713T>G p.L238R Missense 3/3 - 1
2-219000236-C-T c.712C>T p.L238= Synonymous 3/3 - 1
2-219000238-G-A c.714G>A p.L238= Synonymous 3/3 - 1
2-219000238-G-C c.714G>C p.L238= Synonymous 3/3 - 1
2-219000238-G-T c.714G>T p.L238= Synonymous 3/3 - 1
2-219000245-G-A c.721G>A p.A241T Missense 3/3 - 3
2-219000245-G-T c.721G>T p.A241S Missense 3/3 - 1
2-219000247-C-T c.723C>T p.A241= Synonymous 3/3 - 1
2-219000253-G-A c.729G>A p.M243I Missense 3/3 - 2
2-219000253-G-C c.729G>C p.M243I Missense 3/3 - 1
2-219000253-G-T c.729G>T p.M243I Missense 3/3 - 1
2-219000254-G-A c.730G>A p.G244R Missense 3/3 - 2
2-219000255-G-A c.731G>A p.G244E Missense 3/3 - 2
2-219000266-C-T c.742C>T p.R248W Missense 3/3 - 2
2-219000267-G-A c.743G>A p.R248Q Missense 3/3 - 11
2-219000267-G-T c.743G>T p.R248L Missense 3/3 - 1
2-219000268-G-A c.744G>A p.R248= Synonymous 3/3 - 3
2-219000269-GC-CT c.745_746delinsCT p.A249L Missense 3/3 - 2
2-219000272-A-C c.748A>C p.M250L Missense 3/3 - 1
2-219000275-C-A c.751C>A p.R251= Synonymous 3/3 - 2
2-219000275-C-T c.751C>T p.R251W Missense 3/3 - 2
2-219000277-G-A c.753G>A p.R251= Synonymous 3/3 - 1
2-219000277-G-C c.753G>C p.R251= Synonymous 3/3 - 1
2-219000277-G-T c.753G>T p.R251= Synonymous 3/3 - 1
2-219000276-G-A c.752G>A p.R251Q Missense 3/3 - 1
2-219000276-G-T c.752G>T p.R251L Missense 3/3 - 1
2-219000278-G-T c.754G>T p.V252F Missense 3/3 - 3
2-219000280-C-T c.756C>T p.V252= Synonymous 3/3 - 4
2-219000283-C-A c.759C>A p.I253= Synonymous 3/3 - 1
2-219000283-C-T c.759C>T p.I253= Synonymous 3/3 - 1
2-219000288-C-T c.764C>T p.A255V Missense 3/3 - 7
2-219000292-C-A c.768C>A p.V256= Synonymous 3/3 - 1
2-219000292-C-G c.768C>G p.V256= Synonymous 3/3 - 7
2-219000292-C-T c.768C>T p.V256= Synonymous 3/3 - 7
2-219000293-G-A c.769G>A p.V257I Missense 3/3 - 1
2-219000298-C-T c.774C>T p.L258= Synonymous 3/3 - 2
2-219000301-C-A c.777C>A p.I259= Synonymous 3/3 - 1
2-219000301-C-T c.777C>T p.I259= Synonymous 3/3 - 1
2-219000302-T-G c.778T>G p.F260V Missense 3/3 - 1
2-219000302-TT-GC c.778_779delinsGC p.F260A Missense 3/3 - 1
2-219000304-C-T c.780C>T p.F260= Synonymous 3/3 - 1
2-219000308-C-T c.784C>T p.L262F Missense 3/3 - 1
2-219000310-C-A c.786C>A p.L262= Synonymous 3/3 - 5
2-219000310-C-G c.786C>G p.L262= Synonymous 3/3 - 5
2-219000310-C-T c.786C>T p.L262= Synonymous 3/3 - 54
2-219000311-T-C c.787T>C p.C263R Missense 3/3 - 1
2-219000317-C-T c.793C>T p.L265= Synonymous 3/3 - 2
2-219000319-G-A c.795G>A p.L265= Synonymous 3/3 - 1
2-219000319-G-C c.795G>C p.L265= Synonymous 3/3 - 1
2-219000319-G-T c.795G>T p.L265= Synonymous 3/3 - 1
2-219000338-C-T c.814C>T p.L272= Synonymous 3/3 - 1
2-219000340-G-A c.816G>A p.L272= Synonymous 3/3 - 1
2-219000340-G-C c.816G>C p.L272= Synonymous 3/3 - 1
2-219000340-G-T c.816G>T p.L272= Synonymous 3/3 - 1
2-219000352-C-A c.828C>A p.L276= Synonymous 3/3 - 1
2-219000352-C-G c.828C>G p.L276= Synonymous 3/3 - 1
2-219000352-C-T c.828C>T p.L276= Synonymous 3/3 - 1
2-219000354-T-C c.830T>C p.M277T Missense 3/3 - 3
2-219000356-AG-CA c.832_833delinsCA p.R278Q Missense 3/3 - 1
2-219000367-G-A c.843G>A p.V281= Synonymous 3/3 - 3
2-219000370-C-T c.846C>T p.I282= Synonymous 3/3 - 2
2-219000371-C-G c.847C>G p.Q283E Missense 3/3 - 1
2-219000374-G-A c.850G>A p.E284K Missense 3/3 - 6
2-219000376-G-A c.852G>A p.E284= Synonymous 3/3 - 1
2-219000380-T-C c.856T>C p.C286R Missense 3/3 - 4
2-219000380-TG-AC c.856_857delinsAC p.C286T Missense 3/3 - 1
2-219000383-G-A c.859G>A p.E287K Missense 3/3 - 1
2-219000386-C-A c.862C>A p.R288S Missense 3/3 - 4
2-219000386-C-T c.862C>T p.R288C Missense 3/3 - 5
2-219000387-G-A c.863G>A p.R288H Missense 3/3 - 4
2-219000389-C-T c.865C>T p.R289C Missense 3/3 - 6
2-219000390-G-A c.866G>A p.R289H Missense 3/3 - 2
2-219000394-T-C c.870T>C p.N290= Synonymous 3/3 - 1
2-219000399-T-A c.875T>A p.I292N Missense 3/3 - 1
2-219000399-T-C c.875T>C p.I292T Missense 3/3 - 6
2-219000400-C-A c.876C>A p.I292= Synonymous 3/3 - 2
2-219000400-C-T c.876C>T p.I292= Synonymous 3/3 - 5
2-219000400-C-CG c.877dup p.D293Gfs*74 Frameshift 3/3 - 3
2-219000401-G-A c.877G>A p.D293N Missense 3/3 - 1
2-219000404-C-T c.880C>T p.R294W Missense 3/3 - 1
2-219000405-G-A c.881G>A p.R294Q Missense 3/3 - 2
2-219000407-G-C c.883G>C p.A295P Missense 3/3 - 4
2-219000407-G-T c.883G>T p.A295S Missense 3/3 - 1
2-219000408-C-T c.884C>T p.A295V Missense 3/3 - 9
2-219000410-C-T c.886C>T p.L296= Synonymous 3/3 - 1
2-219000412-G-A c.888G>A p.L296= Synonymous 3/3 - 1
2-219000412-G-C c.888G>C p.L296= Synonymous 3/3 - 1
2-219000412-G-T c.888G>T p.L296= Synonymous 3/3 - 1
2-219000417-C-T c.893C>T p.A298V Missense 3/3 - 1
2-219000421-C-A c.897C>A p.T299= Synonymous 3/3 - 1
2-219000421-C-G c.897C>G p.T299= Synonymous 3/3 - 1
2-219000421-C-T c.897C>T p.T299= Synonymous 3/3 - 1
2-219000422-G-A c.898G>A p.E300K Missense 3/3 - 5
2-219000422-G-C c.898G>C p.E300Q Missense 3/3 - 1
2-219000424-G-A c.900G>A p.E300= Synonymous 3/3 - 3
2-219000432-G-C c.908G>C p.G303A Missense 3/3 - 1
2-219000437-C-T c.913C>T p.L305F Missense 3/3 - 2
2-219000440-C-T c.916C>T p.H306Y Missense 3/3 - 5
2-219000444-G-T c.920G>T p.S307I Missense 3/3 - 1
2-219000447-G-A c.923G>A p.C308Y Missense 3/3 - 1
2-219000455-C-T c.931C>T p.P311S Missense 3/3 - 5
2-219000457-C-T c.933C>T p.P311= Synonymous 3/3 - 1
2-219000453-A-AC c.934dup p.L312Pfs*55 Frameshift 3/3 - 1
2-219000453-AC-A c.934del p.L312Sfs*18 Frameshift 3/3 - 1
2-219000460-C-A c.936C>A p.L312= Synonymous 3/3 - 1
2-219000460-C-G c.936C>G p.L312= Synonymous 3/3 - 1
2-219000460-C-T c.936C>T p.L312= Synonymous 3/3 - 3
2-219000464-TA-GC c.940_941delinsGC p.Y314A Missense 3/3 - 1
2-219000466-C-A c.942C>A p.Y314* Nonsense 3/3 - 1
2-219000466-C-G c.942C>G p.Y314* Nonsense 3/3 - 1
2-219000467-G-A c.943G>A p.A315T Missense 3/3 - 3
2-219000470-T-G c.946T>G p.F316V Missense 3/3 - 1
2-219000482-AA-GC c.958_959delinsGC p.K320A Missense 3/3 - 1
2-219000483-A-C c.959A>C p.K320T Missense 3/3 - 1
2-219000484-G-C c.960G>C p.K320N Missense 3/3 - 1
2-219000484-G-T c.960G>T p.K320N Missense 3/3 - 1
2-219000485-TT-GC c.961_962delinsGC p.F321A Missense 3/3 - 1
2-219000488-C-A c.964C>A p.R322S Missense 3/3 - 1
2-219000488-CGC-AAG c.964_966delinsAAG p.R322K Missense 3/3 - 1
2-219000488-C-T c.964C>T p.R322C Missense 3/3 - 13
2-219000489-G-A c.965G>A p.R322H Missense 3/3 - 1
2-219000489-G-T c.965G>T p.R322L Missense 3/3 - 1
2-219000491-CAT-TAA c.967_969delinsTAA p.H323* Nonsense 3/3 - 1
2-219000492-CA-C c.968del p.H323Lfs*7 Frameshift 3/3 - 2
2-219000493-ATG-A c.969_970del p.H323Qfs*43 Frameshift 3/3 - 2
2-219000494-G-A c.970G>A p.G324R Missense 3/3 - 1
2-219000494-G-C c.970G>C p.G324R Missense 3/3 - 1
2-219000495-G-A c.971G>A p.G324E Missense 3/3 - 6
2-219000496-A-G c.972A>G p.G324= Synonymous 3/3 - 1
2-219000499-C-T c.975C>T p.L325= Synonymous 3/3 - 1
2-219000502-C-A c.978C>A p.L326= Synonymous 3/3 - 1
2-219000502-C-G c.978C>G p.L326= Synonymous 3/3 - 1
2-219000502-C-T c.978C>T p.L326= Synonymous 3/3 - 1
2-219000504-A-G c.980A>G p.K327R Missense 3/3 - 3
2-219000505-G-C c.981G>C p.K327N Missense 3/3 - 1
2-219000505-G-T c.981G>T p.K327N Missense 3/3 - 1
2-219000509-C-A c.985C>A p.L329I Missense 3/3 - 1
2-219000509-C-T c.985C>T p.L329= Synonymous 3/3 - 1
2-219000511-A-C c.987A>C p.L329= Synonymous 3/3 - 1
2-219000511-A-G c.987A>G p.L329= Synonymous 3/3 - 1
2-219000511-A-T c.987A>T p.L329= Synonymous 3/3 - 1
2-219000513-C-A c.989C>A p.A330D Missense 3/3 - 1
2-219000514-T-A c.990T>A p.A330= Synonymous 3/3 - 1
2-219000514-T-C c.990T>C p.A330= Synonymous 3/3 - 1
2-219000514-T-G c.990T>G p.A330= Synonymous 3/3 - 1
2-219000517-A-G c.993A>G p.I331M Missense 3/3 - 4
2-219000519-A-G c.995A>G p.H332R Missense 3/3 - 3
2-219000520-T-C c.996T>C p.H332= Synonymous 3/3 - 3
2-219000521-G-T c.997G>T p.G333C Missense 3/3 - 1
2-219000524-TT-GG c.1000_1001delinsGG p.L334G Missense 3/3 - 1
2-219000534-A-G c.1010A>G p.K337R Missense 3/3 - 1
2-219000540-C-T c.1016C>T p.S339F Missense 3/3 - 3
2-219000541-C-T c.1017C>T p.S339= Synonymous 3/3 - 1
2-219000563-T-G c.1039T>G p.S347A Missense 3/3 - 1
2-219000564-C-T c.1040C>T p.S347F Missense 3/3 - 6
2-219000565-C-A c.1041C>A p.S347= Synonymous 3/3 - 2
2-219000565-C-G c.1041C>G p.S347= Synonymous 3/3 - 2
2-219000565-C-T c.1041C>T p.S347= Synonymous 3/3 - 2
2-219000570-T-G c.1046T>G p.V349G Missense 3/3 - 1
2-219000574-C-A c.1050C>A p.G350= Synonymous 3/3 - 1
2-219000574-C-G c.1050C>G p.G350= Synonymous 3/3 - 1
2-219000574-C-T c.1050C>T p.G350= Synonymous 3/3 - 1
2-219000578-T-C c.1054T>C p.S352P Missense 3/3 - 1
2-219000580-T-A c.1056T>A p.S352= Synonymous 3/3 - 1
2-219000580-T-C c.1056T>C p.S352= Synonymous 3/3 - 2
2-219000580-T-G c.1056T>G p.S352= Synonymous 3/3 - 1
2-219000582-C-A c.1058C>A p.S353* Nonsense 3/3 - 2
2-219000584-G-T c.1060G>T p.G354W Missense 3/3 - 6
2-219000587-C-A c.1063C>A p.H355N Missense 3/3 - 4
2-219000591-C-T c.1067C>T p.T356I Missense 3/3 - 1
2-219000594-C-T c.1070C>T p.S357F Missense 3/3 - 1
2-219000597-C-T c.1073C>T p.T358I Missense 3/3 - 1
2-219000598-T-A c.1074T>A p.T358= Synonymous 3/3 - 1
2-219000598-T-C c.1074T>C p.T358= Synonymous 3/3 - 1
2-219000598-T-G c.1074T>G p.T358= Synonymous 3/3 - 1
2-219000599-A-T c.1075A>T p.T359S Missense 3/3 - 5
2-219000600-C-G c.1076C>G p.T359S Missense 3/3 - 2
2-219000602-C-T c.1078C>T p.L360F Missense 3/3 - 1
2-219000628-C-T c.*21C>T - 3-UTRSNV 3/3 - 1
2-219000634-G-A c.*27G>A - 3-UTRSNV 3/3 - 1
2-219000734-T-C c.*127T>C - 3-UTRSNV 3/3 - 64
2-219000945-A-G c.*338A>G - 3-UTRSNV 3/3 - 1
2-219000966-G-A c.*359G>A - 3-UTRSNV 3/3 - 26
2-219000966-G-T c.*359G>T - 3-UTRSNV 3/3 - 26
2-219001753-G-A c.*1146G>A - 3-UTRSNV 3/3 - 1