ZC3H7B

ZC3H7B zinc finger CCCH-type containing 7B

Annotation transcript: NM_017590.6

969 unique variant annotations were identified in 338 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
22-41697614-G-A c.-169G>A - 5_prime_UTR_variant 1/23 - 1
22-41697614-G-T c.-169G>T - 5_prime_UTR_variant 1/23 - 1
22-41698896-A-C c.-7+1120A>C - intron_variant - 1/22 1
22-41698896-A-T c.-7+1120A>T - intron_variant - 1/22 1
22-41701341-T-A c.-7+3565T>A - intron_variant - 1/22 1
22-41701341-T-C c.-7+3565T>C - intron_variant - 1/22 1
22-41701341-T-G c.-7+3565T>G - intron_variant - 1/22 1
22-41703804-A-G c.-7+6028A>G - intron_variant - 1/22 1
22-41716665-A-G c.1A>G p.M1? Missense 2/23 - 1
22-41716673-G-A c.9G>A p.R3= Synonymous 2/23 - 1
22-41716676-G-A c.12G>A p.Q4= Synonymous 2/23 - 1
22-41716679-A-G c.15A>G p.K5= Synonymous 2/23 - 1
22-41716680-C-A c.16C>A p.R6= Synonymous 2/23 - 1
22-41716682-G-C c.18G>C p.R6= Synonymous 2/23 - 1
22-41716682-G-T c.18G>T p.R6= Synonymous 2/23 - 1
22-41716681-G-A c.17G>A p.R6Q Missense 2/23 - 2
22-41716682-G-A c.18G>A p.R6= Synonymous 2/23 - 2
22-41716686-G-T c.22G>T p.A8S Missense 2/23 - 1
22-41716691-C-T c.27C>T p.D9= Synonymous 2/23 - 2
22-41716694-C-A c.30C>A p.I10= Synonymous 2/23 - 1
22-41716694-C-T c.30C>T p.I10= Synonymous 2/23 - 4
22-41716705-T-C c.41T>C p.L14P Missense 2/23 - 1
22-41716713-A-G c.49A>G p.I17V Missense 2/23 - 1
22-41716713-A-T c.49A>T p.I17F Missense 2/23 - 2
22-41716745-C-T c.53+28C>T - IntronicSNV - 2/22 1
22-41716798-C-T c.53+81C>T - IntronicSNV - 2/22 1
22-41717120-CTGG-C c.53+403_53+405del - IntronicDeletion - 2/22 1
22-41718349-A-G c.53+1632A>G - IntronicSNV - 2/22 1
22-41718353-A-G c.53+1636A>G - IntronicSNV - 2/22 1
22-41718363-C-T c.53+1646C>T - IntronicSNV - 2/22 1
22-41718478-C-T c.53+1761C>T - IntronicSNV - 2/22 2
22-41718549-T-C c.53+1832T>C - IntronicSNV - 2/22 1
22-41718696-G-A c.53+1979G>A - IntronicSNV - 2/22 1
22-41718757-A-G c.53+2040A>G - IntronicSNV - 2/22 2
22-41719111-G-T c.53+2394G>T - IntronicSNV - 2/22 1
22-41719469-C-T c.54-2099C>T - IntronicSNV - 2/22 1
22-41720697-A-G c.54-871A>G - IntronicSNV - 2/22 1
22-41720728-G-C c.54-840G>C - IntronicSNV - 2/22 1
22-41721515-T-C c.54-53T>C - IntronicSNV - 2/22 1
22-41721569-T-G c.55T>G p.S19A Missense 3/23 - 1
22-41721570-C-T c.56C>T p.S19L Missense 3/23 - 2
22-41721572-A-T c.58A>T p.T20S Missense 3/23 - 1
22-41721580-C-T c.66C>T p.P22= Synonymous 3/23 - 3
22-41721588-A-G c.74A>G p.Q25R Missense 3/23 - 1
22-41721730-T-A c.93T>A p.F31L Missense 4/23 - 1
22-41721731-C-T c.94C>T p.L32= Synonymous 4/23 - 1
22-41721733-G-A c.96G>A p.L32= Synonymous 4/23 - 1
22-41721733-G-C c.96G>C p.L32= Synonymous 4/23 - 1
22-41721733-G-T c.96G>T p.L32= Synonymous 4/23 - 1
22-41721741-T-C c.104T>C p.L35P Missense 4/23 - 1
22-41721747-A-C c.110A>C p.Q37P Missense 4/23 - 1
22-41721753-T-A c.116T>A p.L39Q Missense 4/23 - 1
22-41721761-G-A c.124G>A p.E42K Missense 4/23 - 1
22-41721768-A-G c.131A>G p.N44S Missense 4/23 - 1
22-41721773-C-T c.136C>T p.L46= Synonymous 4/23 - 1
22-41721776-T-A c.139T>A p.F47I Missense 4/23 - 2
22-41721779-C-T c.142C>T p.R48W Missense 4/23 - 1
22-41721792-A-T c.155A>T p.Y52F Missense 4/23 - 1
22-41721795-A-G c.158A>G p.K53R Missense 4/23 - 2
22-41721798-A-G c.161A>G p.Q54R Missense 4/23 - 1
22-41721801-C-T c.164C>T p.A55V Missense 4/23 - 1
22-41721808-G-A c.171G>A p.V57= Synonymous 4/23 - 1
22-41721808-G-T c.171G>T p.V57= Synonymous 4/23 - 1
22-41721809-C-T c.172C>T p.Q58* Nonsense 4/23 - 1
22-41721814-C-A c.177C>A p.Y59* Nonsense 4/23 - 1
22-41721814-C-G c.177C>G p.Y59* Nonsense 4/23 - 1
22-41721816-T-C c.179T>C p.M60T Missense 4/23 - 1
22-41721828-A-G c.191A>G p.N64S Missense 4/23 - 1
22-41721829-C-T c.192C>T p.N64= Synonymous 4/23 - 1
22-41721833-G-T c.196G>T p.A66S Missense 4/23 - 1
22-41721836-G-A c.199G>A p.D67N Missense 4/23 - 2
22-41721836-G-T c.199G>T p.D67Y Missense 4/23 - 1
22-41721843-CT-AG c.206_207inv p.A69E Missense 4/23 - 1
22-41721847-C-T c.210C>T p.A70= Synonymous 4/23 - 2
22-41721848-T-C c.211T>C p.S71P Missense 4/23 - 1
22-41721849-C-A c.212C>A p.S71Y Missense 4/23 - 1
22-41721849-C-T c.212C>T p.S71F Missense 4/23 - 1
22-41721852-A-G c.215A>G p.D72G Missense 4/23 - 1
22-41721853-C-T c.216C>T p.D72= Synonymous 4/23 - 2
22-41721856-G-A c.219G>A p.Q73= Synonymous 4/23 - 1
22-41721856-G-C c.219G>C p.Q73H Missense 4/23 - 1
22-41721856-G-T c.219G>T p.Q73H Missense 4/23 - 1
22-41721860-G-A c.223G>A p.A75T Missense 4/23 - 1
22-41721867-C-T c.230C>T p.P77L Missense 4/23 - 3
22-41721869-CG-AA c.232_233delinsAA p.R78K Missense 4/23 - 1
22-41721875-C-A c.238C>A p.L80M Missense 4/23 - 1
22-41721876-T-C c.239T>C p.L80P Missense 4/23 - 1
22-41721881-T-C c.244T>C p.C82R Missense 4/23 - 1
22-41721881-T-G c.244T>G p.C82G Missense 4/23 - 1
22-41721883-C-T c.246C>T p.C82= Synonymous 4/23 - 1
22-41721891-A-G c.254A>G p.H85R Missense 4/23 - 1
22-41721897-A-G c.260A>G p.N87S Missense 4/23 - 1
22-41721900-G-A c.263G>A p.R88K Missense 4/23 - 1
22-41721902-GC-TG c.265_266delinsTG p.A89C Missense 4/23 - 1
22-41721903-C-T c.266C>T p.A89V Missense 4/23 - 1
22-41721904-C-A c.267C>A p.A89= Synonymous 4/23 - 1
22-41721912-A-G c.275A>G p.Y92C Missense 4/23 - 1
22-41722444-A-G c.285+522A>G - IntronicSNV - 4/22 1
22-41722864-T-C c.286-346T>C - IntronicSNV - 4/22 2
22-41723113-G-A c.286-97G>A - IntronicSNV - 4/22 1
22-41723210-GG-AC c.286_287delinsAC p.G96T Missense 5/23 - 1
22-41723210-G-T c.286G>T p.G96C Missense 5/23 - 1
22-41723227-G-A c.303G>A p.A101= Synonymous 5/23 - 1
22-41723227-G-C c.303G>C p.A101= Synonymous 5/23 - 1
22-41723227-G-T c.303G>T p.A101= Synonymous 5/23 - 1
22-41723231-G-A c.307G>A p.E103K Missense 5/23 - 2
22-41723233-G-T c.309G>T p.E103D Missense 5/23 - 1
22-41723234-G-A c.310G>A p.D104N Missense 5/23 - 1
22-41723237-A-G c.313A>G p.S105G Missense 5/23 - 2
22-41723243-A-G c.319A>G p.K107E Missense 5/23 - 1
22-41723244-A-T c.320A>T p.K107M Missense 5/23 - 2
22-41723245-G-C c.321G>C p.K107N Missense 5/23 - 1
22-41723245-G-T c.321G>T p.K107N Missense 5/23 - 1
22-41723253-G-T c.329G>T p.G110V Missense 5/23 - 1
22-41723255-C-T c.331C>T p.L111= Synonymous 5/23 - 2
22-41723257-G-A c.333G>A p.L111= Synonymous 5/23 - 2
22-41723257-G-C c.333G>C p.L111= Synonymous 5/23 - 2
22-41723257-G-T c.333G>T p.L111= Synonymous 5/23 - 2
22-41723261-AG-TT c.337_338delinsTT p.S113F Missense 5/23 - 1
22-41723263-T-C c.339T>C p.S113= Synonymous 5/23 - 1
22-41723266-G-C c.342G>C p.E114D Missense 5/23 - 1
22-41723271-T-G c.347T>G p.I116S Missense 5/23 - 1
22-41723272-C-G c.348C>G p.I116M Missense 5/23 - 1
22-41723272-C-T c.348C>T p.I116= Synonymous 5/23 - 1
22-41723277-C-T c.353C>T p.A118V Missense 5/23 - 2
22-41723285-C-T c.361C>T p.R121C Missense 5/23 - 1
22-41723291-G-T c.367G>T p.A123S Missense 5/23 - 1
22-41723290-GGCAC-G c.369_372del p.R124Lfs*28 Frameshift 5/23 - 1
22-41723294-C-G c.370C>G p.R124G Missense 5/23 - 1
22-41723294-C-T c.370C>T p.R124C Missense 5/23 - 1
22-41723295-G-A c.371G>A p.R124H Missense 5/23 - 2
22-41723295-G-T c.371G>T p.R124L Missense 5/23 - 1
22-41723297-G-A c.373G>A p.A125T Missense 5/23 - 2
22-41723297-G-C c.373G>C p.A125P Missense 5/23 - 1
22-41723310-T-A c.386T>A p.L129Q Missense 5/23 - 3
22-41723313-G-T c.389G>T p.G130V Missense 5/23 - 1
22-41723315-C-A c.391C>A p.R131S Missense 5/23 - 1
22-41723329-C-T c.405C>T p.A135= Synonymous 5/23 - 1
22-41723332-C-A c.408C>A p.Y136* Nonsense 5/23 - 1
22-41723332-C-G c.408C>G p.Y136* Nonsense 5/23 - 1
22-41723332-C-T c.408C>T p.Y136= Synonymous 5/23 - 1
22-41723333-G-A c.409G>A p.E137K Missense 5/23 - 2
22-41723341-C-G c.417C>G p.S139R Missense 5/23 - 1
22-41723341-C-T c.417C>T p.S139= Synonymous 5/23 - 1
22-41723342-A-G c.418A>G p.S140G Missense 5/23 - 1
22-41723345-C-T c.421C>T p.R141W Missense 5/23 - 2
22-41723346-G-A c.422G>A p.R141Q Missense 5/23 - 1
22-41723354-C-A c.430C>A p.L144I Missense 5/23 - 1
22-41723357-G-A c.433G>A p.A145T Missense 5/23 - 4
22-41723357-G-C c.433G>C p.A145P Missense 5/23 - 1
22-41725180-C-G c.445-847C>G - IntronicSNV - 5/22 1
22-41725857-C-CA c.445-169dup - IntronicInsertion - 5/22 1
22-41726024-C-T c.445-3C>T - IntronicSNV - 5/22 1
22-41726035-C-T c.453C>T p.S151= Synonymous 6/23 - 1
22-41726039-GACT-G c.457_459del p.T153del InFrameDeletion 6/23 - 2
22-41726045-C-G c.463C>G p.L155V Missense 6/23 - 1
22-41726046-T-A c.464T>A p.L155H Missense 6/23 - 1
22-41726047-T-A c.465T>A p.L155= Synonymous 6/23 - 1
22-41726047-T-C c.465T>C p.L155= Synonymous 6/23 - 1
22-41726047-T-G c.465T>G p.L155= Synonymous 6/23 - 1
22-41726049-G-A c.467G>A p.G156D Missense 6/23 - 1
22-41726049-G-T c.467G>T p.G156V Missense 6/23 - 2
22-41726053-G-A c.471G>A p.Q157= Synonymous 6/23 - 9
22-41726053-G-C c.471G>C p.Q157H Missense 6/23 - 1
22-41726053-G-T c.471G>T p.Q157H Missense 6/23 - 1
22-41726054-G-T c.472G>T p.E158* Nonsense 6/23 - 1
22-41726058-T-A c.476T>A p.L159Q Missense 6/23 - 1
22-41726065-G-A c.483G>A p.Q161= Synonymous 6/23 - 3
22-41726072-G-A c.490G>A p.G164R Missense 6/23 - 1
22-41726072-G-C c.490G>C p.G164R Missense 6/23 - 1
22-41726074-G-A c.492G>A p.G164= Synonymous 6/23 - 1
22-41726076-CTGCGAGTTCG-C c.494_503del p.L165Pfs*36 Frameshift 6/23 - 1
22-41726078-C-A c.496C>A p.R166= Synonymous 6/23 - 1
22-41726080-A-C c.498A>C p.R166= Synonymous 6/23 - 1
22-41726080-A-G c.498A>G p.R166= Synonymous 6/23 - 1
22-41726080-A-T c.498A>T p.R166= Synonymous 6/23 - 2
22-41726084-C-T c.502C>T p.R168C Missense 6/23 - 2
22-41726085-GC-AA c.503_504delinsAA p.R168Q Missense 6/23 - 1
22-41726086-C-A c.504C>A p.R168= Synonymous 6/23 - 1
22-41726090-G-A c.508G>A p.A170T Missense 6/23 - 2
22-41726091-C-T c.509C>T p.A170V Missense 6/23 - 1
22-41726092-G-A c.510G>A p.A170= Synonymous 6/23 - 2
22-41726098-G-C c.516G>C p.K172N Missense 6/23 - 1
22-41726098-G-T c.516G>T p.K172N Missense 6/23 - 1
22-41726099-A-G c.517A>G p.R173G Missense 6/23 - 3
22-41726099-AGG-CAT c.517_519delinsCAT p.R173H Missense 6/23 - 1
22-41726102-C-T c.520C>T p.P174S Missense 6/23 - 2
22-41726109-T-C c.525+2T>C - IntronicSNV - 6/22 2
22-41726277-T-A c.525+170T>A - IntronicSNV - 6/22 1
22-41726803-T-G c.525+696T>G - IntronicSNV - 6/22 1
22-41727031-G-A c.525+924G>A - IntronicSNV - 6/22 1
22-41727260-T-A c.526-915T>A - IntronicSNV - 6/22 1
22-41728175-G-A c.526G>A p.E176K Missense 7/23 - 1
22-41728187-T-C c.538T>C p.F180L Missense 7/23 - 1
22-41728189-T-A c.540T>A p.F180L Missense 7/23 - 1
22-41728189-T-G c.540T>G p.F180L Missense 7/23 - 1
22-41728200-G-A c.551G>A p.S184N Missense 7/23 - 1
22-41728218-G-A c.569G>A p.G190D Missense 7/23 - 3
22-41728220-G-A c.571G>A p.V191M Missense 7/23 - 2
22-41728229-C-T c.580C>T p.Q194* Nonsense 7/23 - 5
22-41728239-C-T c.582+8C>T - IntronicSNV - 7/22 1
22-41728268-C-T c.582+37C>T - IntronicSNV - 7/22 1
22-41728342-C-T c.582+111C>T - IntronicSNV - 7/22 1
22-41728387-A-C c.582+156A>C - IntronicSNV - 7/22 1
22-41728620-T-C c.582+389T>C - IntronicSNV - 7/22 2
22-41728620-T-G c.582+389T>G - IntronicSNV - 7/22 2
22-41729216-G-A c.582+985G>A - IntronicSNV - 7/22 3
22-41729216-G-T c.582+985G>T - IntronicSNV - 7/22 3
22-41729294-T-G c.582+1063T>G - IntronicSNV - 7/22 1
22-41732389-T-C c.583-1928T>C - IntronicSNV - 7/22 1
22-41733895-A-G c.583-422A>G - IntronicSNV - 7/22 1
22-41733895-A-T c.583-422A>T - IntronicSNV - 7/22 1
22-41734324-C-T c.590C>T p.S197F Missense 8/23 - 1
22-41734332-T-C c.598T>C p.L200= Synonymous 8/23 - 1
22-41734334-G-A c.600G>A p.L200= Synonymous 8/23 - 1
22-41734339-C-T c.605C>T p.S202F Missense 8/23 - 1
22-41734340-C-T c.606C>T p.S202= Synonymous 8/23 - 4
22-41734353-G-A c.619G>A p.E207K Missense 8/23 - 1
22-41734353-G-C c.619G>C p.E207Q Missense 8/23 - 3
22-41734353-GA-G c.622del p.T208Qfs*84 Frameshift 8/23 - 1
22-41734357-C-G c.623C>G p.T208R Missense 8/23 - 1
22-41734536-G-A c.625+177G>A - IntronicSNV - 8/22 1
22-41734757-T-C c.626-248T>C - IntronicSNV - 8/22 1
22-41735009-C-A c.630C>A p.C210* Nonsense 9/23 - 1
22-41735013-G-A c.634G>A p.V212M Missense 9/23 - 2
22-41735013-GTG-ATC c.634_636delinsATC p.V212I Missense 9/23 - 1
22-41735017-A-G c.638A>G p.D213G Missense 9/23 - 1
22-41735022-C-T c.643C>T p.R215* Nonsense 9/23 - 1
22-41735027-C-A c.648C>A p.G216= Synonymous 9/23 - 1
22-41735027-C-G c.648C>G p.G216= Synonymous 9/23 - 1
22-41735027-C-T c.648C>T p.G216= Synonymous 9/23 - 1
22-41735030-C-A c.651C>A p.S217= Synonymous 9/23 - 2
22-41735030-C-G c.651C>G p.S217= Synonymous 9/23 - 1
22-41735030-C-T c.651C>T p.S217= Synonymous 9/23 - 1
22-41735032-C-T c.653C>T p.P218L Missense 9/23 - 1
22-41735033-A-C c.654A>C p.P218= Synonymous 9/23 - 2
22-41735033-A-G c.654A>G p.P218= Synonymous 9/23 - 2
22-41735033-A-T c.654A>T p.P218= Synonymous 9/23 - 2
22-41735040-CT-AG c.661_662inv p.L221S Missense 9/23 - 1
22-41735040-C-CT c.662dup p.S223Lfs*32 Frameshift 9/23 - 1
22-41735041-T-C c.662T>C p.L221P Missense 9/23 - 1
22-41735042-C-T c.663C>T p.L221= Synonymous 9/23 - 6
22-41735043-C-T c.664C>T p.P222S Missense 9/23 - 1
22-41735047-C-T c.668C>T p.S223F Missense 9/23 - 5
22-41735049-A-C c.670A>C p.T224P Missense 9/23 - 1
22-41735050-C-T c.671C>T p.T224M Missense 9/23 - 1
22-41735051-G-A c.672G>A p.T224= Synonymous 9/23 - 3
22-41735051-G-C c.672G>C p.T224= Synonymous 9/23 - 2
22-41735051-G-T c.672G>T p.T224= Synonymous 9/23 - 2
22-41735055-A-C c.676A>C p.T226P Missense 9/23 - 1
22-41735055-A-G c.676A>G p.T226A Missense 9/23 - 2
22-41735056-C-A c.677C>A p.T226K Missense 9/23 - 1
22-41735056-C-T c.677C>T p.T226M Missense 9/23 - 1
22-41735057-G-A c.678G>A p.T226= Synonymous 9/23 - 1
22-41735057-G-C c.678G>C p.T226= Synonymous 9/23 - 1
22-41735057-G-T c.678G>T p.T226= Synonymous 9/23 - 1
22-41735060-G-A c.681G>A p.M227I Missense 9/23 - 1
22-41735061-C-A c.682C>A p.P228T Missense 9/23 - 1
22-41735061-C-T c.682C>T p.P228S Missense 9/23 - 6
22-41735062-C-T c.683C>T p.P228L Missense 9/23 - 1
22-41735063-C-G c.684C>G p.P228= Synonymous 9/23 - 1
22-41735065-T-A c.686T>A p.L229Q Missense 9/23 - 1
22-41735065-T-G c.686T>G p.L229R Missense 9/23 - 2
22-41735064-C-T c.685C>T p.L229= Synonymous 9/23 - 1
22-41735066-G-A c.687G>A p.L229= Synonymous 9/23 - 2
22-41735066-G-C c.687G>C p.L229= Synonymous 9/23 - 1
22-41735066-G-T c.687G>T p.L229= Synonymous 9/23 - 1
22-41735067-T-C c.688T>C p.F230L Missense 9/23 - 1
22-41735069-C-A c.690C>A p.F230L Missense 9/23 - 1
22-41735069-C-G c.690C>G p.F230L Missense 9/23 - 1
22-41735068-T-A c.689T>A p.F230Y Missense 9/23 - 7
22-41735069-C-T c.690C>T p.F230= Synonymous 9/23 - 1
22-41735070-C-G c.691C>G p.P231A Missense 9/23 - 2
22-41735070-C-T c.691C>T p.P231S Missense 9/23 - 2
22-41735072-T-A c.693T>A p.P231= Synonymous 9/23 - 2
22-41735072-T-C c.693T>C p.P231= Synonymous 9/23 - 2
22-41735072-T-G c.693T>G p.P231= Synonymous 9/23 - 2
22-41735072-T-TC c.694dup p.H232Pfs*23 Frameshift 9/23 - 1
22-41735075-C-G c.696C>G p.H232Q Missense 9/23 - 2
22-41735076-G-T c.697G>T p.V233F Missense 9/23 - 2
22-41735077-T-C c.698T>C p.V233A Missense 9/23 - 1
22-41735080-T-G c.701T>G p.L234R Missense 9/23 - 2
22-41735082-G-A c.703G>A p.D235N Missense 9/23 - 1
22-41735091-G-C c.712G>C p.A238P Missense 9/23 - 2
22-41735092-C-T c.713C>T p.A238V Missense 9/23 - 5
22-41735093-C-T c.714C>T p.A238= Synonymous 9/23 - 1
22-41735091-GC-G c.718del p.L240Wfs*52 Frameshift 9/23 - 1
22-41735091-G-GC c.718dup p.L240Pfs*15 Frameshift 9/23 - 2
22-41735104-G-GGGGGGC c.725_726insGGGGGC p.S242delinsRGA MultiAAMissense 9/23 - 1
22-41735106-A-T c.727A>T p.S243C Missense 9/23 - 2
22-41735107-G-A c.728G>A p.S243N Missense 9/23 - 1
22-41735108-C-T c.729C>T p.S243= Synonymous 9/23 - 1
22-41735114-C-A c.735C>A p.T245= Synonymous 9/23 - 1
22-41735114-C-G c.735C>G p.T245= Synonymous 9/23 - 1
22-41735114-C-T c.735C>T p.T245= Synonymous 9/23 - 1
22-41735122-G-T c.743G>T p.S248I Missense 9/23 - 1
22-41735126-C-T c.747C>T p.T249= Synonymous 9/23 - 1
22-41735127-G-A c.748G>A p.D250N Missense 9/23 - 2
22-41735128-A-G c.749A>G p.D250G Missense 9/23 - 2
22-41735130-AGC-TGA c.751_753delinsTGA p.S251* Nonsense 9/23 - 1
22-41735139-G-A c.760G>A p.D254N Missense 9/23 - 1
22-41735139-G-T c.760G>T p.D254Y Missense 9/23 - 1
22-41735146-C-A c.767C>A p.S256* Nonsense 9/23 - 2
22-41735146-C-G c.767C>G p.S256* Nonsense 9/23 - 3
22-41735146-C-T c.767C>T p.S256L Missense 9/23 - 5
22-41735147-A-C c.768A>C p.S256= Synonymous 9/23 - 1
22-41735147-A-G c.768A>G p.S256= Synonymous 9/23 - 1
22-41735147-A-T c.768A>T p.S256= Synonymous 9/23 - 1
22-41735148-G-C c.769G>C p.D257H Missense 9/23 - 1
22-41735150-C-T c.771C>T p.D257= Synonymous 9/23 - 1
22-41735151-G-C c.772G>C p.G258R Missense 9/23 - 1
22-41735154-G-C c.775G>C p.D259H Missense 9/23 - 1
22-41735165-C-A c.786C>A p.G262= Synonymous 9/23 - 3
22-41735165-C-G c.786C>G p.G262= Synonymous 9/23 - 4
22-41735165-C-T c.786C>T p.G262= Synonymous 9/23 - 3
22-41735171-G-A c.792G>A p.E264= Synonymous 9/23 - 2
22-41735172-C-A c.793C>A p.L265M Missense 9/23 - 1
22-41735178-A-C c.799A>C p.T267P Missense 9/23 - 1
22-41735182-CT-C c.803del p.L268Pfs*24 Frameshift 9/23 - 1
22-41735184-C-T c.805C>T p.L269= Synonymous 9/23 - 2
22-41735186-G-A c.807G>A p.L269= Synonymous 9/23 - 1
22-41735186-G-C c.807G>C p.L269= Synonymous 9/23 - 1
22-41735186-G-T c.807G>T p.L269= Synonymous 9/23 - 1
22-41735187-G-A c.808G>A p.D270N Missense 9/23 - 1
22-41735187-G-T c.808G>T p.D270Y Missense 9/23 - 2
22-41735192-G-A c.813G>A p.S271= Synonymous 9/23 - 3
22-41735192-G-C c.813G>C p.S271= Synonymous 9/23 - 2
22-41735192-G-T c.813G>T p.S271= Synonymous 9/23 - 2
22-41735193-C-T c.814C>T p.L272= Synonymous 9/23 - 1
22-41735195-G-A c.816G>A p.L272= Synonymous 9/23 - 1
22-41735195-G-C c.816G>C p.L272= Synonymous 9/23 - 1
22-41735195-G-T c.816G>T p.L272= Synonymous 9/23 - 1
22-41735196-G-A c.816+1G>A - IntronicSNV - 9/22 1
22-41735826-G-A c.823G>A p.V275I Missense 10/23 - 3
22-41735845-G-A c.842G>A p.G281D Missense 10/23 - 1
22-41735849-C-T c.846C>T p.S282= Synonymous 10/23 - 3
22-41735851-G-C c.848G>C p.G283A Missense 10/23 - 1
22-41735853-G-A c.850G>A p.V284M Missense 10/23 - 1
22-41735860-G-A c.857G>A p.S286N Missense 10/23 - 2
22-41735859-A-C c.856A>C p.S286R Missense 10/23 - 1
22-41735861-T-A c.858T>A p.S286R Missense 10/23 - 1
22-41735861-T-G c.858T>G p.S286R Missense 10/23 - 1
22-41735862-G-A c.859G>A p.E287K Missense 10/23 - 1
22-41735865-T-C c.862T>C p.L288= Synonymous 10/23 - 1
22-41735867-G-A c.864G>A p.L288= Synonymous 10/23 - 1
22-41735869-C-T c.866C>T p.P289L Missense 10/23 - 1
22-41735871-C-T c.868C>T p.Q290* Nonsense 10/23 - 1
22-41735880-C-T c.877C>T p.P293S Missense 10/23 - 1
22-41735883-G-A c.880G>A p.V294M Missense 10/23 - 2
22-41735887-T-G c.884T>G p.F295C Missense 10/23 - 1
22-41735888-C-T c.885C>T p.F295= Synonymous 10/23 - 1
22-41735889-C-T c.886C>T p.P296S Missense 10/23 - 7
22-41735891-C-A c.888C>A p.P296= Synonymous 10/23 - 2
22-41735891-C-G c.888C>G p.P296= Synonymous 10/23 - 2
22-41735891-C-T c.888C>T p.P296= Synonymous 10/23 - 4
22-41735895-G-A c.892G>A p.G298R Missense 10/23 - 5
22-41735898-A-T c.895A>T p.T299S Missense 10/23 - 1
22-41735899-C-G c.896C>G p.T299S Missense 10/23 - 1
22-41735904-C-T c.901C>T p.L301= Synonymous 10/23 - 1
22-41735916-GTG-ATC c.913_915delinsATC p.V305I Missense 10/23 - 1
22-41735918-G-GT c.915_916insT p.V306Cfs*71 Frameshift 10/23 - 1
22-41735920-T-A c.917T>A p.V306E Missense 10/23 - 1
22-41735925-G-C c.922G>C p.G308R Missense 10/23 - 1
22-41735926-G-C c.923G>C p.G308A Missense 10/23 - 1
22-41735927-C-A c.924C>A p.G308= Synonymous 10/23 - 2
22-41735927-C-G c.924C>G p.G308= Synonymous 10/23 - 2
22-41735927-C-T c.924C>T p.G308= Synonymous 10/23 - 3
22-41735928-T-C c.925T>C p.S309P Missense 10/23 - 1
22-41735929-C-T c.926C>T p.S309F Missense 10/23 - 1
22-41735931-A-C c.928A>C p.I310L Missense 10/23 - 1
22-41735932-T-C c.929T>C p.I310T Missense 10/23 - 1
22-41735933-C-T c.930C>T p.I310= Synonymous 10/23 - 3
22-41735934-C-G c.931C>G p.P311A Missense 10/23 - 1
22-41735938-T-C c.935T>C p.V312A Missense 10/23 - 1
22-41735941-C-G c.938C>G p.S313C Missense 10/23 - 1
22-41735941-C-T c.938C>T p.S313F Missense 10/23 - 1
22-41735951-GC-G c.954del p.A319Pfs*170 Frameshift 10/23 - 2
22-41735951-G-GC c.954dup p.A319Rfs*58 Frameshift 10/23 - 2
22-41735957-C-A c.954C>A p.P318= Synonymous 10/23 - 1
22-41735957-C-G c.954C>G p.P318= Synonymous 10/23 - 1
22-41735957-C-T c.954C>T p.P318= Synonymous 10/23 - 1
22-41735958-G-A c.955G>A p.A319T Missense 10/23 - 1
22-41735959-CC-AG c.956_957delinsAG p.A319E Missense 10/23 - 1
22-41735961-T-G c.958T>G p.S320A Missense 10/23 - 2
22-41735966-C-T c.963C>T p.F321= Synonymous 10/23 - 2
22-41735975-C-T c.972C>T p.V324= Synonymous 10/23 - 1
22-41735986-C-T c.983C>T p.S328F Missense 10/23 - 1
22-41735992-A-G c.989A>G p.K330R Missense 10/23 - 2
22-41735999-C-A c.996C>A p.A332= Synonymous 10/23 - 1
22-41735999-C-G c.996C>G p.A332= Synonymous 10/23 - 1
22-41735999-C-T c.996C>T p.A332= Synonymous 10/23 - 1
22-41736000-GC-TG c.997_998delinsTG p.A333C Missense 10/23 - 1
22-41736004-C-G c.1001C>G p.S334C Missense 10/23 - 1
22-41736021-G-A c.1018G>A p.D340N Missense 10/23 - 1
22-41736021-G-T c.1018G>T p.D340Y Missense 10/23 - 1
22-41736024-C-T c.1021C>T p.P341S Missense 10/23 - 5
22-41736025-C-T c.1022C>T p.P341L Missense 10/23 - 2
22-41736026-C-A c.1023C>A p.P341= Synonymous 10/23 - 1
22-41736026-C-G c.1023C>G p.P341= Synonymous 10/23 - 1
22-41736026-C-T c.1023C>T p.P341= Synonymous 10/23 - 2
22-41736027-C-T c.1024C>T p.P342S Missense 10/23 - 1
22-41736028-C-T c.1025C>T p.P342L Missense 10/23 - 1
22-41736029-G-A c.1026G>A p.P342= Synonymous 10/23 - 2
22-41736029-G-C c.1026G>C p.P342= Synonymous 10/23 - 1
22-41736029-G-T c.1026G>T p.P342= Synonymous 10/23 - 1
22-41736035-C-T c.1032C>T p.P344= Synonymous 10/23 - 1
22-41736037-CG-AC c.1034_1035delinsAC p.T345N Missense 10/23 - 1
22-41736038-G-A c.1035G>A p.T345= Synonymous 10/23 - 1
22-41736042-G-A c.1039G>A p.D347N Missense 10/23 - 1
22-41736046-C-T c.1043C>T p.P348L Missense 10/23 - 2
22-41736047-C-A c.1044C>A p.P348= Synonymous 10/23 - 1
22-41736053-C-A c.1050C>A p.D350E Missense 10/23 - 1
22-41736053-C-G c.1050C>G p.D350E Missense 10/23 - 1
22-41736057-C-A c.1054C>A p.L352M Missense 10/23 - 1
22-41736060-C-T c.1057C>T p.P353S Missense 10/23 - 1
22-41736061-C-T c.1058C>T p.P353L Missense 10/23 - 3
22-41736067-C-T c.1064C>T p.S355L Missense 10/23 - 3
22-41736069-G-C c.1066G>C p.E356Q Missense 10/23 - 1
22-41736073-CC-TG c.1070_1071delinsTG p.T357M Missense 10/23 - 1
22-41736073-C-T c.1070C>T p.T357I Missense 10/23 - 1
22-41736075-C-A c.1072C>A p.R358= Synonymous 10/23 - 1
22-41736077-G-A c.1074G>A p.R358= Synonymous 10/23 - 1
22-41736077-G-C c.1074G>C p.R358= Synonymous 10/23 - 1
22-41736077-G-T c.1074G>T p.R358= Synonymous 10/23 - 1
22-41736076-G-C c.1073G>C p.R358P Missense 10/23 - 1
22-41736081-G-A c.1078G>A p.D360N Missense 10/23 - 1
22-41736090-G-A c.1087G>A p.D363N Missense 10/23 - 10
22-41736101-G-A c.1098G>A p.G366= Synonymous 10/23 - 2
22-41736108-C-T c.1105C>T p.R369* Nonsense 10/23 - 1
22-41736109-GA-AT c.1106_1107delinsAT p.R369H Missense 10/23 - 1
22-41736111-GGC-TGG c.1108_1110delinsTGG p.G370W Missense 10/23 - 1
22-41736112-G-A c.1109G>A p.G370D Missense 10/23 - 1
22-41736116-C-A c.1113C>A p.S371= Synonymous 10/23 - 3
22-41736116-C-G c.1113C>G p.S371= Synonymous 10/23 - 3
22-41736116-C-T c.1113C>T p.S371= Synonymous 10/23 - 3
22-41736125-A-G c.1122A>G p.K374= Synonymous 10/23 - 1
22-41736131-C-A c.1128C>A p.D376E Missense 10/23 - 1
22-41736131-C-G c.1128C>G p.D376E Missense 10/23 - 1
22-41736133-C-G c.1130C>G p.S377C Missense 10/23 - 1
22-41736138-A-C c.1135A>C p.M379L Missense 10/23 - 4
22-41736141-G-A c.1138G>A p.E380K Missense 10/23 - 1
22-41736267-A-G c.1138+126A>G - IntronicSNV - 10/22 5
22-41737045-C-T c.1139-47C>T - IntronicSNV - 10/22 5
22-41737096-G-C c.1143G>C p.E381D Missense 11/23 - 4
22-41737096-G-T c.1143G>T p.E381D Missense 11/23 - 3
22-41737099-C-A c.1146C>A p.T382= Synonymous 11/23 - 1
22-41737101-A-G c.1148A>G p.N383S Missense 11/23 - 1
22-41737115-CGT-TGG c.1162_1164delinsTGG p.R388W Missense 11/23 - 1
22-41737116-G-A c.1163G>A p.R388H Missense 11/23 - 1
22-41737125-G-A c.1172G>A p.S391N Missense 11/23 - 1
22-41737126-C-T c.1173C>T p.S391= Synonymous 11/23 - 1
22-41737127-G-A c.1174G>A p.G392S Missense 11/23 - 1
22-41737128-G-T c.1175G>T p.G392V Missense 11/23 - 1
22-41737130-G-A c.1177G>A p.A393T Missense 11/23 - 1
22-41737130-GC-TG c.1177_1178delinsTG p.A393C Missense 11/23 - 1
22-41737145-C-A c.1192C>A p.P398T Missense 11/23 - 3
22-41737145-C-T c.1192C>T p.P398S Missense 11/23 - 4
22-41737150-G-A c.1197G>A p.S399= Synonymous 11/23 - 2
22-41737150-G-C c.1197G>C p.S399= Synonymous 11/23 - 1
22-41737150-G-T c.1197G>T p.S399= Synonymous 11/23 - 1
22-41738539-C-T c.1204C>T p.P402S Missense 12/23 - 1
22-41738541-C-T c.1206C>T p.P402= Synonymous 12/23 - 1
22-41738549-C-T c.1214C>T p.P405L Missense 12/23 - 1
22-41738557-G-T c.1222G>T p.A408S Missense 12/23 - 1
22-41738560-T-C c.1225T>C p.L409= Synonymous 12/23 - 1
22-41738562-G-A c.1227G>A p.L409= Synonymous 12/23 - 1
22-41738568-C-G c.1233C>G p.I411M Missense 12/23 - 1
22-41738568-C-T c.1233C>T p.I411= Synonymous 12/23 - 2
22-41738570-A-G c.1235A>G p.K412R Missense 12/23 - 1
22-41738576-C-T c.1241C>T p.P414L Missense 12/23 - 1
22-41738577-C-A c.1242C>A p.P414= Synonymous 12/23 - 1
22-41738577-C-G c.1242C>G p.P414= Synonymous 12/23 - 1
22-41738577-C-T c.1242C>T p.P414= Synonymous 12/23 - 1
22-41738582-C-T c.1247C>T p.A416V Missense 12/23 - 2
22-41738587-A-T c.1252A>T p.T418S Missense 12/23 - 1
22-41738588-C-G c.1253C>G p.T418S Missense 12/23 - 1
22-41738592-C-T c.1257C>T p.H419= Synonymous 12/23 - 1
22-41738593-G-A c.1258G>A p.E420K Missense 12/23 - 1
22-41738625-C-A c.1290C>A p.P430= Synonymous 12/23 - 1
22-41738625-C-G c.1290C>G p.P430= Synonymous 12/23 - 1
22-41738625-C-T c.1290C>T p.P430= Synonymous 12/23 - 1
22-41738632-G-A c.1297G>A p.G433S Missense 12/23 - 1
22-41738632-G-C c.1297G>C p.G433R Missense 12/23 - 1
22-41738904-C-T c.1297+272C>T - IntronicSNV - 12/22 1
22-41739370-T-A c.1298-49T>A - IntronicSNV - 12/22 9
22-41739370-T-C c.1298-49T>C - IntronicSNV - 12/22 9
22-41739420-C-A c.1299C>A p.G433= Synonymous 13/23 - 1
22-41739420-C-G c.1299C>G p.G433= Synonymous 13/23 - 2
22-41739420-C-T c.1299C>T p.G433= Synonymous 13/23 - 3
22-41739421-C-T c.1300C>T p.P434S Missense 13/23 - 1
22-41739424-C-A c.1303C>A p.R435= Synonymous 13/23 - 1
22-41739425-G-T c.1304G>T p.R435L Missense 13/23 - 2
22-41739426-G-C c.1305G>C p.R435= Synonymous 13/23 - 1
22-41739432-C-A c.1311C>A p.G437= Synonymous 13/23 - 1
22-41739432-C-T c.1311C>T p.G437= Synonymous 13/23 - 2
22-41739433-G-A c.1312G>A p.D438N Missense 13/23 - 1
22-41739437-A-G c.1316A>G p.Y439C Missense 13/23 - 1
22-41739445-C-T c.1324C>T p.R442C Missense 13/23 - 4
22-41739446-G-A c.1325G>A p.R442H Missense 13/23 - 4
22-41739451-G-A c.1330G>A p.G444S Missense 13/23 - 2
22-41739457-G-A c.1336G>A p.E446K Missense 13/23 - 2
22-41739470-A-G c.1349A>G p.K450R Missense 13/23 - 1
22-41739473-G-A c.1352G>A p.R451Q Missense 13/23 - 2
22-41739473-G-T c.1352G>T p.R451L Missense 13/23 - 1
22-41739478-A-G c.1357A>G p.I453V Missense 13/23 - 1
22-41739482-T-G c.1361T>G p.L454R Missense 13/23 - 1
22-41739487-G-A c.1366G>A p.G456S Missense 13/23 - 1
22-41739491-G-A c.1370G>A p.R457Q Missense 13/23 - 3
22-41739495-C-T c.1374C>T p.L458= Synonymous 13/23 - 2
22-41739497-G-A c.1376G>A p.R459Q Missense 13/23 - 3
22-41739497-G-T c.1376G>T p.R459L Missense 13/23 - 1
22-41739500-G-A c.1379G>A p.S460N Missense 13/23 - 1
22-41739503-C-T c.1382C>T p.S461L Missense 13/23 - 5
22-41739504-G-A c.1383G>A p.S461= Synonymous 13/23 - 3
22-41739504-G-C c.1383G>C p.S461= Synonymous 13/23 - 2
22-41739504-G-T c.1383G>T p.S461= Synonymous 13/23 - 2
22-41739521-A-T c.1400A>T p.K467M Missense 13/23 - 2
22-41739523-C-T c.1402C>T p.R468W Missense 13/23 - 2
22-41739529-C-T c.1408C>T p.R470W Missense 13/23 - 1
22-41739530-G-A c.1409G>A p.R470Q Missense 13/23 - 3
22-41739530-G-T c.1409G>T p.R470L Missense 13/23 - 1
22-41739561-C-A c.1440C>A p.G480= Synonymous 13/23 - 1
22-41739561-C-G c.1440C>G p.G480= Synonymous 13/23 - 1
22-41739561-C-T c.1440C>T p.G480= Synonymous 13/23 - 1
22-41739567-C-T c.1446C>T p.Y482= Synonymous 13/23 - 1
22-41741042-G-C c.1460-965G>C - IntronicSNV - 13/22 1
22-41741544-G-A c.1460-463G>A - IntronicSNV - 13/22 1
22-41741824-C-T c.1460-183C>T - IntronicSNV - 13/22 1
22-41742009-A-G c.1462A>G p.M488V Missense 14/23 - 1
22-41742011-G-A c.1464G>A p.M488I Missense 14/23 - 1
22-41742011-G-C c.1464G>C p.M488I Missense 14/23 - 3
22-41742011-G-T c.1464G>T p.M488I Missense 14/23 - 1
22-41742021-C-T c.1474C>T p.Q492* Nonsense 14/23 - 1
22-41742023-G-A c.1476G>A p.Q492= Synonymous 14/23 - 1
22-41742026-C-T c.1479C>T p.D493= Synonymous 14/23 - 1
22-41742035-C-T c.1488C>T p.Y496= Synonymous 14/23 - 2
22-41742045-T-C c.1498T>C p.C500R Missense 14/23 - 1
22-41742049-C-CT c.1502_1503insT p.F502Lfs*32 Frameshift 14/23 - 1
22-41742062-T-A c.1515T>A p.H505Q Missense 14/23 - 1
22-41742062-T-G c.1515T>G p.H505Q Missense 14/23 - 1
22-41742066-G-A c.1519G>A p.E507K Missense 14/23 - 5
22-41742068-G-A c.1521G>A p.E507= Synonymous 14/23 - 2
22-41742074-C-T c.1527C>T p.I509= Synonymous 14/23 - 2
22-41742075-G-A c.1528G>A p.D510N Missense 14/23 - 1
22-41742078-G-A c.1531G>A p.V511M Missense 14/23 - 2
22-41742082-G-A c.1535G>A p.W512* Nonsense 14/23 - 3
22-41742083-G-A c.1536G>A p.W512* Nonsense 14/23 - 2
22-41742085-C-T c.1538C>T p.T513I Missense 14/23 - 2
22-41742086-C-A c.1539C>A p.T513= Synonymous 14/23 - 1
22-41742086-C-T c.1539C>T p.T513= Synonymous 14/23 - 5
22-41742090-G-T c.1543G>T p.E515* Nonsense 14/23 - 1
22-41742093-C-A c.1546C>A p.R516= Synonymous 14/23 - 2
22-41742093-CGG-TGT c.1546_1548delinsTGT p.R516C Missense 14/23 - 1
22-41742093-C-T c.1546C>T p.R516W Missense 14/23 - 1
22-41742095-G-A c.1548G>A p.R516= Synonymous 14/23 - 3
22-41742095-G-C c.1548G>C p.R516= Synonymous 14/23 - 2
22-41742095-G-T c.1548G>T p.R516= Synonymous 14/23 - 2
22-41742094-G-A c.1547G>A p.R516Q Missense 14/23 - 2
22-41742094-G-C c.1547G>C p.R516P Missense 14/23 - 1
22-41742094-G-T c.1547G>T p.R516L Missense 14/23 - 3
22-41742100-G-T c.1553G>T p.G518V Missense 14/23 - 1
22-41742101-C-A c.1554C>A p.G518= Synonymous 14/23 - 1
22-41742101-C-G c.1554C>G p.G518= Synonymous 14/23 - 1
22-41742101-C-T c.1554C>T p.G518= Synonymous 14/23 - 1
22-41742102-A-T c.1555A>T p.T519S Missense 14/23 - 1
22-41742108-A-C c.1561A>C p.N521H Missense 14/23 - 1
22-41742111-C-T c.1564C>T p.R522C Missense 14/23 - 1
22-41742114-G-A c.1567G>A p.D523N Missense 14/23 - 2
22-41742120-C-CCTG c.1573_1574insCTG p.L525delinsPV MultiAAMissense 14/23 - 1
22-41742130-C-T c.1583C>T p.P528L Missense 14/23 - 1
22-41742135-G-A c.1588G>A p.G530R Missense 14/23 - 1
22-41742135-G-C c.1588G>C p.G530R Missense 14/23 - 1
22-41742138-G-A c.1591G>A p.G531S Missense 14/23 - 1
22-41742133-TG-T c.1592del p.G531Vfs*13 Frameshift 14/23 - 2
22-41742139-G-A c.1592G>A p.G531D Missense 14/23 - 10
22-41742139-G-C c.1592G>C p.G531A Missense 14/23 - 1
22-41742139-G-T c.1592G>T p.G531V Missense 14/23 - 1
22-41742139-G-GT c.1593dup p.V532Cfs*2 Frameshift 14/23 - 1
22-41742141-GTT-ATG c.1594_1596delinsATG p.V532M Missense 14/23 - 1
22-41742145-A-G c.1598A>G p.K533R Missense 14/23 - 1
22-41742146-G-A c.1599G>A p.K533= Synonymous 14/23 - 1
22-41742147-CGC-TGG c.1600_1602delinsTGG p.R534W Missense 14/23 - 1
22-41742148-G-A c.1601G>A p.R534H Missense 14/23 - 1
22-41742148-GC-AA c.1601_1602delinsAA p.R534Q Missense 14/23 - 1
22-41742149-C-A c.1602C>A p.R534= Synonymous 14/23 - 1
22-41742149-C-G c.1602C>G p.R534= Synonymous 14/23 - 1
22-41742149-C-T c.1602C>T p.R534= Synonymous 14/23 - 3
22-41742154-G-A c.1607G>A p.S536N Missense 14/23 - 1
22-41742161-C-T c.1614C>T p.T538= Synonymous 14/23 - 3
22-41742165-G-A c.1618G>A p.A540T Missense 14/23 - 3
22-41742168-A-G c.1621A>G p.K541E Missense 14/23 - 1
22-41742174-C-A c.1627C>A p.L543M Missense 14/23 - 1
22-41742174-C-T c.1627C>T p.L543= Synonymous 14/23 - 1
22-41742176-G-A c.1629G>A p.L543= Synonymous 14/23 - 1
22-41742176-G-C c.1629G>C p.L543= Synonymous 14/23 - 1
22-41742176-G-T c.1629G>T p.L543= Synonymous 14/23 - 2
22-41742178-A-G c.1631A>G p.K544R Missense 14/23 - 1
22-41742178-A-T c.1631A>T p.K544M Missense 14/23 - 1
22-41742180-G-A c.1633G>A p.E545K Missense 14/23 - 3
22-41742190-G-A c.1643G>A p.G548D Missense 14/23 - 2
22-41742200-C-A c.1653C>A p.T551= Synonymous 14/23 - 1
22-41742200-C-G c.1653C>G p.T551= Synonymous 14/23 - 1
22-41742200-C-T c.1653C>T p.T551= Synonymous 14/23 - 1
22-41742206-C-T c.1659C>T p.L553= Synonymous 14/23 - 3
22-41742208-G-A c.1661G>A p.C554Y Missense 14/23 - 1
22-41742210-G-A c.1663G>A p.E555K Missense 14/23 - 1
22-41742212-G-A c.1665G>A p.E555= Synonymous 14/23 - 2
22-41742215-A-G c.1665+3A>G - IntronicSNV - 14/22 1
22-41742229-C-G c.1665+17C>G - IntronicSNV - 14/22 1
22-41742283-G-A c.1665+71G>A - IntronicSNV - 14/22 1
22-41742788-A-T c.1665+576A>T - IntronicSNV - 14/22 1
22-41744022-C-A c.1666-49C>A - IntronicSNV - 14/22 3
22-41744022-C-G c.1666-49C>G - IntronicSNV - 14/22 3
22-41744022-C-T c.1666-49C>T - IntronicSNV - 14/22 3
22-41744074-T-C c.1669T>C p.C557R Missense 15/23 - 1
22-41744076-C-A c.1671C>A p.C557* Nonsense 15/23 - 1
22-41744088-A-G c.1683A>G p.K561= Synonymous 15/23 - 1
22-41744092-C-T c.1687C>T p.R563W Missense 15/23 - 2
22-41744097-C-T c.1692C>T p.I564= Synonymous 15/23 - 1
22-41744119-T-C c.1714T>C p.S572P Missense 15/23 - 1
22-41744123-C-T c.1718C>T p.P573L Missense 15/23 - 2
22-41744124-G-A c.1719G>A p.P573= Synonymous 15/23 - 1
22-41744124-G-C c.1719G>C p.P573= Synonymous 15/23 - 1
22-41744124-G-T c.1719G>T p.P573= Synonymous 15/23 - 1
22-41744130-C-T c.1725C>T p.V575= Synonymous 15/23 - 1
22-41744135-C-T c.1730C>T p.S577F Missense 15/23 - 1
22-41744140-C-T c.1735C>T p.L579= Synonymous 15/23 - 4
22-41744160-C-G c.1755C>G p.F585L Missense 15/23 - 1
22-41744160-C-T c.1755C>T p.F585= Synonymous 15/23 - 1
22-41744161-TACA-T c.1764_1766del p.N588del SpliceDonorDeletion 15/23 - 1
22-41744216-A-G c.1766+45A>G - IntronicSNV - 15/22 1
22-41744258-C-A c.1766+87C>A - IntronicSNV - 15/22 1
22-41744334-A-G c.1766+163A>G - IntronicSNV - 15/22 1
22-41745025-C-T c.1767-99C>T - IntronicSNV - 15/22 2
22-41745118-C-T c.1767-6C>T - IntronicSNV - 15/22 1
22-41745139-C-T c.1782C>T p.I594= Synonymous 16/23 - 2
22-41745140-G-A c.1783G>A p.V595I Missense 16/23 - 1
22-41745143-C-G c.1786C>G p.R596G Missense 16/23 - 1
22-41745143-C-T c.1786C>T p.R596C Missense 16/23 - 1
22-41745147-C-G c.1790C>G p.S597C Missense 16/23 - 1
22-41745155-CTC-ATG c.1798_1800delinsATG p.L600M Missense 16/23 - 1
22-41745156-T-C c.1799T>C p.L600P Missense 16/23 - 1
22-41745157-C-A c.1800C>A p.L600= Synonymous 16/23 - 1
22-41745157-C-G c.1800C>G p.L600= Synonymous 16/23 - 1
22-41745157-C-T c.1800C>T p.L600= Synonymous 16/23 - 1
22-41745159-A-C c.1802A>C p.K601T Missense 16/23 - 1
22-41745174-G-A c.1817G>A p.R606H Missense 16/23 - 1
22-41745182-C-A c.1825C>A p.Q609K Missense 16/23 - 1
22-41745187-G-A c.1830G>A p.E610= Synonymous 16/23 - 1
22-41745197-T-C c.1840T>C p.F614L Missense 16/23 - 2
22-41745199-C-G c.1842C>G p.F614L Missense 16/23 - 2
22-41745199-C-A c.1842C>A p.F614L Missense 16/23 - 3
22-41745199-C-T c.1842C>T p.F614= Synonymous 16/23 - 5
22-41745200-G-T c.1843G>T p.D615Y Missense 16/23 - 4
22-41745203-G-A c.1846G>A p.V616M Missense 16/23 - 4
22-41745203-G-T c.1846G>T p.V616L Missense 16/23 - 1
22-41745210-G-A c.1853G>A p.R618H Missense 16/23 - 2
22-41745218-G-A c.1861G>A p.V621M Missense 16/23 - 3
22-41745218-GTG-ATC c.1861_1863delinsATC p.V621I Missense 16/23 - 1
22-41745221-C-T c.1864C>T p.R622C Missense 16/23 - 1
22-41745226-C-T c.1869C>T p.Y623= Synonymous 16/23 - 3
22-41745227-G-A c.1870G>A p.G624S Missense 16/23 - 1
22-41745239-G-A c.1882G>A p.E628K Missense 16/23 - 1
22-41745241-G-A c.1884G>A p.E628= Synonymous 16/23 - 1
22-41745257-G-A c.1900G>A p.A634T Missense 16/23 - 1
22-41745257-G-T c.1900G>T p.A634S Missense 16/23 - 1
22-41745258-C-T c.1901C>T p.A634V Missense 16/23 - 1
22-41745268-C-T c.1911C>T p.F637= Synonymous 16/23 - 2
22-41745271-C-T c.1914C>T p.I638= Synonymous 16/23 - 3
22-41745272-G-A c.1915G>A p.E639K Missense 16/23 - 2
22-41745278-A-C c.1921A>C p.K641Q Missense 16/23 - 1
22-41745279-A-G c.1922A>G p.K641R Missense 16/23 - 1
22-41745305-G-A c.1948G>A p.G650S Missense 16/23 - 1
22-41745305-G-T c.1948G>T p.G650C Missense 16/23 - 1
22-41745355-A-G c.1948+50A>G - IntronicSNV - 16/22 7
22-41745548-C-A c.1948+243C>A - IntronicSNV - 16/22 1
22-41745548-C-G c.1948+243C>G - IntronicSNV - 16/22 1
22-41745548-C-T c.1948+243C>T - IntronicSNV - 16/22 1
22-41746212-T-C c.1948+907T>C - IntronicSNV - 16/22 1
22-41747575-C-T c.1959C>T p.H653= Synonymous 17/23 - 3
22-41747576-G-A c.1960G>A p.E654K Missense 17/23 - 2
22-41747576-G-T c.1960G>T p.E654* Nonsense 17/23 - 1
22-41747588-C-A c.1972C>A p.Q658K Missense 17/23 - 1
22-41747607-G-T c.1991G>T p.W664L Missense 17/23 - 1
22-41747617-G-A c.2001G>A p.M667I Missense 17/23 - 3
22-41747617-G-C c.2001G>C p.M667I Missense 17/23 - 3
22-41747617-G-T c.2001G>T p.M667I Missense 17/23 - 4
22-41747629-G-T c.2013G>T p.A671= Synonymous 17/23 - 1
22-41747630-GGG-AGC c.2014_2016delinsAGC p.G672S Missense 17/23 - 1
22-41747630-G-T c.2014G>T p.G672W Missense 17/23 - 2
22-41747650-G-C c.2034G>C p.M678I Missense 17/23 - 1
22-41747717-G-A c.2034+67G>A - IntronicSNV - 17/22 7
22-41747815-ATT-A c.2034+168_2034+169del - IntronicDeletion - 17/22 1
22-41747814-CATTTT-C c.2034+190_2034+194del - IntronicDeletion - 17/22 2
22-41748846-C-T c.2034+1196C>T - IntronicSNV - 17/22 1
22-41749630-T-C c.2035-1843T>C - IntronicSNV - 17/22 1
22-41749796-C-T c.2035-1677C>T - IntronicSNV - 17/22 1
22-41750219-A-G c.2035-1254A>G - IntronicSNV - 17/22 1
22-41750622-T-C c.2035-851T>C - IntronicSNV - 17/22 1
22-41751437-G-A c.2035-36G>A - IntronicSNV - 17/22 3
22-41751477-C-T c.2039C>T p.A680V Missense 18/23 - 1
22-41751478-T-A c.2040T>A p.A680= Synonymous 18/23 - 1
22-41751478-T-C c.2040T>C p.A680= Synonymous 18/23 - 1
22-41751478-T-G c.2040T>G p.A680= Synonymous 18/23 - 1
22-41751479-C-A c.2041C>A p.P681T Missense 18/23 - 1
22-41751480-C-T c.2042C>T p.P681L Missense 18/23 - 1
22-41751488-C-T c.2050C>T p.H684Y Missense 18/23 - 1
22-41751493-G-A c.2055G>A p.G685= Synonymous 18/23 - 1
22-41751494-C-A c.2056C>A p.P686T Missense 18/23 - 2
22-41751498-G-T c.2060G>T p.S687I Missense 18/23 - 1
22-41751501-C-T c.2063C>T p.T688I Missense 18/23 - 1
22-41751502-C-G c.2064C>G p.T688= Synonymous 18/23 - 1
22-41751506-G-C c.2068G>C p.D690H Missense 18/23 - 1
22-41751509-C-A c.2071C>A p.L691M Missense 18/23 - 1
22-41751520-G-C c.2082G>C p.K694N Missense 18/23 - 1
22-41751520-G-T c.2082G>T p.K694N Missense 18/23 - 1
22-41751522-T-C c.2084T>C p.F695S Missense 18/23 - 3
22-41751540-G-A c.2102G>A p.W701* Nonsense 18/23 - 1
22-41751541-G-A c.2103G>A p.W701* Nonsense 18/23 - 1
22-41751541-G-C c.2103G>C p.W701C Missense 18/23 - 1
22-41751541-G-T c.2103G>T p.W701C Missense 18/23 - 1
22-41751543-G-T c.2105G>T p.R702I Missense 18/23 - 1
22-41751542-A-C c.2104A>C p.R702= Synonymous 18/23 - 1
22-41751544-A-G c.2106A>G p.R702= Synonymous 18/23 - 1
22-41751551-C-A c.2113C>A p.Q705K Missense 18/23 - 1
22-41751551-C-T c.2113C>T p.Q705* Nonsense 18/23 - 1
22-41751557-G-A c.2119G>A p.V707M Missense 18/23 - 1
22-41751562-G-C c.2124G>C p.E708D Missense 18/23 - 1
22-41751562-G-T c.2124G>T p.E708D Missense 18/23 - 2
22-41751571-G-A c.2133G>A p.K711= Synonymous 18/23 - 1
22-41751581-T-C c.2143T>C p.Y715H Missense 18/23 - 1
22-41751593-A-G c.2155A>G p.K719E Missense 18/23 - 1
22-41751594-A-G c.2156A>G p.K719R Missense 18/23 - 1
22-41751599-C-T c.2161C>T p.R721W Missense 18/23 - 2
22-41751600-GG-AT c.2162_2163delinsAT p.R721H Missense 18/23 - 1
22-41751622-G-A c.2168+16G>A - IntronicSNV - 18/22 1
22-41751622-G-C c.2168+16G>C - IntronicSNV - 18/22 1
22-41751750-C-G c.2169-11C>G - IntronicSNV - 18/22 1
22-41751750-C-T c.2169-11C>T - IntronicSNV - 18/22 1
22-41751764-G-C c.2172G>C p.W724C Missense 19/23 - 1
22-41751764-G-T c.2172G>T p.W724C Missense 19/23 - 1
22-41751769-A-G c.2177A>G p.K726R Missense 19/23 - 2
22-41751770-G-C c.2178G>C p.K726N Missense 19/23 - 2
22-41751770-G-T c.2178G>T p.K726N Missense 19/23 - 2
22-41751774-C-A c.2182C>A p.R728= Synonymous 19/23 - 3
22-41751776-G-C c.2184G>C p.R728= Synonymous 19/23 - 2
22-41751776-G-T c.2184G>T p.R728= Synonymous 19/23 - 2
22-41751776-G-A c.2184G>A p.R728= Synonymous 19/23 - 4
22-41751777-C-T c.2185C>T p.R729W Missense 19/23 - 3
22-41751781-T-G c.2189T>G p.V730G Missense 19/23 - 3
22-41751783-C-T c.2191C>T p.L731F Missense 19/23 - 3
22-41751782-CCTT-C c.2193_2195del p.L732del InFrameDeletion 19/23 - 1
22-41751786-CTG-ATC c.2194_2196delinsATC p.L732I Missense 19/23 - 1
22-41751786-TCTG-T c.2194_2196del p.L732del InFrameDeletion 19/23 - 1
22-41751801-G-A c.2209G>A p.A737T Missense 19/23 - 2
22-41751805-A-G c.2213A>G p.K738R Missense 19/23 - 1
22-41751811-A-G c.2219A>G p.K740R Missense 19/23 - 1
22-41751816-G-A c.2224G>A p.V742M Missense 19/23 - 1
22-41751818-G-A c.2226G>A p.V742= Synonymous 19/23 - 1
22-41751828-C-T c.2236C>T p.P746S Missense 19/23 - 1
22-41751829-C-A c.2237C>A p.P746Q Missense 19/23 - 3
22-41751831-C-A c.2239C>A p.L747M Missense 19/23 - 1
22-41751834-C-T c.2242C>T p.P748S Missense 19/23 - 2
22-41751843-C-T c.2251C>T p.R751C Missense 19/23 - 2
22-41751844-G-A c.2252G>A p.R751H Missense 19/23 - 1
22-41751845-T-A c.2253T>A p.R751= Synonymous 19/23 - 1
22-41751847-A-G c.2255A>G p.N752S Missense 19/23 - 1
22-41751851-C-T c.2259C>T p.F753= Synonymous 19/23 - 2
22-41751857-G-C c.2265G>C p.Q755H Missense 19/23 - 1
22-41751857-G-T c.2265G>T p.Q755H Missense 19/23 - 1
22-41751858-C-A c.2266C>A p.Q756K Missense 19/23 - 1
22-41751865-A-T c.2273A>T p.D758V Missense 19/23 - 1
22-41751959-T-G c.2276T>G p.L759R Missense 20/23 - 1
22-41751967-C-T c.2284C>T p.H762Y Missense 20/23 - 1
22-41751977-A-C c.2294A>C p.N765T Missense 20/23 - 1
22-41751977-A-G c.2294A>G p.N765S Missense 20/23 - 1
22-41751978-C-T c.2295C>T p.N765= Synonymous 20/23 - 1
22-41751979-G-A c.2296G>A p.G766S Missense 20/23 - 1
22-41751980-G-T c.2297G>T p.G766V Missense 20/23 - 1
22-41751987-G-A c.2304G>A p.K768= Synonymous 20/23 - 1
22-41751993-A-G c.2310A>G p.Q770= Synonymous 20/23 - 1
22-41751994-T-C c.2311T>C p.Y771H Missense 20/23 - 3
22-41752001-G-A c.2318G>A p.G773E Missense 20/23 - 1
22-41752005-C-A c.2322C>A p.N774K Missense 20/23 - 2
22-41752005-C-G c.2322C>G p.N774K Missense 20/23 - 2
22-41752015-G-A c.2332G>A p.A778T Missense 20/23 - 1
22-41752025-C-T c.2342C>T p.P781L Missense 20/23 - 1
22-41752026-G-A c.2343G>A p.P781= Synonymous 20/23 - 1
22-41752026-G-T c.2343G>T p.P781= Synonymous 20/23 - 1
22-41752032-G-C c.2349G>C p.E783D Missense 20/23 - 1
22-41752034-G-T c.2351G>T p.R784M Missense 20/23 - 1
22-41752048-T-C c.2365T>C p.F789L Missense 20/23 - 1
22-41752050-C-A c.2367C>A p.F789L Missense 20/23 - 1
22-41752050-C-G c.2367C>G p.F789L Missense 20/23 - 1
22-41752056-G-A c.2373G>A p.K791= Synonymous 20/23 - 1
22-41752065-G-C c.2382G>C p.K794N Missense 20/23 - 1
22-41752065-G-T c.2382G>T p.K794N Missense 20/23 - 1
22-41752352-G-A c.2389G>A p.D797N Missense 21/23 - 2
22-41752354-C-T c.2391C>T p.D797= Synonymous 21/23 - 1
22-41752363-G-C c.2400G>C p.Q800H Missense 21/23 - 1
22-41752363-G-T c.2400G>T p.Q800H Missense 21/23 - 1
22-41752364-A-G c.2401A>G p.T801A Missense 21/23 - 4
22-41752372-C-A c.2409C>A p.D803E Missense 21/23 - 1
22-41752372-C-T c.2409C>T p.D803= Synonymous 21/23 - 1
22-41752373-A-T c.2410A>T p.M804L Missense 21/23 - 1
22-41752377-G-C c.2414G>C p.W805S Missense 21/23 - 6
22-41752384-A-G c.2421A>G p.K807= Synonymous 21/23 - 1
22-41752381-G-GA c.2424dup p.H809Tfs*68 Frameshift 21/23 - 1
22-41752388-C-T c.2425C>T p.H809Y Missense 21/23 - 1
22-41752393-C-T c.2430C>T p.N810= Synonymous 21/23 - 2
22-41752394-C-G c.2431C>G p.P811A Missense 21/23 - 1
22-41752398-G-A c.2435G>A p.G812E Missense 21/23 - 1
22-41752399-A-G c.2436A>G p.G812= Synonymous 21/23 - 1
22-41752403-CC-TT c.2440_2441delinsTT p.P814F Missense 21/23 - 1
22-41752404-C-G c.2441C>G p.P814R Missense 21/23 - 2
22-41752405-T-C c.2442T>C p.P814= Synonymous 21/23 - 1
22-41752405-T-G c.2442T>G p.P814= Synonymous 21/23 - 1
22-41752409-G-A c.2446G>A p.E816K Missense 21/23 - 2
22-41752421-A-G c.2458A>G p.I820V Missense 21/23 - 1
22-41752423-C-A c.2460C>A p.I820= Synonymous 21/23 - 1
22-41752423-C-T c.2460C>T p.I820= Synonymous 21/23 - 2
22-41752425-G-C c.2462G>C p.S821T Missense 21/23 - 1
22-41752425-G-T c.2462G>T p.S821I Missense 21/23 - 1
22-41752426-T-C c.2463T>C p.S821= Synonymous 21/23 - 1
22-41752436-G-A c.2473G>A p.G825R Missense 21/23 - 1
22-41752437-G-T c.2474G>T p.G825V Missense 21/23 - 2
22-41752438-G-A c.2475G>A p.G825= Synonymous 21/23 - 1
22-41752441-G-A c.2478G>A p.E826= Synonymous 21/23 - 4
22-41752449-T-A c.2486T>A p.I829N Missense 21/23 - 3
22-41752451-C-T c.2488C>T p.Q830* Nonsense 21/23 - 2
22-41752463-G-A c.2500G>A p.D834N Missense 21/23 - 6
22-41752468-C-T c.2505C>T p.Y835= Synonymous 21/23 - 1
22-41752471-G-A c.2508G>A p.A836= Synonymous 21/23 - 1
22-41752471-G-C c.2508G>C p.A836= Synonymous 21/23 - 1
22-41752471-G-T c.2508G>T p.A836= Synonymous 21/23 - 1
22-41752477-C-T c.2514C>T p.I838= Synonymous 21/23 - 1
22-41752478-A-G c.2515A>G p.M839V Missense 21/23 - 1
22-41752548-G-T c.2517+68G>T - IntronicSNV - 21/22 1
22-41752655-T-C c.2524T>C p.Y842H Missense 22/23 - 1
22-41752660-C-T c.2529C>T p.H843= Synonymous 22/23 - 1
22-41752663-C-A c.2532C>A p.C844* Nonsense 22/23 - 1
22-41752665-G-C c.2534G>C p.W845S Missense 22/23 - 2
22-41752673-G-A c.2542G>A p.G848S Missense 22/23 - 3
22-41752692-A-G c.2561A>G p.K854R Missense 22/23 - 1
22-41752693-G-A c.2562G>A p.K854= Synonymous 22/23 - 1
22-41752696-G-A c.2565G>A p.K855= Synonymous 22/23 - 1
22-41752702-G-C c.2571G>C p.W857C Missense 22/23 - 1
22-41752702-G-T c.2571G>T p.W857C Missense 22/23 - 1
22-41752703-C-T c.2572C>T p.Q858* Nonsense 22/23 - 1
22-41752707-A-G c.2576A>G p.Q859R Missense 22/23 - 1
22-41752710-A-T c.2579A>T p.H860L Missense 22/23 - 1
22-41752714-C-A c.2583C>A p.I861= Synonymous 22/23 - 1
22-41752714-C-T c.2583C>T p.I861= Synonymous 22/23 - 1
22-41752715-C-T c.2584C>T p.Q862* Nonsense 22/23 - 1
22-41752719-C-T c.2588C>T p.S863F Missense 22/23 - 5
22-41752720-C-T c.2589C>T p.S863= Synonymous 22/23 - 1
22-41752728-A-G c.2597A>G p.H866R Missense 22/23 - 1
22-41752740-T-C c.2609T>C p.V870A Missense 22/23 - 1
22-41752744-C-A c.2613C>A p.F871L Missense 22/23 - 1
22-41752747-G-A c.2616G>A p.T872= Synonymous 22/23 - 11
22-41752747-G-C c.2616G>C p.T872= Synonymous 22/23 - 2
22-41752747-G-T c.2616G>T p.T872= Synonymous 22/23 - 2
22-41752750-C-T c.2619C>T p.S873= Synonymous 22/23 - 3
22-41752751-G-T c.2620G>T p.D874Y Missense 22/23 - 1
22-41752766-G-A c.2635G>A p.G879S Missense 22/23 - 3
22-41752767-G-T c.2636G>T p.G879V Missense 22/23 - 1
22-41752772-G-A c.2641G>A p.A881T Missense 22/23 - 1
22-41752779-G-A c.2648G>A p.R883H Missense 22/23 - 1
22-41752779-G-T c.2648G>T p.R883L Missense 22/23 - 2
22-41752781-T-C c.2650T>C p.F884L Missense 22/23 - 1
22-41752783-C-A c.2652C>A p.F884L Missense 22/23 - 1
22-41752783-C-G c.2652C>G p.F884L Missense 22/23 - 1
22-41752784-C-T c.2653C>T p.P885S Missense 22/23 - 3
22-41752786-C-T c.2655C>T p.P885= Synonymous 22/23 - 2
22-41752790-G-T c.2659G>T p.G887C Missense 22/23 - 3
22-41752792-C-T c.2661C>T p.G887= Synonymous 22/23 - 2
22-41752798-C-A c.2667C>A p.F889L Missense 22/23 - 1
22-41752799-C-A c.2668C>A p.R890= Synonymous 22/23 - 1
22-41752799-C-T c.2668C>T p.R890W Missense 22/23 - 1
22-41752801-G-A c.2670G>A p.R890= Synonymous 22/23 - 1
22-41752801-G-C c.2670G>C p.R890= Synonymous 22/23 - 1
22-41752801-G-T c.2670G>T p.R890= Synonymous 22/23 - 1
22-41752804-C-A c.2673C>A p.L891= Synonymous 22/23 - 1
22-41752804-C-G c.2673C>G p.L891= Synonymous 22/23 - 1
22-41752804-C-T c.2673C>T p.L891= Synonymous 22/23 - 1
22-41752807-C-A c.2676C>A p.C892* Nonsense 22/23 - 1
22-41752808-G-A c.2677G>A p.D893N Missense 22/23 - 1
22-41752812-G-T c.2681G>T p.R894M Missense 22/23 - 1
22-41752944-A-G c.2681+132A>G - IntronicSNV - 22/22 4
22-41752978-G-A c.2681+166G>A - IntronicSNV - 22/22 1
22-41753059-G-A c.2682-122G>A - IntronicSNV - 22/22 3
22-41753181-G-T c.2682G>T p.R894S Missense 23/23 - 1
22-41753184-C-T c.2685C>T p.L895= Synonymous 23/23 - 1
22-41753189-A-G c.2690A>G p.K897R Missense 23/23 - 4
22-41753191-G-A c.2692G>A p.G898S Missense 23/23 - 3
22-41753192-G-A c.2693G>A p.G898D Missense 23/23 - 1
22-41753206-G-A c.2707G>A p.D903N Missense 23/23 - 1
22-41753216-A-C c.2717A>C p.K906T Missense 23/23 - 1
22-41753221-C-T c.2722C>T p.R908C Missense 23/23 - 2
22-41753225-G-A c.2726G>A p.C909Y Missense 23/23 - 3
22-41753226-C-T c.2727C>T p.C909= Synonymous 23/23 - 1
22-41753227-G-A c.2728G>A p.A910T Missense 23/23 - 1
22-41753234-G-C c.2735G>C p.G912A Missense 23/23 - 1
22-41753240-A-T c.2741A>T p.E914V Missense 23/23 - 1
22-41753241-G-C c.2742G>C p.E914D Missense 23/23 - 1
22-41753257-C-T c.2758C>T p.L920= Synonymous 23/23 - 1
22-41753263-C-T c.2764C>T p.R922W Missense 23/23 - 4
22-41753264-G-A c.2765G>A p.R922Q Missense 23/23 - 1
22-41753267-G-A c.2768G>A p.R923H Missense 23/23 - 1
22-41753271-G-A c.2772G>A p.E924= Synonymous 23/23 - 3
22-41753272-G-C c.2773G>C p.V925L Missense 23/23 - 1
22-41753272-G-T c.2773G>T p.V925L Missense 23/23 - 2
22-41753273-T-G c.2774T>G p.V925G Missense 23/23 - 1
22-41753277-G-C c.2778G>C p.L926= Synonymous 23/23 - 1
22-41753281-C-A c.2782C>A p.Q928K Missense 23/23 - 1
22-41753283-G-C c.2784G>C p.Q928H Missense 23/23 - 2
22-41753283-G-T c.2784G>T p.Q928H Missense 23/23 - 1
22-41753285-A-G c.2786A>G p.K929R Missense 23/23 - 1
22-41753291-C-T c.2792C>T p.A931V Missense 23/23 - 1
22-41753294-A-T c.2795A>T p.K932M Missense 23/23 - 3
22-41753299-C-T c.2800C>T p.R934C Missense 23/23 - 1
22-41753300-G-A c.2801G>A p.R934H Missense 23/23 - 1
22-41753305-G-C c.2806G>C p.D936H Missense 23/23 - 1
22-41753319-C-A c.2820C>A p.C940* Nonsense 23/23 - 1
22-41753319-C-T c.2820C>T p.C940= Synonymous 23/23 - 3
22-41753324-G-A c.2825G>A p.R942Q Missense 23/23 - 1
22-41753328-C-T c.2829C>T p.D943= Synonymous 23/23 - 1
22-41753329-G-A c.2830G>A p.D944N Missense 23/23 - 1
22-41753331-C-T c.2832C>T p.D944= Synonymous 23/23 - 1
22-41753345-A-T c.2846A>T p.Y949F Missense 23/23 - 1
22-41753352-C-T c.2853C>T p.F951= Synonymous 23/23 - 2
22-41753353-C-T c.2854C>T p.L952= Synonymous 23/23 - 1
22-41753361-A-G c.2862A>G p.Q954= Synonymous 23/23 - 1
22-41753363-A-T c.2864A>T p.E955V Missense 23/23 - 1
22-41753365-G-A c.2866G>A p.D956N Missense 23/23 - 6
22-41753368-G-A c.2869G>A p.G957R Missense 23/23 - 1
22-41753368-G-C c.2869G>C p.G957R Missense 23/23 - 1
22-41753371-G-A c.2872G>A p.D958N Missense 23/23 - 1
22-41753371-G-T c.2872G>T p.D958Y Missense 23/23 - 3
22-41753373-C-A c.2874C>A p.D958E Missense 23/23 - 2
22-41753373-C-G c.2874C>G p.D958E Missense 23/23 - 4
22-41753379-C-T c.2880C>T p.A960= Synonymous 23/23 - 1
22-41753382-T-C c.2883T>C p.G961= Synonymous 23/23 - 3
22-41753386-A-G c.2887A>G p.T963A Missense 23/23 - 1
22-41753389-C-T c.2890C>T p.P964S Missense 23/23 - 1
22-41753395-GC-G c.2900del p.P967Lfs*33 Frameshift 23/23 - 1
22-41753400-T-C c.2901T>C p.P967= Synonymous 23/23 - 1
22-41753400-T-TCTG c.2901_2902insCTG p.P967_A968insL InFrameInsertion 23/23 - 1
22-41753408-C-T c.2909C>T p.A970V Missense 23/23 - 1
22-41753398-CCTG-C c.2910_2912del p.A971del InFrameDeletion 23/23 - 1
22-41753409-T-C c.2910T>C p.A970= Synonymous 23/23 - 2
22-41753411-C-T c.2912C>T p.A971V Missense 23/23 - 1
22-41753416-G-A c.2917G>A p.A973T Missense 23/23 - 1
22-41753416-G-T c.2917G>T p.A973S Missense 23/23 - 1
22-41753417-C-T c.2918C>T p.A973V Missense 23/23 - 1
22-41753418-C-T c.2919C>T p.A973= Synonymous 23/23 - 3
22-41753422-AC-GG c.2923_2924delinsGG p.T975G Missense 23/23 - 1
22-41753426-G-T c.2927G>T p.G976V Missense 23/23 - 4
22-41753427-G-A c.2928G>A p.G976= Synonymous 23/23 - 1
22-41753523-G-A c.*90G>A - 3-UTRSNV 23/23 - 1
22-41753525-T-G c.*92T>G - 3-UTRSNV 23/23 - 2
22-41753569-T-C c.*136T>C - 3-UTRSNV 23/23 - 8
22-41753603-G-A c.*170G>A - 3-UTRSNV 23/23 - 6
22-41753603-G-C c.*170G>C - 3-UTRSNV 23/23 - 6
22-41753894-C-T c.*461C>T - 3-UTRSNV 23/23 - 2
22-41755105-A-G c.*1672A>G - 3-UTRSNV 23/23 - 5
22-41755105-A-T c.*1672A>T - 3-UTRSNV 23/23 - 5
22-41755822-G-T c.*2389G>T - 3-UTRSNV 23/23 - 1
22-41755857-G-T c.*2424G>T - 3-UTRSNV 23/23 - 2