ACR

ACR acrosin

Annotation transcript: NM_001097.3

643 unique variant annotations were identified in 476 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
22-51176664-A-G c.1A>G p.M1? Missense 1/5 - 2
22-51176669-T-A c.6T>A p.V2= Synonymous 1/5 - 5
22-51176669-T-C c.6T>C p.V2= Synonymous 1/5 - 5
22-51176669-T-G c.6T>G p.V2= Synonymous 1/5 - 5
22-51176672-G-A c.9G>A p.E3= Synonymous 1/5 - 1
22-51176676-C-A c.13C>A p.L5I Missense 1/5 - 1
22-51176676-C-T c.13C>T p.L5= Synonymous 1/5 - 1
22-51176676-CTA-ATG c.13_15delinsATG p.L5M Missense 1/5 - 1
22-51176683-C-T c.20C>T p.T7I Missense 1/5 - 1
22-51176684-T-C c.21T>C p.T7= Synonymous 1/5 - 1
22-51176689-T-C c.26T>C p.I9T Missense 1/5 - 1
22-51176691-CTG-ATC c.28_30delinsATC p.L10I Missense 1/5 - 1
22-51176695-T-C c.32T>C p.L11P Missense 1/5 - 1
22-51176697-G-A c.34G>A p.V12I Missense 1/5 - 1
22-51176697-G-C c.34G>C p.V12L Missense 1/5 - 1
22-51176698-T-C c.35T>C p.V12A Missense 1/5 - 1
22-51176699-C-A c.36C>A p.V12= Synonymous 1/5 - 3
22-51176699-C-G c.36C>G p.V12= Synonymous 1/5 - 3
22-51176699-C-T c.36C>T p.V12= Synonymous 1/5 - 3
22-51176700-TT-CC c.37_38delinsCC p.L13P Missense 1/5 - 1
22-51176700-TT-GC c.37_38delinsGC p.L13A Missense 1/5 - 5
22-51176703-G-A c.40G>A p.A14T Missense 1/5 - 1
22-51176703-GCA-TTT c.40_42delinsTTT p.A14F Missense 1/5 - 1
22-51176703-G-T c.40G>T p.A14S Missense 1/5 - 1
22-51176704-CA-AC c.41_42delinsAC p.A14D Missense 1/5 - 1
22-51176705-A-C c.42A>C p.A14= Synonymous 1/5 - 1
22-51176705-A-G c.42A>G p.A14= Synonymous 1/5 - 1
22-51176705-A-T c.42A>T p.A14= Synonymous 1/5 - 1
22-51176706-GTG-ATC c.43_45delinsATC p.V15I Missense 1/5 - 9
22-51176706-GTG-TGT c.43_45delinsTGT p.V15C Missense 1/5 - 1
22-51176707-T-C c.44T>C p.V15A Missense 1/5 - 1
22-51176707-T-G c.44T>G p.V15G Missense 1/5 - 1
22-51176709-T-A c.46T>A p.S16T Missense 1/5 - 1
22-51176709-TC-CT c.46_47delinsCT p.S16L Missense 1/5 - 2
22-51176710-C-T c.47C>T p.S16F Missense 1/5 - 1
22-51176712-G-A c.49G>A p.V17M Missense 1/5 - 2
22-51176712-GTG-ATC c.49_51delinsATC p.V17I Missense 1/5 - 9
22-51176712-GT-TG c.49_50delinsTG p.V17W Missense 1/5 - 1
22-51176713-T-C c.50T>C p.V17A Missense 1/5 - 1
22-51176715-G-A c.52G>A p.V18I Missense 1/5 - 2
22-51176717-T-A c.54T>A p.V18= Synonymous 1/5 - 1
22-51176717-T-C c.54T>C p.V18= Synonymous 1/5 - 1
22-51176717-T-G c.54T>G p.V18= Synonymous 1/5 - 1
22-51176718-G-C c.55G>C p.A19P Missense 1/5 - 2
22-51176718-GCT-AAG c.55_57delinsAAG p.A19K Missense 1/5 - 1
22-51176718-GCT-TAA c.55_57delinsTAA p.A19* Nonsense 1/5 - 1
22-51176719-CT-AG c.56_57inv p.A19E Missense 1/5 - 1
22-51176720-T-A c.57T>A p.A19= Synonymous 1/5 - 1
22-51176720-T-C c.57T>C p.A19= Synonymous 1/5 - 1
22-51176720-T-G c.57T>G p.A19= Synonymous 1/5 - 1
22-51176721-A-T c.58A>T p.K20* Nonsense 1/5 - 1
22-51176724-G-A c.61G>A p.D21N Missense 1/5 - 1
22-51176724-G-C c.61G>C p.D21H Missense 1/5 - 1
22-51176725-A-C c.62A>C p.D21A Missense 1/5 - 1
22-51176725-A-AT c.63dup p.N22* Nonsense 1/5 - 1
22-51176729-C-A c.66C>A p.N22K Missense 1/5 - 1
22-51176729-C-T c.66C>T p.N22= Synonymous 1/5 - 6
22-51176730-G-A c.67G>A p.A23T Missense 1/5 - 2
22-51176730-GC-TG c.67_68delinsTG p.A23C Missense 1/5 - 1
22-51176731-C-T c.68C>T p.A23V Missense 1/5 - 3
22-51176732-C-A c.69C>A p.A23= Synonymous 1/5 - 1
22-51176732-C-G c.69C>G p.A23= Synonymous 1/5 - 1
22-51176732-C-T c.69C>T p.A23= Synonymous 1/5 - 1
22-51176733-AC-GT c.70_71inv p.T24V Missense 1/5 - 1
22-51176734-C-T c.71C>T p.T24M Missense 1/5 - 6
22-51176735-G-A c.72G>A p.T24= Synonymous 1/5 - 4
22-51176735-G-C c.72G>C p.T24= Synonymous 1/5 - 2
22-51176735-G-T c.72G>T p.T24= Synonymous 1/5 - 2
22-51176737-G-T c.74G>T p.C25F Missense 1/5 - 1
22-51176738-T-A c.75T>A p.C25* Nonsense 1/5 - 2
22-51176738-T-C c.75T>C p.C25= Synonymous 1/5 - 1
22-51176741-G-C c.77+1G>C - IntronicSNV - 1/4 1
22-51177703-C-A c.82C>A p.P28T Missense 2/5 - 1
22-51177703-C-G c.82C>G p.P28A Missense 2/5 - 1
22-51177704-C-T c.83C>T p.P28L Missense 2/5 - 2
22-51177706-T-C c.85T>C p.C29R Missense 2/5 - 1
22-51177706-TG-AA c.85_86delinsAA p.C29N Missense 2/5 - 1
22-51177706-TG-GC c.85_86delinsGC p.C29A Missense 2/5 - 1
22-51177707-G-A c.86G>A p.C29Y Missense 2/5 - 1
22-51177710-G-A c.89G>A p.G30E Missense 2/5 - 2
22-51177712-TT-GA c.91_92delinsGA p.L31E Missense 2/5 - 2
22-51177713-T-C c.92T>C p.L31S Missense 2/5 - 1
22-51177714-A-G c.93A>G p.L31= Synonymous 2/5 - 1
22-51177715-CG-TA c.94_95delinsTA p.R32* Nonsense 2/5 - 1
22-51177719-TC-AA c.98_99delinsAA p.F33* Nonsense 2/5 - 1
22-51177721-AG-GC c.100_101delinsGC p.R34A Missense 2/5 - 1
22-51177728-A-G c.107A>G p.N36S Missense 2/5 - 1
22-51177730-C-T c.109C>T p.P37S Missense 2/5 - 1
22-51177731-C-A c.110C>A p.P37Q Missense 2/5 - 1
22-51177731-C-T c.110C>T p.P37L Missense 2/5 - 1
22-51177733-C-A c.112C>A p.Q38K Missense 2/5 - 1
22-51177734-A-G c.113A>G p.Q38R Missense 2/5 - 1
22-51177740-G-C c.119G>C p.G40A Missense 2/5 - 1
22-51177745-C-T c.124C>T p.R42C Missense 2/5 - 1
22-51177748-A-G c.127A>G p.I43V Missense 2/5 - 1
22-51177750-C-G c.129C>G p.I43M Missense 2/5 - 1
22-51177750-C-T c.129C>T p.I43= Synonymous 2/5 - 4
22-51177751-G-A c.130G>A p.V44I Missense 2/5 - 1
22-51177753-C-T c.132C>T p.V44= Synonymous 2/5 - 1
22-51177754-G-A c.133G>A p.G45S Missense 2/5 - 1
22-51177754-GGC-TGA c.133_135delinsTGA p.G45* Nonsense 2/5 - 1
22-51177755-G-T c.134G>T p.G45V Missense 2/5 - 1
22-51177757-GG-AC c.136_137delinsAC p.G46T Missense 2/5 - 1
22-51177763-GC-TG c.142_143delinsTG p.A48C Missense 2/5 - 1
22-51177763-GCT-TAA c.142_144delinsTAA p.A48* Nonsense 2/5 - 1
22-51177763-G-T c.142G>T p.A48S Missense 2/5 - 1
22-51177764-CT-AG c.143_144inv p.A48E Missense 2/5 - 1
22-51177765-T-A c.144T>A p.A48= Synonymous 2/5 - 1
22-51177765-T-C c.144T>C p.A48= Synonymous 2/5 - 1
22-51177765-T-G c.144T>G p.A48= Synonymous 2/5 - 1
22-51177766-GCA-TTT c.145_147delinsTTT p.A49F Missense 2/5 - 1
22-51177767-CA-AC c.146_147delinsAC p.A49D Missense 2/5 - 1
22-51177767-C-G c.146C>G p.A49G Missense 2/5 - 2
22-51177773-A-G c.152A>G p.H51R Missense 2/5 - 1
22-51177774-T-A c.153T>A p.H51Q Missense 2/5 - 1
22-51177774-T-C c.153T>C p.H51= Synonymous 2/5 - 1
22-51177776-G-A c.155G>A p.G52E Missense 2/5 - 1
22-51177776-G-C c.155G>C p.G52A Missense 2/5 - 1
22-51177778-G-A c.157G>A p.A53T Missense 2/5 - 3
22-51177780-C-G c.159C>G p.A53= Synonymous 2/5 - 1
22-51177782-G-A c.161G>A p.W54* Nonsense 2/5 - 1
22-51177783-G-A c.162G>A p.W54* Nonsense 2/5 - 1
22-51177783-G-T c.162G>T p.W54C Missense 2/5 - 1
22-51177784-CC-TG c.163_164delinsTG p.P55C Missense 2/5 - 1
22-51177789-G-A c.168G>A p.W56* Nonsense 2/5 - 1
22-51177792-G-A c.171G>A p.M57I Missense 2/5 - 1
22-51177795-C-T c.174C>T p.V58= Synonymous 2/5 - 1
22-51177796-A-G c.175A>G p.S59G Missense 2/5 - 2
22-51177797-G-A c.176G>A p.S59N Missense 2/5 - 1
22-51177798-C-T c.177C>T p.S59= Synonymous 2/5 - 2
22-51177799-CT-GC c.178_179delinsGC p.L60A Missense 2/5 - 2
22-51177799-CT-TG c.178_179delinsTG p.L60C Missense 2/5 - 2
22-51177801-C-A c.180C>A p.L60= Synonymous 2/5 - 1
22-51177801-C-G c.180C>G p.L60= Synonymous 2/5 - 1
22-51177801-C-T c.180C>T p.L60= Synonymous 2/5 - 1
22-51177802-C-A c.181C>A p.Q61K Missense 2/5 - 1
22-51177805-A-C c.184A>C p.I62L Missense 2/5 - 1
22-51177805-A-G c.184A>G p.I62V Missense 2/5 - 1
22-51177805-AT-TG c.184_185delinsTG p.I62C Missense 2/5 - 1
22-51177808-T-G c.187T>G p.F63V Missense 2/5 - 1
22-51177809-TC-AA c.188_189delinsAA p.F63* Nonsense 2/5 - 1
22-51177811-A-G c.190A>G p.T64A Missense 2/5 - 1
22-51177812-C-T c.191C>T p.T64M Missense 2/5 - 1
22-51177821-G-T c.200G>T p.S67I Missense 2/5 - 1
22-51177826-A-T c.205A>T p.R69W Missense 2/5 - 1
22-51177827-G-C c.206G>C p.R69T Missense 2/5 - 1
22-51177830-A-G c.209A>G p.Y70C Missense 2/5 - 1
22-51177831-C-T c.210C>T p.Y70= Synonymous 2/5 - 1
22-51177835-AC-GA c.214_215delinsGA p.T72E Missense 2/5 - 1
22-51177835-A-G c.214A>G p.T72A Missense 2/5 - 1
22-51177838-T-A c.217T>A p.C73S Missense 2/5 - 1
22-51177839-G-C c.218G>C p.C73S Missense 2/5 - 1
22-51177840-T-A c.219T>A p.C73* Nonsense 2/5 - 1
22-51177842-G-T c.221G>T p.G74V Missense 2/5 - 1
22-51177844-G-T c.223G>T p.G75C Missense 2/5 - 1
22-51177846-C-G c.225C>G p.G75= Synonymous 2/5 - 1
22-51177847-AG-GC c.226_227delinsGC p.S76A Missense 2/5 - 1
22-51177852-G-A c.231G>A p.L77= Synonymous 2/5 - 1
22-51177852-G-T c.231G>T p.L77F Missense 2/5 - 1
22-51177853-CT-GC c.232_233delinsGC p.L78A Missense 2/5 - 1
22-51177856-AAT-GAG c.235_237delinsGAG p.N79E Missense 2/5 - 1
22-51177861-A-G c.240A>G p.S80= Synonymous 2/5 - 1
22-51177862-CG-GA c.241_242delinsGA p.R81E Missense 2/5 - 2
22-51177862-C-T c.241C>T p.R81* Nonsense 2/5 - 1
22-51177863-G-T c.242G>T p.R81L Missense 2/5 - 1
22-51177869-T-C c.248T>C p.V83A Missense 2/5 - 1
22-51177871-C-T c.250C>T p.L84F Missense 2/5 - 3
22-51177874-A-G c.253A>G p.T85A Missense 2/5 - 1
22-51177878-CT-AG c.257_258inv p.A86E Missense 2/5 - 1
22-51177881-CT-AG c.260_261inv p.A87E Missense 2/5 - 1
22-51177883-C-T c.262C>T p.H88Y Missense 2/5 - 1
22-51177884-A-G c.263A>G p.H88R Missense 2/5 - 1
22-51177886-TG-CT c.265_266delinsCT p.C89L Missense 2/5 - 1
22-51177886-TG-GA c.265_266delinsGA p.C89D Missense 2/5 - 1
22-51177889-TT-GC c.268_269delinsGC p.F90A Missense 2/5 - 1
22-51177892-G-A c.271G>A p.V91I Missense 2/5 - 3
22-51177893-T-C c.272T>C p.V91A Missense 2/5 - 1
22-51177896-G-A c.275G>A p.G92D Missense 2/5 - 1
22-51177898-A-G c.277A>G p.K93E Missense 2/5 - 3
22-51177899-A-G c.278A>G p.K93R Missense 2/5 - 1
22-51177900-A-C c.279A>C p.K93N Missense 2/5 - 2
22-51177900-A-G c.279A>G p.K93= Synonymous 2/5 - 1
22-51177900-A-T c.279A>T p.K93N Missense 2/5 - 2
22-51177904-T-C c.281+2T>C - IntronicSNV - 2/4 1
22-51177928-G-A c.281+26G>A - IntronicSNV - 2/4 1
22-51177954-A-G c.281+52A>G - IntronicSNV - 2/4 1
22-51178090-G-A c.282-32G>A - IntronicSNV - 2/4 2
22-51178123-AAT-TAA c.283_285delinsTAA p.N95* Nonsense 3/5 - 1
22-51178124-A-G c.284A>G p.N95S Missense 3/5 - 1
22-51178132-G-A c.292G>A p.D98N Missense 3/5 - 1
22-51178132-G-T c.292G>T p.D98Y Missense 3/5 - 1
22-51178136-G-T c.296G>T p.W99L Missense 3/5 - 1
22-51178137-G-A c.297G>A p.W99* Nonsense 3/5 - 1
22-51178138-A-G c.298A>G p.R100G Missense 3/5 - 1
22-51178141-CTG-ATC c.301_303delinsATC p.L101I Missense 3/5 - 1
22-51178146-T-C c.306T>C p.V102= Synonymous 3/5 - 1
22-51178147-TT-AA c.307_308inv p.F103N Missense 3/5 - 2
22-51178149-C-T c.309C>T p.F103= Synonymous 3/5 - 1
22-51178151-GA-AC c.311_312delinsAC p.G104D Missense 3/5 - 1
22-51178159-G-A c.319G>A p.E107K Missense 3/5 - 2
22-51178159-GA-AG c.319_320delinsAG p.E107R Missense 3/5 - 1
22-51178165-A-G c.325A>G p.T109A Missense 3/5 - 2
22-51178171-GGG-AGC c.331_333delinsAGC p.G111S Missense 3/5 - 1
22-51178174-A-G c.334A>G p.N112D Missense 3/5 - 1
22-51178177-A-C c.337A>C p.N113H Missense 3/5 - 1
22-51178177-A-G c.337A>G p.N113D Missense 3/5 - 1
22-51178184-C-A c.344C>A p.P115Q Missense 3/5 - 2
22-51178188-A-G c.348A>G p.V116= Synonymous 3/5 - 1
22-51178189-A-G c.349A>G p.K117E Missense 3/5 - 1
22-51178190-A-G c.350A>G p.K117R Missense 3/5 - 1
22-51178192-G-T c.352G>T p.A118S Missense 3/5 - 1
22-51178193-C-G c.353C>G p.A118G Missense 3/5 - 6
22-51178193-C-T c.353C>T p.A118V Missense 3/5 - 4
22-51178194-G-A c.354G>A p.A118= Synonymous 3/5 - 2
22-51178194-G-C c.354G>C p.A118= Synonymous 3/5 - 1
22-51178194-G-T c.354G>T p.A118= Synonymous 3/5 - 1
22-51178195-C-T c.355C>T p.P119S Missense 3/5 - 1
22-51178198-C-G c.358C>G p.L120V Missense 3/5 - 1
22-51178198-CTG-TTT c.358_360delinsTTT p.L120F Missense 3/5 - 1
22-51178199-T-C c.359T>C p.L120P Missense 3/5 - 1
22-51178204-GA-TC c.364_365inv p.E122S Missense 3/5 - 1
22-51178204-G-C c.364G>C p.E122Q Missense 3/5 - 1
22-51178211-A-G c.371A>G p.Y124C Missense 3/5 - 1
22-51178216-G-A c.376G>A p.E126K Missense 3/5 - 1
22-51178219-AA-CT c.379_380delinsCT p.K127L Missense 3/5 - 1
22-51178219-A-G c.379A>G p.K127E Missense 3/5 - 2
22-51178220-A-G c.380A>G p.K127R Missense 3/5 - 2
22-51178221-A-G c.381A>G p.K127= Synonymous 3/5 - 1
22-51178223-T-C c.383T>C p.I128T Missense 3/5 - 2
22-51178224-C-A c.384C>A p.I128= Synonymous 3/5 - 4
22-51178224-C-T c.384C>T p.I128= Synonymous 3/5 - 2
22-51178228-A-G c.388A>G p.I130V Missense 3/5 - 1
22-51178229-T-C c.389T>C p.I130T Missense 3/5 - 1
22-51178230-T-A c.390T>A p.I130= Synonymous 3/5 - 2
22-51178230-T-C c.390T>C p.I130= Synonymous 3/5 - 3
22-51178231-CA-TT c.391_392delinsTT p.H131F Missense 3/5 - 1
22-51178232-A-G c.392A>G p.H131R Missense 3/5 - 8
22-51178234-G-A c.394G>A p.E132K Missense 3/5 - 3
22-51178234-G-C c.394G>C p.E132Q Missense 3/5 - 2
22-51178238-AA-TG c.398_399delinsTG p.K133M Missense 3/5 - 1
22-51178240-T-A c.400T>A p.Y134N Missense 3/5 - 1
22-51178246-TC-AA c.406_407delinsAA p.S136N Missense 3/5 - 1
22-51178247-C-A c.407C>A p.S136Y Missense 3/5 - 1
22-51178248-T-A c.408T>A p.S136= Synonymous 3/5 - 1
22-51178248-T-C c.408T>C p.S136= Synonymous 3/5 - 1
22-51178248-T-G c.408T>G p.S136= Synonymous 3/5 - 1
22-51178249-G-A c.409G>A p.A137T Missense 3/5 - 2
22-51178250-C-T c.410C>T p.A137V Missense 3/5 - 2
22-51178251-G-A c.411G>A p.A137= Synonymous 3/5 - 2
22-51178251-G-C c.411G>C p.A137= Synonymous 3/5 - 2
22-51178251-G-T c.411G>T p.A137= Synonymous 3/5 - 2
22-51178253-CA-TG c.413_414inv p.T138M Missense 3/5 - 1
22-51178253-C-T c.413C>T p.T138I Missense 3/5 - 2
22-51178254-A-C c.414A>C p.T138= Synonymous 3/5 - 1
22-51178254-A-G c.414A>G p.T138= Synonymous 3/5 - 1
22-51178254-A-T c.414A>T p.T138= Synonymous 3/5 - 1
22-51178255-G-A c.415G>A p.E139K Missense 3/5 - 5
22-51178258-GGA-AGC c.418_420delinsAGC p.G140S Missense 3/5 - 1
22-51178259-G-A c.419G>A p.G140E Missense 3/5 - 4
22-51178259-G-C c.419G>C p.G140A Missense 3/5 - 1
22-51178262-A-G c.422A>G p.N141S Missense 3/5 - 1
22-51178265-A-G c.425A>G p.D142G Missense 3/5 - 1
22-51178266-C-T c.426C>T p.D142= Synonymous 3/5 - 1
22-51178267-A-G c.427A>G p.I143V Missense 3/5 - 1
22-51178270-G-T c.430G>T p.A144S Missense 3/5 - 1
22-51178273-C-G c.433C>G p.L145V Missense 3/5 - 1
22-51178273-C-T c.433C>T p.L145F Missense 3/5 - 1
22-51178276-G-A c.436G>A p.V146M Missense 3/5 - 1
22-51178279-G-A c.439G>A p.E147K Missense 3/5 - 2
22-51178279-G-C c.439G>C p.E147Q Missense 3/5 - 1
22-51178281-G-T c.441G>T p.E147D Missense 3/5 - 2
22-51178284-C-A c.444C>A p.I148= Synonymous 3/5 - 1
22-51178284-C-G c.444C>G p.I148M Missense 3/5 - 3
22-51178284-C-T c.444C>T p.I148= Synonymous 3/5 - 3
22-51178286-C-T c.446C>T p.T149I Missense 3/5 - 1
22-51178289-C-T c.449C>T p.P150L Missense 3/5 - 1
22-51178293-C-T c.453C>T p.P151= Synonymous 3/5 - 2
22-51178294-A-C c.454A>C p.I152L Missense 3/5 - 2
22-51178296-T-C c.456T>C p.I152= Synonymous 3/5 - 1
22-51178298-C-T c.458C>T p.S153L Missense 3/5 - 8
22-51178307-G-A c.467G>A p.R156H Missense 3/5 - 2
22-51178307-G-C c.467G>C p.R156P Missense 3/5 - 1
22-51178311-C-T c.471C>T p.F157= Synonymous 3/5 - 1
22-51178312-A-G c.472A>G p.I158V Missense 3/5 - 1
22-51178313-T-C c.473T>C p.I158T Missense 3/5 - 1
22-51178316-G-A c.476G>A p.G159E Missense 3/5 - 2
22-51178316-G-T c.476G>T p.G159V Missense 3/5 - 1
22-51178319-C-T c.479C>T p.P160L Missense 3/5 - 1
22-51178320-G-A c.480G>A p.P160= Synonymous 3/5 - 4
22-51178320-G-C c.480G>C p.P160= Synonymous 3/5 - 1
22-51178320-G-T c.480G>T p.P160= Synonymous 3/5 - 1
22-51178321-G-A c.481G>A p.G161S Missense 3/5 - 1
22-51178322-G-A c.482G>A p.G161D Missense 3/5 - 2
22-51178325-G-A c.485G>A p.C162Y Missense 3/5 - 1
22-51178327-C-T c.487C>T p.L163= Synonymous 3/5 - 3
22-51178327-CTG-ATC c.487_489delinsATC p.L163I Missense 3/5 - 1
22-51178336-T-C c.496T>C p.F166L Missense 3/5 - 1
22-51178338-T-A c.498T>A p.F166L Missense 3/5 - 1
22-51178338-T-G c.498T>G p.F166L Missense 3/5 - 1
22-51178337-T-G c.497T>G p.F166C Missense 3/5 - 1
22-51178340-A-C c.500A>C p.K167T Missense 3/5 - 1
22-51178341-G-A c.501G>A p.K167= Synonymous 3/5 - 1
22-51178343-C-G c.503C>G p.A168G Missense 3/5 - 1
22-51178345-G-A c.505G>A p.G169S Missense 3/5 - 1
22-51178348-CT-AA c.508_509delinsAA p.L170N Missense 3/5 - 1
22-51178353-C-A c.513C>A p.P171= Synonymous 3/5 - 1
22-51178353-C-G c.513C>G p.P171= Synonymous 3/5 - 1
22-51178353-C-T c.513C>T p.P171= Synonymous 3/5 - 1
22-51178354-AGA-CAT c.514_516delinsCAT p.R172H Missense 3/5 - 1
22-51178354-AG-CC c.514_515delinsCC p.R172P Missense 3/5 - 1
22-51178355-G-A c.515G>A p.R172K Missense 3/5 - 1
22-51178356-A-C c.516A>C p.R172S Missense 3/5 - 1
22-51178356-A-T c.516A>T p.R172S Missense 3/5 - 1
22-51178357-GGC-AAG c.517_519delinsAAG p.G173K Missense 3/5 - 1
22-51178359-C-T c.519C>T p.G173= Synonymous 3/5 - 1
22-51178361-C-G c.521C>G p.S174C Missense 3/5 - 1
22-51178366-AG-CT c.526_527inv p.S176L Missense 3/5 - 1
22-51178370-G-T c.530G>T p.C177F Missense 3/5 - 1
22-51178372-T-A c.532T>A p.W178R Missense 3/5 - 1
22-51178372-T-C c.532T>C p.W178R Missense 3/5 - 1
22-51178375-GTG-ATC c.535_537delinsATC p.V179I Missense 3/5 - 1
22-51178376-TG-AC c.536_537delinsAC p.V179D Missense 3/5 - 2
22-51178380-C-G c.540C>G p.A180= Synonymous 3/5 - 1
22-51178381-G-A c.541G>A p.G181S Missense 3/5 - 3
22-51178381-G-T c.541G>T p.G181C Missense 3/5 - 1
22-51178387-G-T c.547G>T p.G183* Nonsense 3/5 - 1
22-51178388-G-A c.548G>A p.G183E Missense 3/5 - 2
22-51178388-G-C c.548G>C p.G183A Missense 3/5 - 1
22-51178392-T-A c.552T>A p.Y184* Nonsense 3/5 - 1
22-51178392-T-G c.552T>G p.Y184* Nonsense 3/5 - 1
22-51178394-T-C c.554T>C p.I185T Missense 3/5 - 3
22-51178395-A-G c.555A>G p.I185M Missense 3/5 - 1
22-51178399-G-A c.559G>A p.E187K Missense 3/5 - 1
22-51178401-G-A c.561G>A p.E187= Synonymous 3/5 - 1
22-51178401-G-C c.561G>C p.E187D Missense 3/5 - 1
22-51178402-AA-GC c.562_563delinsGC p.K188A Missense 3/5 - 2
22-51178402-A-G c.562A>G p.K188E Missense 3/5 - 2
22-51178607-G-A c.565+202G>A - IntronicSNV - 3/4 2
22-51178607-G-C c.565+202G>C - IntronicSNV - 3/4 3
22-51178607-G-T c.565+202G>T - IntronicSNV - 3/4 2
22-51179000-C-A c.565+595C>A - IntronicSNV - 3/4 5
22-51179000-C-T c.565+595C>T - IntronicSNV - 3/4 3
22-51179029-T-C c.565+624T>C - IntronicSNV - 3/4 1
22-51179189-T-C c.565+784T>C - IntronicSNV - 3/4 1
22-51180862-C-G c.566-1627C>G - IntronicSNV - 3/4 1
22-51180862-C-T c.566-1627C>T - IntronicSNV - 3/4 1
22-51181919-G-C c.566-570G>C - IntronicSNV - 3/4 1
22-51182447-G-A c.566-42G>A - IntronicSNV - 3/4 1
22-51182485-A-G c.566-4A>G - IntronicSNV - 3/4 14
22-51182492-C-T c.569C>T p.P190L Missense 4/5 - 1
22-51182498-C-T c.575C>T p.P192L Missense 4/5 - 2
22-51182501-C-T c.578C>T p.S193L Missense 4/5 - 2
22-51182515-G-A c.592G>A p.E198K Missense 4/5 - 3
22-51182516-A-C c.593A>C p.E198A Missense 4/5 - 1
22-51182520-A-G c.597A>G p.A199= Synonymous 4/5 - 1
22-51182521-C-A c.598C>A p.R200S Missense 4/5 - 1
22-51182521-CGT-TGG c.598_600delinsTGG p.R200W Missense 4/5 - 1
22-51182521-C-T c.598C>T p.R200C Missense 4/5 - 1
22-51182522-G-C c.599G>C p.R200P Missense 4/5 - 2
22-51182523-T-A c.600T>A p.R200= Synonymous 4/5 - 1
22-51182523-T-C c.600T>C p.R200= Synonymous 4/5 - 1
22-51182523-T-G c.600T>G p.R200= Synonymous 4/5 - 1
22-51182524-G-A c.601G>A p.V201M Missense 4/5 - 1
22-51182524-GTG-ATC c.601_603delinsATC p.V201I Missense 4/5 - 1
22-51182525-TG-AC c.602_603delinsAC p.V201D Missense 4/5 - 1
22-51182526-G-A c.603G>A p.V201= Synonymous 4/5 - 1
22-51182526-G-C c.603G>C p.V201= Synonymous 4/5 - 1
22-51182526-G-T c.603G>T p.V201= Synonymous 4/5 - 1
22-51182527-G-A c.604G>A p.D202N Missense 4/5 - 1
22-51182532-C-A c.609C>A p.L203= Synonymous 4/5 - 2
22-51182532-C-G c.609C>G p.L203= Synonymous 4/5 - 2
22-51182532-C-T c.609C>T p.L203= Synonymous 4/5 - 3
22-51182533-A-C c.610A>C p.I204L Missense 4/5 - 4
22-51182535-C-A c.612C>A p.I204= Synonymous 4/5 - 2
22-51182535-C-T c.612C>T p.I204= Synonymous 4/5 - 2
22-51182536-G-A c.613G>A p.D205N Missense 4/5 - 4
22-51182541-G-T c.618G>T p.L206= Synonymous 4/5 - 1
22-51182542-G-A c.619G>A p.D207N Missense 4/5 - 1
22-51182548-TG-AC c.625_626delinsAC p.C209T Missense 4/5 - 2
22-51182551-A-G c.628A>G p.N210D Missense 4/5 - 1
22-51182555-C-T c.632C>T p.S211L Missense 4/5 - 1
22-51182556-G-A c.633G>A p.S211= Synonymous 4/5 - 1
22-51182558-C-A c.635C>A p.T212N Missense 4/5 - 1
22-51182560-CA-TG c.637_638inv p.Q213W Missense 4/5 - 1
22-51182563-T-A c.640T>A p.W214R Missense 4/5 - 1
22-51182563-T-C c.640T>C p.W214R Missense 4/5 - 1
22-51182567-A-G c.644A>G p.Y215C Missense 4/5 - 1
22-51182572-G-A c.649G>A p.G217R Missense 4/5 - 3
22-51182573-G-A c.650G>A p.G217E Missense 4/5 - 1
22-51182574-G-A c.651G>A p.G217= Synonymous 4/5 - 1
22-51182575-CGC-TGG c.652_654delinsTGG p.R218W Missense 4/5 - 1
22-51182575-C-T c.652C>T p.R218C Missense 4/5 - 4
22-51182576-GC-AA c.653_654delinsAA p.R218Q Missense 4/5 - 1
22-51182577-C-A c.654C>A p.R218= Synonymous 4/5 - 3
22-51182577-C-G c.654C>G p.R218= Synonymous 4/5 - 3
22-51182577-C-T c.654C>T p.R218= Synonymous 4/5 - 5
22-51182578-G-A c.655G>A p.V219I Missense 4/5 - 4
22-51182578-GT-AA c.655_656delinsAA p.V219N Missense 4/5 - 2
22-51182579-T-A c.656T>A p.V219D Missense 4/5 - 2
22-51182580-T-C c.657T>C p.V219= Synonymous 4/5 - 1
22-51182581-C-T c.658C>T p.Q220* Nonsense 4/5 - 3
22-51182582-A-T c.659A>T p.Q220L Missense 4/5 - 5
22-51182583-G-A c.660G>A p.Q220= Synonymous 4/5 - 1
22-51182587-A-G c.664A>G p.T222A Missense 4/5 - 1
22-51182591-A-G c.668A>G p.N223S Missense 4/5 - 1
22-51182592-T-A c.669T>A p.N223K Missense 4/5 - 1
22-51182592-T-G c.669T>G p.N223K Missense 4/5 - 1
22-51182593-G-A c.670G>A p.V224M Missense 4/5 - 1
22-51182593-G-C c.670G>C p.V224L Missense 4/5 - 2
22-51182596-T-A c.673T>A p.C225S Missense 4/5 - 1
22-51182597-G-C c.674G>C p.C225S Missense 4/5 - 1
22-51182598-C-T c.675C>T p.C225= Synonymous 4/5 - 1
22-51182600-C-T c.677C>T p.A226V Missense 4/5 - 8
22-51182601-G-C c.678G>C p.A226= Synonymous 4/5 - 1
22-51182602-G-A c.679G>A p.G227R Missense 4/5 - 2
22-51182603-G-A c.680G>A p.G227E Missense 4/5 - 2
22-51182603-G-T c.680G>T p.G227V Missense 4/5 - 1
22-51182604-G-A c.681G>A p.G227= Synonymous 4/5 - 1
22-51182604-G-C c.681G>C p.G227= Synonymous 4/5 - 1
22-51182608-C-T c.685C>T p.P229S Missense 4/5 - 1
22-51182615-G-A c.692G>A p.G231D Missense 4/5 - 1
22-51182619-G-A c.696G>A p.K232= Synonymous 4/5 - 1
22-51182619-G-T c.696G>T p.K232N Missense 4/5 - 1
22-51182622-C-G c.699C>G p.I233M Missense 4/5 - 1
22-51182622-C-T c.699C>T p.I233= Synonymous 4/5 - 1
22-51182623-G-A c.700G>A p.D234N Missense 4/5 - 7
22-51182625-C-T c.702C>T p.D234= Synonymous 4/5 - 1
22-51182627-C-T c.704C>T p.T235I Missense 4/5 - 1
22-51182631-C-T c.708C>T p.C236= Synonymous 4/5 - 2
22-51183017-C-T c.712-64C>T - IntronicSNV - 4/4 2
22-51183081-G-A c.712G>A p.G238R Missense 5/5 - 3
22-51183081-G-C c.712G>C p.G238R Missense 5/5 - 2
22-51183082-G-A c.713G>A p.G238E Missense 5/5 - 1
22-51183082-G-C c.713G>C p.G238A Missense 5/5 - 3
22-51183087-A-G c.718A>G p.S240G Missense 5/5 - 1
22-51183088-G-A c.719G>A p.S240N Missense 5/5 - 1
22-51183088-G-C c.719G>C p.S240T Missense 5/5 - 1
22-51183090-G-A c.721G>A p.G241S Missense 5/5 - 1
22-51183090-G-C c.721G>C p.G241R Missense 5/5 - 1
22-51183091-G-A c.722G>A p.G241D Missense 5/5 - 1
22-51183091-GC-AG c.722_723delinsAG p.G241E Missense 5/5 - 1
22-51183093-G-C c.724G>C p.G242R Missense 5/5 - 1
22-51183094-G-A c.725G>A p.G242E Missense 5/5 - 1
22-51183102-A-G c.733A>G p.M245V Missense 5/5 - 1
22-51183103-T-C c.734T>C p.M245T Missense 5/5 - 1
22-51183104-G-A c.735G>A p.M245I Missense 5/5 - 1
22-51183107-C-T c.738C>T p.C246= Synonymous 5/5 - 1
22-51183109-A-T c.740A>T p.K247I Missense 5/5 - 1
22-51183115-G-A c.746G>A p.S249N Missense 5/5 - 1
22-51183120-G-A c.751G>A p.E251K Missense 5/5 - 4
22-51183122-A-G c.753A>G p.E251= Synonymous 5/5 - 1
22-51183123-A-G c.754A>G p.S252G Missense 5/5 - 1
22-51183125-C-T c.756C>T p.S252= Synonymous 5/5 - 1
22-51183126-G-A c.757G>A p.A253T Missense 5/5 - 1
22-51183135-G-A c.766G>A p.V256I Missense 5/5 - 3
22-51183137-C-T c.768C>T p.V256= Synonymous 5/5 - 3
22-51183138-G-A c.769G>A p.V257M Missense 5/5 - 2
22-51183139-T-C c.770T>C p.V257A Missense 5/5 - 1
22-51183142-G-A c.773G>A p.G258E Missense 5/5 - 2
22-51183143-A-G c.774A>G p.G258= Synonymous 5/5 - 1
22-51183146-C-A c.777C>A p.I259= Synonymous 5/5 - 1
22-51183146-C-T c.777C>T p.I259= Synonymous 5/5 - 1
22-51183156-G-A c.787G>A p.G263R Missense 5/5 - 1
22-51183156-GG-TA c.787_788delinsTA p.G263* Nonsense 5/5 - 1
22-51183157-G-C c.788G>C p.G263A Missense 5/5 - 1
22-51183158-G-A c.789G>A p.G263= Synonymous 5/5 - 1
22-51183153-TG-T c.790del p.V264* Frameshift 5/5 - 1
22-51183159-GT-TA c.790_791delinsTA p.V264* Nonsense 5/5 - 1
22-51183160-T-C c.791T>C p.V264A Missense 5/5 - 1
22-51183160-T-G c.791T>G p.V264G Missense 5/5 - 1
22-51183163-G-A c.794G>A p.G265D Missense 5/5 - 2
22-51183163-G-C c.794G>C p.G265A Missense 5/5 - 1
22-51183164-C-A c.795C>A p.G265= Synonymous 5/5 - 2
22-51183164-C-G c.795C>G p.G265= Synonymous 5/5 - 2
22-51183164-C-T c.795C>T p.G265= Synonymous 5/5 - 3
22-51183166-G-A c.797G>A p.C266Y Missense 5/5 - 3
22-51183167-T-G c.798T>G p.C266W Missense 5/5 - 1
22-51183168-G-A c.799G>A p.A267T Missense 5/5 - 1
22-51183169-C-T c.800C>T p.A267V Missense 5/5 - 1
22-51183172-G-A c.803G>A p.R268H Missense 5/5 - 1
22-51183180-CGC-AAG c.811_813delinsAAG p.R271K Missense 5/5 - 1
22-51183180-C-T c.811C>T p.R271C Missense 5/5 - 1
22-51183181-G-A c.812G>A p.R271H Missense 5/5 - 1
22-51183184-C-T c.815C>T p.P272L Missense 5/5 - 1
22-51183185-C-T c.816C>T p.P272= Synonymous 5/5 - 1
22-51183186-G-A c.817G>A p.G273R Missense 5/5 - 2
22-51183186-G-C c.817G>C p.G273R Missense 5/5 - 1
22-51183187-G-T c.818G>T p.G273V Missense 5/5 - 4
22-51183189-A-C c.820A>C p.I274L Missense 5/5 - 1
22-51183196-C-T c.827C>T p.T276M Missense 5/5 - 1
22-51183201-A-G c.832A>G p.T278A Missense 5/5 - 1
22-51183202-C-T c.833C>T p.T278I Missense 5/5 - 1
22-51183204-T-A c.835T>A p.W279R Missense 5/5 - 1
22-51183204-T-C c.835T>C p.W279R Missense 5/5 - 2
22-51183206-G-C c.837G>C p.W279C Missense 5/5 - 1
22-51183206-G-T c.837G>T p.W279C Missense 5/5 - 1
22-51183207-C-T c.838C>T p.P280S Missense 5/5 - 2
22-51183208-C-T c.839C>T p.P280L Missense 5/5 - 1
22-51183210-T-G c.841T>G p.Y281D Missense 5/5 - 1
22-51183213-C-G c.844C>G p.L282V Missense 5/5 - 3
22-51183223-T-C c.854T>C p.I285T Missense 5/5 - 1
22-51183224-C-G c.855C>G p.I285M Missense 5/5 - 1
22-51183224-C-T c.855C>T p.I285= Synonymous 5/5 - 1
22-51183225-G-A c.856G>A p.A286T Missense 5/5 - 3
22-51183227-C-G c.858C>G p.A286= Synonymous 5/5 - 1
22-51183230-C-T c.861C>T p.S287= Synonymous 5/5 - 1
22-51183233-G-C c.864G>C p.K288N Missense 5/5 - 1
22-51183233-G-T c.864G>T p.K288N Missense 5/5 - 1
22-51183238-G-A c.869G>A p.G290D Missense 5/5 - 2
22-51183239-T-A c.870T>A p.G290= Synonymous 5/5 - 1
22-51183239-T-C c.870T>C p.G290= Synonymous 5/5 - 1
22-51183239-T-G c.870T>G p.G290= Synonymous 5/5 - 1
22-51183246-G-A c.877G>A p.A293T Missense 5/5 - 2
22-51183247-C-CT c.881dup p.L294Ffs*115 Frameshift 5/5 - 1
22-51183253-G-A c.884G>A p.R295H Missense 5/5 - 1
22-51183253-G-T c.884G>T p.R295L Missense 5/5 - 1
22-51183255-A-G c.886A>G p.M296V Missense 5/5 - 28
22-51183256-T-C c.887T>C p.M296T Missense 5/5 - 1
22-51183261-C-T c.892C>T p.Q298* Nonsense 5/5 - 1
22-51183265-C-T c.896C>T p.S299L Missense 5/5 - 2
22-51183266-G-T c.897G>T p.S299= Synonymous 5/5 - 1
22-51183268-CC-AG c.899_900delinsAG p.A300E Missense 5/5 - 1
22-51183269-C-T c.900C>T p.A300= Synonymous 5/5 - 1
22-51183275-T-G c.906T>G p.P302= Synonymous 5/5 - 2
22-51183276-C-T c.907C>T p.P303S Missense 5/5 - 1
22-51183277-CA-AT c.908_909delinsAT p.P303H Missense 5/5 - 1
22-51183278-A-C c.909A>C p.P303= Synonymous 5/5 - 1
22-51183278-A-G c.909A>G p.P303= Synonymous 5/5 - 1
22-51183278-A-T c.909A>T p.P303= Synonymous 5/5 - 1
22-51183283-C-T c.914C>T p.P305L Missense 5/5 - 3
22-51183286-C-T c.917C>T p.T306I Missense 5/5 - 1
22-51183291-C-T c.922C>T p.R308* Nonsense 5/5 - 1
22-51183292-G-A c.923G>A p.R308Q Missense 5/5 - 4
22-51183294-C-T c.925C>T p.P309S Missense 5/5 - 1
22-51183295-C-T c.926C>T p.P309L Missense 5/5 - 2
22-51183296-G-A c.927G>A p.P309= Synonymous 5/5 - 2
22-51183297-C-T c.928C>T p.P310S Missense 5/5 - 1
22-51183298-C-T c.929C>T p.P310L Missense 5/5 - 1
22-51183307-G-A c.938G>A p.R313Q Missense 5/5 - 1
22-51183310-C-A c.941C>A p.P314H Missense 5/5 - 1
22-51183310-C-T c.941C>T p.P314L Missense 5/5 - 4
22-51183311-C-A c.942C>A p.P314= Synonymous 5/5 - 1
22-51183311-C-G c.942C>G p.P314= Synonymous 5/5 - 1
22-51183311-C-T c.942C>T p.P314= Synonymous 5/5 - 1
22-51183312-C-T c.943C>T p.P315S Missense 5/5 - 2
22-51183314-C-A c.945C>A p.P315= Synonymous 5/5 - 1
22-51183314-C-G c.945C>G p.P315= Synonymous 5/5 - 1
22-51183314-C-T c.945C>T p.P315= Synonymous 5/5 - 2
22-51183315-T-G c.946T>G p.F316V Missense 5/5 - 1
22-51183322-A-C c.953A>C p.H318P Missense 5/5 - 3
22-51183324-C-T c.955C>T p.P319S Missense 5/5 - 1
22-51183329-C-G c.960C>G p.I320M Missense 5/5 - 1
22-51183330-T-C c.961T>C p.S321P Missense 5/5 - 2
22-51183331-C-T c.962C>T p.S321F Missense 5/5 - 3
22-51183332-T-A c.963T>A p.S321= Synonymous 5/5 - 2
22-51183332-T-C c.963T>C p.S321= Synonymous 5/5 - 2
22-51183332-T-G c.963T>G p.S321= Synonymous 5/5 - 2
22-51183340-T-G c.971T>G p.L324R Missense 5/5 - 1
22-51183342-C-T c.973C>T p.P325S Missense 5/5 - 1
22-51183343-C-T c.974C>T p.P325L Missense 5/5 - 2
22-51183347-G-C c.978G>C p.W326C Missense 5/5 - 1
22-51183351-T-C c.982T>C p.F328L Missense 5/5 - 1
22-51183355-A-G c.986A>G p.Q329R Missense 5/5 - 1
22-51183356-A-G c.987A>G p.Q329= Synonymous 5/5 - 1
22-51183357-C-T c.988C>T p.P330S Missense 5/5 - 2
22-51183359-G-A c.990G>A p.P330= Synonymous 5/5 - 1
22-51183360-C-T c.991C>T p.P331S Missense 5/5 - 1
22-51183364-C-T c.995C>T p.P332L Missense 5/5 - 1
22-51183366-C-A c.997C>A p.R333= Synonymous 5/5 - 1
22-51183368-A-C c.999A>C p.R333= Synonymous 5/5 - 1
22-51183368-A-G c.999A>G p.R333= Synonymous 5/5 - 1
22-51183368-A-T c.999A>T p.R333= Synonymous 5/5 - 1
22-51183370-C-T c.1001C>T p.P334L Missense 5/5 - 1
22-51183376-C-T c.1007C>T p.P336L Missense 5/5 - 1
22-51183379-C-T c.1010C>T p.P337L Missense 5/5 - 1
22-51183381-CGA-TGG c.1012_1014delinsTGG p.R338W Missense 5/5 - 1
22-51183381-C-T c.1012C>T p.R338* Nonsense 5/5 - 2
22-51183382-G-C c.1013G>C p.R338P Missense 5/5 - 1
22-51183389-G-A c.1020G>A p.P340= Synonymous 5/5 - 1
22-51183389-G-C c.1020G>C p.P340= Synonymous 5/5 - 2
22-51183389-G-T c.1020G>T p.P340= Synonymous 5/5 - 1
22-51183390-G-T c.1021G>T p.A341S Missense 5/5 - 1
22-51183393-G-A c.1024G>A p.A342T Missense 5/5 - 1
22-51183396-C-G c.1027C>G p.Q343E Missense 5/5 - 1
22-51183397-A-C c.1028A>C p.Q343P Missense 5/5 - 1
22-51183398-G-A c.1029G>A p.Q343= Synonymous 5/5 - 1
22-51183398-G-C c.1029G>C p.Q343H Missense 5/5 - 1
22-51183401-C-G c.1032C>G p.P344= Synonymous 5/5 - 1
22-51183402-CGA-TGT c.1033_1035delinsTGT p.R345C Missense 5/5 - 1
22-51183402-C-T c.1033C>T p.R345* Nonsense 5/5 - 2
22-51183403-GA-CC c.1034_1035delinsCC p.R345P Missense 5/5 - 1
22-51183403-G-C c.1034G>C p.R345P Missense 5/5 - 1
22-51183415-C-T c.1046C>T p.S349L Missense 5/5 - 1
22-51183421-CG-AT c.1052_1053delinsAT p.P351H Missense 5/5 - 1
22-51183421-C-T c.1052C>T p.P351L Missense 5/5 - 2
22-51183422-G-T c.1053G>T p.P351= Synonymous 5/5 - 1
22-51183423-C-G c.1054C>G p.P352A Missense 5/5 - 1
22-51183424-C-T c.1055C>T p.P352L Missense 5/5 - 1
22-51183429-C-T c.1060C>T p.P354S Missense 5/5 - 2
22-51183438-C-T c.1069C>T p.P357S Missense 5/5 - 1
22-51183439-C-T c.1070C>T p.P357L Missense 5/5 - 1
22-51183442-C-A c.1073C>A p.A358D Missense 5/5 - 1
22-51183448-C-T c.1079C>T p.P360L Missense 5/5 - 2
22-51183455-C-T c.1086C>T p.P362= Synonymous 5/5 - 1
22-51183456-C-T c.1087C>T p.P363S Missense 5/5 - 1
22-51183462-C-T c.1093C>T p.P365S Missense 5/5 - 1
22-51183467-C-T c.1098C>T p.P366= Synonymous 5/5 - 1
22-51183472-C-T c.1103C>T p.P368L Missense 5/5 - 1
22-51183477-C-T c.1108C>T p.P370S Missense 5/5 - 1
22-51183478-C-T c.1109C>T p.P370L Missense 5/5 - 1
22-51183484-C-T c.1115C>T p.P372L Missense 5/5 - 1
22-51183486-T-C c.1117T>C p.S373P Missense 5/5 - 1
22-51183490-C-A c.1121C>A p.S374Y Missense 5/5 - 1
22-51183496-C-T c.1127C>T p.T376I Missense 5/5 - 1
22-51183503-T-A c.1134T>A p.L378= Synonymous 5/5 - 1
22-51183503-T-C c.1134T>C p.L378= Synonymous 5/5 - 1
22-51183503-T-G c.1134T>G p.L378= Synonymous 5/5 - 1
22-51183509-A-T c.1140A>T p.Q380H Missense 5/5 - 1
22-51183528-C-T c.1159C>T p.R387C Missense 5/5 - 1
22-51183547-A-G c.1178A>G p.E393G Missense 5/5 - 1
22-51183551-C-T c.1182C>T p.V394= Synonymous 5/5 - 1
22-51183557-G-A c.1188G>A p.K396= Synonymous 5/5 - 1
22-51183558-G-A c.1189G>A p.G397R Missense 5/5 - 2
22-51183558-G-C c.1189G>C p.G397R Missense 5/5 - 2
22-51183565-C-T c.1196C>T p.T399I Missense 5/5 - 2
22-51183567-TA-CG c.1198_1199delinsCG p.Y400R Missense 5/5 - 1
22-51183570-T-C c.1201T>C p.S401P Missense 5/5 - 1
22-51183571-C-T c.1202C>T p.S401F Missense 5/5 - 2
22-51183572-C-T c.1203C>T p.S401= Synonymous 5/5 - 1
22-51183573-G-A c.1204G>A p.D402N Missense 5/5 - 1
22-51183575-C-A c.1206C>A p.D402E Missense 5/5 - 1
22-51183575-C-T c.1206C>T p.D402= Synonymous 5/5 - 1
22-51183576-G-A c.1207G>A p.G403R Missense 5/5 - 1
22-51183588-TA-GT c.1219_1220delinsGT p.Y407V Missense 5/5 - 1
22-51183592-A-C c.1223A>C p.D408A Missense 5/5 - 1
22-51183596-G-A c.1227G>A p.M409I Missense 5/5 - 1
22-51183597-G-A c.1228G>A p.E410K Missense 5/5 - 1
22-51183606-G-T c.1237G>T p.E413* Nonsense 5/5 - 1
22-51183608-G-C c.1239G>C p.E413D Missense 5/5 - 1
22-51183609-CTC-TAA c.1240_1242delinsTAA p.L414* Nonsense 5/5 - 1
22-51183612-C-T c.1243C>T p.P415S Missense 5/5 - 2
22-51183618-C-T c.1249C>T p.L417= Synonymous 5/5 - 1
22-51183632-C-T c.1263C>T p.S421= Synonymous 5/5 - 1