PANX2

PANX2 pannexin 2

Annotation transcript: NM_052839.4

635 unique variant annotations were identified in 312 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
22-50609163-C-CA c.5dup p.H2Qfs*119 Frameshift 1/3 - 1
22-50609169-C-G c.10C>G p.L4V Missense 1/3 - 1
22-50609176-A-G c.17A>G p.E6G Missense 1/3 - 2
22-50609176-A-T c.17A>T p.E6V Missense 1/3 - 1
22-50609186-G-A c.27G>A p.A9= Synonymous 1/3 - 1
22-50609187-GAC-TAA c.28_30delinsTAA p.D10* Nonsense 1/3 - 1
22-50609188-A-G c.29A>G p.D10G Missense 1/3 - 1
22-50609193-GC-CA c.34_35delinsCA p.A12Q Missense 1/3 - 1
22-50609193-GCG-TGT c.34_36delinsTGT p.A12C Missense 1/3 - 1
22-50609206-50609207---GGCGGGAGAGAAGC c.48_61dup p.L21Rfs*9 frameshift_variant 1/3 - 1
22-50609209-C-T c.50C>T p.A17V Missense 1/3 - 1
22-50609212-G-T c.53G>T p.G18V Missense 1/3 - 1
22-50609216-G-A c.57G>A p.E19= Synonymous 1/3 - 1
22-50609232-A-G c.73A>G p.I25V Missense 1/3 - 1
22-50609244-G-A c.85G>A p.A29T Missense 1/3 - 1
22-50609244-GC-CT c.85_86delinsCT p.A29L Missense 1/3 - 2
22-50609245-C-A c.86C>A p.A29E Missense 1/3 - 2
22-50609245-C-T c.86C>T p.A29V Missense 1/3 - 1
22-50609246-G-A c.87G>A p.A29= Synonymous 1/3 - 1
22-50609246-G-C c.87G>C p.A29= Synonymous 1/3 - 1
22-50609246-G-T c.87G>T p.A29= Synonymous 1/3 - 1
22-50609250-G-A c.91G>A p.D31N Missense 1/3 - 1
22-50609259-GC-TA c.100_101delinsTA p.A34* Nonsense 1/3 - 1
22-50609264-C-A c.105C>A p.G35= Synonymous 1/3 - 1
22-50609264-C-G c.105C>G p.G35= Synonymous 1/3 - 1
22-50609264-C-T c.105C>T p.G35= Synonymous 1/3 - 2
22-50609272-C-A c.113C>A p.A38D Missense 1/3 - 1
22-50609272-C-G c.113C>G p.A38G Missense 1/3 - 1
22-50609272-C-T c.113C>T p.A38V Missense 1/3 - 1
22-50609274-GC-AT c.115_116delinsAT p.A39M Missense 1/3 - 2
22-50609275-C-T c.116C>T p.A39V Missense 1/3 - 5
22-50609276-G-A c.117G>A p.A39= Synonymous 1/3 - 1
22-50609276-G-C c.117G>C p.A39= Synonymous 1/3 - 1
22-50609276-G-T c.117G>T p.A39= Synonymous 1/3 - 1
22-50609278-T-C c.119T>C p.L40P Missense 1/3 - 1
22-50609290-T-G c.131T>G p.L44R Missense 1/3 - 1
22-50609292-AAG-TGT c.133_135delinsTGT p.K45C Missense 1/3 - 1
22-50609316-G-A c.157G>A p.V53M Missense 1/3 - 1
22-50609327-C-G c.168C>G p.I56M Missense 1/3 - 2
22-50609328-G-A c.169G>A p.G57S Missense 1/3 - 1
22-50609337-C-T c.178C>T p.L60= Synonymous 1/3 - 2
22-50609339-G-A c.180G>A p.L60= Synonymous 1/3 - 5
22-50609339-G-C c.180G>C p.L60= Synonymous 1/3 - 1
22-50609339-G-T c.180G>T p.L60= Synonymous 1/3 - 1
22-50609340-G-A c.181G>A p.V61M Missense 1/3 - 1
22-50609343-C-T c.184C>T p.P62S Missense 1/3 - 1
22-50609352-C-A c.193C>A p.L65M Missense 1/3 - 2
22-50609352-CTG-TTT c.193_195delinsTTT p.L65F Missense 1/3 - 2
22-50609357-C-A c.198C>A p.V66= Synonymous 1/3 - 1
22-50609357-C-G c.198C>G p.V66= Synonymous 1/3 - 1
22-50609357-C-T c.198C>T p.V66= Synonymous 1/3 - 1
22-50609359-C-T c.200C>T p.T67I Missense 1/3 - 1
22-50609369-C-T c.210C>T p.F70= Synonymous 1/3 - 1
22-50609370-A-T c.211A>T p.T71S Missense 1/3 - 1
22-50609371-C-G c.212C>G p.T71S Missense 1/3 - 1
22-50609379-TT-CA c.220_221delinsCA p.F74H Missense 1/3 - 1
22-50609382-G-A c.223G>A p.A75T Missense 1/3 - 4
22-50609653-A-G c.226+268A>G - IntronicSNV - 1/2 2
22-50610628-G-A c.226+1243G>A - IntronicSNV - 1/2 1
22-50612784-G-A c.227-2584G>A - IntronicSNV - 1/2 1
22-50613714-A-C c.227-1654A>C - IntronicSNV - 1/2 3
22-50613714-A-G c.227-1654A>G - IntronicSNV - 1/2 3
22-50613776-G-A c.227-1592G>A - IntronicSNV - 1/2 1
22-50615369-G-A c.228G>A p.E76= Synonymous 2/3 - 1
22-50615376-A-T c.235A>T p.I79F Missense 2/3 - 1
22-50615379-T-C c.238T>C p.Y80H Missense 2/3 - 3
22-50615386-A-G c.245A>G p.Y82C Missense 2/3 - 1
22-50615392-C-T c.251C>T p.P84L Missense 2/3 - 2
22-50615396-C-T c.255C>T p.H85= Synonymous 2/3 - 1
22-50615399-C-A c.258C>A p.N86K Missense 2/3 - 1
22-50615404-C-T c.263C>T p.T88M Missense 2/3 - 2
22-50615406-C-G c.265C>G p.R89G Missense 2/3 - 1
22-50615406-CGC-GAG c.265_267delinsGAG p.R89E Missense 2/3 - 1
22-50615406-CGC-TGG c.265_267delinsTGG p.R89W Missense 2/3 - 1
22-50615406-CG-GC c.265_266delinsGC p.R89A Missense 2/3 - 2
22-50615406-C-T c.265C>T p.R89C Missense 2/3 - 2
22-50615406-GCGC-G c.265_267del p.R89del InFrameDeletion 2/3 - 1
22-50615407-G-A c.266G>A p.R89H Missense 2/3 - 3
22-50615408-C-A c.267C>A p.R89= Synonymous 2/3 - 2
22-50615408-C-G c.267C>G p.R89= Synonymous 2/3 - 2
22-50615408-C-T c.267C>T p.R89= Synonymous 2/3 - 3
22-50615412-C-T c.271C>T p.Q91* Nonsense 2/3 - 1
22-50615413-A-G c.272A>G p.Q91R Missense 2/3 - 1
22-50615416-C-T c.275C>T p.A92V Missense 2/3 - 1
22-50615417-G-A c.276G>A p.A92= Synonymous 2/3 - 1
22-50615417-G-C c.276G>C p.A92= Synonymous 2/3 - 1
22-50615417-G-T c.276G>T p.A92= Synonymous 2/3 - 1
22-50615419-T-C c.278T>C p.L93P Missense 2/3 - 1
22-50615427-C-A c.286C>A p.R96S Missense 2/3 - 1
22-50615427-C-T c.286C>T p.R96C Missense 2/3 - 2
22-50615428-G-A c.287G>A p.R96H Missense 2/3 - 1
22-50615439-TG-GC c.298_299delinsGC p.W100A Missense 2/3 - 1
22-50615441-G-C c.300G>C p.W100C Missense 2/3 - 1
22-50615441-G-T c.300G>T p.W100C Missense 2/3 - 1
22-50615442-A-C c.301A>C p.T101P Missense 2/3 - 3
22-50615444-G-A c.303G>A p.T101= Synonymous 2/3 - 2
22-50615443-CG-C c.304del p.E102Sfs*132 Frameshift 2/3 - 1
22-50615445-G-A c.304G>A p.E102K Missense 2/3 - 1
22-50615451-C-A c.310C>A p.R104= Synonymous 2/3 - 1
22-50615453-G-A c.312G>A p.R104= Synonymous 2/3 - 1
22-50615453-G-C c.312G>C p.R104= Synonymous 2/3 - 1
22-50615453-G-T c.312G>T p.R104= Synonymous 2/3 - 1
22-50615456-C-T c.315C>T p.D105= Synonymous 2/3 - 3
22-50615458-C-T c.317C>T p.A106V Missense 2/3 - 5
22-50615464-C-A c.323C>A p.P108H Missense 2/3 - 1
22-50615465-C-T c.324C>T p.P108= Synonymous 2/3 - 1
22-50615466-G-A c.325G>A p.G109S Missense 2/3 - 1
22-50615468-C-T c.327C>T p.G109= Synonymous 2/3 - 1
22-50615473-A-G c.332A>G p.D111G Missense 2/3 - 1
22-50615485-G-A c.344G>A p.W115* Nonsense 2/3 - 1
22-50615486-G-A c.345G>A p.W115* Nonsense 2/3 - 1
22-50615492-G-A c.351G>A p.S117= Synonymous 2/3 - 2
22-50615492-G-C c.351G>C p.S117= Synonymous 2/3 - 2
22-50615492-G-T c.351G>T p.S117= Synonymous 2/3 - 2
22-50615494-T-C c.353T>C p.L118P Missense 2/3 - 1
22-50615499-G-T c.358G>T p.E120* Nonsense 2/3 - 1
22-50615504-C-T c.363C>T p.H121= Synonymous 2/3 - 1
22-50615510-C-T c.369C>T p.F123= Synonymous 2/3 - 2
22-50615511-CTG-ATC c.370_372delinsATC p.L124I Missense 2/3 - 1
22-50615519-C-T c.378C>T p.Y126= Synonymous 2/3 - 1
22-50615520-G-A c.379G>A p.A127T Missense 2/3 - 5
22-50615521-C-T c.380C>T p.A127V Missense 2/3 - 1
22-50615522-G-T c.381G>T p.A127= Synonymous 2/3 - 1
22-50615531-C-T c.390C>T p.A130= Synonymous 2/3 - 1
22-50615534-C-T c.393C>T p.F131= Synonymous 2/3 - 1
22-50615537-C-T c.396C>T p.A132= Synonymous 2/3 - 1
22-50615538-G-A c.397G>A p.A133T Missense 2/3 - 1
22-50615549-C-T c.408C>T p.Y136= Synonymous 2/3 - 1
22-50615550-G-A c.409G>A p.V137M Missense 2/3 - 1
22-50615557-C-T c.416C>T p.A139V Missense 2/3 - 2
22-50615558-G-A c.417G>A p.A139= Synonymous 2/3 - 2
22-50615560-T-C c.419T>C p.L140P Missense 2/3 - 1
22-50615563-G-T c.422G>T p.G141V Missense 2/3 - 1
22-50615573-C-T c.432C>T p.F144= Synonymous 2/3 - 2
22-50615574-C-T c.433C>T p.L145= Synonymous 2/3 - 1
22-50615576-G-A c.435G>A p.L145= Synonymous 2/3 - 1
22-50615576-G-C c.435G>C p.L145= Synonymous 2/3 - 2
22-50615576-G-T c.435G>T p.L145= Synonymous 2/3 - 1
22-50615577-G-A c.436G>A p.A146T Missense 2/3 - 1
22-50615581-C-T c.440C>T p.S147F Missense 2/3 - 3
22-50615585-G-A c.444G>A p.T148= Synonymous 2/3 - 2
22-50615585-G-C c.444G>C p.T148= Synonymous 2/3 - 1
22-50615585-G-T c.444G>T p.T148= Synonymous 2/3 - 1
22-50615587-G-A c.446G>A p.R149H Missense 2/3 - 1
22-50615588-C-T c.447C>T p.R149= Synonymous 2/3 - 1
22-50615601-CTC-AAG c.460_462delinsAAG p.L154K Missense 2/3 - 1
22-50615601-GC-G c.460del p.L154Sfs*80 Frameshift 2/3 - 1
22-50615609-C-T c.468C>T p.F156= Synonymous 2/3 - 3
22-50615610-C-T c.469C>T p.L157= Synonymous 2/3 - 1
22-50615615-G-T c.474G>T p.L158= Synonymous 2/3 - 1
22-50615616-C-T c.475C>T p.Q159* Nonsense 2/3 - 2
22-50615625-G-A c.484G>A p.D162N Missense 2/3 - 2
22-50615634-T-TA c.494dup p.Y165* Nonsense 2/3 - 1
22-50615635-A-G c.494A>G p.Y165C Missense 2/3 - 2
22-50615637-C-T c.496C>T p.H166Y Missense 2/3 - 1
22-50615640-C-T c.499C>T p.R167W Missense 2/3 - 3
22-50615641-G-A c.500G>A p.R167Q Missense 2/3 - 2
22-50615641-GG-AT c.500_501delinsAT p.R167H Missense 2/3 - 1
22-50615643-G-A c.502G>A p.A168T Missense 2/3 - 1
22-50615644-C-T c.503C>T p.A168V Missense 2/3 - 1
22-50615645-G-A c.504G>A p.A168= Synonymous 2/3 - 1
22-50615647-C-T c.506C>T p.A169V Missense 2/3 - 1
22-50615649-G-A c.508G>A p.E170K Missense 2/3 - 10
22-50615649-G-C c.508G>C p.E170Q Missense 2/3 - 1
22-50615655-C-T c.514C>T p.R172C Missense 2/3 - 3
22-50615656-G-A c.515G>A p.R172H Missense 2/3 - 1
22-50615658-G-A c.517G>A p.A173T Missense 2/3 - 3
22-50615660-G-A c.519G>A p.A173= Synonymous 2/3 - 4
22-50615660-G-C c.519G>C p.A173= Synonymous 2/3 - 3
22-50615660-G-T c.519G>T p.A173= Synonymous 2/3 - 3
22-50615664-A-G c.523A>G p.K175E Missense 2/3 - 1
22-50615670-G-A c.529G>A p.E177K Missense 2/3 - 2
22-50615672-G-A c.531G>A p.E177= Synonymous 2/3 - 1
22-50615684-G-A c.543G>A p.Q181= Synonymous 2/3 - 1
22-50615684-G-C c.543G>C p.Q181H Missense 2/3 - 1
22-50615694-C-T c.553C>T p.P185S Missense 2/3 - 1
22-50615695-C-T c.554C>T p.P185L Missense 2/3 - 2
22-50615696-G-A c.555G>A p.P185= Synonymous 2/3 - 2
22-50615696-G-C c.555G>C p.P185= Synonymous 2/3 - 2
22-50615696-G-T c.555G>T p.P185= Synonymous 2/3 - 1
22-50615704-C-T c.563C>T p.T188M Missense 2/3 - 2
22-50615705-G-A c.564G>A p.T188= Synonymous 2/3 - 2
22-50615705-G-C c.564G>C p.T188= Synonymous 2/3 - 2
22-50615705-G-T c.564G>T p.T188= Synonymous 2/3 - 2
22-50615710-G-A c.569G>A p.R190H Missense 2/3 - 2
22-50615711-C-A c.570C>A p.R190= Synonymous 2/3 - 1
22-50615711-C-G c.570C>G p.R190= Synonymous 2/3 - 1
22-50615711-C-T c.570C>T p.R190= Synonymous 2/3 - 1
22-50615719-G-A c.578G>A p.R193H Missense 2/3 - 3
22-50615726-C-T c.585C>T p.I195= Synonymous 2/3 - 1
22-50615729-C-A c.588C>A p.I196= Synonymous 2/3 - 1
22-50615729-C-T c.588C>T p.I196= Synonymous 2/3 - 5
22-50615730-G-A c.589G>A p.E197K Missense 2/3 - 1
22-50615732-G-A c.591G>A p.E197= Synonymous 2/3 - 3
22-50615736-G-A c.595G>A p.A199T Missense 2/3 - 1
22-50615737-C-T c.596C>T p.A199V Missense 2/3 - 1
22-50615738-G-A c.597G>A p.A199= Synonymous 2/3 - 1
22-50615738-G-C c.597G>C p.A199= Synonymous 2/3 - 1
22-50615739-G-A c.598G>A p.E200K Missense 2/3 - 1
22-50615745-G-T c.604G>T p.E202* Nonsense 2/3 - 1
22-50615753-C-T c.612C>T p.S204= Synonymous 2/3 - 1
22-50615757-G-A c.616G>A p.E206K Missense 2/3 - 1
22-50615766-C-A c.625C>A p.L209M Missense 2/3 - 1
22-50615770-T-A c.629T>A p.F210Y Missense 2/3 - 2
22-50615771-C-T c.630C>T p.F210= Synonymous 2/3 - 1
22-50615772-G-A c.631G>A p.E211K Missense 2/3 - 1
22-50615780-C-A c.639C>A p.Y213* Nonsense 2/3 - 1
22-50615780-C-G c.639C>G p.Y213* Nonsense 2/3 - 1
22-50615785-A-G c.644A>G p.E215G Missense 2/3 - 2
22-50615790-C-T c.649C>T p.R217C Missense 2/3 - 3
22-50615791-G-A c.650G>A p.R217H Missense 2/3 - 2
22-50615792-C-A c.651C>A p.R217= Synonymous 2/3 - 1
22-50615792-C-G c.651C>G p.R217= Synonymous 2/3 - 2
22-50615792-C-T c.651C>T p.R217= Synonymous 2/3 - 2
22-50615793-G-A c.652G>A p.G218S Missense 2/3 - 1
22-50615795-C-T c.654C>T p.G218= Synonymous 2/3 - 1
22-50615796-CGC-TGG c.655_657delinsTGG p.R219W Missense 2/3 - 1
22-50615796-C-T c.655C>T p.R219C Missense 2/3 - 4
22-50615798-C-T c.657C>T p.R219= Synonymous 2/3 - 1
22-50615800-G-A c.659G>A p.S220N Missense 2/3 - 1
22-50615807-C-T c.666C>T p.F222= Synonymous 2/3 - 2
22-50615823-C-G c.682C>G p.L228V Missense 2/3 - 1
22-50615823-C-T c.682C>T p.L228= Synonymous 2/3 - 2
22-50615825-G-A c.684G>A p.L228= Synonymous 2/3 - 2
22-50615825-G-C c.684G>C p.L228= Synonymous 2/3 - 2
22-50615825-G-T c.684G>T p.L228= Synonymous 2/3 - 2
22-50615829-C-T c.688C>T p.R230W Missense 2/3 - 3
22-50615849-G-A c.708G>A p.L236= Synonymous 2/3 - 1
22-50615855-C-T c.714C>T p.S238= Synonymous 2/3 - 2
22-50615861-G-A c.720G>A p.V240= Synonymous 2/3 - 1
22-50615861-G-C c.720G>C p.V240= Synonymous 2/3 - 1
22-50615861-G-T c.720G>T p.V240= Synonymous 2/3 - 1
22-50615863-C-A c.722C>A p.P241H Missense 2/3 - 1
22-50615867-C-T c.726C>T p.I242= Synonymous 2/3 - 1
22-50615879-C-A c.738C>A p.C246* Nonsense 2/3 - 5
22-50615881-C-T c.740C>T p.T247I Missense 2/3 - 1
22-50615888-C-T c.747C>T p.Y249= Synonymous 2/3 - 1
22-50615889-G-A c.748G>A p.A250T Missense 2/3 - 1
22-50615893-C-T c.752C>T p.T251M Missense 2/3 - 1
22-50615894-G-A c.753G>A p.T251= Synonymous 2/3 - 1
22-50615894-G-C c.753G>C p.T251= Synonymous 2/3 - 1
22-50615894-G-T c.753G>T p.T251= Synonymous 2/3 - 1
22-50615911-T-C c.770T>C p.F257S Missense 2/3 - 1
22-50615912-C-T c.771C>T p.F257= Synonymous 2/3 - 1
22-50615914-C-T c.773C>T p.T258I Missense 2/3 - 2
22-50615915-C-A c.774C>A p.T258= Synonymous 2/3 - 1
22-50615915-C-G c.774C>G p.T258= Synonymous 2/3 - 1
22-50615915-C-T c.774C>T p.T258= Synonymous 2/3 - 1
22-50615918-C-T c.777C>T p.C259= Synonymous 2/3 - 1
22-50615919-G-A c.778G>A p.A260T Missense 2/3 - 1
22-50615919-GCG-TGT c.778_780delinsTGT p.A260C Missense 2/3 - 1
22-50615920-C-T c.779C>T p.A260V Missense 2/3 - 1
22-50615921-G-A c.780G>A p.A260= Synonymous 2/3 - 4
22-50615921-G-C c.780G>C p.A260= Synonymous 2/3 - 4
22-50615921-G-T c.780G>T p.A260= Synonymous 2/3 - 4
22-50615927-C-A c.786C>A p.G262= Synonymous 2/3 - 1
22-50615928-G-A c.787G>A p.A263T Missense 2/3 - 1
22-50615928-G-C c.787G>C p.A263P Missense 2/3 - 1
22-50615928-G-T c.787G>T p.A263S Missense 2/3 - 1
22-50615929-C-T c.788C>T p.A263V Missense 2/3 - 1
22-50615930-G-A c.789G>A p.A263= Synonymous 2/3 - 2
22-50615930-G-C c.789G>C p.A263= Synonymous 2/3 - 1
22-50615930-G-T c.789G>T p.A263= Synonymous 2/3 - 1
22-50615932-C-T c.791C>T p.S264F Missense 2/3 - 1
22-50615934-C-T c.793C>T p.P265S Missense 2/3 - 1
22-50615935-C-T c.794C>T p.P265L Missense 2/3 - 1
22-50615936-G-A c.795G>A p.P265= Synonymous 2/3 - 1
22-50615937-G-A c.796G>A p.D266N Missense 2/3 - 1
22-50615939-C-T c.798C>T p.D266= Synonymous 2/3 - 3
22-50615941-G-A c.800G>A p.G267E Missense 2/3 - 4
22-50615941-G-C c.800G>C p.G267A Missense 2/3 - 1
22-50615942-G-A c.801G>A p.G267= Synonymous 2/3 - 1
22-50615944-C-T c.803C>T p.A268V Missense 2/3 - 1
22-50615946-G-A c.805G>A p.A269T Missense 2/3 - 1
22-50615946-G-T c.805G>T p.A269S Missense 2/3 - 1
22-50615953-C-T c.812C>T p.A271V Missense 2/3 - 5
22-50615954-G-A c.813G>A p.A271= Synonymous 2/3 - 1
22-50615954-G-C c.813G>C p.A271= Synonymous 2/3 - 1
22-50615954-G-T c.813G>T p.A271= Synonymous 2/3 - 1
22-50615957-G-A c.816G>A p.G272= Synonymous 2/3 - 1
22-50615958-C-T c.817C>T p.P273S Missense 2/3 - 1
22-50615959-C-T c.818C>T p.P273L Missense 2/3 - 3
22-50615961-G-A c.820G>A p.A274T Missense 2/3 - 2
22-50615962-C-T c.821C>T p.A274V Missense 2/3 - 5
22-50615963-G-A c.822G>A p.A274= Synonymous 2/3 - 3
22-50615963-G-C c.822G>C p.A274= Synonymous 2/3 - 2
22-50615963-G-T c.822G>T p.A274= Synonymous 2/3 - 2
22-50615967-GC-G c.826del p.R276Afs*2 Frameshift 2/3 - 1
22-50615968-G-A c.827G>A p.R276H Missense 2/3 - 4
22-50615969-C-A c.828C>A p.R276= Synonymous 2/3 - 2
22-50615969-C-G c.828C>G p.R276= Synonymous 2/3 - 2
22-50615969-C-T c.828C>T p.R276= Synonymous 2/3 - 3
22-50615970-G-A c.829G>A p.V277M Missense 2/3 - 2
22-50615970-GTG-ATC c.829_831delinsATC p.V277I Missense 2/3 - 1
22-50615972-G-A c.831G>A p.V277= Synonymous 2/3 - 3
22-50615972-G-C c.831G>C p.V277= Synonymous 2/3 - 2
22-50615972-G-T c.831G>T p.V277= Synonymous 2/3 - 2
22-50615979-A-G c.838A>G p.K280E Missense 2/3 - 1
22-50615983-T-C c.842T>C p.L281P Missense 2/3 - 1
22-50615985-C-A c.844C>A p.P282T Missense 2/3 - 1
22-50615986-C-T c.845C>T p.P282L Missense 2/3 - 2
22-50615987-G-A c.846G>A p.P282= Synonymous 2/3 - 2
22-50615987-G-C c.846G>C p.P282= Synonymous 2/3 - 1
22-50615987-G-T c.846G>T p.P282= Synonymous 2/3 - 1
22-50615990-C-T c.849C>T p.S283= Synonymous 2/3 - 1
22-50615991-G-A c.850G>A p.V284M Missense 2/3 - 5
22-50615993-G-A c.852G>A p.V284= Synonymous 2/3 - 1
22-50615998-T-C c.857T>C p.L286P Missense 2/3 - 1
22-50616000-C-T c.859C>T p.Q287* Nonsense 2/3 - 1
22-50616001-A-C c.860A>C p.Q287P Missense 2/3 - 1
22-50616003-C-T c.862C>T p.R288C Missense 2/3 - 1
22-50616004-G-A c.863G>A p.R288H Missense 2/3 - 2
22-50616005-C-G c.864C>G p.R288= Synonymous 2/3 - 1
22-50616011-C-T c.870C>T p.I290= Synonymous 2/3 - 1
22-50616012-G-A c.871G>A p.A291T Missense 2/3 - 1
22-50616015-G-A c.874G>A p.G292S Missense 2/3 - 1
22-50616015-G-T c.874G>T p.G292C Missense 2/3 - 1
22-50616018-G-A c.877G>A p.V293M Missense 2/3 - 5
22-50616021-G-T c.880G>T p.D294Y Missense 2/3 - 1
22-50616026-C-T c.885C>T p.I295= Synonymous 2/3 - 1
22-50616027-G-A c.886G>A p.V296M Missense 2/3 - 1
22-50616033-C-T c.892C>T p.L298= Synonymous 2/3 - 2
22-50616035-G-A c.894G>A p.L298= Synonymous 2/3 - 3
22-50616035-G-C c.894G>C p.L298= Synonymous 2/3 - 2
22-50616035-G-T c.894G>T p.L298= Synonymous 2/3 - 2
22-50616036-T-C c.895T>C p.C299R Missense 2/3 - 1
22-50616038-C-T c.897C>T p.C299= Synonymous 2/3 - 2
22-50616039-G-C c.898G>C p.V300L Missense 2/3 - 1
22-50616044-G-A c.903G>A p.M301I Missense 2/3 - 1
22-50616044-G-C c.903G>C p.M301I Missense 2/3 - 1
22-50616044-G-T c.903G>T p.M301I Missense 2/3 - 1
22-50616054-A-C c.913A>C p.I305L Missense 2/3 - 1
22-50616057-C-T c.916C>T p.L306F Missense 2/3 - 3
22-50616069-A-C c.928A>C p.I310L Missense 2/3 - 2
22-50616080-C-T c.939C>T p.F313= Synonymous 2/3 - 1
22-50616083-C-T c.942C>T p.I314= Synonymous 2/3 - 1
22-50616087-C-T c.946C>T p.R316C Missense 2/3 - 1
22-50616092-G-T c.951G>T p.K317N Missense 2/3 - 1
22-50616097-A-G c.956A>G p.N319S Missense 2/3 - 2
22-50616098-C-T c.957C>T p.N319= Synonymous 2/3 - 1
22-50616101-C-T c.960C>T p.F320= Synonymous 2/3 - 1
22-50616107-C-T c.966C>T p.F322= Synonymous 2/3 - 2
22-50616117-C-A c.976C>A p.H326N Missense 2/3 - 4
22-50616122-G-A c.981G>A p.K327= Synonymous 2/3 - 2
22-50616127-G-T c.986G>T p.G329V Missense 2/3 - 1
22-50616131-C-G c.990C>G p.I330M Missense 2/3 - 1
22-50616136-CG-TC c.995_996delinsTC p.T332I Missense 2/3 - 1
22-50616136-C-T c.995C>T p.T332M Missense 2/3 - 1
22-50616139-G-A c.998G>A p.R333H Missense 2/3 - 1
22-50616142-G-A c.1001G>A p.R334Q Missense 2/3 - 2
22-50616150-C-T c.1009C>T p.R337C Missense 2/3 - 1
22-50616151-G-A c.1010G>A p.R337H Missense 2/3 - 1
22-50616152-C-A c.1011C>A p.R337= Synonymous 2/3 - 1
22-50616152-C-G c.1011C>G p.R337= Synonymous 2/3 - 1
22-50616152-C-T c.1011C>T p.R337= Synonymous 2/3 - 2
22-50616153-C-T c.1012C>T p.R338C Missense 2/3 - 1
22-50616154-G-A c.1013G>A p.R338H Missense 2/3 - 2
22-50616168-G-A c.1027G>A p.D343N Missense 2/3 - 3
22-50616169-A-G c.1028A>G p.D343G Missense 2/3 - 1
22-50616171-A-C c.1030A>C p.I344L Missense 2/3 - 1
22-50616172-T-G c.1031T>G p.I344S Missense 2/3 - 1
22-50616175-A-G c.1034A>G p.N345S Missense 2/3 - 2
22-50616176-C-T c.1035C>T p.N345= Synonymous 2/3 - 1
22-50616178-T-TA c.1037_1038insA p.L347Pfs*160 Frameshift 2/3 - 1
22-50616179-C-A c.1038C>A p.I346= Synonymous 2/3 - 1
22-50616179-C-T c.1038C>T p.I346= Synonymous 2/3 - 1
22-50616180-CTG-TTT c.1039_1041delinsTTT p.L347F Missense 2/3 - 1
22-50616181-T-C c.1040T>C p.L347P Missense 2/3 - 1
22-50616180-C-T c.1039C>T p.L347= Synonymous 2/3 - 1
22-50616182-G-A c.1041G>A p.L347= Synonymous 2/3 - 1
22-50616182-G-C c.1041G>C p.L347= Synonymous 2/3 - 1
22-50616182-G-T c.1041G>T p.L347= Synonymous 2/3 - 1
22-50616183-G-A c.1042G>A p.A348T Missense 2/3 - 1
22-50616189-T-C c.1048T>C p.F350L Missense 2/3 - 2
22-50616191-C-A c.1050C>A p.F350L Missense 2/3 - 2
22-50616191-C-G c.1050C>G p.F350L Missense 2/3 - 3
22-50616198-G-A c.1057G>A p.E353K Missense 2/3 - 3
22-50616205-G-A c.1064G>A p.R355H Missense 2/3 - 3
22-50616206-C-A c.1065C>A p.R355= Synonymous 2/3 - 1
22-50616206-C-G c.1065C>G p.R355= Synonymous 2/3 - 2
22-50616206-C-T c.1065C>T p.R355= Synonymous 2/3 - 1
22-50616215-C-G c.1074C>G p.I358M Missense 2/3 - 1
22-50616220-C-T c.1079C>T p.S360L Missense 2/3 - 5
22-50616221-G-A c.1080G>A p.S360= Synonymous 2/3 - 1
22-50616221-G-C c.1080G>C p.S360= Synonymous 2/3 - 1
22-50616221-G-T c.1080G>T p.S360= Synonymous 2/3 - 1
22-50616224-C-A c.1083C>A p.L361= Synonymous 2/3 - 1
22-50616224-C-G c.1083C>G p.L361= Synonymous 2/3 - 1
22-50616224-C-T c.1083C>T p.L361= Synonymous 2/3 - 1
22-50616229-G-A c.1088G>A p.R363Q Missense 2/3 - 1
22-50616249-G-A c.1108G>A p.E370K Missense 2/3 - 1
22-50616255-G-A c.1114G>A p.D372N Missense 2/3 - 1
22-50616264-T-C c.1123T>C p.Y375H Missense 2/3 - 1
22-50616267-G-A c.1126G>A p.D376N Missense 2/3 - 4
22-50616272-C-T c.1131C>T p.N377= Synonymous 2/3 - 1
22-50616273-G-A c.1132G>A p.V378M Missense 2/3 - 1
22-50616273-G-C c.1132G>C p.V378L Missense 2/3 - 1
22-50616273-G-T c.1132G>T p.V378L Missense 2/3 - 1
22-50616276-G-A c.1135G>A p.V379I Missense 2/3 - 1
22-50616279-CG-TA c.1138_1139delinsTA p.R380* Nonsense 2/3 - 1
22-50616284-G-A c.1143G>A p.Q381= Synonymous 2/3 - 3
22-50616291-G-A c.1150G>A p.A384T Missense 2/3 - 1
22-50616298-T-C c.1157T>C p.L386P Missense 2/3 - 1
22-50616301-C-T c.1160C>T p.A387V Missense 2/3 - 1
22-50616304-A-T c.1163A>T p.Q388L Missense 2/3 - 1
22-50616305-G-A c.1164G>A p.Q388= Synonymous 2/3 - 1
22-50616318-G-A c.1177G>A p.A393T Missense 2/3 - 1
22-50616321-A-G c.1180A>G p.T394A Missense 2/3 - 1
22-50616322-C-T c.1181C>T p.T394I Missense 2/3 - 1
22-50616324-C-T c.1183C>T p.P395S Missense 2/3 - 3
22-50616328-C-T c.1187C>T p.T396M Missense 2/3 - 1
22-50616336-G-A c.1195G>A p.D399N Missense 2/3 - 2
22-50616340-C-T c.1199C>T p.S400L Missense 2/3 - 1
22-50616343-G-T c.1202G>T p.G401V Missense 2/3 - 1
22-50616340-CG-C c.1204del p.V402Cfs*29 Frameshift 2/3 - 1
22-50616346-T-A c.1205T>A p.V402E Missense 2/3 - 1
22-50616350-G-A c.1209G>A p.Q403= Synonymous 2/3 - 1
22-50616354-G-A c.1213G>A p.V405M Missense 2/3 - 1
22-50616362-C-A c.1221C>A p.P407= Synonymous 2/3 - 1
22-50616365-C-T c.1224C>T p.S408= Synonymous 2/3 - 1
22-50616366-G-A c.1225G>A p.A409T Missense 2/3 - 1
22-50616373-C-T c.1232C>T p.P411L Missense 2/3 - 1
22-50616384-G-A c.1243G>A p.D415N Missense 2/3 - 2
22-50616384-G-C c.1243G>C p.D415H Missense 2/3 - 1
22-50616386-C-A c.1245C>A p.D415E Missense 2/3 - 1
22-50616386-C-T c.1245C>T p.D415= Synonymous 2/3 - 1
22-50616393-G-A c.1252G>A p.A418T Missense 2/3 - 1
22-50616398-G-A c.1257G>A p.E419= Synonymous 2/3 - 1
22-50616399-C-T c.1258C>T p.P420S Missense 2/3 - 1
22-50616401-G-A c.1260G>A p.P420= Synonymous 2/3 - 1
22-50616402-C-A c.1261C>A p.P421T Missense 2/3 - 2
22-50616408-G-A c.1267G>A p.V423I Missense 2/3 - 1
22-50616414-C-T c.1273C>T p.R425W Missense 2/3 - 1
22-50616421-G-T c.1280G>T p.R427L Missense 2/3 - 2
22-50616422-C-T c.1281C>T p.R427= Synonymous 2/3 - 1
22-50616428-G-A c.1287G>A p.K429= Synonymous 2/3 - 1
22-50616442-C-T c.1301C>T p.P434L Missense 2/3 - 1
22-50616453-C-T c.1312C>T p.P438S Missense 2/3 - 1
22-50616458-T-G c.1317T>G p.L439= Synonymous 2/3 - 1
22-50616460-C-T c.1319C>T p.P440L Missense 2/3 - 1
22-50616461-G-A c.1320G>A p.P440= Synonymous 2/3 - 1
22-50616461-G-T c.1320G>T p.P440= Synonymous 2/3 - 1
22-50616468-T-C c.1327T>C p.F443L Missense 2/3 - 1
22-50616470-C-A c.1329C>A p.F443L Missense 2/3 - 1
22-50616470-C-G c.1329C>G p.F443L Missense 2/3 - 1
22-50616483-G-A c.1342G>A p.A448T Missense 2/3 - 1
22-50616483-G-C c.1342G>C p.A448P Missense 2/3 - 1
22-50616483-G-T c.1342G>T p.A448S Missense 2/3 - 1
22-50616484-C-T c.1343C>T p.A448V Missense 2/3 - 2
22-50616492-C-T c.1351C>T p.R451C Missense 2/3 - 1
22-50616505-G-A c.1364G>A p.S455N Missense 2/3 - 1
22-50616510-G-A c.1369G>A p.A457T Missense 2/3 - 1
22-50616521-G-C c.1380G>C p.P460= Synonymous 2/3 - 1
22-50616525-C-T c.1384C>T p.P462S Missense 2/3 - 2
22-50616528-G-A c.1387G>A p.A463T Missense 2/3 - 1
22-50616530-G-A c.1389G>A p.A463= Synonymous 2/3 - 1
22-50616530-G-C c.1389G>C p.A463= Synonymous 2/3 - 1
22-50616530-G-T c.1389G>T p.A463= Synonymous 2/3 - 1
22-50616532-G-A c.1391G>A p.R464H Missense 2/3 - 3
22-50616542-G-A c.1401G>A p.T467= Synonymous 2/3 - 3
22-50616542-G-C c.1401G>C p.T467= Synonymous 2/3 - 2
22-50616542-G-T c.1401G>T p.T467= Synonymous 2/3 - 2
22-50616546-A-T c.1405A>T p.T469S Missense 2/3 - 1
22-50616553-CG-TC c.1412_1413delinsTC p.T471I Missense 2/3 - 1
22-50616553-C-T c.1412C>T p.T471M Missense 2/3 - 2
22-50616555-C-T c.1414C>T p.L472= Synonymous 2/3 - 1
22-50616557-G-A c.1416G>A p.L472= Synonymous 2/3 - 1
22-50616557-G-C c.1416G>C p.L472= Synonymous 2/3 - 1
22-50616557-G-T c.1416G>T p.L472= Synonymous 2/3 - 1
22-50616562-C-T c.1421C>T p.A474V Missense 2/3 - 1
22-50616576-C-T c.1435C>T p.R479C Missense 2/3 - 1
22-50616591-T-G c.1450T>G p.Y484D Missense 2/3 - 1
22-50616603-GG-AC c.1462_1463delinsAC p.G488T Missense 2/3 - 1
22-50616604-G-T c.1463G>T p.G488V Missense 2/3 - 1
22-50616607-GC-AG c.1466_1467delinsAG p.G489E Missense 2/3 - 1
22-50616609-G-A c.1468G>A p.D490N Missense 2/3 - 2
22-50616613-C-T c.1472C>T p.P491L Missense 2/3 - 2
22-50616616-G-GC c.1479dup p.G494Rfs*13 Frameshift 2/3 - 3
22-50616623-C-T c.1482C>T p.G494= Synonymous 2/3 - 2
22-50616624-C-T c.1483C>T p.P495S Missense 2/3 - 1
22-50616626-C-A c.1485C>A p.P495= Synonymous 2/3 - 1
22-50616626-C-G c.1485C>G p.P495= Synonymous 2/3 - 1
22-50616626-C-T c.1485C>T p.P495= Synonymous 2/3 - 1
22-50616627-G-A c.1486G>A p.A496T Missense 2/3 - 1
22-50616627-G-C c.1486G>C p.A496P Missense 2/3 - 1
22-50616632-T-A c.1491T>A p.P497= Synonymous 2/3 - 1
22-50616632-T-C c.1491T>C p.P497= Synonymous 2/3 - 1
22-50616633-TGC-T c.1492_1493del p.A498Pfs*8 Frameshift 2/3 - 1
22-50616636-C-T c.1495C>T p.P499S Missense 2/3 - 1
22-50616636-CCCG-C c.1498_1500del p.A500del InFrameDeletion 2/3 - 1
22-50616639-G-A c.1498G>A p.A500T Missense 2/3 - 3
22-50616639-G-C c.1498G>C p.A500P Missense 2/3 - 3
22-50616644-G-A c.1503G>A p.P501= Synonymous 2/3 - 1
22-50616644-G-C c.1503G>C p.P501= Synonymous 2/3 - 1
22-50616646-C-T c.1505C>T p.P502L Missense 2/3 - 2
22-50616647-G-A c.1506G>A p.P502= Synonymous 2/3 - 1
22-50616647-G-C c.1506G>C p.P502= Synonymous 2/3 - 1
22-50616650-C-A c.1509C>A p.P503= Synonymous 2/3 - 1
22-50616651-G-C c.1510G>C p.A504P Missense 2/3 - 2
22-50616656-T-A c.1515T>A p.P505= Synonymous 2/3 - 13
22-50616656-T-C c.1515T>C p.P505= Synonymous 2/3 - 14
22-50616656-T-G c.1515T>G p.P505= Synonymous 2/3 - 1
22-50616658-A-C c.1517A>C p.D506A Missense 2/3 - 1
22-50616672-C-G c.1531C>G p.R511G Missense 2/3 - 1
22-50616676-A-G c.1535A>G p.H512R Missense 2/3 - 1
22-50616680-C-T c.1539C>T p.F513= Synonymous 2/3 - 2
22-50616684-CT-TC c.1543_1544delinsTC p.L515S Missense 2/3 - 1
22-50616687-G-A c.1546G>A p.D516N Missense 2/3 - 1
22-50616690-G-C c.1549G>C p.V517L Missense 2/3 - 1
22-50616690-G-T c.1549G>T p.V517L Missense 2/3 - 1
22-50616698-C-T c.1557C>T p.P519= Synonymous 2/3 - 1
22-50616721-C-T c.1580C>T p.A527V Missense 2/3 - 1
22-50616738-C-T c.1597C>T p.P533S Missense 2/3 - 1
22-50616739-C-T c.1598C>T p.P533L Missense 2/3 - 1
22-50616740-C-T c.1599C>T p.P533= Synonymous 2/3 - 1
22-50616741-G-A c.1600G>A p.A534T Missense 2/3 - 1
22-50616742-C-T c.1601C>T p.A534V Missense 2/3 - 3
22-50616759-CG-GC c.1618_1619delinsGC p.R540A Missense 2/3 - 1
22-50616764-C-T c.1623C>T p.S541= Synonymous 2/3 - 1
22-50616805-T-C c.1664T>C p.L555P Missense 2/3 - 1
22-50616804-C-T c.1663C>T p.L555= Synonymous 2/3 - 1
22-50616806-A-C c.1665A>C p.L555= Synonymous 2/3 - 6
22-50616806-A-G c.1665A>G p.L555= Synonymous 2/3 - 11
22-50616806-A-T c.1665A>T p.L555= Synonymous 2/3 - 1
22-50616817-C-T c.1676C>T p.P559L Missense 2/3 - 1
22-50616820-C-T c.1679C>T p.A560V Missense 2/3 - 1
22-50617370-G-A c.1698G>A p.P566= Synonymous 3/3 - 3
22-50617370-G-C c.1698G>C p.P566= Synonymous 3/3 - 2
22-50617370-G-T c.1698G>T p.P566= Synonymous 3/3 - 3
22-50617373-C-A c.1701C>A p.L567= Synonymous 3/3 - 1
22-50617377-G-T c.1705G>T p.E569* Nonsense 3/3 - 1
22-50617383-G-A c.1711G>A p.E571K Missense 3/3 - 2
22-50617386-A-T c.1714A>T p.I572F Missense 3/3 - 1
22-50617388-C-T c.1716C>T p.I572= Synonymous 3/3 - 1
22-50617390-C-T c.1718C>T p.P573L Missense 3/3 - 3
22-50617391-G-A c.1719G>A p.P573= Synonymous 3/3 - 1
22-50617391-G-C c.1719G>C p.P573= Synonymous 3/3 - 1
22-50617391-G-T c.1719G>T p.P573= Synonymous 3/3 - 1
22-50617395-C-T c.1723C>T p.P575S Missense 3/3 - 4
22-50617404-C-T c.1732C>T p.P578S Missense 3/3 - 2
22-50617410-CGG-ATC c.1738_1740delinsATC p.R580I Missense 3/3 - 1
22-50617410-C-T c.1738C>T p.R580W Missense 3/3 - 1
22-50617422-C-T c.1750C>T p.P584S Missense 3/3 - 6
22-50617423-C-T c.1751C>T p.P584L Missense 3/3 - 1
22-50617427-G-A c.1755G>A p.S585= Synonymous 3/3 - 1
22-50617427-G-C c.1755G>C p.S585= Synonymous 3/3 - 1
22-50617427-G-T c.1755G>T p.S585= Synonymous 3/3 - 1
22-50617426-CG-C c.1760del p.G587Afs*17 Frameshift 3/3 - 2
22-50617435-C-T c.1763C>T p.P588L Missense 3/3 - 2
22-50617443-G-A c.1771G>A p.V591I Missense 3/3 - 1
22-50617446-C-T c.1774C>T p.R592C Missense 3/3 - 5
22-50617455-C-A c.1783C>A p.P595T Missense 3/3 - 2
22-50617455-C-T c.1783C>T p.P595S Missense 3/3 - 1
22-50617461-G-A c.1789G>A p.A597T Missense 3/3 - 5
22-50617464-C-T c.1792C>T p.P598S Missense 3/3 - 3
22-50617477-C-T c.1805C>T p.P602L Missense 3/3 - 3
22-50617490-C-T c.1818C>T p.A606= Synonymous 3/3 - 1
22-50617494-C-A c.1822C>A p.L608M Missense 3/3 - 1
22-50617497-G-A c.1825G>A p.G609S Missense 3/3 - 1
22-50617503-G-A c.1831G>A p.A611T Missense 3/3 - 1
22-50617504-C-T c.1832C>T p.A611V Missense 3/3 - 1
22-50617505-G-A c.1833G>A p.A611= Synonymous 3/3 - 1
22-50617510-C-T c.1838C>T p.P613L Missense 3/3 - 2
22-50617514-C-T c.1842C>T p.L614= Synonymous 3/3 - 2
22-50617520-C-A c.1848C>A p.I616= Synonymous 3/3 - 2
22-50617520-C-T c.1848C>T p.I616= Synonymous 3/3 - 3
22-50617521-C-T c.1849C>T p.L617= Synonymous 3/3 - 2
22-50617527-C-T c.1855C>T p.R619* Nonsense 3/3 - 2
22-50617532-C-T c.1860C>T p.N620= Synonymous 3/3 - 3
22-50617533-G-A c.1861G>A p.A621T Missense 3/3 - 6
22-50617534-C-T c.1862C>T p.A621V Missense 3/3 - 1
22-50617536-A-C c.1864A>C p.T622P Missense 3/3 - 1
22-50617536-A-T c.1864A>T p.T622S Missense 3/3 - 2
22-50617539-C-G c.1867C>G p.H623D Missense 3/3 - 1
22-50617543-C-T c.1871C>T p.P624L Missense 3/3 - 3
22-50617544-G-A c.1872G>A p.P624= Synonymous 3/3 - 1
22-50617545-C-A c.1873C>A p.L625M Missense 3/3 - 1
22-50617561-C-T c.1889C>T p.T630M Missense 3/3 - 1
22-50617562-G-A c.1890G>A p.T630= Synonymous 3/3 - 1
22-50617562-G-C c.1890G>C p.T630= Synonymous 3/3 - 1
22-50617562-G-T c.1890G>T p.T630= Synonymous 3/3 - 1
22-50617568-C-G c.1896C>G p.Y632* Nonsense 3/3 - 1
22-50617568-C-T c.1896C>T p.Y632= Synonymous 3/3 - 2
22-50617574-C-T c.1902C>T p.A634= Synonymous 3/3 - 1
22-50617576-G-A c.1904G>A p.R635Q Missense 3/3 - 2
22-50617576-G-T c.1904G>T p.R635L Missense 3/3 - 1
22-50617578-G-A c.1906G>A p.E636K Missense 3/3 - 1
22-50617580-G-A c.1908G>A p.E636= Synonymous 3/3 - 2
22-50617584-G-A c.1912G>A p.E638K Missense 3/3 - 1
22-50617584-G-T c.1912G>T p.E638* Nonsense 3/3 - 1
22-50617591-G-A c.1919G>A p.G640E Missense 3/3 - 3
22-50617594-G-C c.1922G>C p.G641A Missense 3/3 - 3
22-50617596-C-T c.1924C>T p.P642S Missense 3/3 - 3
22-50617597-C-A c.1925C>A p.P642H Missense 3/3 - 1
22-50617598-C-T c.1926C>T p.P642= Synonymous 3/3 - 1
22-50617599-C-T c.1927C>T p.R643C Missense 3/3 - 3
22-50617600-G-C c.1928G>C p.R643P Missense 3/3 - 1
22-50617611-G-A c.1939G>A p.D647N Missense 3/3 - 4
22-50617612-A-T c.1940A>T p.D647V Missense 3/3 - 1
22-50617614-G-A c.1942G>A p.V648M Missense 3/3 - 3
22-50617615-T-G c.1943T>G p.V648G Missense 3/3 - 1
22-50617623-C-A c.1951C>A p.L651I Missense 3/3 - 1
22-50617623-CTC-ATG c.1951_1953delinsATG p.L651M Missense 3/3 - 1
22-50617636-C-A c.1964C>A p.P655H Missense 3/3 - 1
22-50617647-C-G c.1975C>G p.Q659E Missense 3/3 - 1
22-50617652-C-T c.1980C>T p.I660= Synonymous 3/3 - 1
22-50617653-C-T c.1981C>T p.L661F Missense 3/3 - 1
22-50617658-C-T c.1986C>T p.I662= Synonymous 3/3 - 2
22-50617659-G-A c.1987G>A p.A663T Missense 3/3 - 4
22-50617659-G-T c.1987G>T p.A663S Missense 3/3 - 1
22-50617664-C-A c.1992C>A p.T664= Synonymous 3/3 - 1
22-50617664-C-G c.1992C>G p.T664= Synonymous 3/3 - 1
22-50617664-C-T c.1992C>T p.T664= Synonymous 3/3 - 2
22-50617667-C-T c.1995C>T p.F665= Synonymous 3/3 - 2
22-50617675-C-T c.2003C>T p.P668L Missense 3/3 - 1
22-50617676-G-A c.2004G>A p.P668= Synonymous 3/3 - 1
22-50617676-G-C c.2004G>C p.P668= Synonymous 3/3 - 1
22-50617676-G-T c.2004G>T p.P668= Synonymous 3/3 - 1
22-50617682-G-A c.2010G>A p.T670= Synonymous 3/3 - 1
22-50617681-CG-C c.2011del p.V671Sfs*2 Frameshift 3/3 - 1
22-50617685-C-T c.2013C>T p.V671= Synonymous 3/3 - 1
22-50617686-G-A c.2014G>A p.V672M Missense 3/3 - 4
22-50617689-A-C c.2017A>C p.S673R Missense 3/3 - 1
22-50617691-T-A c.2019T>A p.S673R Missense 3/3 - 1
22-50617691-T-C c.2019T>C p.S673= Synonymous 3/3 - 1
22-50617691-T-G c.2019T>G p.S673R Missense 3/3 - 1
22-50617698-G-A c.2026G>A p.E676K Missense 3/3 - 1
22-50617726-C-T c.*20C>T - 3-UTRSNV 3/3 - 3
22-50617728-C-T c.*22C>T - 3-UTRSNV 3/3 - 1
22-50617862-C-T c.*156C>T - 3-UTRSNV 3/3 - 1
22-50617884-C-T c.*178C>T - 3-UTRSNV 3/3 - 5
22-50617968-T-C c.*262T>C - 3-UTRSNV 3/3 - 5
22-50618113-G-C c.*407G>C - 3-UTRSNV 3/3 - 1
22-50618278-A-G c.*572A>G - 3-UTRSNV 3/3 - 1
22-50618641-C-T c.*935C>T - 3-UTRSNV 3/3 - 1