GALR2

GALR2 galanin receptor 2

Annotation transcript: NM_003857.4

373 unique variant annotations were identified in 167 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
17-74070981-G-T c.17G>T p.C6F Missense 1/2 - 1
17-74070994-G-A c.30G>A p.G10= Synonymous 1/2 - 1
17-74071007-GC-TA c.43_44delinsTA p.A15* Nonsense 1/2 - 1
17-74071008-C-T c.44C>T p.A15V Missense 1/2 - 2
17-74071011-G-T c.47G>T p.G16V Missense 1/2 - 1
17-74071017-G-A c.53G>A p.G18E Missense 1/2 - 1
17-74071023-G-A c.59G>A p.G20D Missense 1/2 - 2
17-74071031-CC-TT c.67_68delinsTT p.P23F Missense 1/2 - 1
17-74071034-G-A c.70G>A p.E24K Missense 1/2 - 1
17-74071037-G-A c.73G>A p.A25T Missense 1/2 - 1
17-74071039-G-A c.75G>A p.A25= Synonymous 1/2 - 1
17-74071039-G-C c.75G>C p.A25= Synonymous 1/2 - 1
17-74071039-G-T c.75G>T p.A25= Synonymous 1/2 - 1
17-74071045-C-A c.81C>A p.I27= Synonymous 1/2 - 1
17-74071045-C-T c.81C>T p.I27= Synonymous 1/2 - 1
17-74071046-G-C c.82G>C p.V28L Missense 1/2 - 1
17-74071046-G-T c.82G>T p.V28L Missense 1/2 - 1
17-74071050-C-A c.86C>A p.P29H Missense 1/2 - 1
17-74071051-C-T c.87C>T p.P29= Synonymous 1/2 - 2
17-74071052-C-A c.88C>A p.L30M Missense 1/2 - 1
17-74071053-T-C c.89T>C p.L30P Missense 1/2 - 1
17-74071056-T-C c.92T>C p.L31P Missense 1/2 - 1
17-74071057-C-A c.93C>A p.L31= Synonymous 1/2 - 1
17-74071057-C-G c.93C>G p.L31= Synonymous 1/2 - 1
17-74071057-C-T c.93C>T p.L31= Synonymous 1/2 - 2
17-74071062-C-T c.98C>T p.A33V Missense 1/2 - 1
17-74071066-C-A c.102C>A p.L34= Synonymous 1/2 - 1
17-74071066-C-G c.102C>G p.L34= Synonymous 1/2 - 1
17-74071066-C-T c.102C>T p.L34= Synonymous 1/2 - 1
17-74071083-C-A c.119C>A p.T40N Missense 1/2 - 1
17-74071084-C-A c.120C>A p.T40= Synonymous 1/2 - 2
17-74071084-C-G c.120C>G p.T40= Synonymous 1/2 - 1
17-74071084-C-T c.120C>T p.T40= Synonymous 1/2 - 2
17-74071085-G-A c.121G>A p.V41M Missense 1/2 - 1
17-74071089-G-A c.125G>A p.G42D Missense 1/2 - 1
17-74071091-A-C c.127A>C p.N43H Missense 1/2 - 2
17-74071098-T-C c.134T>C p.L45P Missense 1/2 - 1
17-74071106-GCG-TAT c.142_144delinsTAT p.A48Y Missense 1/2 - 1
17-74071109-G-C c.145G>C p.V49L Missense 1/2 - 1
17-74071109-G-T c.145G>T p.V49L Missense 1/2 - 1
17-74071114-G-A c.150G>A p.L50= Synonymous 1/2 - 1
17-74071119-G-T c.155G>T p.R52L Missense 1/2 - 2
17-74071121-G-T c.157G>T p.G53C Missense 1/2 - 1
17-74071122-G-A c.158G>A p.G53D Missense 1/2 - 3
17-74071124-G-A c.160G>A p.G54S Missense 1/2 - 1
17-74071124-GGC-TGA c.160_162delinsTGA p.G54* Nonsense 1/2 - 1
17-74071127-C-T c.163C>T p.Q55* Nonsense 1/2 - 4
17-74071131-C-T c.167C>T p.A56V Missense 1/2 - 4
17-74071132-G-A c.168G>A p.A56= Synonymous 1/2 - 1
17-74071132-G-C c.168G>C p.A56= Synonymous 1/2 - 1
17-74071132-G-T c.168G>T p.A56= Synonymous 1/2 - 1
17-74071137-G-A c.173G>A p.S58N Missense 1/2 - 1
17-74071144-C-T c.180C>T p.T60= Synonymous 1/2 - 1
17-74071148-CT-TG c.184_185delinsTG p.L62W Missense 1/2 - 1
17-74071151-T-C c.187T>C p.F63L Missense 1/2 - 1
17-74071153-C-G c.189C>G p.F63L Missense 1/2 - 1
17-74071153-C-A c.189C>A p.F63L Missense 1/2 - 2
17-74071153-C-T c.189C>T p.F63= Synonymous 1/2 - 1
17-74071156-C-T c.192C>T p.I64= Synonymous 1/2 - 1
17-74071164-T-G c.200T>G p.L67R Missense 1/2 - 1
17-74071166-G-A c.202G>A p.G68S Missense 1/2 - 1
17-74071169-G-A c.205G>A p.V69M Missense 1/2 - 2
17-74071172-G-A c.208G>A p.A70T Missense 1/2 - 1
17-74071172-G-T c.208G>T p.A70S Missense 1/2 - 2
17-74071173-C-T c.209C>T p.A70V Missense 1/2 - 1
17-74071177-C-A c.213C>A p.D71E Missense 1/2 - 6
17-74071177-C-G c.213C>G p.D71E Missense 1/2 - 5
17-74071186-C-T c.222C>T p.F74= Synonymous 1/2 - 1
17-74071211-G-T c.247G>T p.A83S Missense 1/2 - 1
17-74071212-C-T c.248C>T p.A83V Missense 1/2 - 4
17-74071213-C-T c.249C>T p.A83= Synonymous 1/2 - 2
17-74071217-A-T c.253A>T p.I85F Missense 1/2 - 1
17-74071218-T-C c.254T>C p.I85T Missense 1/2 - 1
17-74071221-A-G c.257A>G p.Y86C Missense 1/2 - 6
17-74071225-C-T c.261C>T p.T87= Synonymous 1/2 - 2
17-74071242-T-C c.278T>C p.F93S Missense 1/2 - 1
17-74071243-C-T c.279C>T p.F93= Synonymous 1/2 - 1
17-74071245-G-A c.281G>A p.G94D Missense 1/2 - 1
17-74071246-C-A c.282C>A p.G94= Synonymous 1/2 - 1
17-74071254-T-C c.290T>C p.L97P Missense 1/2 - 1
17-74071264-G-A c.300G>A p.A100= Synonymous 1/2 - 2
17-74071264-G-C c.300G>C p.A100= Synonymous 1/2 - 1
17-74071264-G-T c.300G>T p.A100= Synonymous 1/2 - 1
17-74071267-G-T c.303G>T p.V101= Synonymous 1/2 - 1
17-74071268-CA-AT c.304_305delinsAT p.H102I Missense 1/2 - 1
17-74071274-C-T c.310C>T p.L104F Missense 1/2 - 4
17-74071276-C-A c.312C>A p.L104= Synonymous 1/2 - 1
17-74071276-C-G c.312C>G p.L104= Synonymous 1/2 - 1
17-74071276-C-T c.312C>T p.L104= Synonymous 1/2 - 1
17-74071277-A-G c.313A>G p.I105V Missense 1/2 - 1
17-74071287-C-G c.323C>G p.T108S Missense 1/2 - 1
17-74071294-C-G c.330C>G p.H110Q Missense 1/2 - 1
17-74071297-C-A c.333C>A p.A111= Synonymous 1/2 - 1
17-74071297-C-G c.333C>G p.A111= Synonymous 1/2 - 1
17-74071297-C-T c.333C>T p.A111= Synonymous 1/2 - 1
17-74071298-A-G c.334A>G p.S112G Missense 1/2 - 3
17-74071303-C-T c.339C>T p.S113= Synonymous 1/2 - 1
17-74071306-C-T c.342C>T p.F114= Synonymous 1/2 - 1
17-74071317-C-G c.353C>G p.A118G Missense 1/2 - 1
17-74071323-C-A c.359C>A p.S120Y Missense 1/2 - 3
17-74071332-G-A c.368G>A p.R123K Missense 1/2 - 1
17-74071332-G-C c.368G>C p.R123T Missense 1/2 - 1
17-74071667-G-T c.368+335G>T - IntronicSNV - 1/1 1
17-74072718-T-C c.370T>C p.Y124H Missense 2/2 - 1
17-74072727-A-T c.379A>T p.I127F Missense 2/2 - 1
17-74072730-C-T c.382C>T p.R128C Missense 2/2 - 1
17-74072733-T-C c.385T>C p.Y129H Missense 2/2 - 2
17-74072735-C-G c.387C>G p.Y129* Nonsense 2/2 - 1
17-74072749-G-A c.401G>A p.R134H Missense 2/2 - 1
17-74072750-C-A c.402C>A p.R134= Synonymous 2/2 - 2
17-74072750-C-G c.402C>G p.R134= Synonymous 2/2 - 1
17-74072750-C-T c.402C>T p.R134= Synonymous 2/2 - 1
17-74072757-C-T c.409C>T p.R137C Missense 2/2 - 2
17-74072758-G-A c.410G>A p.R137H Missense 2/2 - 1
17-74072759-C-T c.411C>T p.R137= Synonymous 2/2 - 1
17-74072761-C-T c.413C>T p.T138M Missense 2/2 - 3
17-74072762-G-A c.414G>A p.T138= Synonymous 2/2 - 2
17-74072762-G-C c.414G>C p.T138= Synonymous 2/2 - 1
17-74072762-G-T c.414G>T p.T138= Synonymous 2/2 - 1
17-74072766-CG-AA c.418_419delinsAA p.R140K Missense 2/2 - 1
17-74072781-G-A c.433G>A p.A145T Missense 2/2 - 1
17-74072784-A-G c.436A>G p.I146V Missense 2/2 - 1
17-74072787-G-T c.439G>T p.G147W Missense 2/2 - 1
17-74072797-G-A c.449G>A p.W150* Nonsense 2/2 - 1
17-74072802-GC-G c.454del p.L152Cfs*10 Frameshift 2/2 - 1
17-74072802-C-T c.454C>T p.L152= Synonymous 2/2 - 1
17-74072804-G-A c.456G>A p.L152= Synonymous 2/2 - 1
17-74072804-G-C c.456G>C p.L152= Synonymous 2/2 - 1
17-74072804-G-T c.456G>T p.L152= Synonymous 2/2 - 1
17-74072807-G-A c.459G>A p.S153= Synonymous 2/2 - 1
17-74072807-G-C c.459G>C p.S153= Synonymous 2/2 - 1
17-74072807-G-T c.459G>T p.S153= Synonymous 2/2 - 1
17-74072811-C-A c.463C>A p.L155I Missense 2/2 - 2
17-74072813-C-A c.465C>A p.L155= Synonymous 2/2 - 1
17-74072813-C-G c.465C>G p.L155= Synonymous 2/2 - 1
17-74072813-C-T c.465C>T p.L155= Synonymous 2/2 - 1
17-74072814-T-C c.466T>C p.F156L Missense 2/2 - 1
17-74072816-C-A c.468C>A p.F156L Missense 2/2 - 2
17-74072816-C-G c.468C>G p.F156L Missense 2/2 - 1
17-74072818-C-G c.470C>G p.S157C Missense 2/2 - 3
17-74072824-C-T c.476C>T p.P159L Missense 2/2 - 1
17-74072825-C-A c.477C>A p.P159= Synonymous 2/2 - 1
17-74072825-C-G c.477C>G p.P159= Synonymous 2/2 - 1
17-74072825-C-T c.477C>T p.P159= Synonymous 2/2 - 1
17-74072826-T-C c.478T>C p.Y160H Missense 2/2 - 2
17-74072830-T-G c.482T>G p.L161R Missense 2/2 - 1
17-74072834-C-G c.486C>G p.S162R Missense 2/2 - 1
17-74072836-A-C c.488A>C p.Y163S Missense 2/2 - 1
17-74072838-TA-GC c.490_491delinsGC p.Y164A Missense 2/2 - 1
17-74072842-G-A c.494G>A p.R165H Missense 2/2 - 2
17-74072842-G-C c.494G>C p.R165P Missense 2/2 - 1
17-74072848-C-A c.500C>A p.S167* Nonsense 2/2 - 2
17-74072849-G-A c.501G>A p.S167= Synonymous 2/2 - 2
17-74072855-G-A c.507G>A p.L169= Synonymous 2/2 - 1
17-74072856-GC-G c.510del p.N171Tfs*2 Frameshift 2/2 - 1
17-74072863-T-G c.515T>G p.L172R Missense 2/2 - 1
17-74072869-T-C c.521T>C p.V174A Missense 2/2 - 1
17-74072880-G-A c.532G>A p.A178T Missense 2/2 - 1
17-74072882-G-A c.534G>A p.A178= Synonymous 2/2 - 2
17-74072882-G-C c.534G>C p.A178= Synonymous 2/2 - 1
17-74072882-G-T c.534G>T p.A178= Synonymous 2/2 - 1
17-74072885-G-A c.537G>A p.W179* Nonsense 2/2 - 1
17-74072886-A-G c.538A>G p.S180G Missense 2/2 - 1
17-74072888-C-T c.540C>T p.S180= Synonymous 2/2 - 1
17-74072889-G-A c.541G>A p.A181T Missense 2/2 - 2
17-74072893-C-T c.545C>T p.P182L Missense 2/2 - 6
17-74072895-C-G c.547C>G p.R183G Missense 2/2 - 3
17-74072903-C-A c.555C>A p.R185= Synonymous 2/2 - 1
17-74072903-C-G c.555C>G p.R185= Synonymous 2/2 - 1
17-74072903-C-T c.555C>T p.R185= Synonymous 2/2 - 2
17-74072904-G-A c.556G>A p.A186T Missense 2/2 - 1
17-74072914-T-C c.566T>C p.I189T Missense 2/2 - 1
17-74072917-G-A c.569G>A p.C190Y Missense 2/2 - 1
17-74072920-C-A c.572C>A p.T191N Missense 2/2 - 1
17-74072923-T-G c.575T>G p.F192C Missense 2/2 - 1
17-74072932-G-A c.584G>A p.S195N Missense 2/2 - 4
17-74072931-A-C c.583A>C p.S195R Missense 2/2 - 1
17-74072933-C-A c.585C>A p.S195R Missense 2/2 - 1
17-74072933-C-G c.585C>G p.S195R Missense 2/2 - 1
17-74072944-C-T c.596C>T p.P199L Missense 2/2 - 1
17-74072947-T-C c.599T>C p.V200A Missense 2/2 - 1
17-74072948-G-A c.600G>A p.V200= Synonymous 2/2 - 1
17-74072948-G-C c.600G>C p.V200= Synonymous 2/2 - 1
17-74072948-G-T c.600G>T p.V200= Synonymous 2/2 - 1
17-74072951-G-A c.603G>A p.L201= Synonymous 2/2 - 2
17-74072957-C-A c.609C>A p.L203= Synonymous 2/2 - 1
17-74072957-C-G c.609C>G p.L203= Synonymous 2/2 - 1
17-74072957-C-T c.609C>T p.L203= Synonymous 2/2 - 1
17-74072958-G-A c.610G>A p.G204S Missense 2/2 - 1
17-74072969-C-T c.621C>T p.Y207= Synonymous 2/2 - 1
17-74072970-G-A c.622G>A p.A208T Missense 2/2 - 4
17-74072972-G-A c.624G>A p.A208= Synonymous 2/2 - 1
17-74072972-G-C c.624G>C p.A208= Synonymous 2/2 - 1
17-74072972-G-T c.624G>T p.A208= Synonymous 2/2 - 1
17-74072973-C-G c.625C>G p.R209G Missense 2/2 - 2
17-74072982-C-A c.634C>A p.R212S Missense 2/2 - 1
17-74072982-C-T c.634C>T p.R212C Missense 2/2 - 2
17-74072986-TACCTC-T c.638_642del p.Y213Lfs*171 Frameshift 2/2 - 1
17-74072987-C-A c.639C>A p.Y213* Nonsense 2/2 - 1
17-74072990-C-A c.642C>A p.L214= Synonymous 2/2 - 1
17-74072990-C-G c.642C>G p.L214= Synonymous 2/2 - 2
17-74072990-C-T c.642C>T p.L214= Synonymous 2/2 - 1
17-74072994-CGC-AAG c.646_648delinsAAG p.R216K Missense 2/2 - 1
17-74072994-C-T c.646C>T p.R216C Missense 2/2 - 1
17-74072995-G-A c.647G>A p.R216H Missense 2/2 - 3
17-74072995-GC-AA c.647_648delinsAA p.R216Q Missense 2/2 - 1
17-74072997-G-A c.649G>A p.A217T Missense 2/2 - 1
17-74073001-GTC-G c.653_654del p.V218Gfs*167 Frameshift 2/2 - 1
17-74073003-G-GGC c.655_656insGC p.D219Gfs*17 Frameshift 2/2 - 1
17-74073007-CG-C c.661del p.V221Wfs*14 Frameshift 2/2 - 1
17-74073010-T-A c.662T>A p.V221E Missense 2/2 - 2
17-74073012-G-C c.664G>C p.A222P Missense 2/2 - 2
17-74073013-C-T c.665C>T p.A222V Missense 2/2 - 5
17-74073019-G-C c.671G>C p.G224A Missense 2/2 - 2
17-74073020-C-CA c.672_673insA p.S225Ifs*161 Frameshift 2/2 - 1
17-74073021-T-C c.673T>C p.S225P Missense 2/2 - 2
17-74073021-TC-AG c.673_674delinsAG p.S225R Missense 2/2 - 1
17-74073022-C-T c.674C>T p.S225L Missense 2/2 - 2
17-74073024-G-A c.676G>A p.G226S Missense 2/2 - 1
17-74073027-TGC-T c.679_680del p.A227Pfs*158 Frameshift 2/2 - 1
17-74073029-C-CGA c.681_682insGA p.R228Dfs*8 Frameshift 2/2 - 1
17-74073031-G-A c.683G>A p.R228Q Missense 2/2 - 1
17-74073033-C-A c.685C>A p.R229S Missense 2/2 - 1
17-74073033-C-T c.685C>T p.R229C Missense 2/2 - 1
17-74073035-C-A c.687C>A p.R229= Synonymous 2/2 - 1
17-74073035-C-G c.687C>G p.R229= Synonymous 2/2 - 1
17-74073035-C-T c.687C>T p.R229= Synonymous 2/2 - 1
17-74073037-C-G c.689C>G p.A230G Missense 2/2 - 1
17-74073039-A-AGAGGT c.691_692insGAGGT p.K231Rfs*6 Frameshift 2/2 - 1
17-74073051-A-G c.703A>G p.T235A Missense 2/2 - 1
17-74073054-C-A c.706C>A p.R236S Missense 2/2 - 1
17-74073055-G-T c.707G>T p.R236L Missense 2/2 - 1
17-74073058-T-G c.710T>G p.M237R Missense 2/2 - 1
17-74073059-G-A c.711G>A p.M237I Missense 2/2 - 4
17-74073059-G-C c.711G>C p.M237I Missense 2/2 - 2
17-74073059-G-T c.711G>T p.M237I Missense 2/2 - 2
17-74073068-C-T c.720C>T p.I240= Synonymous 2/2 - 1
17-74073070-T-C c.722T>C p.V241A Missense 2/2 - 1
17-74073073-C-G c.725C>G p.A242G Missense 2/2 - 1
17-74073073-C-T c.725C>T p.A242V Missense 2/2 - 1
17-74073076-C-T c.728C>T p.A243V Missense 2/2 - 2
17-74073078-C-T c.730C>T p.L244F Missense 2/2 - 1
17-74073081-T-C c.733T>C p.F245L Missense 2/2 - 1
17-74073083-C-A c.735C>A p.F245L Missense 2/2 - 1
17-74073083-C-G c.735C>G p.F245L Missense 2/2 - 1
17-74073089-C-T c.741C>T p.L247= Synonymous 2/2 - 1
17-74073094-G-T c.746G>T p.W249L Missense 2/2 - 12
17-74073098-G-A c.750G>A p.M250I Missense 2/2 - 1
17-74073098-G-C c.750G>C p.M250I Missense 2/2 - 1
17-74073098-G-T c.750G>T p.M250I Missense 2/2 - 3
17-74073099-C-T c.751C>T p.P251S Missense 2/2 - 1
17-74073102-C-T c.754C>T p.H252Y Missense 2/2 - 1
17-74073107-C-T c.759C>T p.H253= Synonymous 2/2 - 1
17-74073108-G-A c.760G>A p.A254T Missense 2/2 - 2
17-74073109-C-T c.761C>T p.A254V Missense 2/2 - 3
17-74073113-C-T c.765C>T p.L255= Synonymous 2/2 - 1
17-74073114-A-G c.766A>G p.I256V Missense 2/2 - 3
17-74073116-C-A c.768C>A p.I256= Synonymous 2/2 - 1
17-74073116-CC-TT c.768_769delinsTT p.L257F Missense 2/2 - 1
17-74073116-C-T c.768C>T p.I256= Synonymous 2/2 - 1
17-74073117-C-T c.769C>T p.L257F Missense 2/2 - 1
17-74073122-C-T c.774C>T p.C258= Synonymous 2/2 - 1
17-74073123-G-A c.775G>A p.V259M Missense 2/2 - 1
17-74073129-T-C c.781T>C p.F261L Missense 2/2 - 1
17-74073131-C-A c.783C>A p.F261L Missense 2/2 - 1
17-74073131-C-G c.783C>G p.F261L Missense 2/2 - 1
17-74073142-C-T c.794C>T p.P265L Missense 2/2 - 1
17-74073146-C-A c.798C>A p.L266= Synonymous 2/2 - 1
17-74073146-C-G c.798C>G p.L266= Synonymous 2/2 - 1
17-74073146-C-T c.798C>T p.L266= Synonymous 2/2 - 1
17-74073150-C-A c.802C>A p.R268S Missense 2/2 - 1
17-74073151-G-C c.803G>C p.R268P Missense 2/2 - 1
17-74073151-G-T c.803G>T p.R268L Missense 2/2 - 3
17-74073152-C-A c.804C>A p.R268= Synonymous 2/2 - 1
17-74073152-C-G c.804C>G p.R268= Synonymous 2/2 - 1
17-74073152-C-T c.804C>T p.R268= Synonymous 2/2 - 1
17-74073157-C-T c.809C>T p.T270I Missense 2/2 - 1
17-74073157-CT-TG c.809_810delinsTG p.T270M Missense 2/2 - 1
17-74073159-T-C c.811T>C p.Y271H Missense 2/2 - 1
17-74073162-G-T c.814G>T p.A272S Missense 2/2 - 1
17-74073163-C-T c.815C>T p.A272V Missense 2/2 - 1
17-74073164-G-A c.816G>A p.A272= Synonymous 2/2 - 2
17-74073164-G-C c.816G>C p.A272= Synonymous 2/2 - 1
17-74073164-G-T c.816G>T p.A272= Synonymous 2/2 - 1
17-74073168-C-T c.820C>T p.R274C Missense 2/2 - 3
17-74073169-G-A c.821G>A p.R274H Missense 2/2 - 7
17-74073169-G-T c.821G>T p.R274L Missense 2/2 - 1
17-74073173-C-A c.825C>A p.I275= Synonymous 2/2 - 1
17-74073173-C-T c.825C>T p.I275= Synonymous 2/2 - 1
17-74073178-C-G c.830C>G p.S277W Missense 2/2 - 1
17-74073181-A-T c.833A>T p.H278L Missense 2/2 - 2
17-74073183-C-A c.835C>A p.L279M Missense 2/2 - 1
17-74073192-T-C c.844T>C p.Y282H Missense 2/2 - 1
17-74073206-C-A c.858C>A p.C286* Nonsense 2/2 - 4
17-74073206-C-T c.858C>T p.C286= Synonymous 2/2 - 1
17-74073207-G-A c.859G>A p.V287I Missense 2/2 - 1
17-74073225-G-A c.877G>A p.A293T Missense 2/2 - 1
17-74073226-C-T c.878C>T p.A293V Missense 2/2 - 4
17-74073246-C-T c.898C>T p.R300C Missense 2/2 - 2
17-74073247-G-A c.899G>A p.R300H Missense 2/2 - 1
17-74073247-G-C c.899G>C p.R300P Missense 2/2 - 1
17-74073256-T-C c.908T>C p.F303S Missense 2/2 - 1
17-74073259-G-A c.911G>A p.R304H Missense 2/2 - 1
17-74073263-G-A c.915G>A p.T305= Synonymous 2/2 - 2
17-74073266-C-G c.918C>G p.I306M Missense 2/2 - 1
17-74073267-T-C c.919T>C p.C307R Missense 2/2 - 1
17-74073270-G-A c.922G>A p.A308T Missense 2/2 - 1
17-74073277-T-C c.929T>C p.L310P Missense 2/2 - 1
17-74073279-C-T c.931C>T p.L311= Synonymous 2/2 - 1
17-74073281-G-A c.933G>A p.L311= Synonymous 2/2 - 1
17-74073281-G-C c.933G>C p.L311= Synonymous 2/2 - 1
17-74073281-G-T c.933G>T p.L311= Synonymous 2/2 - 1
17-74073285-C-T c.937C>T p.R313C Missense 2/2 - 1
17-74073290-C-A c.942C>A p.A314= Synonymous 2/2 - 1
17-74073290-C-G c.942C>G p.A314= Synonymous 2/2 - 1
17-74073290-C-T c.942C>T p.A314= Synonymous 2/2 - 1
17-74073295-GC-AG c.947_948delinsAG p.G316E Missense 2/2 - 1
17-74073297-C-G c.949C>G p.R317G Missense 2/2 - 4
17-74073297-C-T c.949C>T p.R317* Nonsense 2/2 - 4
17-74073304-C-T c.956C>T p.S319L Missense 2/2 - 3
17-74073306-G-C c.958G>C p.G320R Missense 2/2 - 1
17-74073313-T-A c.965T>A p.V322E Missense 2/2 - 1
17-74073318-G-A c.970G>A p.A324T Missense 2/2 - 1
17-74073319-C-T c.971C>T p.A324V Missense 2/2 - 1
17-74073323-C-T c.975C>T p.A325= Synonymous 2/2 - 1
17-74073324-G-A c.976G>A p.A326T Missense 2/2 - 2
17-74073324-G-T c.976G>T p.A326S Missense 2/2 - 1
17-74073334-C-T c.986C>T p.T329I Missense 2/2 - 1
17-74073339-AG-TT c.991_992delinsTT p.S331F Missense 2/2 - 1
17-74073347-C-A c.999C>A p.S333R Missense 2/2 - 1
17-74073351-T-C c.1003T>C p.L335= Synonymous 2/2 - 1
17-74073368-C-T c.1020C>T p.S340= Synonymous 2/2 - 2
17-74073369-G-A c.1021G>A p.D341N Missense 2/2 - 2
17-74073378-C-A c.1030C>A p.H344N Missense 2/2 - 1
17-74073381-A-G c.1033A>G p.M345V Missense 2/2 - 3
17-74073382-T-A c.1034T>A p.M345K Missense 2/2 - 1
17-74073384-A-C c.1036A>C p.S346R Missense 2/2 - 2
17-74073386-C-A c.1038C>A p.S346R Missense 2/2 - 4
17-74073386-C-G c.1038C>G p.S346R Missense 2/2 - 4
17-74073394-C-T c.1046C>T p.A349V Missense 2/2 - 1
17-74073393-GCGGGGGCCCTTCGTCCCTGCCCCGGCGCTT-G c.1047_1076del p.G350_S359del InFrameDeletion 2/2 - 1
17-74073400-C-A c.1052C>A p.A351D Missense 2/2 - 1
17-74073402-C-A c.1054C>A p.L352I Missense 2/2 - 1
17-74073403-T-G c.1055T>G p.L352R Missense 2/2 - 1
17-74073406-G-A c.1058G>A p.R353H Missense 2/2 - 2
17-74073408-C-T c.1060C>T p.P354S Missense 2/2 - 1
17-74073409-C-T c.1061C>T p.P354L Missense 2/2 - 1
17-74073416-C-A c.1068C>A p.P356= Synonymous 2/2 - 1
17-74073416-C-T c.1068C>T p.P356= Synonymous 2/2 - 1
17-74073420-G-C c.1072G>C p.A358P Missense 2/2 - 1
17-74073423-T-G c.1075T>G p.S359A Missense 2/2 - 2
17-74073428-G-A c.1080G>A p.Q360= Synonymous 2/2 - 1
17-74073436-T-C c.1088T>C p.I363T Missense 2/2 - 1
17-74073438-C-G c.1090C>G p.L364V Missense 2/2 - 1
17-74073440-C-A c.1092C>A p.L364= Synonymous 2/2 - 1
17-74073440-C-G c.1092C>G p.L364= Synonymous 2/2 - 2
17-74073440-C-T c.1092C>T p.L364= Synonymous 2/2 - 3
17-74073441-G-A c.1093G>A p.E365K Missense 2/2 - 2
17-74073444-CCCTGTCCTGG-C c.1099_1108del p.C367Rfs*13 Frameshift 2/2 - 1
17-74073448-G-A c.1100G>A p.C367Y Missense 2/2 - 1
17-74073450-C-T c.1102C>T p.P368S Missense 2/2 - 1
17-74073455-GCCCGTCCTGGC-G c.1107_1117del p.P370Gfs*12 Frameshift 2/2 - 2
17-74073447-TGTCCTGGCCC-T c.1108_1117del p.P370Rfs*10 Frameshift 2/2 - 3
17-74073460-C-T c.1112C>T p.S371F Missense 2/2 - 1
17-74073471-C-A c.1123C>A p.P375T Missense 2/2 - 1
17-74073475-A-T c.1127A>T p.K376M Missense 2/2 - 1
17-74073477-G-T c.1129G>T p.A377S Missense 2/2 - 1
17-74073483-G-T c.1135G>T p.D379Y Missense 2/2 - 1
17-74073497-G-A c.1149G>A p.T383= Synonymous 2/2 - 1
17-74073498-G-A c.1150G>A p.V384I Missense 2/2 - 1
17-74073506-G-A c.1158G>A p.V386= Synonymous 2/2 - 1
17-74073506-G-C c.1158G>C p.V386= Synonymous 2/2 - 1
17-74073506-G-T c.1158G>T p.V386= Synonymous 2/2 - 1