AGAP6

AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

Annotation transcript: NM_001077665.3

360 unique variant annotations were identified in 218 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
10-51748493-C-T c.18C>T p.T6= Synonymous 1/8 - 1
10-51748501-T-A c.26T>A p.V9E Missense 1/8 - 1
10-51748507-C-G c.32C>G p.P11R Missense 1/8 - 1
10-51748511-C-T c.36C>T p.S12= Synonymous 1/8 - 1
10-51748512-G-A c.37G>A p.V13I Missense 1/8 - 2
10-51748515-A-G c.40A>G p.S14G Missense 1/8 - 1
10-51748521-G-A c.46G>A p.E16K Missense 1/8 - 1
10-51748523-G-GT c.51dup p.D18* Nonsense 1/8 - 1
10-51748529-C-T c.54C>T p.D18= Synonymous 1/8 - 1
10-51748528-A-AC c.55dup p.Q19Pfs*10 Frameshift 1/8 - 16
10-51748531-A-C c.56A>C p.Q19P Missense 1/8 - 1
10-51748543-C-T c.68C>T p.S23L Missense 1/8 - 1
10-51748544-G-A c.69G>A p.S23= Synonymous 1/8 - 1
10-51748544-G-C c.69G>C p.S23= Synonymous 1/8 - 1
10-51748544-G-T c.69G>T p.S23= Synonymous 1/8 - 1
10-51748552-C-T c.77C>T p.P26L Missense 1/8 - 3
10-51748557-G-A c.82G>A p.E28K Missense 1/8 - 3
10-51748560-TC-CT c.85_86delinsCT p.S29L Missense 1/8 - 1
10-51748567-C-T c.92C>T p.T31I Missense 1/8 - 2
10-51748579-G-A c.104G>A p.G35E Missense 1/8 - 1
10-51748573-AGGCAGGAGCTAGGGACAGGAT-A c.108_128del p.R37_A43del InFrameDeletion 1/8 - 1
10-51748584-A-G c.109A>G p.R37G Missense 1/8 - 20
10-51748586-G-A c.111G>A p.R37= Synonymous 1/8 - 1
10-51748592-G-T c.117G>T p.R39S Missense 1/8 - 1
10-51748596-G-A c.121G>A p.A41T Missense 1/8 - 1
10-51748601-A-T c.126A>T p.G42= Synonymous 1/8 - 1
10-51748612-C-T c.137C>T p.A46V Missense 1/8 - 1
10-51748614-G-C c.139G>C p.A47P Missense 1/8 - 2
10-51748615-C-A c.140C>A p.A47D Missense 1/8 - 1
10-51748622-A-C c.147A>C p.V49= Synonymous 1/8 - 2
10-51748622-A-G c.147A>G p.V49= Synonymous 1/8 - 3
10-51748622-A-T c.147A>T p.V49= Synonymous 1/8 - 2
10-51748623-C-T c.148C>T p.Q50* Nonsense 1/8 - 1
10-51748629-GCT-CAA c.154_156delinsCAA p.A52Q Missense 1/8 - 1
10-51748629-G-T c.154G>T p.A52S Missense 1/8 - 1
10-51748630-C-T c.155C>T p.A52V Missense 1/8 - 2
10-51748632-G-T c.157G>T p.E53* Nonsense 1/8 - 1
10-51748645-A-G c.170A>G p.E57G Missense 1/8 - 1
10-51748659-C-T c.184C>T p.L62F Missense 1/8 - 3
10-51748662-C-T c.187C>T p.H63Y Missense 1/8 - 1
10-51748663-A-G c.188A>G p.H63R Missense 1/8 - 1
10-51748661-CCA-C c.189_190del p.M64Afs*5 Frameshift 1/8 - 1
10-51748668-C-G c.193C>G p.H65D Missense 1/8 - 1
10-51748674-G-A c.199G>A p.V67I Missense 1/8 - 1
10-51748678-G-A c.203G>A p.R68H Missense 1/8 - 1
10-51748680-G-T c.205G>T p.D69Y Missense 1/8 - 1
10-51748681-AC-A c.208del p.R70Gfs*53 Frameshift 1/8 - 1
10-51748683-CG-A c.208_209delinsA p.E71Rfs*52 Frameshift 1/8 - 1
10-51748683-CGG-TGT c.208_210delinsTGT p.R70C Missense 1/8 - 1
10-51748683-C-T c.208C>T p.R70W Missense 1/8 - 1
10-51748684-G-A c.209G>A p.R70Q Missense 1/8 - 25
10-51748685-G-GT c.210_211insT p.E71* Nonsense 1/8 - 1
10-51748683-CG-C c.211del p.E71Rfs*52 Frameshift 1/8 - 1
10-51748695-G-C c.220G>C p.E74Q Missense 1/8 - 1
10-51749068-C-A c.224C>A p.A75D Missense 2/8 - 1
10-51749078-T-G c.234T>G p.F78L Missense 2/8 - 1
10-51749089-C-G c.245C>G p.A82G Missense 2/8 - 1
10-51749089-C-T c.245C>T p.A82V Missense 2/8 - 1
10-51749095-C-T c.251C>T p.P84L Missense 2/8 - 1
10-51749100-T-G c.256T>G p.S86A Missense 2/8 - 3
10-51749101-C-A c.257C>A p.S86* UnclassifiedSNV 2/8 - 1
10-51749115-C-T c.271C>T p.Q91* Nonsense 2/8 - 1
10-51749117-G-A c.273G>A p.Q91= Synonymous 2/8 - 1
10-51749118-AG-CA c.274_275delinsCA p.R92Q Missense 2/8 - 1
10-51749119-G-A c.275G>A p.R92K Missense 2/8 - 1
10-51749120-G-T c.276G>T p.R92S Missense 2/8 - 1
10-51749126-T-A c.282T>A p.S94= Synonymous 2/8 - 1
10-51749126-T-C c.282T>C p.S94= Synonymous 2/8 - 1
10-51749126-T-G c.282T>G p.S94= Synonymous 2/8 - 1
10-51749133-G-A c.289G>A p.E97K Missense 2/8 - 1
10-51749136-G-C c.292G>C p.A98P Missense 2/8 - 1
10-51749143-C-T c.292+7C>T - IntronicSNV - 2/7 1
10-51750011-C-T c.292+875C>T - IntronicSNV - 2/7 1
10-51751436-C-A c.293C>A p.A98D Missense 3/8 - 1
10-51751441-G-C c.298G>C p.E100Q Missense 3/8 - 1
10-51751453-TC-AA c.310_311delinsAA p.S104N Missense 3/8 - 1
10-51751453-TC-AT c.310_311delinsAT p.S104I Missense 3/8 - 2
10-51751456-G-A c.313G>A p.A105T Missense 3/8 - 1
10-51751457-C-T c.314C>T p.A105V Missense 3/8 - 2
10-51751462-C-T c.319C>T p.P107S Missense 3/8 - 1
10-51751465-G-A c.322G>A p.E108K Missense 3/8 - 1
10-51751468-G-T c.325G>T p.A109S Missense 3/8 - 1
10-51751477-A-G c.334A>G p.I112V Missense 3/8 - 1
10-51751486-A-G c.343A>G p.R115G Missense 3/8 - 1
10-51751488-G-A c.345G>A p.R115= Synonymous 3/8 - 1
10-51751506-T-G c.361+2T>G - IntronicSNV - 3/7 1
10-51754164-T-G c.371T>G p.I124R Missense 4/8 - 1
10-51754173-G-A c.380G>A p.S127N Missense 4/8 - 2
10-51754173-G-T c.380G>T p.S127I Missense 4/8 - 5
10-51754187-C-G c.394C>G p.H132D Missense 4/8 - 1
10-51754209-C-G c.396+20C>G - IntronicSNV - 4/7 3
10-51754222-T-C c.396+33T>C - IntronicSNV - 4/7 1
10-51754268-T-C c.396+79T>C - IntronicSNV - 4/7 2
10-51761765-G-A c.406G>A p.V136M Missense 5/8 - 1
10-51761769-G-A c.410G>A p.R137H Missense 5/8 - 2
10-51761785-C-T c.426C>T p.Y142= Synonymous 5/8 - 1
10-51761786-AG-TA c.427_428delinsTA p.S143Y Missense 5/8 - 1
10-51761786-AG-TT c.427_428delinsTT p.S143F Missense 5/8 - 1
10-51761796-C-T c.437C>T p.S146L Missense 5/8 - 4
10-51761820-C-T c.461C>T p.T154I Missense 5/8 - 1
10-51761837-C-T c.478C>T p.L160F Missense 5/8 - 1
10-51761843-A-G c.484A>G p.M162V Missense 5/8 - 1
10-51761844-T-C c.485T>C p.M162T Missense 5/8 - 1
10-51761849-A-G c.490A>G p.I164V Missense 5/8 - 1
10-51761856-C-T c.497C>T p.S166F Missense 5/8 - 1
10-51761857-G-A c.497+1G>A - IntronicSNV - 5/7 1
10-51762044-G-A c.497+188G>A - IntronicSNV - 5/7 1
10-51764466-T-A c.519T>A p.H173Q Missense 6/8 - 1
10-51764479-AG-CA c.532_533delinsCA p.R178Q Missense 6/8 - 1
10-51767793-A-AT c.543dup p.R182* Nonsense 7/8 - 1
10-51767795-AG-CA c.544_545delinsCA p.R182Q Missense 7/8 - 1
10-51767795-A-T c.544A>T p.R182* Nonsense 7/8 - 1
10-51767798-A-T c.547A>T p.T183S Missense 7/8 - 3
10-51767799-C-G c.548C>G p.T183S Missense 7/8 - 2
10-51767825-C-T c.574C>T p.H192Y Missense 7/8 - 1
10-51767836-G-A c.585G>A p.A195= Synonymous 7/8 - 1
10-51767836-G-C c.585G>C p.A195= Synonymous 7/8 - 1
10-51767836-G-T c.585G>T p.A195= Synonymous 7/8 - 1
10-51768487-T-A c.602T>A p.I201N Missense 8/8 - 1
10-51768492-A-G c.607A>G p.K203E Missense 8/8 - 1
10-51768503-T-A c.618T>A p.N206K Missense 8/8 - 1
10-51768503-T-G c.618T>G p.N206K Missense 8/8 - 1
10-51768504-G-A c.619G>A p.G207R Missense 8/8 - 1
10-51768543-T-C c.658T>C p.S220P Missense 8/8 - 3
10-51768544-C-T c.659C>T p.S220L Missense 8/8 - 1
10-51768551-C-A c.666C>A p.P222= Synonymous 8/8 - 1
10-51768551-C-G c.666C>G p.P222= Synonymous 8/8 - 1
10-51768551-C-T c.666C>T p.P222= Synonymous 8/8 - 1
10-51768552-A-G c.667A>G p.S223G Missense 8/8 - 1
10-51768553-G-A c.668G>A p.S223N Missense 8/8 - 2
10-51768553-G-C c.668G>C p.S223T Missense 8/8 - 1
10-51768562-A-G c.677A>G p.Q226R Missense 8/8 - 1
10-51768566-G-C c.681G>C p.E227D Missense 8/8 - 1
10-51768566-G-T c.681G>T p.E227D Missense 8/8 - 1
10-51768571-C-T c.686C>T p.P229L Missense 8/8 - 1
10-51768583-T-A c.698T>A p.V233D Missense 8/8 - 1
10-51768591-A-G c.706A>G p.T236A Missense 8/8 - 1
10-51768597-A-T c.712A>T p.N238Y Missense 8/8 - 1
10-51768594-GCCAACACAC-G c.713_721del p.N238_P240del InFrameDeletion 8/8 - 1
10-51768599-C-A c.714C>A p.N238K Missense 8/8 - 1
10-51768602-A-C c.717A>C p.T239= Synonymous 8/8 - 2
10-51768602-A-G c.717A>G p.T239= Synonymous 8/8 - 2
10-51768602-A-T c.717A>T p.T239= Synonymous 8/8 - 2
10-51768607-C-T c.722C>T p.T241M Missense 8/8 - 1
10-51768608-G-C c.723G>C p.T241= Synonymous 8/8 - 2
10-51768611-C-A c.726C>A p.P242= Synonymous 8/8 - 1
10-51768611-C-G c.726C>G p.P242= Synonymous 8/8 - 1
10-51768611-C-T c.726C>T p.P242= Synonymous 8/8 - 2
10-51768621-C-T c.736C>T p.R246W Missense 8/8 - 1
10-51768629-G-T c.744G>T p.M248I Missense 8/8 - 1
10-51768630-CGC-AAG c.745_747delinsAAG p.R249K Missense 8/8 - 1
10-51768630-C-T c.745C>T p.R249C Missense 8/8 - 1
10-51768631-G-A c.746G>A p.R249H Missense 8/8 - 3
10-51768634-G-A c.749G>A p.W250* Nonsense 8/8 - 1
10-51768635-G-A c.750G>A p.W250* Nonsense 8/8 - 1
10-51768653-T-G c.768T>G p.S256= Synonymous 8/8 - 1
10-51768660-G-T c.775G>T p.G259W Missense 8/8 - 2
10-51768661-G-A c.776G>A p.G259E Missense 8/8 - 2
10-51768662-G-T c.777G>T p.G259= Synonymous 8/8 - 1
10-51768671-A-AT c.786_787insT p.D263* Nonsense 8/8 - 1
10-51768674-C-CT c.789_790insT p.K264* Nonsense 8/8 - 1
10-51768675-A-T c.790A>T p.K264* Nonsense 8/8 - 1
10-51768674-CAA-C c.791_792del p.K264Rfs*10 Frameshift 8/8 - 13
10-51768677-A-G c.792A>G p.K264= Synonymous 8/8 - 1
10-51768681-AG-CA c.796_797delinsCA p.R266Q Missense 8/8 - 1
10-51768689-C-G c.804C>G p.A268= Synonymous 8/8 - 1
10-51768691-C-T c.806C>T p.P269L Missense 8/8 - 2
10-51768699-C-T c.814C>T p.H272Y Missense 8/8 - 2
10-51768703-C-T c.818C>T p.A273V Missense 8/8 - 2
10-51768705-G-A c.820G>A p.D274N Missense 8/8 - 1
10-51768714-G-T c.829G>T p.G277W Missense 8/8 - 1
10-51768715-G-T c.830G>T p.G277V Missense 8/8 - 1
10-51768719-C-T c.834C>T p.S278= Synonymous 8/8 - 1
10-51768720-G-A c.835G>A p.G279S Missense 8/8 - 1
10-51768720-G-T c.835G>T p.G279C Missense 8/8 - 1
10-51768722-T-C c.837T>C p.G279= Synonymous 8/8 - 2
10-51768723-AGA-CAT c.838_840delinsCAT p.R280H Missense 8/8 - 1
10-51768724-G-C c.839G>C p.R280T Missense 8/8 - 1
10-51768726-G-T c.841G>T p.A281S Missense 8/8 - 1
10-51768746-C-A c.861C>A p.G287= Synonymous 8/8 - 1
10-51768746-C-G c.861C>G p.G287= Synonymous 8/8 - 1
10-51768746-C-T c.861C>T p.G287= Synonymous 8/8 - 1
10-51768769-A-G c.884A>G p.K295R Missense 8/8 - 1
10-51768776-G-A c.891G>A p.L297= Synonymous 8/8 - 1
10-51768792-A-G c.907A>G p.K303E Missense 8/8 - 1
10-51768803-C-T c.918C>T p.T306= Synonymous 8/8 - 1
10-51768819-A-G c.934A>G p.M312V Missense 8/8 - 1
10-51768861-A-G c.976A>G p.I326V Missense 8/8 - 1
10-51768865-A-G c.980A>G p.H327R Missense 8/8 - 1
10-51768895-C-T c.1010C>T p.T337I Missense 8/8 - 1
10-51768904-T-C c.1019T>C p.V340A Missense 8/8 - 1
10-51768917-G-A c.1032G>A p.W344* Nonsense 8/8 - 1
10-51768924-C-G c.1039C>G p.L347V Missense 8/8 - 1
10-51768926-A-G c.1041A>G p.L347= Synonymous 8/8 - 1
10-51768934-C-T c.1049C>T p.S350L Missense 8/8 - 2
10-51768937-C-A c.1052C>A p.A351D Missense 8/8 - 1
10-51768937-C-T c.1052C>T p.A351V Missense 8/8 - 1
10-51768942-A-G c.1057A>G p.T353A Missense 8/8 - 1
10-51768945-C-T c.1060C>T p.P354S Missense 8/8 - 2
10-51768950-C-G c.1065C>G p.I355M Missense 8/8 - 2
10-51768952-C-T c.1067C>T p.S356F Missense 8/8 - 1
10-51768954-AG-TT c.1069_1070delinsTT p.S357F Missense 8/8 - 2
10-51768963-AG-GC c.1078_1079delinsGC p.S360A Missense 8/8 - 1
10-51768964-G-C c.1079G>C p.S360T Missense 8/8 - 1
10-51768970-G-A c.1085G>A p.G362D Missense 8/8 - 6
10-51768976-C-A c.1091C>A p.S364Y Missense 8/8 - 1
10-51768993-G-A c.1108G>A p.G370R Missense 8/8 - 1
10-51769038-A-C c.1153A>C p.T385P Missense 8/8 - 1
10-51769045-C-A c.1160C>A p.P387H Missense 8/8 - 1
10-51769057-C-T c.1172C>T p.P391L Missense 8/8 - 1
10-51769063-C-T c.1178C>T p.P393L Missense 8/8 - 2
10-51769058-G-GC c.1179dup p.S394Lfs*5 Frameshift 8/8 - 1
10-51769064-C-A c.1179C>A p.P393= Synonymous 8/8 - 1
10-51769064-C-G c.1179C>G p.P393= Synonymous 8/8 - 1
10-51769064-C-T c.1179C>T p.P393= Synonymous 8/8 - 1
10-51769078-A-C c.1193A>C p.N398T Missense 8/8 - 1
10-51769133-C-G c.1248C>G p.A416= Synonymous 8/8 - 1
10-51769135-C-A c.1250C>A p.T417N Missense 8/8 - 1
10-51769137-GGC-TGG c.1252_1254delinsTGG p.G418W Missense 8/8 - 1
10-51769144-C-T c.1259C>T p.T420M Missense 8/8 - 1
10-51769163-G-A c.1278G>A p.T426= Synonymous 8/8 - 1
10-51769166-G-A c.1281G>A p.T427= Synonymous 8/8 - 1
10-51769168-A-G c.1283A>G p.Y428C Missense 8/8 - 1
10-51769195-C-A c.1310C>A p.A437D Missense 8/8 - 1
10-51769207-A-G c.1322A>G p.Q441R Missense 8/8 - 1
10-51769212-C-G c.1327C>G p.L443V Missense 8/8 - 5
10-51769215-G-T c.1330G>T p.A444S Missense 8/8 - 1
10-51769216-C-A c.1331C>A p.A444D Missense 8/8 - 1
10-51769221-C-T c.1336C>T p.L446= Synonymous 8/8 - 1
10-51769223-G-A c.1338G>A p.L446= Synonymous 8/8 - 1
10-51769222-TGCAGTCATGCGAGA-T c.1343_1356del p.S448* Frameshift 8/8 - 2
10-51769233-G-A c.1348G>A p.E450K Missense 8/8 - 1
10-51769246-G-T c.1361G>T p.S454I Missense 8/8 - 1
10-51769252-C-T c.1367C>T p.S456F Missense 8/8 - 1
10-51769256-G-T c.1371G>T p.Q457H Missense 8/8 - 1
10-51769259-G-A c.1374G>A p.L458= Synonymous 8/8 - 1
10-51769263-AG-CT c.1378_1379inv p.S460L Missense 8/8 - 1
10-51769272-G-A c.1387G>A p.E463K Missense 8/8 - 1
10-51769272-G-C c.1387G>C p.E463Q Missense 8/8 - 1
10-51769284-C-T c.1399C>T p.L467= Synonymous 8/8 - 1
10-51769285-T-G c.1400T>G p.L467R Missense 8/8 - 1
10-51769291-C-T c.1406C>T p.S469L Missense 8/8 - 1
10-51769305-C-A c.1420C>A p.R474S Missense 8/8 - 1
10-51769306-G-T c.1421G>T p.R474L Missense 8/8 - 1
10-51769323-G-A c.1438G>A p.V480M Missense 8/8 - 2
10-51769326-G-A c.1441G>A p.D481N Missense 8/8 - 1
10-51769332-G-C c.1447G>C p.E483Q Missense 8/8 - 1
10-51769334-G-C c.1449G>C p.E483D Missense 8/8 - 1
10-51769355-C-T c.1470C>T p.A490= Synonymous 8/8 - 1
10-51769357-G-A c.1472G>A p.S491N Missense 8/8 - 1
10-51769364-C-A c.1479C>A p.N493K Missense 8/8 - 5
10-51769364-C-G c.1479C>G p.N493K Missense 8/8 - 7
10-51769367-G-C c.1482G>C p.L494F Missense 8/8 - 1
10-51769367-G-T c.1482G>T p.L494F Missense 8/8 - 1
10-51769377-A-G c.1492A>G p.M498V Missense 8/8 - 1
10-51769378-T-C c.1493T>C p.M498T Missense 8/8 - 1
10-51769386-G-C c.1501G>C p.E501Q Missense 8/8 - 2
10-51769394-A-T c.1509A>T p.S503= Synonymous 8/8 - 1
10-51769395-G-A c.1510G>A p.G504S Missense 8/8 - 1
10-51769398-A-G c.1513A>G p.I505V Missense 8/8 - 1
10-51769400-C-T c.1515C>T p.I505= Synonymous 8/8 - 2
10-51769401-C-T c.1516C>T p.H506Y Missense 8/8 - 1
10-51769403-C-T c.1518C>T p.H506= Synonymous 8/8 - 1
10-51769404-C-A c.1519C>A p.R507S Missense 8/8 - 1
10-51769405-G-A c.1520G>A p.R507H Missense 8/8 - 2
10-51769405-G-T c.1520G>T p.R507L Missense 8/8 - 1
10-51769408-G-C c.1523G>C p.S508T Missense 8/8 - 4
10-51769417-C-T c.1532C>T p.P511L Missense 8/8 - 1
10-51769426-C-T c.1541C>T p.S514F Missense 8/8 - 2
10-51769427-C-A c.1542C>A p.S514= Synonymous 8/8 - 1
10-51769427-C-G c.1542C>G p.S514= Synonymous 8/8 - 1
10-51769427-C-T c.1542C>T p.S514= Synonymous 8/8 - 1
10-51769428-C-A c.1543C>A p.R515S Missense 8/8 - 1
10-51769428-C-T c.1543C>T p.R515C Missense 8/8 - 6
10-51769431-G-C c.1546G>C p.V516L Missense 8/8 - 1
10-51769434-C-A c.1549C>A p.R517= Synonymous 8/8 - 1
10-51769434-C-T c.1549C>T p.R517* Nonsense 8/8 - 1
10-51769436-A-C c.1551A>C p.R517= Synonymous 8/8 - 1
10-51769436-A-G c.1551A>G p.R517= Synonymous 8/8 - 1
10-51769436-A-T c.1551A>T p.R517= Synonymous 8/8 - 1
10-51769437-T-C c.1552T>C p.S518P Missense 8/8 - 1
10-51769440-C-T c.1555C>T p.L519= Synonymous 8/8 - 1
10-51769442-G-A c.1557G>A p.L519= Synonymous 8/8 - 1
10-51769442-G-C c.1557G>C p.L519= Synonymous 8/8 - 1
10-51769442-G-T c.1557G>T p.L519= Synonymous 8/8 - 1
10-51769449-G-A c.1564G>A p.D522N Missense 8/8 - 2
10-51769449-G-C c.1564G>C p.D522H Missense 8/8 - 1
10-51769459-C-T c.1574C>T p.P525L Missense 8/8 - 3
10-51769464-G-A c.1579G>A p.E527K Missense 8/8 - 5
10-51769475-G-A c.1590G>A p.K530= Synonymous 8/8 - 1
10-51769488-A-C c.1603A>C p.I535L Missense 8/8 - 2
10-51769497-G-A c.1612G>A p.D538N Missense 8/8 - 2
10-51769499-C-T c.1614C>T p.D538= Synonymous 8/8 - 1
10-51769503-G-C c.1618G>C p.A540P Missense 8/8 - 1
10-51769506-A-G c.1621A>G p.N541D Missense 8/8 - 1
10-51769510-G-A c.1625G>A p.S542N Missense 8/8 - 1
10-51769514-C-T c.1629C>T p.I543= Synonymous 8/8 - 1
10-51769521-G-A c.1636G>A p.G546R Missense 8/8 - 1
10-51769521-G-C c.1636G>C p.G546R Missense 8/8 - 1
10-51769522-G-A c.1637G>A p.G546E Missense 8/8 - 1
10-51769524-AG-CT c.1639_1640inv p.S547L Missense 8/8 - 1
10-51769530-C-G c.1645C>G p.Q549E Missense 8/8 - 1
10-51769532-G-T c.1647G>T p.Q549H Missense 8/8 - 1
10-51769545-CC-TT c.1660_1661delinsTT p.P554F Missense 8/8 - 1
10-51769545-C-T c.1660C>T p.P554S Missense 8/8 - 1
10-51769553-A-C c.1668A>C p.E556D Missense 8/8 - 1
10-51769553-A-T c.1668A>T p.E556D Missense 8/8 - 1
10-51769562-G-A c.1677G>A p.T559= Synonymous 8/8 - 4
10-51769571-G-C c.1686G>C p.E562D Missense 8/8 - 2
10-51769571-G-T c.1686G>T p.E562D Missense 8/8 - 2
10-51769579-G-A c.1694G>A p.R565Q Missense 8/8 - 4
10-51769582-G-A c.1697G>A p.W566* Nonsense 8/8 - 1
10-51769583-G-A c.1698G>A p.W566* Nonsense 8/8 - 1
10-51769587-C-T c.1702C>T p.R568C Missense 8/8 - 2
10-51769588-G-A c.1703G>A p.R568H Missense 8/8 - 2
10-51769614-C-T c.1729C>T p.L577= Synonymous 8/8 - 1
10-51769616-G-A c.1731G>A p.L577= Synonymous 8/8 - 1
10-51769616-G-C c.1731G>C p.L577= Synonymous 8/8 - 1
10-51769616-G-T c.1731G>T p.L577= Synonymous 8/8 - 1
10-51769642-C-T c.1757C>T p.S586F Missense 8/8 - 1
10-51769648-G-A c.1763G>A p.G588D Missense 8/8 - 1
10-51769654-A-C c.1769A>C p.Q590P Missense 8/8 - 1
10-51769655-G-C c.1770G>C p.Q590H Missense 8/8 - 1
10-51769658-G-T c.1773G>T p.L591= Synonymous 8/8 - 1
10-51769662-C-T c.1777C>T p.R593W Missense 8/8 - 1
10-51769670-C-T c.1785C>T p.T595= Synonymous 8/8 - 3
10-51769677-G-T c.1792G>T p.E598* Nonsense 8/8 - 1
10-51769687-CA-C c.1802del p.Q601Rfs*15 Frameshift 8/8 - 1
10-51769689-A-G c.1804A>G p.T602A Missense 8/8 - 1
10-51769694-C-T c.1809C>T p.A603= Synonymous 8/8 - 1
10-51769698-C-T c.1813C>T p.L605= Synonymous 8/8 - 1
10-51769700-G-A c.1815G>A p.L605= Synonymous 8/8 - 1
10-51769700-G-C c.1815G>C p.L605= Synonymous 8/8 - 1
10-51769700-G-T c.1815G>T p.L605= Synonymous 8/8 - 1
10-51769717-C-T c.1832C>T p.S611F Missense 8/8 - 1
10-51769733-C-T c.1848C>T p.N616= Synonymous 8/8 - 1
10-51769746-G-T c.1861G>T p.E621* Nonsense 8/8 - 1
10-51769754-C-T c.1869C>T p.D623= Synonymous 8/8 - 1
10-51769762-C-T c.1877C>T p.T626M Missense 8/8 - 3
10-51769763-G-A c.1878G>A p.T626= Synonymous 8/8 - 1
10-51769765-C-T c.1880C>T p.A627V Missense 8/8 - 1
10-51769766-G-A c.1881G>A p.A627= Synonymous 8/8 - 1
10-51769766-G-C c.1881G>C p.A627= Synonymous 8/8 - 1
10-51769766-G-T c.1881G>T p.A627= Synonymous 8/8 - 1
10-51769769-C-T c.1884C>T p.L628= Synonymous 8/8 - 1
10-51769783-G-T c.1898G>T p.R633L Missense 8/8 - 1
10-51769786-A-C c.1901A>C p.K634T Missense 8/8 - 1
10-51769792-A-AT c.1908dup p.V637Cfs*70 Frameshift 8/8 - 1
10-51769799-C-A c.1914C>A p.V638= Synonymous 8/8 - 4
10-51769799-C-T c.1914C>T p.V638= Synonymous 8/8 - 4
10-51769801-T-C c.1916T>C p.L639P Missense 8/8 - 1
10-51769809-C-G c.1924C>G p.L642V Missense 8/8 - 1
10-51769873-A-G c.1988A>G p.Y663C Missense 8/8 - 1
10-51769908-G-A c.2023G>A p.V675M Missense 8/8 - 1
10-51769909-T-G c.2024T>G p.V675G Missense 8/8 - 1
10-51769912-T-C c.2027T>C p.L676P Missense 8/8 - 1
10-51769925-C-A c.2040C>A p.G680= Synonymous 8/8 - 1
10-51769925-C-G c.2040C>G p.G680= Synonymous 8/8 - 1
10-51769925-C-T c.2040C>T p.G680= Synonymous 8/8 - 1
10-51769940-T-C c.2055T>C p.C685= Synonymous 8/8 - 2