Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
17-76045144-A-G | c.1A>G | p.M1? | Missense | 4/22 | - | 1 |
17-76045150-A-G | c.7A>G | p.T3A | Missense | 4/22 | - | 2 |
17-76045167-C-A | c.24C>A | p.G8= | Synonymous | 4/22 | - | 1 |
17-76045167-C-G | c.24C>G | p.G8= | Synonymous | 4/22 | - | 1 |
17-76045167-C-T | c.24C>T | p.G8= | Synonymous | 4/22 | - | 1 |
17-76045169-A-C | c.26A>C | p.N9T | Missense | 4/22 | - | 1 |
17-76045169-A-G | c.26A>G | p.N9S | Missense | 4/22 | - | 1 |
17-76045174-A-T | c.31A>T | p.T11S | Missense | 4/22 | - | 2 |
17-76045178-G-A | c.35G>A | p.G12E | Missense | 4/22 | - | 1 |
17-76045180-C-T | c.37C>T | p.H13Y | Missense | 4/22 | - | 2 |
17-76045181-A-G | c.38A>G | p.H13R | Missense | 4/22 | - | 1 |
17-76045184-C-T | c.41C>T | p.T14I | Missense | 4/22 | - | 2 |
17-76045191-G-T | c.48G>T | p.K16N | Missense | 4/22 | - | 1 |
17-76045192-A-G | c.49A>G | p.T17A | Missense | 4/22 | - | 1 |
17-76045193-C-T | c.50C>T | p.T17I | Missense | 4/22 | - | 1 |
17-76045195-A-G | c.52A>G | p.N18D | Missense | 4/22 | - | 1 |
17-76045196-A-C | c.53A>C | p.N18T | Missense | 4/22 | - | 1 |
17-76045197-T-C | c.54T>C | p.N18= | Synonymous | 4/22 | - | 2 |
17-76045199-G-C | c.56G>C | p.G19A | Missense | 4/22 | - | 1 |
17-76045205-A-G | c.62A>G | p.N21S | Missense | 4/22 | - | 1 |
17-76045207-G-A | c.64G>A | p.G22S | Missense | 4/22 | - | 1 |
17-76045209-C-G | c.66C>G | p.G22= | Synonymous | 4/22 | - | 1 |
17-76045210-A-G | c.67A>G | p.T23A | Missense | 4/22 | - | 1 |
17-76045211-C-A | c.68C>A | p.T23N | Missense | 4/22 | - | 1 |
17-76045214-A-C | c.71A>C | p.N24T | Missense | 4/22 | - | 1 |
17-76045214-A-G | c.71A>G | p.N24S | Missense | 4/22 | - | 2 |
17-76045218-C-A | c.75C>A | p.G25= | Synonymous | 4/22 | - | 1 |
17-76045218-C-G | c.75C>G | p.G25= | Synonymous | 4/22 | - | 1 |
17-76045218-C-T | c.75C>T | p.G25= | Synonymous | 4/22 | - | 2 |
17-76045219-G-A | c.76G>A | p.A26T | Missense | 4/22 | - | 4 |
17-76045219-GCA-CAT | c.76_78delinsCAT | p.A26H | Missense | 4/22 | - | 2 |
17-76045219-GCA-TAT | c.76_78delinsTAT | p.A26Y | Missense | 4/22 | - | 1 |
17-76045219-GCA-TGT | c.76_78delinsTGT | p.A26C | Missense | 4/22 | - | 3 |
17-76045220-C-A | c.77C>A | p.A26E | Missense | 4/22 | - | 1 |
17-76045224-C-A | c.81C>A | p.L27= | Synonymous | 4/22 | - | 1 |
17-76045224-C-G | c.81C>G | p.L27= | Synonymous | 4/22 | - | 1 |
17-76045224-C-T | c.81C>T | p.L27= | Synonymous | 4/22 | - | 1 |
17-76045225-G-A | c.82G>A | p.V28I | Missense | 4/22 | - | 4 |
17-76045226-TC-AG | c.83_84delinsAG | p.V28E | Missense | 4/22 | - | 1 |
17-76045228-C-T | c.85C>T | p.Q29* | Nonsense | 4/22 | - | 5 |
17-76045234-C-T | c.91C>T | p.P31S | Missense | 4/22 | - | 1 |
17-76045235-C-T | c.92C>T | p.P31L | Missense | 4/22 | - | 6 |
17-76045242-T-C | c.99T>C | p.N33= | Synonymous | 4/22 | - | 1 |
17-76045242-T-G | c.99T>G | p.N33K | Missense | 4/22 | - | 1 |
17-76045243-C-T | c.100C>T | p.Q34* | Nonsense | 4/22 | - | 1 |
17-76045250-C-A | c.107C>A | p.A36D | Missense | 4/22 | - | 1 |
17-76045256-G-T | c.113G>T | p.G38V | Missense | 4/22 | - | 1 |
17-76045257-A-G | c.114A>G | p.G38= | Synonymous | 4/22 | - | 1 |
17-76045266-A-C | c.123A>C | p.G41= | Synonymous | 4/22 | - | 1 |
17-76045266-A-G | c.123A>G | p.G41= | Synonymous | 4/22 | - | 2 |
17-76045266-A-T | c.123A>T | p.G41= | Synonymous | 4/22 | - | 1 |
17-76045269-G-A | c.126G>A | p.A42= | Synonymous | 4/22 | - | 1 |
17-76045269-G-T | c.126G>T | p.A42= | Synonymous | 4/22 | - | 1 |
17-76045286-C-T | c.143C>T | p.A48V | Missense | 4/22 | - | 1 |
17-76045287-G-T | c.144G>T | p.A48= | Synonymous | 4/22 | - | 3 |
17-76045292-G-A | c.149G>A | p.R50K | Missense | 4/22 | - | 1 |
17-76045294-G-A | c.151G>A | p.V51M | Missense | 4/22 | - | 1 |
17-76045301-GT-AG | c.158_159delinsAG | p.G53E | Missense | 4/22 | - | 1 |
17-76045303-G-A | c.160G>A | p.V54I | Missense | 4/22 | - | 1 |
17-76045306-GC-CG | c.163_164delinsCG | p.A55R | Missense | 4/22 | - | 1 |
17-76045307-C-T | c.164C>T | p.A55V | Missense | 4/22 | - | 3 |
17-76045317-C-T | c.174C>T | p.S58= | Synonymous | 4/22 | - | 1 |
17-76045322-C-T | c.179C>T | p.S60F | Missense | 4/22 | - | 1 |
17-76045333-C-T | c.190C>T | p.H64Y | Missense | 4/22 | - | 1 |
17-76045337-G-T | c.194G>T | p.C65F | Missense | 4/22 | - | 1 |
17-76045339-T-G | c.196T>G | p.S66A | Missense | 4/22 | - | 1 |
17-76045348-G-T | c.205G>T | p.G69C | Missense | 4/22 | - | 1 |
17-76045356-T-A | c.213T>A | p.D71E | Missense | 4/22 | - | 1 |
17-76045356-T-G | c.213T>G | p.D71E | Missense | 4/22 | - | 1 |
17-76045357-G-A | c.214G>A | p.G72R | Missense | 4/22 | - | 3 |
17-76045357-G-C | c.214G>C | p.G72R | Missense | 4/22 | - | 2 |
17-76045358-G-A | c.215G>A | p.G72E | Missense | 4/22 | - | 1 |
17-76045360-A-T | c.217A>T | p.K73* | Nonsense | 4/22 | - | 1 |
17-76045362-A-G | c.219A>G | p.K73= | Synonymous | 4/22 | - | 1 |
17-76045363-A-G | c.220A>G | p.M74V | Missense | 4/22 | - | 1 |
17-76045366-G-T | c.223G>T | p.D75Y | Missense | 4/22 | - | 1 |
17-76045387-A-T | c.244A>T | p.R82* | Nonsense | 4/22 | - | 2 |
17-76045388-G-A | c.245G>A | p.R82K | Missense | 4/22 | - | 3 |
17-76045399-T-A | c.256T>A | p.C86S | Missense | 4/22 | - | 2 |
17-76045400-G-C | c.257G>C | p.C86S | Missense | 4/22 | - | 2 |
17-76045401-C-T | c.258C>T | p.C86= | Synonymous | 4/22 | - | 1 |
17-76045404-G-C | c.261G>C | p.W87C | Missense | 4/22 | - | 1 |
17-76045404-G-T | c.261G>T | p.W87C | Missense | 4/22 | - | 1 |
17-76045405-G-A | c.262G>A | p.G88S | Missense | 4/22 | - | 2 |
17-76045406-G-A | c.263G>A | p.G88D | Missense | 4/22 | - | 1 |
17-76045408-G-C | c.265G>C | p.A89P | Missense | 4/22 | - | 1 |
17-76045409-C-T | c.266C>T | p.A89V | Missense | 4/22 | - | 2 |
17-76045412-C-T | c.269C>T | p.S90F | Missense | 4/22 | - | 1 |
17-76045413-C-T | c.270C>T | p.S90= | Synonymous | 4/22 | - | 1 |
17-76045417-T-C | c.274T>C | p.S92P | Missense | 4/22 | - | 1 |
17-76045417-TC-AA | c.274_275delinsAA | p.S92N | Missense | 4/22 | - | 2 |
17-76045417-TC-CT | c.274_275delinsCT | p.S92L | Missense | 4/22 | - | 1 |
17-76045424-C-T | c.281C>T | p.A94V | Missense | 4/22 | - | 2 |
17-76045425-T-G | c.282T>G | p.A94= | Synonymous | 4/22 | - | 1 |
17-76045429-A-G | c.286A>G | p.I96V | Missense | 4/22 | - | 1 |
17-76045432-A-G | c.289A>G | p.N97D | Missense | 4/22 | - | 1 |
17-76045437-T-C | c.294T>C | p.L98= | Synonymous | 4/22 | - | 1 |
17-76045442-T-C | c.299T>C | p.L100P | Missense | 4/22 | - | 1 |
17-76045447-C-T | c.304C>T | p.P102S | Missense | 4/22 | - | 1 |
17-76045448-C-T | c.305C>T | p.P102L | Missense | 4/22 | - | 2 |
17-76045449-T-A | c.306T>A | p.P102= | Synonymous | 4/22 | - | 1 |
17-76045452-T-A | c.309T>A | p.N103K | Missense | 4/22 | - | 2 |
17-76045452-T-G | c.309T>G | p.N103K | Missense | 4/22 | - | 1 |
17-76045454-C-T | c.311C>T | p.A104V | Missense | 4/22 | - | 1 |
17-76045455-C-A | c.312C>A | p.A104= | Synonymous | 4/22 | - | 1 |
17-76045455-C-G | c.312C>G | p.A104= | Synonymous | 4/22 | - | 1 |
17-76045455-C-T | c.312C>T | p.A104= | Synonymous | 4/22 | - | 2 |
17-76045479-T-C | c.336T>C | p.L112= | Synonymous | 4/22 | - | 1 |
17-76045481-GA-AC | c.338_339delinsAC | p.G113D | Missense | 4/22 | - | 1 |
17-76045481-G-T | c.338G>T | p.G113V | Missense | 4/22 | - | 1 |
17-76045484-A-G | c.341A>G | p.H114R | Missense | 4/22 | - | 1 |
17-76045493-C-T | c.350C>T | p.T117I | Missense | 4/22 | - | 1 |
17-76045494-C-T | c.351C>T | p.T117= | Synonymous | 4/22 | - | 1 |
17-76045495-G-A | c.352G>A | p.V118M | Missense | 4/22 | - | 1 |
17-76045499-C-T | c.356C>T | p.A119V | Missense | 4/22 | - | 3 |
17-76045500-G-A | c.357G>A | p.A119= | Synonymous | 4/22 | - | 2 |
17-76045502-CA-TG | c.359_360inv | p.T120M | Missense | 4/22 | - | 1 |
17-76045504-G-C | c.361G>C | p.G121R | Missense | 4/22 | - | 1 |
17-76045516-A-C | c.373A>C | p.S125R | Missense | 4/22 | - | 1 |
17-76045518-T-A | c.375T>A | p.S125R | Missense | 4/22 | - | 1 |
17-76045518-T-G | c.375T>G | p.S125R | Missense | 4/22 | - | 1 |
17-76045521-T-A | c.378T>A | p.I126= | Synonymous | 4/22 | - | 1 |
17-76045521-T-C | c.378T>C | p.I126= | Synonymous | 4/22 | - | 1 |
17-76045526-G-T | c.383G>T | p.S128I | Missense | 4/22 | - | 1 |
17-76045529-C-T | c.386C>T | p.P129L | Missense | 4/22 | - | 1 |
17-76045531-AG-A | c.388del | p.V130Sfs*4 | Frameshift | 4/22 | - | 1 |
17-76045533-C-G | c.390C>G | p.V130= | Synonymous | 4/22 | - | 1 |
17-76045533-C-T | c.390C>T | p.V130= | Synonymous | 4/22 | - | 1 |
17-76045538-C-A | c.395C>A | p.A132D | Missense | 4/22 | - | 1 |
17-76045538-C-G | c.395C>G | p.A132G | Missense | 4/22 | - | 1 |
17-76045538-C-T | c.395C>T | p.A132V | Missense | 4/22 | - | 1 |
17-76045548-A-G | c.405A>G | p.Q135= | Synonymous | 4/22 | - | 1 |
17-76045549-A-G | c.406A>G | p.N136D | Missense | 4/22 | - | 1 |
17-76045556-G-A | c.413G>A | p.G138D | Missense | 4/22 | - | 1 |
17-76045559-A-G | c.416A>G | p.N139S | Missense | 4/22 | - | 1 |
17-76045561-C-A | c.418C>A | p.Q140K | Missense | 4/22 | - | 3 |
17-76045566-C-T | c.423C>T | p.N141= | Synonymous | 4/22 | - | 1 |
17-76045567-G-A | c.424G>A | p.G142R | Missense | 4/22 | - | 2 |
17-76045567-G-C | c.424G>C | p.G142R | Missense | 4/22 | - | 2 |
17-76045576-AC-GT | c.433_434inv | p.T145V | Missense | 4/22 | - | 1 |
17-76045579-G-A | c.436G>A | p.G146S | Missense | 4/22 | - | 3 |
17-76045580-G-A | c.437G>A | p.G146D | Missense | 4/22 | - | 1 |
17-76045581-C-T | c.438C>T | p.G146= | Synonymous | 4/22 | - | 1 |
17-76045582-A-G | c.439A>G | p.T147A | Missense | 4/22 | - | 1 |
17-76045585-TTA-CAT | c.442_444delinsCAT | p.L148H | Missense | 4/22 | - | 1 |
17-76045588-G-C | c.445G>C | p.G149R | Missense | 4/22 | - | 1 |
17-76045593-T-C | c.450T>C | p.A150= | Synonymous | 4/22 | - | 1 |
17-76045597-G-A | c.454G>A | p.G152R | Missense | 4/22 | - | 1 |
17-76045608-G-A | c.465G>A | p.L155= | Synonymous | 4/22 | - | 1 |
17-76045611-A-C | c.468A>C | p.P156= | Synonymous | 4/22 | - | 1 |
17-76045612-C-T | c.469C>T | p.Q157* | Nonsense | 4/22 | - | 1 |
17-76045615-G-A | c.472G>A | p.E158K | Missense | 4/22 | - | 1 |
17-76045619-G-C | c.476G>C | p.S159T | Missense | 4/22 | - | 1 |
17-76045621-A-G | c.478A>G | p.T160A | Missense | 4/22 | - | 1 |
17-76045628-C-T | c.485C>T | p.P162L | Missense | 4/22 | - | 1 |
17-76045630-C-G | c.487C>G | p.Q163E | Missense | 4/22 | - | 1 |
17-76045634-C-T | c.491C>T | p.T164M | Missense | 4/22 | - | 7 |
17-76045635-G-A | c.492G>A | p.T164= | Synonymous | 4/22 | - | 2 |
17-76045639-A-G | c.496A>G | p.T166A | Missense | 4/22 | - | 1 |
17-76045642-TC-CT | c.499_500delinsCT | p.S167L | Missense | 4/22 | - | 1 |
17-76045643-C-A | c.500C>A | p.S167Y | Missense | 4/22 | - | 4 |
17-76045655-C-A | c.512C>A | p.S171Y | Missense | 4/22 | - | 1 |
17-76045655-C-T | c.512C>T | p.S171F | Missense | 4/22 | - | 1 |
17-76045662-C-T | c.519C>T | p.S173= | Synonymous | 4/22 | - | 1 |
17-76045663-G-A | c.520G>A | p.A174T | Missense | 4/22 | - | 2 |
17-76045663-G-T | c.520G>T | p.A174S | Missense | 4/22 | - | 1 |
17-76045664-C-T | c.521C>T | p.A174V | Missense | 4/22 | - | 4 |
17-76045673-A-G | c.530A>G | p.Q177R | Missense | 4/22 | - | 1 |
17-76045677-C-T | c.534C>T | p.N178= | Synonymous | 4/22 | - | 1 |
17-76045678-C-A | c.535C>A | p.L179I | Missense | 4/22 | - | 1 |
17-76045682-A-G | c.539A>G | p.N180S | Missense | 4/22 | - | 1 |
17-76045687-G-T | c.544G>T | p.D182Y | Missense | 4/22 | - | 1 |
17-76045690-G-A | c.547G>A | p.G183R | Missense | 4/22 | - | 1 |
17-76045691-G-C | c.548G>C | p.G183A | Missense | 4/22 | - | 1 |
17-76045702-A-T | c.559A>T | p.T187S | Missense | 4/22 | - | 2 |
17-76045703-C-G | c.560C>G | p.T187S | Missense | 4/22 | - | 1 |
17-76045706-A-G | c.563A>G | p.N188S | Missense | 4/22 | - | 1 |
17-76045706-A-T | c.563A>T | p.N188I | Missense | 4/22 | - | 1 |
17-76045711-A-G | c.568A>G | p.M190V | Missense | 4/22 | - | 2 |
17-76045725-C-A | c.582C>A | p.P194= | Synonymous | 4/22 | - | 1 |
17-76045725-C-G | c.582C>G | p.P194= | Synonymous | 4/22 | - | 1 |
17-76045725-C-T | c.582C>T | p.P194= | Synonymous | 4/22 | - | 1 |
17-76045728-C-T | c.585C>T | p.N195= | Synonymous | 4/22 | - | 3 |
17-76045729-C-T | c.586C>T | p.P196S | Missense | 4/22 | - | 1 |
17-76045730-C-G | c.587C>G | p.P196R | Missense | 4/22 | - | 1 |
17-76045734-C-A | c.591C>A | p.I197= | Synonymous | 4/22 | - | 1 |
17-76045736-A-G | c.593A>G | p.N198S | Missense | 4/22 | - | 1 |
17-76045738-G-A | c.595G>A | p.A199T | Missense | 4/22 | - | 1 |
17-76045759-C-T | c.616C>T | p.P206S | Missense | 4/22 | - | 1 |
17-76045766-G-A | c.623G>A | p.W208* | Nonsense | 4/22 | - | 1 |
17-76045767-G-A | c.624G>A | p.W208* | Nonsense | 4/22 | - | 1 |
17-76045768-G-C | c.625G>C | p.G209R | Missense | 4/22 | - | 1 |
17-76045771-A-C | c.628A>C | p.M210L | Missense | 4/22 | - | 1 |
17-76045771-A-T | c.628A>T | p.M210L | Missense | 4/22 | - | 1 |
17-76045780-G-T | c.637G>T | p.G213C | Missense | 4/22 | - | 1 |
17-76045782-T-A | c.639T>A | p.G213= | Synonymous | 4/22 | - | 1 |
17-76045782-T-C | c.639T>C | p.G213= | Synonymous | 4/22 | - | 1 |
17-76045782-T-G | c.639T>G | p.G213= | Synonymous | 4/22 | - | 1 |
17-76045785-G-A | c.642G>A | p.M214I | Missense | 4/22 | - | 1 |
17-76045785-G-C | c.642G>C | p.M214I | Missense | 4/22 | - | 1 |
17-76045785-G-T | c.642G>T | p.M214I | Missense | 4/22 | - | 1 |
17-76045787-GG-AC | c.644_645delinsAC | p.G215D | Missense | 4/22 | - | 1 |
17-76045788-G-A | c.645G>A | p.G215= | Synonymous | 4/22 | - | 1 |
17-76045788-G-C | c.645G>C | p.G215= | Synonymous | 4/22 | - | 1 |
17-76045788-G-T | c.645G>T | p.G215= | Synonymous | 4/22 | - | 2 |
17-76045790-C-G | c.647C>G | p.A216G | Missense | 4/22 | - | 1 |
17-76045794-C-A | c.651C>A | p.I217= | Synonymous | 4/22 | - | 1 |
17-76045798-C-T | c.655C>T | p.P219S | Missense | 4/22 | - | 4 |
17-76045800-G-A | c.657G>A | p.P219= | Synonymous | 4/22 | - | 1 |
17-76045800-G-C | c.657G>C | p.P219= | Synonymous | 4/22 | - | 1 |
17-76045800-G-T | c.657G>T | p.P219= | Synonymous | 4/22 | - | 1 |
17-76045802-C-T | c.659C>T | p.P220L | Missense | 4/22 | - | 1 |
17-76045804-C-T | c.661C>T | p.H221Y | Missense | 4/22 | - | 2 |
17-76045806-C-T | c.663C>T | p.H221= | Synonymous | 4/22 | - | 2 |
17-76045811-A-C | c.668A>C | p.Q223P | Missense | 4/22 | - | 2 |
17-76045813-G-A | c.670G>A | p.G224S | Missense | 4/22 | - | 2 |
17-76045815-C-T | c.672C>T | p.G224= | Synonymous | 4/22 | - | 1 |
17-76045820-C-T | c.677C>T | p.P226L | Missense | 4/22 | - | 1 |
17-76045821-T-A | c.678T>A | p.P226= | Synonymous | 4/22 | - | 1 |
17-76045821-T-C | c.678T>C | p.P226= | Synonymous | 4/22 | - | 1 |
17-76045821-T-G | c.678T>G | p.P226= | Synonymous | 4/22 | - | 1 |
17-76045825-G-A | c.682G>A | p.A228T | Missense | 4/22 | - | 1 |
17-76045829-A-G | c.686A>G | p.N229S | Missense | 4/22 | - | 1 |
17-76045830-T-C | c.687T>C | p.N229= | Synonymous | 4/22 | - | 1 |
17-76045831-G-A | c.688G>A | p.G230R | Missense | 4/22 | - | 1 |
17-76045832-G-A | c.689G>A | p.G230E | Missense | 4/22 | - | 2 |
17-76045844-C-T | c.701C>T | p.S234F | Missense | 4/22 | - | 1 |
17-76045849-G-A | c.706G>A | p.V236I | Missense | 4/22 | - | 1 |
17-76045850-T-G | c.707T>G | p.V236G | Missense | 4/22 | - | 1 |
17-76045856-G-C | c.713G>C | p.G238A | Missense | 4/22 | - | 1 |
17-76045858-G-A | c.715G>A | p.G239S | Missense | 4/22 | - | 1 |
17-76045859-GC-AG | c.716_717delinsAG | p.G239E | Missense | 4/22 | - | 1 |
17-76045860-C-A | c.717C>A | p.G239= | Synonymous | 4/22 | - | 1 |
17-76045860-C-G | c.717C>G | p.G239= | Synonymous | 4/22 | - | 1 |
17-76045860-C-T | c.717C>T | p.G239= | Synonymous | 4/22 | - | 1 |
17-76045861-A-T | c.718A>T | p.S240C | Missense | 4/22 | - | 1 |
17-76045867-G-T | c.724G>T | p.E242* | Nonsense | 4/22 | - | 1 |
17-76045867-TGAAGGAATAAGCAATTCTGTGTGGGGA-T | c.724_750del | p.E242_G250del | InFrameDeletion | 4/22 | - | 1 |
17-76045871-G-C | c.728G>C | p.G243A | Missense | 4/22 | - | 1 |
17-76045868-AAGGAATAAGCAATTCTGTGTGGGGACTGTCCCCAGGTAACCCTGCCAC-A | c.731_778del | p.I244_G259del | InFrameDeletion | 4/22 | - | 1 |
17-76045877-GC-TGGGT | c.734_735delinsTGGGT | p.S245delinsMG | MultiAAMissense | 4/22 | - | 1 |
17-76045877-G-A | c.734G>A | p.S245N | Missense | 4/22 | - | 3 |
17-76045881-T-A | c.738T>A | p.N246K | Missense | 4/22 | - | 3 |
17-76045883-C-T | c.740C>T | p.S247F | Missense | 4/22 | - | 2 |
17-76045885-GTG-TTT | c.742_744delinsTTT | p.V248F | Missense | 4/22 | - | 1 |
17-76045886-T-C | c.743T>C | p.V248A | Missense | 4/22 | - | 3 |
17-76045891-GG-TT | c.748_749delinsTT | p.G250L | Missense | 4/22 | - | 1 |
17-76045891-G-T | c.748G>T | p.G250* | Nonsense | 4/22 | - | 1 |
17-76045894-C-A | c.751C>A | p.L251M | Missense | 4/22 | - | 1 |
17-76045895-T-A | c.752T>A | p.L251Q | Missense | 4/22 | - | 1 |
17-76045900-C-T | c.757C>T | p.P253S | Missense | 4/22 | - | 1 |
17-76045902-A-T | c.759A>T | p.P253= | Synonymous | 4/22 | - | 1 |
17-76045907-A-C | c.764A>C | p.N255T | Missense | 4/22 | - | 2 |
17-76045908-C-T | c.765C>T | p.N255= | Synonymous | 4/22 | - | 1 |
17-76045912-G-A | c.769G>A | p.A257T | Missense | 4/22 | - | 1 |
17-76045913-C-T | c.770C>T | p.A257V | Missense | 4/22 | - | 1 |
17-76045914-C-A | c.771C>A | p.A257= | Synonymous | 4/22 | - | 1 |
17-76045914-C-G | c.771C>G | p.A257= | Synonymous | 4/22 | - | 1 |
17-76045914-C-T | c.771C>T | p.A257= | Synonymous | 4/22 | - | 1 |
17-76045918-G-A | c.775G>A | p.G259R | Missense | 4/22 | - | 1 |
17-76045918-G-C | c.775G>C | p.G259R | Missense | 4/22 | - | 1 |
17-76045919-G-A | c.776G>A | p.G259E | Missense | 4/22 | - | 1 |
17-76045934-G-T | c.791G>T | p.G264V | Missense | 4/22 | - | 1 |
17-76045940-G-A | c.797G>A | p.S266N | Missense | 4/22 | - | 1 |
17-76045939-A-C | c.796A>C | p.S266R | Missense | 4/22 | - | 1 |
17-76045941-T-A | c.798T>A | p.S266R | Missense | 4/22 | - | 1 |
17-76045941-T-G | c.798T>G | p.S266R | Missense | 4/22 | - | 1 |
17-76045943-A-G | c.800A>G | p.Q267R | Missense | 4/22 | - | 1 |
17-76045944-G-A | c.801G>A | p.Q267= | Synonymous | 4/22 | - | 1 |
17-76045944-G-T | c.801G>T | p.Q267H | Missense | 4/22 | - | 1 |
17-76045949-A-G | c.806A>G | p.N269S | Missense | 4/22 | - | 1 |
17-76045951-G-A | c.808G>A | p.G270R | Missense | 4/22 | - | 1 |
17-76045951-G-C | c.808G>C | p.G270R | Missense | 4/22 | - | 1 |
17-76045952-G-A | c.809G>A | p.G270E | Missense | 4/22 | - | 1 |
17-76045967-C-T | c.824C>T | p.S275L | Missense | 4/22 | - | 4 |
17-76045970-C-T | c.827C>T | p.A276V | Missense | 4/22 | - | 1 |
17-76045976-G-C | c.833G>C | p.S278T | Missense | 4/22 | - | 1 |
17-76045983-A-G | c.840A>G | p.K280= | Synonymous | 4/22 | - | 1 |
17-76045995-C-A | c.852C>A | p.S284= | Synonymous | 4/22 | - | 1 |
17-76045995-C-T | c.852C>T | p.S284= | Synonymous | 4/22 | - | 1 |
17-76045996-A-T | c.853A>T | p.S285C | Missense | 4/22 | - | 1 |
17-76045999-AG-CT | c.856_857inv | p.S286L | Missense | 4/22 | - | 1 |
17-76046002-G-A | c.859G>A | p.A287T | Missense | 4/22 | - | 1 |
17-76046013-G-C | c.870G>C | p.K290N | Missense | 4/22 | - | 1 |
17-76046014-G-A | c.871G>A | p.E291K | Missense | 4/22 | - | 1 |
17-76046032-G-T | c.889G>T | p.A297S | Missense | 4/22 | - | 1 |
17-76046036-G-T | c.893G>T | p.W298L | Missense | 4/22 | - | 1 |
17-76046047-C-T | c.904C>T | p.P302S | Missense | 4/22 | - | 1 |
17-76046051-C-A | c.908C>A | p.P303H | Missense | 4/22 | - | 1 |
17-76046052-T-A | c.909T>A | p.P303= | Synonymous | 4/22 | - | 1 |
17-76046052-T-C | c.909T>C | p.P303= | Synonymous | 4/22 | - | 1 |
17-76046052-T-G | c.909T>G | p.P303= | Synonymous | 4/22 | - | 1 |
17-76046053-G-A | c.910G>A | p.A304T | Missense | 4/22 | - | 1 |
17-76046053-G-C | c.910G>C | p.A304P | Missense | 4/22 | - | 1 |
17-76046054-C-T | c.911C>T | p.A304V | Missense | 4/22 | - | 1 |
17-76046056-G-A | c.913G>A | p.G305S | Missense | 4/22 | - | 1 |
17-76046060-C-A | c.917C>A | p.P306H | Missense | 4/22 | - | 2 |
17-76046063-G-A | c.920G>A | p.G307E | Missense | 4/22 | - | 1 |
17-76046064-A-T | c.921A>T | p.G307= | Synonymous | 4/22 | - | 1 |
17-76046070-C-A | c.927C>A | p.L309= | Synonymous | 4/22 | - | 1 |
17-76046070-C-G | c.927C>G | p.L309= | Synonymous | 4/22 | - | 1 |
17-76046070-C-T | c.927C>T | p.L309= | Synonymous | 4/22 | - | 1 |
17-76046092-A-C | c.949A>C | p.N317H | Missense | 4/22 | - | 2 |
17-76046093-A-C | c.950A>C | p.N317T | Missense | 4/22 | - | 6 |
17-76046096-A-G | c.953A>G | p.N318S | Missense | 4/22 | - | 4 |
17-76046101-G-A | c.958G>A | p.V320I | Missense | 4/22 | - | 4 |
17-76046104-G-A | c.961G>A | p.G321S | Missense | 4/22 | - | 1 |
17-76046112-C-T | c.969C>T | p.I323= | Synonymous | 4/22 | - | 1 |
17-76046113-CCA-C | c.970_971del | p.H324Ffs*13 | Frameshift | 4/22 | - | 1 |
17-76046115-T-A | c.972T>A | p.H324Q | Missense | 4/22 | - | 1 |
17-76046115-T-G | c.972T>G | p.H324Q | Missense | 4/22 | - | 1 |
17-76046122-G-T | c.979G>T | p.A327S | Missense | 4/22 | - | 1 |
17-76046135-C-T | c.992C>T | p.P331L | Missense | 4/22 | - | 1 |
17-76046137-A-C | c.994A>C | p.S332R | Missense | 4/22 | - | 1 |
17-76046139-C-A | c.996C>A | p.S332R | Missense | 4/22 | - | 1 |
17-76046139-C-G | c.996C>G | p.S332R | Missense | 4/22 | - | 1 |
17-76046140-CGA-TGT | c.997_999delinsTGT | p.R333C | Missense | 4/22 | - | 1 |
17-76046141-G-T | c.998G>T | p.R333L | Missense | 4/22 | - | 1 |
17-76046146-A-T | c.1003A>T | p.T335S | Missense | 4/22 | - | 1 |
17-76046147-C-G | c.1004C>G | p.T335S | Missense | 4/22 | - | 1 |
17-76046155-G-A | c.1012G>A | p.G338S | Missense | 4/22 | - | 3 |
17-76046156-G-T | c.1013G>T | p.G338V | Missense | 4/22 | - | 1 |
17-76046158-G-C | c.1015G>C | p.V339L | Missense | 4/22 | - | 1 |
17-76046158-G-T | c.1015G>T | p.V339L | Missense | 4/22 | - | 1 |
17-76046159-T-C | c.1016T>C | p.V339A | Missense | 4/22 | - | 1 |
17-76046163-T-C | c.1020T>C | p.N340= | Synonymous | 4/22 | - | 1 |
17-76046165-G-A | c.1022G>A | p.G341E | Missense | 4/22 | - | 2 |
17-76046169-A-G | c.1026A>G | p.E342= | Synonymous | 4/22 | - | 1 |
17-76046175-A-G | c.1032A>G | p.G344= | Synonymous | 4/22 | - | 1 |
17-76046179-C-T | c.1036C>T | p.P346S | Missense | 4/22 | - | 1 |
17-76046182-C-T | c.1039C>T | p.P347S | Missense | 4/22 | - | 1 |
17-76046195-C-T | c.1052C>T | p.S351F | Missense | 4/22 | - | 3 |
17-76046198-A-G | c.1055A>G | p.N352S | Missense | 4/22 | - | 2 |
17-76046199-C-T | c.1056C>T | p.N352= | Synonymous | 4/22 | - | 1 |
17-76046210-A-G | c.1067A>G | p.N356S | Missense | 4/22 | - | 2 |
17-76046213-GG-AC | c.1070_1071delinsAC | p.G357D | Missense | 4/22 | - | 1 |
17-76046211-T-TG | c.1071dup | p.K358Efs*10 | Frameshift | 4/22 | - | 1 |
17-76046228-G-A | c.1085G>A | p.G362E | Missense | 4/22 | - | 1 |
17-76046228-G-T | c.1085G>T | p.G362V | Missense | 4/22 | - | 1 |
17-76046229-G-A | c.1086G>A | p.G362= | Synonymous | 4/22 | - | 1 |
17-76046229-G-C | c.1086G>C | p.G362= | Synonymous | 4/22 | - | 1 |
17-76046229-G-T | c.1086G>T | p.G362= | Synonymous | 4/22 | - | 1 |
17-76046235-G-A | c.1092G>A | p.E364= | Synonymous | 4/22 | - | 1 |
17-76046235-G-C | c.1092G>C | p.E364D | Missense | 4/22 | - | 2 |
17-76046235-G-T | c.1092G>T | p.E364D | Missense | 4/22 | - | 2 |
17-76046239-C-G | c.1096C>G | p.P366A | Missense | 4/22 | - | 1 |
17-76046240-C-T | c.1097C>T | p.P366L | Missense | 4/22 | - | 1 |
17-76046243-G-A | c.1100G>A | p.S367N | Missense | 4/22 | - | 1 |
17-76046245-G-A | c.1102G>A | p.V368I | Missense | 4/22 | - | 1 |
17-76046247-C-T | c.1104C>T | p.V368= | Synonymous | 4/22 | - | 1 |
17-76046248-ACC-GCAGCA | c.1105_1107delinsGCAGCA | p.T369delinsAA | MultiAAMissense | 4/22 | - | 1 |
17-76046252-G-T | c.1109G>T | p.S370I | Missense | 4/22 | - | 1 |
17-76046258-A-C | c.1115A>C | p.N372T | Missense | 4/22 | - | 1 |
17-76046258-A-G | c.1115A>G | p.N372S | Missense | 4/22 | - | 1 |
17-76046260-C-A | c.1117C>A | p.P373T | Missense | 4/22 | - | 1 |
17-76046263-A-G | c.1120A>G | p.T374A | Missense | 4/22 | - | 1 |
17-76046265-C-T | c.1122C>T | p.T374= | Synonymous | 4/22 | - | 1 |
17-76046266-G-A | c.1123G>A | p.V375I | Missense | 4/22 | - | 3 |
17-76046266-G-C | c.1123G>C | p.V375L | Missense | 4/22 | - | 1 |
17-76046266-G-T | c.1123G>T | p.V375L | Missense | 4/22 | - | 1 |
17-76046269-C-A | c.1126C>A | p.Q376K | Missense | 4/22 | - | 1 |
17-76046276-G-A | c.1133G>A | p.G378D | Missense | 4/22 | - | 2 |
17-76046276-G-C | c.1133G>C | p.G378A | Missense | 4/22 | - | 1 |
17-76046279-GT-AG | c.1136_1137delinsAG | p.G379E | Missense | 4/22 | - | 1 |
17-76046283-A-G | c.1140A>G | p.E380= | Synonymous | 4/22 | - | 1 |
17-76046285-A-G | c.1142A>G | p.H381R | Missense | 4/22 | - | 1 |
17-76046294-C-T | c.1151C>T | p.S384F | Missense | 4/22 | - | 3 |
17-76046300-C-T | c.1157C>T | p.A386V | Missense | 4/22 | - | 1 |
17-76046305-G-A | c.1162G>A | p.A388T | Missense | 4/22 | - | 1 |
17-76046306-C-T | c.1163C>T | p.A388V | Missense | 4/22 | - | 4 |
17-76046307-G-A | c.1164G>A | p.A388= | Synonymous | 4/22 | - | 2 |
17-76046307-G-C | c.1164G>C | p.A388= | Synonymous | 4/22 | - | 1 |
17-76046307-G-T | c.1164G>T | p.A388= | Synonymous | 4/22 | - | 1 |
17-76046311-TC-CT | c.1168_1169delinsCT | p.S390L | Missense | 4/22 | - | 1 |
17-76046315-C-T | c.1172C>T | p.S391F | Missense | 4/22 | - | 2 |
17-76046324-C-T | c.1181C>T | p.T394I | Missense | 4/22 | - | 1 |
17-76046327-C-T | c.1184C>T | p.A395V | Missense | 4/22 | - | 1 |
17-76046332-G-A | c.1189G>A | p.E397K | Missense | 4/22 | - | 4 |
17-76046332-G-C | c.1189G>C | p.E397Q | Missense | 4/22 | - | 1 |
17-76046348-G-A | c.1205G>A | p.G402D | Missense | 4/22 | - | 2 |
17-76046349-T-A | c.1206T>A | p.G402= | Synonymous | 4/22 | - | 1 |
17-76046365-G-A | c.1222G>A | p.E408K | Missense | 4/22 | - | 1 |
17-76046365-G-T | c.1222G>T | p.E408* | Nonsense | 4/22 | - | 2 |
17-76046366-A-G | c.1223A>G | p.E408G | Missense | 4/22 | - | 1 |
17-76046368-G-A | c.1225G>A | p.G409R | Missense | 4/22 | - | 1 |
17-76046372-G-A | c.1229G>A | p.S410N | Missense | 4/22 | - | 1 |
17-76046377-GGG-AGC | c.1234_1236delinsAGC | p.G412S | Missense | 4/22 | - | 1 |
17-76046390-C-A | c.1247C>A | p.T416K | Missense | 4/22 | - | 1 |
17-76046390-C-T | c.1247C>T | p.T416M | Missense | 4/22 | - | 3 |
17-76046391-G-A | c.1248G>A | p.T416= | Synonymous | 4/22 | - | 1 |
17-76046391-G-C | c.1248G>C | p.T416= | Synonymous | 4/22 | - | 1 |
17-76046391-G-T | c.1248G>T | p.T416= | Synonymous | 4/22 | - | 1 |
17-76046392-G-A | c.1249G>A | p.G417R | Missense | 4/22 | - | 1 |
17-76046392-GG-AC | c.1249_1250delinsAC | p.G417T | Missense | 4/22 | - | 1 |
17-76046395-G-A | c.1252G>A | p.E418K | Missense | 4/22 | - | 1 |
17-76046401-C-T | c.1258C>T | p.R420* | Nonsense | 4/22 | - | 1 |
17-76046402-G-A | c.1259G>A | p.R420Q | Missense | 4/22 | - | 1 |
17-76046404-A-G | c.1261A>G | p.R421G | Missense | 4/22 | - | 1 |
17-76046407-C-T | c.1264C>T | p.R422* | Nonsense | 4/22 | - | 1 |
17-76046408-G-A | c.1265G>A | p.R422Q | Missense | 4/22 | - | 3 |
17-76046415-A-G | c.1272A>G | p.K424= | Synonymous | 4/22 | - | 1 |
17-76046416-G-A | c.1273G>A | p.G425R | Missense | 4/22 | - | 1 |
17-76046419-A-T | c.1276A>T | p.I426F | Missense | 4/22 | - | 1 |
17-76046424-A-G | c.1281A>G | p.I427M | Missense | 4/22 | - | 1 |
17-76046432-G-C | c.1289G>C | p.G430A | Missense | 4/22 | - | 1 |
17-76046435-A-G | c.1292A>G | p.H431R | Missense | 4/22 | - | 1 |
17-76046443-T-C | c.1300T>C | p.L434= | Synonymous | 4/22 | - | 1 |
17-76046445-G-A | c.1302G>A | p.L434= | Synonymous | 4/22 | - | 1 |
17-76046449-A-T | c.1306A>T | p.R436W | Missense | 4/22 | - | 1 |
17-76046451-G-C | c.1308G>C | p.R436S | Missense | 4/22 | - | 1 |
17-76046451-G-T | c.1308G>T | p.R436S | Missense | 4/22 | - | 1 |
17-76046457-T-C | c.1314T>C | p.D438= | Synonymous | 4/22 | - | 1 |
17-76046458-C-T | c.1315C>T | p.L439F | Missense | 4/22 | - | 4 |
17-76046462-A-G | c.1319A>G | p.D440G | Missense | 4/22 | - | 1 |
17-76046467-AGA-TGT | c.1324_1326delinsTGT | p.R442C | Missense | 4/22 | - | 1 |
17-76046470-G-T | c.1327G>T | p.V443F | Missense | 4/22 | - | 1 |
17-76046473-C-T | c.1330C>T | p.L444= | Synonymous | 4/22 | - | 2 |
17-76046475-G-A | c.1332G>A | p.L444= | Synonymous | 4/22 | - | 2 |
17-76046475-G-C | c.1332G>C | p.L444= | Synonymous | 4/22 | - | 2 |
17-76046475-G-T | c.1332G>T | p.L444= | Synonymous | 4/22 | - | 2 |
17-76046478-T-A | c.1335T>A | p.S445= | Synonymous | 4/22 | - | 1 |
17-76046483-C-G | c.1340C>G | p.T447S | Missense | 4/22 | - | 1 |
17-76046483-C-T | c.1340C>T | p.T447I | Missense | 4/22 | - | 1 |
17-76046494-C-T | c.1351C>T | p.Q451* | Nonsense | 4/22 | - | 1 |
17-76046496-G-C | c.1353G>C | p.Q451H | Missense | 4/22 | - | 2 |
17-76046496-G-T | c.1353G>T | p.Q451H | Missense | 4/22 | - | 2 |
17-76046500-C-A | c.1357C>A | p.P453T | Missense | 4/22 | - | 1 |
17-76046500-C-T | c.1357C>T | p.P453S | Missense | 4/22 | - | 2 |
17-76046501-C-A | c.1358C>A | p.P453H | Missense | 4/22 | - | 1 |
17-76046514-C-T | c.1371C>T | p.N457= | Synonymous | 4/22 | - | 2 |
17-76046527-T-C | c.1384T>C | p.F462L | Missense | 4/22 | - | 1 |
17-76046529-T-A | c.1386T>A | p.F462L | Missense | 4/22 | - | 1 |
17-76046529-T-G | c.1386T>G | p.F462L | Missense | 4/22 | - | 1 |
17-76046538-C-A | c.1395C>A | p.S465= | Synonymous | 4/22 | - | 1 |
17-76046538-C-G | c.1395C>G | p.S465= | Synonymous | 4/22 | - | 1 |
17-76046538-C-T | c.1395C>T | p.S465= | Synonymous | 4/22 | - | 1 |
17-76046539-C-A | c.1396C>A | p.P466T | Missense | 4/22 | - | 1 |
17-76046548-G-A | c.1405G>A | p.E469K | Missense | 4/22 | - | 2 |
17-76046553-G-T | c.1410G>T | p.R470S | Missense | 4/22 | - | 1 |
17-76046553-G-GA | c.1415dup | p.N472Kfs*2 | Frameshift | 4/22 | - | 1 |
17-76046560-G-C | c.1417G>C | p.D473H | Missense | 4/22 | - | 1 |
17-76046566-G-A | c.1423G>A | p.G475R | Missense | 4/22 | - | 1 |
17-76046566-GGG-TGT | c.1423_1425delinsTGT | p.G475C | Missense | 4/22 | - | 1 |
17-76046567-G-A | c.1424G>A | p.G475E | Missense | 4/22 | - | 1 |
17-76046570-C-T | c.1427C>T | p.T476I | Missense | 4/22 | - | 1 |
17-76046577-C-A | c.1434C>A | p.A478= | Synonymous | 4/22 | - | 2 |
17-76046577-C-G | c.1434C>G | p.A478= | Synonymous | 4/22 | - | 2 |
17-76046577-C-T | c.1434C>T | p.A478= | Synonymous | 4/22 | - | 2 |
17-76046584-T-A | c.1441T>A | p.C481S | Missense | 4/22 | - | 2 |
17-76046585-G-C | c.1442G>C | p.C481S | Missense | 4/22 | - | 1 |
17-76046587-G-A | c.1444G>A | p.A482T | Missense | 4/22 | - | 1 |
17-76046588-C-T | c.1445C>T | p.A482V | Missense | 4/22 | - | 1 |
17-76046599-G-C | c.1456G>C | p.A486P | Missense | 4/22 | - | 1 |
17-76046599-G-T | c.1456G>T | p.A486S | Missense | 4/22 | - | 1 |
17-76046608-T-G | c.1465T>G | p.S489A | Missense | 4/22 | - | 1 |
17-76046612-G-A | c.1469G>A | p.G490E | Missense | 4/22 | - | 1 |
17-76046612-G-C | c.1469G>C | p.G490A | Missense | 4/22 | - | 2 |
17-76046613-G-C | c.1470G>C | p.G490= | Synonymous | 4/22 | - | 1 |
17-76046610-A-AG | c.1473dup | p.K492Efs*56 | Frameshift | 4/22 | - | 1 |
17-76046610-AG-A | c.1473del | p.K492Rfs*7 | Frameshift | 4/22 | - | 1 |
17-76046618-A-C | c.1475A>C | p.K492T | Missense | 4/22 | - | 1 |
17-76046621-A-C | c.1478A>C | p.N493T | Missense | 4/22 | - | 1 |
17-76046622-C-T | c.1479C>T | p.N493= | Synonymous | 4/22 | - | 2 |
17-76046623-G-A | c.1480G>A | p.D494N | Missense | 4/22 | - | 9 |
17-76046627-G-T | c.1484G>T | p.G495V | Missense | 4/22 | - | 1 |
17-76046629-TC-CG | c.1486_1487delinsCG | p.S496R | Missense | 4/22 | - | 1 |
17-76046630-C-T | c.1487C>T | p.S496F | Missense | 4/22 | - | 4 |
17-76046634-C-G | c.1491C>G | p.I497M | Missense | 4/22 | - | 1 |
17-76046636-T-C | c.1493T>C | p.M498T | Missense | 4/22 | - | 1 |
17-76046637-G-A | c.1494G>A | p.M498I | Missense | 4/22 | - | 2 |
17-76046637-G-C | c.1494G>C | p.M498I | Missense | 4/22 | - | 2 |
17-76046637-G-T | c.1494G>T | p.M498I | Missense | 4/22 | - | 2 |
17-76046642-G-C | c.1499G>C | p.S500T | Missense | 4/22 | - | 1 |
17-76046644-A-G | c.1501A>G | p.T501A | Missense | 4/22 | - | 1 |
17-76046645-C-G | c.1502C>G | p.T501R | Missense | 4/22 | - | 1 |
17-76046651-C-A | c.1508C>A | p.T503N | Missense | 4/22 | - | 1 |
17-76046653-T-G | c.1510T>G | p.S504A | Missense | 4/22 | - | 1 |
17-76046657-C-T | c.1514C>T | p.S505L | Missense | 4/22 | - | 1 |
17-76046673-C-T | c.1530C>T | p.V510= | Synonymous | 4/22 | - | 1 |
17-76046676-C-A | c.1533C>A | p.N511K | Missense | 4/22 | - | 6 |
17-76046676-C-G | c.1533C>G | p.N511K | Missense | 4/22 | - | 1 |
17-76046681-C-T | c.1538C>T | p.P513L | Missense | 4/22 | - | 1 |
17-76046690-C-T | c.1547C>T | p.A516V | Missense | 4/22 | - | 1 |
17-76046694-G-A | c.1551G>A | p.V517= | Synonymous | 4/22 | - | 2 |
17-76046694-G-C | c.1551G>C | p.V517= | Synonymous | 4/22 | - | 1 |
17-76046694-G-T | c.1551G>T | p.V517= | Synonymous | 4/22 | - | 1 |
17-76046695-C-T | c.1552C>T | p.P518S | Missense | 4/22 | - | 1 |
17-76046697-A-C | c.1554A>C | p.P518= | Synonymous | 4/22 | - | 2 |
17-76046697-A-G | c.1554A>G | p.P518= | Synonymous | 4/22 | - | 3 |
17-76046697-A-T | c.1554A>T | p.P518= | Synonymous | 4/22 | - | 2 |
17-76046699-C-T | c.1556C>T | p.A519V | Missense | 4/22 | - | 1 |
17-76046707-G-T | c.1564G>T | p.G522C | Missense | 4/22 | - | 1 |
17-76046718-C-A | c.1575C>A | p.D525E | Missense | 4/22 | - | 1 |
17-76046718-C-G | c.1575C>G | p.D525E | Missense | 4/22 | - | 1 |
17-76046720-G-A | c.1577G>A | p.S526N | Missense | 4/22 | - | 1 |
17-76046726-A-G | c.1583A>G | p.N528S | Missense | 4/22 | - | 1 |
17-76046738-AG-A | c.1595del | p.S532Mfs*10 | Frameshift | 4/22 | - | 1 |
17-76046737-A-C | c.1594A>C | p.S532R | Missense | 4/22 | - | 1 |
17-76046739-T-A | c.1596T>A | p.S532R | Missense | 4/22 | - | 1 |
17-76046739-T-G | c.1596T>G | p.S532R | Missense | 4/22 | - | 1 |
17-76046740-G-C | c.1597G>C | p.G533R | Missense | 4/22 | - | 1 |
17-76046745-G-A | c.1602G>A | p.P534= | Synonymous | 4/22 | - | 1 |
17-76046745-G-C | c.1602G>C | p.P534= | Synonymous | 4/22 | - | 1 |
17-76046745-G-T | c.1602G>T | p.P534= | Synonymous | 4/22 | - | 2 |
17-76046752-T-G | c.1609T>G | p.W537G | Missense | 4/22 | - | 1 |
17-76046752-T-TG | c.1615dup | p.D539Gfs*9 | Frameshift | 4/22 | - | 1 |
17-76046759-A-G | c.1616A>G | p.D539G | Missense | 4/22 | - | 1 |
17-76046762-CG-TT | c.1619_1620delinsTT | p.S540F | Missense | 4/22 | - | 1 |
17-76046762-C-T | c.1619C>T | p.S540L | Missense | 4/22 | - | 1 |
17-76046763-G-A | c.1620G>A | p.S540= | Synonymous | 4/22 | - | 1 |
17-76046776-G-T | c.1633G>T | p.A545S | Missense | 4/22 | - | 2 |
17-76046778-T-A | c.1635T>A | p.A545= | Synonymous | 4/22 | - | 1 |
17-76046778-T-C | c.1635T>C | p.A545= | Synonymous | 4/22 | - | 1 |
17-76046778-T-G | c.1635T>G | p.A545= | Synonymous | 4/22 | - | 2 |
17-76046785-A-G | c.1642A>G | p.T548A | Missense | 4/22 | - | 1 |
17-76046791-G-A | c.1648G>A | p.A550T | Missense | 4/22 | - | 2 |
17-76046806-G-C | c.1663G>C | p.G555R | Missense | 4/22 | - | 1 |
17-76046807-G-A | c.1664G>A | p.G555D | Missense | 4/22 | - | 3 |
17-76046809-C-A | c.1666C>A | p.H556N | Missense | 4/22 | - | 1 |
17-76046809-C-T | c.1666C>T | p.H556Y | Missense | 4/22 | - | 1 |
17-76046812-GC-TG | c.1669_1670delinsTG | p.A557C | Missense | 4/22 | - | 1 |
17-76046814-T-A | c.1671T>A | p.A557= | Synonymous | 4/22 | - | 1 |
17-76046815-T-G | c.1672T>G | p.W558G | Missense | 4/22 | - | 1 |
17-76046827-G-A | c.1684G>A | p.A562T | Missense | 4/22 | - | 1 |
17-76046827-G-T | c.1684G>T | p.A562S | Missense | 4/22 | - | 1 |
17-76046839-G-T | c.1696G>T | p.D566Y | Missense | 4/22 | - | 4 |
17-76046846-C-A | c.1703C>A | p.S568* | Nonsense | 4/22 | - | 1 |
17-76046847-A-C | c.1704A>C | p.S568= | Synonymous | 4/22 | - | 1 |
17-76046847-A-G | c.1704A>G | p.S568= | Synonymous | 4/22 | - | 1 |
17-76046847-A-T | c.1704A>T | p.S568= | Synonymous | 4/22 | - | 1 |
17-76046849-C-T | c.1706C>T | p.P569L | Missense | 4/22 | - | 8 |
17-76046863-C-A | c.1720C>A | p.P574T | Missense | 4/22 | - | 1 |
17-76046866-C-T | c.1723C>T | p.P575S | Missense | 4/22 | - | 4 |
17-76046867-C-A | c.1724C>A | p.P575Q | Missense | 4/22 | - | 2 |
17-76046868-A-G | c.1725A>G | p.P575= | Synonymous | 4/22 | - | 1 |
17-76046872-C-T | c.1729C>T | p.P577S | Missense | 4/22 | - | 2 |
17-76046879-C-T | c.1736C>T | p.S579F | Missense | 4/22 | - | 2 |
17-76046884-ACAC-A | c.1741_1743del | p.H581del | InFrameDeletion | 4/22 | - | 3 |
17-76046888-G-T | c.1745G>T | p.W582L | Missense | 4/22 | - | 2 |
17-76046897-G-C | c.1754G>C | p.G585A | Missense | 4/22 | - | 1 |
17-76046900-CAAAGATCAAA-C | c.1757_1766del | p.Q586Lfs*71 | Frameshift | 4/22 | - | 1 |
17-76046905-T-G | c.1762T>G | p.S588A | Missense | 4/22 | - | 1 |
17-76046910-T-C | c.1767T>C | p.N589= | Synonymous | 4/22 | - | 1 |
17-76046923-G-A | c.1780G>A | p.A594T | Missense | 4/22 | - | 1 |
17-76046928-A-C | c.1785A>C | p.G595= | Synonymous | 4/22 | - | 1 |
17-76046928-A-G | c.1785A>G | p.G595= | Synonymous | 4/22 | - | 1 |
17-76046928-A-T | c.1785A>T | p.G595= | Synonymous | 4/22 | - | 1 |
17-76046928-AG-A | c.1790del | p.G597Efs*63 | Frameshift | 4/22 | - | 1 |
17-76046934-A-C | c.1791A>C | p.G597= | Synonymous | 4/22 | - | 1 |
17-76046934-A-G | c.1791A>G | p.G597= | Synonymous | 4/22 | - | 1 |
17-76046934-A-T | c.1791A>T | p.G597= | Synonymous | 4/22 | - | 1 |
17-76046936-A-C | c.1793A>C | p.D598A | Missense | 4/22 | - | 1 |
17-76046938-T-A | c.1795T>A | p.W599R | Missense | 4/22 | - | 1 |
17-76046938-T-C | c.1795T>C | p.W599R | Missense | 4/22 | - | 5 |
17-76046938-T-G | c.1795T>G | p.W599G | Missense | 4/22 | - | 1 |
17-76046941-G-A | c.1798G>A | p.A600T | Missense | 4/22 | - | 1 |
17-76046941-G-T | c.1798G>T | p.A600S | Missense | 4/22 | - | 1 |
17-76046951-C-T | c.1808C>T | p.S603L | Missense | 4/22 | - | 3 |
17-76046952-G-A | c.1809G>A | p.S603= | Synonymous | 4/22 | - | 2 |
17-76046952-G-C | c.1809G>C | p.S603= | Synonymous | 4/22 | - | 1 |
17-76046952-G-T | c.1809G>T | p.S603= | Synonymous | 4/22 | - | 1 |
17-76046965-C-A | c.1822C>A | p.H608N | Missense | 4/22 | - | 1 |
17-76046972-G-A | c.1829G>A | p.G610E | Missense | 4/22 | - | 1 |
17-76046974-G-A | c.1831G>A | p.D611N | Missense | 4/22 | - | 1 |
17-76046975-A-G | c.1832A>G | p.D611G | Missense | 4/22 | - | 1 |
17-76046979-G-C | c.1836G>C | p.G612= | Synonymous | 4/22 | - | 1 |
17-76046979-G-GT | c.1836_1837insT | p.K613* | Nonsense | 4/22 | - | 1 |
17-76046980-A-G | c.1837A>G | p.K613E | Missense | 4/22 | - | 7 |
17-76046981-A-G | c.1838A>G | p.K613R | Missense | 4/22 | - | 1 |
17-76046982-A-AT | c.1839_1840insT | p.K614* | Nonsense | 4/22 | - | 2 |
17-76046985-A-AT | c.1842_1843insT | p.N615* | Nonsense | 4/22 | - | 4 |
17-76046985-A-T | c.1842A>T | p.K614N | Missense | 4/22 | - | 1 |
17-76046979-GA-G | c.1844del | p.N615Mfs*45 | Frameshift | 4/22 | - | 11 |
17-76046979-G-GA | c.1844dup | p.N615Kfs*8 | Frameshift | 4/22 | - | 3 |
17-76046987-AT-TG | c.1844_1845delinsTG | p.N615M | Missense | 4/22 | - | 1 |
17-76046989-G-T | c.1846G>T | p.G616* | Nonsense | 4/22 | - | 2 |
17-76046993-C-T | c.1850C>T | p.S617F | Missense | 4/22 | - | 1 |
17-76046995-GGA-TGG | c.1852_1854delinsTGG | p.G618W | Missense | 4/22 | - | 1 |
17-76047001-G-C | c.1858G>C | p.D620H | Missense | 4/22 | - | 1 |
17-76047009-C-T | c.1866C>T | p.D622= | Synonymous | 4/22 | - | 1 |
17-76047010-A-G | c.1867A>G | p.S623G | Missense | 4/22 | - | 1 |
17-76047010-AG-CT | c.1867_1868inv | p.S623L | Missense | 4/22 | - | 1 |
17-76047012-T-A | c.1869T>A | p.S623R | Missense | 4/22 | - | 1 |
17-76047016-AG-CC | c.1873_1874delinsCC | p.R625P | Missense | 4/22 | - | 1 |
17-76047017-G-A | c.1874G>A | p.R625K | Missense | 4/22 | - | 1 |
17-76047027-T-G | c.1884T>G | p.S628= | Synonymous | 4/22 | - | 1 |
17-76047032-G-A | c.1889G>A | p.W630* | Nonsense | 4/22 | - | 1 |
17-76047033-G-A | c.1890G>A | p.W630* | Nonsense | 4/22 | - | 1 |
17-76047050-C-A | c.1907C>A | p.S636Y | Missense | 4/22 | - | 1 |
17-76047052-G-A | c.1909G>A | p.G637R | Missense | 4/22 | - | 1 |
17-76047052-G-C | c.1909G>C | p.G637R | Missense | 4/22 | - | 1 |
17-76047063-C-A | c.1920C>A | p.G640= | Synonymous | 4/22 | - | 1 |
17-76047063-C-G | c.1920C>G | p.G640= | Synonymous | 4/22 | - | 1 |
17-76047063-C-T | c.1920C>T | p.G640= | Synonymous | 4/22 | - | 2 |
17-76047067-G-T | c.1924G>T | p.G642C | Missense | 4/22 | - | 1 |
17-76047070-A-G | c.1927A>G | p.N643D | Missense | 4/22 | - | 1 |
17-76047071-A-G | c.1928A>G | p.N643S | Missense | 4/22 | - | 1 |
17-76047076-A-G | c.1933A>G | p.T645A | Missense | 4/22 | - | 1 |
17-76047082-AC-GT | c.1939_1940inv | p.T647V | Missense | 4/22 | - | 1 |
17-76047083-C-T | c.1940C>T | p.T647I | Missense | 4/22 | - | 3 |
17-76047087-G-C | c.1944G>C | p.K648N | Missense | 4/22 | - | 1 |
17-76047087-G-T | c.1944G>T | p.K648N | Missense | 4/22 | - | 1 |
17-76047088-G-T | c.1945G>T | p.A649S | Missense | 4/22 | - | 1 |
17-76047105-C-G | c.1962C>G | p.N654K | Missense | 4/22 | - | 1 |
17-76047107-G-C | c.1964G>C | p.W655S | Missense | 4/22 | - | 1 |
17-76047111-G-T | c.1968G>T | p.G656= | Synonymous | 4/22 | - | 1 |
17-76047106-TG-T | c.1969del | p.E657Rfs*3 | Frameshift | 4/22 | - | 2 |
17-76047112-G-C | c.1969G>C | p.E657Q | Missense | 4/22 | - | 1 |
17-76047112-G-GA | c.1970dup | p.T658Dfs*12 | Frameshift | 4/22 | - | 1 |
17-76047113-A-T | c.1970A>T | p.E657V | Missense | 4/22 | - | 1 |
17-76047117-T-C | c.1974T>C | p.T658= | Synonymous | 4/22 | - | 1 |
17-76047118-T-C | c.1975T>C | p.L659= | Synonymous | 4/22 | - | 1 |
17-76047125-C-T | c.1982C>T | p.P661L | Missense | 4/22 | - | 1 |
17-76047128-G-A | c.1985G>A | p.G662D | Missense | 4/22 | - | 6 |
17-76047128-G-T | c.1985G>T | p.G662V | Missense | 4/22 | - | 1 |
17-76047135-A-G | c.1992A>G | p.Q664= | Synonymous | 4/22 | - | 1 |
17-76047136-C-A | c.1993C>A | p.Q665K | Missense | 4/22 | - | 1 |
17-76047146-C-T | c.2003C>T | p.A668V | Missense | 4/22 | - | 2 |
17-76047160-G-T | c.2017G>T | p.D673Y | Missense | 4/22 | - | 1 |
17-76047170-T-C | c.2027T>C | p.V676A | Missense | 4/22 | - | 1 |
17-76047173-G-A | c.2030G>A | p.S677N | Missense | 4/22 | - | 1 |
17-76047172-A-C | c.2029A>C | p.S677R | Missense | 4/22 | - | 2 |
17-76047174-T-A | c.2031T>A | p.S677R | Missense | 4/22 | - | 3 |
17-76047174-T-G | c.2031T>G | p.S677R | Missense | 4/22 | - | 2 |
17-76047177-C-A | c.2034C>A | p.N678K | Missense | 4/22 | - | 1 |
17-76047177-C-G | c.2034C>G | p.N678K | Missense | 4/22 | - | 1 |
17-76047190-G-A | c.2047G>A | p.A683T | Missense | 4/22 | - | 1 |
17-76047195-T-A | c.2052T>A | p.S684= | Synonymous | 4/22 | - | 1 |
17-76047195-T-C | c.2052T>C | p.S684= | Synonymous | 4/22 | - | 1 |
17-76047195-T-G | c.2052T>G | p.S684= | Synonymous | 4/22 | - | 1 |
17-76047196-G-A | c.2053G>A | p.V685M | Missense | 4/22 | - | 4 |
17-76047206-C-T | c.2063C>T | p.T688I | Missense | 4/22 | - | 1 |
17-76047215-G-C | c.2072G>C | p.G691A | Missense | 4/22 | - | 1 |
17-76047218-G-A | c.2075G>A | p.W692* | Nonsense | 4/22 | - | 1 |
17-76047219-G-A | c.2076G>A | p.W692* | Nonsense | 4/22 | - | 2 |
17-76047222-C-G | c.2079C>G | p.I693M | Missense | 4/22 | - | 1 |
17-76047222-C-T | c.2079C>T | p.I693= | Synonymous | 4/22 | - | 1 |
17-76047223-G-A | c.2080G>A | p.G694R | Missense | 4/22 | - | 2 |
17-76047223-G-C | c.2080G>C | p.G694R | Missense | 4/22 | - | 1 |
17-76047226-G-A | c.2083G>A | p.G695R | Missense | 4/22 | - | 2 |
17-76047226-G-C | c.2083G>C | p.G695R | Missense | 4/22 | - | 1 |
17-76047222-C-CG | c.2085dup | p.P696Afs*11 | Frameshift | 4/22 | - | 2 |
17-76047229-C-T | c.2086C>T | p.P696S | Missense | 4/22 | - | 1 |
17-76047249-G-A | c.2106G>A | p.K702= | Synonymous | 4/22 | - | 1 |
17-76047252-C-T | c.2109C>T | p.D703= | Synonymous | 4/22 | - | 1 |
17-76047256-A-G | c.2113A>G | p.S705G | Missense | 4/22 | - | 1 |
17-76047263-C-T | c.2120C>T | p.A707V | Missense | 4/22 | - | 1 |
17-76047269-G-T | c.2126G>T | p.G709V | Missense | 4/22 | - | 1 |
17-76047273-G-C | c.2130G>C | p.W710C | Missense | 4/22 | - | 2 |
17-76047273-G-T | c.2130G>T | p.W710C | Missense | 4/22 | - | 2 |
17-76047277-G-T | c.2134G>T | p.E712* | Nonsense | 4/22 | - | 1 |
17-76047282-C-A | c.2139C>A | p.P713= | Synonymous | 4/22 | - | 1 |
17-76047282-C-G | c.2139C>G | p.P713= | Synonymous | 4/22 | - | 1 |
17-76047282-C-T | c.2139C>T | p.P713= | Synonymous | 4/22 | - | 1 |
17-76047285-T-A | c.2142T>A | p.S714= | Synonymous | 4/22 | - | 1 |
17-76047285-T-C | c.2142T>C | p.S714= | Synonymous | 4/22 | - | 1 |
17-76047285-T-G | c.2142T>G | p.S714= | Synonymous | 4/22 | - | 1 |
17-76047295-CA-C | c.2152del | p.I718Ffs*25 | Frameshift | 4/22 | - | 1 |
17-76047298-C-T | c.2155C>T | p.R719C | Missense | 4/22 | - | 3 |
17-76047302-G-A | c.2159G>A | p.R720H | Missense | 4/22 | - | 2 |
17-76047303-C-A | c.2160C>A | p.R720= | Synonymous | 4/22 | - | 1 |
17-76047303-C-G | c.2160C>G | p.R720= | Synonymous | 4/22 | - | 1 |
17-76047303-C-T | c.2160C>T | p.R720= | Synonymous | 4/22 | - | 1 |
17-76047314-T-C | c.2171T>C | p.I724T | Missense | 4/22 | - | 1 |
17-76047316-G-C | c.2173G>C | p.D725H | Missense | 4/22 | - | 3 |
17-76047322-G-C | c.2179G>C | p.G727R | Missense | 4/22 | - | 1 |
17-76047332-C-T | c.2189C>T | p.A730V | Missense | 4/22 | - | 2 |
17-76047339-G-A | c.2196G>A | p.G732= | Synonymous | 4/22 | - | 1 |
17-76047339-G-C | c.2196G>C | p.G732= | Synonymous | 4/22 | - | 1 |
17-76047339-G-T | c.2196G>T | p.G732= | Synonymous | 4/22 | - | 1 |
17-76047334-TG-T | c.2197del | p.D733Tfs*10 | Frameshift | 4/22 | - | 2 |
17-76047344-C-T | c.2201C>T | p.P734L | Missense | 4/22 | - | 1 |
17-76047347-G-A | c.2204G>A | p.S735N | Missense | 4/22 | - | 1 |
17-76047351-C-A | c.2208C>A | p.N736K | Missense | 4/22 | - | 1 |
17-76047365-C-T | c.2222C>T | p.T741I | Missense | 4/22 | - | 1 |
17-76047372-C-A | c.2229C>A | p.N743K | Missense | 4/22 | - | 1 |
17-76047372-C-G | c.2229C>G | p.N743K | Missense | 4/22 | - | 1 |
17-76047372-C-T | c.2229C>T | p.N743= | Synonymous | 4/22 | - | 3 |
17-76047379-G-A | c.2236G>A | p.D746N | Missense | 4/22 | - | 3 |
17-76047386-A-T | c.2243A>T | p.N748I | Missense | 4/22 | - | 1 |
17-76047392-C-A | c.2249C>A | p.P750Q | Missense | 4/22 | - | 1 |
17-76047413-C-T | c.2270C>T | p.T757M | Missense | 4/22 | - | 1 |
17-76047423-C-T | c.2280C>T | p.T760= | Synonymous | 4/22 | - | 1 |
17-76047427-A-C | c.2284A>C | p.T762P | Missense | 4/22 | - | 1 |
17-76047427-A-G | c.2284A>G | p.T762A | Missense | 4/22 | - | 1 |
17-76047428-C-CA | c.2285_2286insA | p.T763Hfs*43 | Frameshift | 4/22 | - | 1 |
17-76047420-TACC-T | c.2295_2297del | p.T768del | InFrameDeletion | 4/22 | - | 5 |
17-76047438-C-T | c.2295C>T | p.T765= | Synonymous | 4/22 | - | 2 |
17-76047441-T-A | c.2298T>A | p.T766= | Synonymous | 4/22 | - | 3 |
17-76047441-T-C | c.2298T>C | p.T766= | Synonymous | 4/22 | - | 4 |
17-76047441-T-G | c.2298T>G | p.T766= | Synonymous | 4/22 | - | 3 |
17-76047443-C-T | c.2300C>T | p.T767I | Missense | 4/22 | - | 1 |
17-76047446-C-T | c.2303C>T | p.T768M | Missense | 4/22 | - | 2 |
17-76047465-G-A | c.2322G>A | p.R774= | Synonymous | 4/22 | - | 1 |
17-76047466-GTC-ATG | c.2323_2325delinsATG | p.V775M | Missense | 4/22 | - | 1 |
17-76047469-G-T | c.2326G>T | p.E776* | Nonsense | 4/22 | - | 1 |
17-76047474-G-A | c.2331G>A | p.T777= | Synonymous | 4/22 | - | 1 |
17-76047474-G-C | c.2331G>C | p.T777= | Synonymous | 4/22 | - | 1 |
17-76047474-G-T | c.2331G>T | p.T777= | Synonymous | 4/22 | - | 1 |
17-76047476-C-T | c.2333C>T | p.P778L | Missense | 4/22 | - | 1 |
17-76047477-G-A | c.2334G>A | p.P778= | Synonymous | 4/22 | - | 1 |
17-76047478-C-T | c.2335C>T | p.P779S | Missense | 4/22 | - | 1 |
17-76047480-C-A | c.2337C>A | p.P779= | Synonymous | 4/22 | - | 1 |
17-76047480-C-G | c.2337C>G | p.P779= | Synonymous | 4/22 | - | 1 |
17-76047480-C-T | c.2337C>T | p.P779= | Synonymous | 4/22 | - | 1 |
17-76047477-GC-G | c.2339del | p.P780Rfs*8 | Frameshift | 4/22 | - | 4 |
17-76047487-C-T | c.2344C>T | p.Q782* | Nonsense | 4/22 | - | 2 |
17-76047490-G-T | c.2347G>T | p.A783S | Missense | 4/22 | - | 1 |
17-76047492-C-A | c.2349C>A | p.A783= | Synonymous | 4/22 | - | 1 |
17-76047492-C-G | c.2349C>G | p.A783= | Synonymous | 4/22 | - | 1 |
17-76047492-C-T | c.2349C>T | p.A783= | Synonymous | 4/22 | - | 1 |
17-76047508-C-T | c.2365C>T | p.R789* | Nonsense | 4/22 | - | 1 |
17-76047509-G-A | c.2366G>A | p.R789Q | Missense | 4/22 | - | 1 |
17-76047513-A-C | c.2370A>C | p.S790= | Synonymous | 4/22 | - | 1 |
17-76047513-A-G | c.2370A>G | p.S790= | Synonymous | 4/22 | - | 1 |
17-76047513-A-T | c.2370A>T | p.S790= | Synonymous | 4/22 | - | 1 |
17-76047514-C-G | c.2371C>G | p.P791A | Missense | 4/22 | - | 2 |
17-76047524-G-C | c.2381G>C | p.G794A | Missense | 4/22 | - | 1 |
17-76047561-TAAAA-T | c.2386+47_2386+50del | - | IntronicDeletion | - | 4/21 | 1 |
17-76047561-TAAA-T | c.2386+48_2386+50del | - | IntronicDeletion | - | 4/21 | 2 |
17-76047561-TAA-T | c.2386+49_2386+50del | - | IntronicDeletion | - | 4/21 | 1 |
17-76047561-TA-T | c.2386+50del | - | IntronicDeletion | - | 4/21 | 1 |
17-76047561-T-TA | c.2386+50dup | - | IntronicInsertion | - | 4/21 | 1 |
17-76047612-G-A | c.2386+83G>A | - | IntronicSNV | - | 4/21 | 1 |
17-76051294-CT-C | c.2386+3774del | - | IntronicDeletion | - | 4/21 | 1 |
17-76060806-C-A | c.2390C>A | p.S797* | Nonsense | 5/22 | - | 1 |
17-76060808-T-A | c.2392T>A | p.S798T | Missense | 5/22 | - | 3 |
17-76060827-C-G | c.2411C>G | p.P804R | Missense | 5/22 | - | 1 |
17-76060832-G-A | c.2416G>A | p.V806I | Missense | 5/22 | - | 2 |
17-76060866-C-G | c.2450C>G | p.P817R | Missense | 5/22 | - | 12 |
17-76060869-C-T | c.2453C>T | p.S818F | Missense | 5/22 | - | 1 |
17-76060874-C-T | c.2458C>T | p.P820S | Missense | 5/22 | - | 3 |
17-76060875-C-G | c.2459C>G | p.P820R | Missense | 5/22 | - | 11 |
17-76060877-T-A | c.2461T>A | p.S821T | Missense | 5/22 | - | 1 |
17-76060882-C-T | c.2466C>T | p.T822= | Synonymous | 5/22 | - | 1 |
17-76060883-C-G | c.2467C>G | p.L823V | Missense | 5/22 | - | 2 |
17-76060891-T-C | c.2475T>C | p.D825= | Synonymous | 5/22 | - | 1 |
17-76060896-G-C | c.2480G>C | p.G827A | Missense | 5/22 | - | 1 |
17-76060902-C-T | c.2486C>T | p.A829V | Missense | 5/22 | - | 2 |
17-76060908-G-A | c.2492G>A | p.W831* | Nonsense | 5/22 | - | 2 |
17-76060909-G-A | c.2493G>A | p.W831* | Nonsense | 5/22 | - | 1 |
17-76060910-G-A | c.2494G>A | p.G832R | Missense | 5/22 | - | 1 |
17-76060929-G-A | c.2513G>A | p.G838D | Missense | 5/22 | - | 3 |
17-76060933-C-T | c.2517C>T | p.S839= | Synonymous | 5/22 | - | 1 |
17-76060940-G-A | c.2524G>A | p.G842R | Missense | 5/22 | - | 1 |
17-76060947-A-C | c.2531A>C | p.H844P | Missense | 5/22 | - | 3 |
17-76060947-A-G | c.2531A>G | p.H844R | Missense | 5/22 | - | 1 |
17-76060954-A-C | c.2538A>C | p.A846= | Synonymous | 5/22 | - | 5 |
17-76060954-A-T | c.2538A>T | p.A846= | Synonymous | 5/22 | - | 4 |
17-76060956-A-C | c.2540A>C | p.E847A | Missense | 5/22 | - | 1 |
17-76060964-G-A | c.2548G>A | p.V850M | Missense | 5/22 | - | 1 |
17-76060973-G-A | c.2557G>A | p.G853R | Missense | 5/22 | - | 3 |
17-76060983-G-C | c.2567G>C | p.G856A | Missense | 5/22 | - | 1 |
17-76060985-G-A | c.2569G>A | p.A857T | Missense | 5/22 | - | 1 |
17-76060994-G-A | c.2578G>A | p.A860T | Missense | 5/22 | - | 1 |
17-76061004-C-T | c.2588C>T | p.A863V | Missense | 5/22 | - | 1 |
17-76061006-C-T | c.2590C>T | p.L864= | Synonymous | 5/22 | - | 1 |
17-76061009-TG-AC | c.2593_2594delinsAC | p.C865T | Missense | 5/22 | - | 1 |
17-76061016-C-A | c.2600C>A | p.P867Q | Missense | 5/22 | - | 1 |
17-76061018-G-A | c.2602G>A | p.A868T | Missense | 5/22 | - | 1 |
17-76061018-G-T | c.2602G>T | p.A868S | Missense | 5/22 | - | 1 |
17-76061024-C-A | c.2602+6C>A | - | IntronicSNV | - | 5/21 | 1 |
17-76062423-GT-G | c.2603-1407del | - | IntronicDeletion | - | 5/21 | 1 |
17-76063842-A-C | c.2607A>C | p.S869= | Synonymous | 6/22 | - | 2 |
17-76063846-T-C | c.2611T>C | p.S871P | Missense | 6/22 | - | 1 |
17-76063847-C-A | c.2612C>A | p.S871Y | Missense | 6/22 | - | 2 |
17-76063847-C-T | c.2612C>T | p.S871F | Missense | 6/22 | - | 2 |
17-76063849-A-G | c.2614A>G | p.M872V | Missense | 6/22 | - | 1 |
17-76063855-G-A | c.2620G>A | p.E874K | Missense | 6/22 | - | 2 |
17-76063858-G-C | c.2623G>C | p.G875R | Missense | 6/22 | - | 1 |
17-76063864-G-A | c.2629G>A | p.G877S | Missense | 6/22 | - | 1 |
17-76063873-GGG-AGC | c.2638_2640delinsAGC | p.G880S | Missense | 6/22 | - | 1 |
17-76063876-G-A | c.2641G>A | p.D881N | Missense | 6/22 | - | 1 |
17-76063888-C-T | c.2653C>T | p.L885F | Missense | 6/22 | - | 1 |
17-76063895-C-G | c.2660C>G | p.T887S | Missense | 6/22 | - | 1 |
17-76063912-G-A | c.2677G>A | p.E893K | Missense | 6/22 | - | 1 |
17-76063917-A-C | c.2682A>C | p.E894D | Missense | 6/22 | - | 1 |
17-76063917-A-T | c.2682A>T | p.E894D | Missense | 6/22 | - | 1 |
17-76063945-C-T | c.2710C>T | p.Q904* | Nonsense | 6/22 | - | 2 |
17-76063953-C-T | c.2718C>T | p.S906= | Synonymous | 6/22 | - | 1 |
17-76063955-C-A | c.2720C>A | p.T907N | Missense | 6/22 | - | 1 |
17-76063968-C-T | c.2733C>T | p.S911= | Synonymous | 6/22 | - | 2 |
17-76063980-C-A | c.2745C>A | p.N915K | Missense | 6/22 | - | 1 |
17-76063980-C-G | c.2745C>G | p.N915K | Missense | 6/22 | - | 1 |
17-76063980-C-T | c.2745C>T | p.N915= | Synonymous | 6/22 | - | 1 |
17-76063981-G-A | c.2746G>A | p.A916T | Missense | 6/22 | - | 3 |
17-76063981-G-T | c.2746G>T | p.A916S | Missense | 6/22 | - | 1 |
17-76063986-CA-C | c.2757del | p.G920Dfs*6 | Frameshift | 6/22 | - | 1 |
17-76063986-C-CA | c.2757dup | p.G920Rfs*14 | Frameshift | 6/22 | - | 1 |
17-76063999-CA-C | c.2768del | p.K923Rfs*3 | Frameshift | 6/22 | - | 1 |
17-76064005-G-A | c.2769+1G>A | - | IntronicSNV | - | 6/21 | 1 |
17-76067175-A-G | c.2779A>G | p.T927A | Missense | 7/22 | - | 1 |
17-76067176-C-T | c.2780C>T | p.T927M | Missense | 7/22 | - | 2 |
17-76067184-A-G | c.2788A>G | p.K930E | Missense | 7/22 | - | 1 |
17-76067190-G-A | c.2794G>A | p.D932N | Missense | 7/22 | - | 1 |
17-76067196-G-A | c.2800G>A | p.A934T | Missense | 7/22 | - | 1 |
17-76067200-G-T | c.2804G>T | p.W935L | Missense | 7/22 | - | 1 |
17-76067203-T-C | c.2807T>C | p.I936T | Missense | 7/22 | - | 1 |
17-76067209-G-T | c.2813G>T | p.S938I | Missense | 7/22 | - | 1 |
17-76067217-A-C | c.2821A>C | p.I941L | Missense | 7/22 | - | 1 |
17-76067219-C-T | c.2823C>T | p.I941= | Synonymous | 7/22 | - | 1 |
17-76067220-A-T | c.2824A>T | p.K942* | Nonsense | 7/22 | - | 1 |
17-76067229-A-G | c.2833A>G | p.T945A | Missense | 7/22 | - | 1 |
17-76067232-G-A | c.2836G>A | p.D946N | Missense | 7/22 | - | 1 |
17-76067246-G-A | c.2850G>A | p.P950= | Synonymous | 7/22 | - | 3 |
17-76067285-C-G | c.2850+39C>G | - | IntronicSNV | - | 7/21 | 2 |
17-76067455-C-T | c.2850+209C>T | - | IntronicSNV | - | 7/21 | 1 |
17-76069121-G-T | c.2854G>T | p.E952* | Nonsense | 8/22 | - | 1 |
17-76069126-A-C | c.2859A>C | p.P953= | Synonymous | 8/22 | - | 2 |
17-76069126-A-G | c.2859A>G | p.P953= | Synonymous | 8/22 | - | 2 |
17-76069126-A-T | c.2859A>T | p.P953= | Synonymous | 8/22 | - | 2 |
17-76069128-C-T | c.2861C>T | p.A954V | Missense | 8/22 | - | 1 |
17-76069135-G-C | c.2868G>C | p.E956D | Missense | 8/22 | - | 1 |
17-76069135-G-T | c.2868G>T | p.E956D | Missense | 8/22 | - | 1 |
17-76069137-C-T | c.2870C>T | p.A957V | Missense | 8/22 | - | 1 |
17-76069173-T-A | c.2906T>A | p.M969K | Missense | 8/22 | - | 1 |
17-76071218-C-T | c.2910C>T | p.S970= | Synonymous | 9/22 | - | 1 |
17-76071219-G-T | c.2911G>T | p.A971S | Missense | 9/22 | - | 1 |
17-76071223-T-TA | c.2915_2916insA | p.L973Afs*18 | Frameshift | 9/22 | - | 1 |
17-76071222-C-T | c.2914C>T | p.L972= | Synonymous | 9/22 | - | 1 |
17-76071224-G-A | c.2916G>A | p.L972= | Synonymous | 9/22 | - | 1 |
17-76071224-G-C | c.2916G>C | p.L972= | Synonymous | 9/22 | - | 1 |
17-76071224-G-T | c.2916G>T | p.L972= | Synonymous | 9/22 | - | 1 |
17-76071234-A-T | c.2926A>T | p.K976* | Nonsense | 9/22 | - | 1 |
17-76071236-G-C | c.2928G>C | p.K976N | Missense | 9/22 | - | 1 |
17-76071243-G-A | c.2935G>A | p.V979M | Missense | 9/22 | - | 2 |
17-76071284-G-A | c.2976G>A | p.M992I | Missense | 9/22 | - | 1 |
17-76071288-G-A | c.2980G>A | p.A994T | Missense | 9/22 | - | 1 |
17-76071293-G-A | c.2985G>A | p.K995= | Synonymous | 9/22 | - | 1 |
17-76071299-C-A | c.2991C>A | p.L997= | Synonymous | 9/22 | - | 1 |
17-76071299-C-G | c.2991C>G | p.L997= | Synonymous | 9/22 | - | 1 |
17-76071299-C-T | c.2991C>T | p.L997= | Synonymous | 9/22 | - | 1 |
17-76071301-G-A | c.2993G>A | p.G998D | Missense | 9/22 | - | 2 |
17-76071306-C-T | c.2998C>T | p.R1000C | Missense | 9/22 | - | 1 |
17-76071307-G-C | c.2999G>C | p.R1000P | Missense | 9/22 | - | 2 |
17-76071310-C-T | c.3002C>T | p.P1001L | Missense | 9/22 | - | 1 |
17-76071318-TC-AA | c.3010_3011delinsAA | p.S1004N | Missense | 9/22 | - | 1 |
17-76071318-TC-CG | c.3010_3011delinsCG | p.S1004R | Missense | 9/22 | - | 1 |
17-76071319-C-CA | c.3011_3012insA | p.K1005Qfs*12 | Frameshift | 9/22 | - | 1 |
17-76071328-C-A | c.3020C>A | p.S1007Y | Missense | 9/22 | - | 1 |
17-76071330-TTC-T | c.3022_3023del | p.S1008Rfs*8 | Frameshift | 9/22 | - | 1 |
17-76071332-C-A | c.3024C>A | p.S1008= | Synonymous | 9/22 | - | 2 |
17-76071332-C-G | c.3024C>G | p.S1008= | Synonymous | 9/22 | - | 2 |
17-76071332-C-T | c.3024C>T | p.S1008= | Synonymous | 9/22 | - | 2 |
17-76071335-G-A | c.3027G>A | p.V1009= | Synonymous | 9/22 | - | 1 |
17-76071343-C-T | c.3035C>T | p.P1012L | Missense | 9/22 | - | 1 |
17-76071354-G-C | c.3046G>C | p.D1016H | Missense | 9/22 | - | 2 |
17-76071988-TA-T | c.3051+639del | - | IntronicDeletion | - | 9/21 | 1 |
17-76073269-G-C | c.3055G>C | p.G1019R | Missense | 10/22 | - | 2 |
17-76073284-G-A | c.3070G>A | p.E1024K | Missense | 10/22 | - | 2 |
17-76073294-C-G | c.3080C>G | p.P1027R | Missense | 10/22 | - | 1 |
17-76073294-C-T | c.3080C>T | p.P1027L | Missense | 10/22 | - | 1 |
17-76073297-C-T | c.3083C>T | p.S1028L | Missense | 10/22 | - | 2 |
17-76073300-C-T | c.3086C>T | p.P1029L | Missense | 10/22 | - | 1 |
17-76073301-G-A | c.3087G>A | p.P1029= | Synonymous | 10/22 | - | 1 |
17-76073308-C-T | c.3094C>T | p.P1032S | Missense | 10/22 | - | 2 |
17-76073313-C-A | c.3099C>A | p.S1033= | Synonymous | 10/22 | - | 1 |
17-76073313-C-G | c.3099C>G | p.S1033= | Synonymous | 10/22 | - | 1 |
17-76073313-C-T | c.3099C>T | p.S1033= | Synonymous | 10/22 | - | 1 |
17-76073314-C-T | c.3100C>T | p.P1034S | Missense | 10/22 | - | 1 |
17-76073326-GC-G | c.3112del | p.L1038Sfs*25 | Frameshift | 10/22 | - | 1 |
17-76073340-C-A | c.3126C>A | p.H1042Q | Missense | 10/22 | - | 1 |
17-76073341-A-AC | c.3127_3128insC | p.S1043Tfs*24 | Frameshift | 10/22 | - | 1 |
17-76073362-C-T | c.3148C>T | p.L1050= | Synonymous | 10/22 | - | 1 |
17-76073365-G-A | c.3151G>A | p.G1051S | Missense | 10/22 | - | 1 |
17-76073368-G-T | c.3154G>T | p.G1052W | Missense | 10/22 | - | 1 |
17-76073374-G-A | c.3160G>A | p.A1054T | Missense | 10/22 | - | 1 |
17-76073379-C-T | c.3165C>T | p.S1055= | Synonymous | 10/22 | - | 1 |
17-76073380-G-A | c.3166G>A | p.G1056R | Missense | 10/22 | - | 3 |
17-76073380-G-C | c.3166G>C | p.G1056R | Missense | 10/22 | - | 1 |
17-76073383-C-T | c.3169C>T | p.L1057= | Synonymous | 10/22 | - | 1 |
17-76073388-C-T | c.3174C>T | p.G1058= | Synonymous | 10/22 | - | 3 |
17-76073413-C-T | c.3199C>T | p.Q1067* | Nonsense | 10/22 | - | 1 |
17-76075489-A-G | c.3215A>G | p.N1072S | Missense | 11/22 | - | 1 |
17-76075490-T-A | c.3216T>A | p.N1072K | Missense | 11/22 | - | 1 |
17-76075495-G-A | c.3221G>A | p.G1074D | Missense | 11/22 | - | 1 |
17-76075505-C-A | c.3231C>A | p.G1077= | Synonymous | 11/22 | - | 1 |
17-76075505-C-G | c.3231C>G | p.G1077= | Synonymous | 11/22 | - | 1 |
17-76075505-C-T | c.3231C>T | p.G1077= | Synonymous | 11/22 | - | 1 |
17-76075524-G-A | c.3250G>A | p.A1084T | Missense | 11/22 | - | 1 |
17-76075543-C-T | c.3269C>T | p.P1090L | Missense | 11/22 | - | 2 |
17-76075545-C-T | c.3271C>T | p.P1091S | Missense | 11/22 | - | 1 |
17-76075554-C-T | c.3280C>T | p.P1094S | Missense | 11/22 | - | 1 |
17-76075562-G-C | c.3288G>C | p.Q1096H | Missense | 11/22 | - | 1 |
17-76075562-G-T | c.3288G>T | p.Q1096H | Missense | 11/22 | - | 1 |
17-76075564-C-T | c.3290C>T | p.P1097L | Missense | 11/22 | - | 1 |
17-76075575-T-A | c.3301T>A | p.S1101T | Missense | 11/22 | - | 1 |
17-76075587-C-G | c.3313C>G | p.L1105V | Missense | 11/22 | - | 1 |
17-76075591-G-A | c.3317G>A | p.R1106H | Missense | 11/22 | - | 1 |
17-76075600-T-C | c.3326T>C | p.V1109A | Missense | 11/22 | - | 1 |
17-76075606-A-G | c.3332A>G | p.Q1111R | Missense | 11/22 | - | 1 |
17-76075617-C-T | c.3343C>T | p.P1115S | Missense | 11/22 | - | 1 |
17-76075621-A-G | c.3347A>G | p.Q1116R | Missense | 11/22 | - | 1 |
17-76075622-G-C | c.3348G>C | p.Q1116H | Missense | 11/22 | - | 1 |
17-76075622-G-T | c.3348G>T | p.Q1116H | Missense | 11/22 | - | 1 |
17-76079138-A-T | c.3359A>T | p.Q1120L | Missense | 12/22 | - | 3 |
17-76079146-C-T | c.3367C>T | p.Q1123* | Nonsense | 12/22 | - | 1 |
17-76079147-A-T | c.3368A>T | p.Q1123L | Missense | 12/22 | - | 1 |
17-76079155-G-A | c.3376G>A | p.A1126T | Missense | 12/22 | - | 1 |
17-76079157-A-C | c.3378A>C | p.A1126= | Synonymous | 12/22 | - | 1 |
17-76079157-A-G | c.3378A>G | p.A1126= | Synonymous | 12/22 | - | 1 |
17-76079157-A-T | c.3378A>T | p.A1126= | Synonymous | 12/22 | - | 1 |
17-76079173-A-C | c.3394A>C | p.N1132H | Missense | 12/22 | - | 1 |
17-76079179-G-A | c.3400G>A | p.A1134T | Missense | 12/22 | - | 1 |
17-76079183-T-A | c.3404T>A | p.L1135Q | Missense | 12/22 | - | 1 |
17-76079192-C-A | c.3413C>A | p.S1138* | Nonsense | 12/22 | - | 1 |
17-76079193-G-A | c.3414G>A | p.S1138= | Synonymous | 12/22 | - | 1 |
17-76079193-G-C | c.3414G>C | p.S1138= | Synonymous | 12/22 | - | 1 |
17-76079193-G-T | c.3414G>T | p.S1138= | Synonymous | 12/22 | - | 1 |
17-76079194-C-T | c.3415C>T | p.P1139S | Missense | 12/22 | - | 1 |
17-76079201-A-G | c.3422A>G | p.N1141S | Missense | 12/22 | - | 1 |
17-76079202-T-C | c.3423T>C | p.N1141= | Synonymous | 12/22 | - | 2 |
17-76079208-A-G | c.3429A>G | p.Q1143= | Synonymous | 12/22 | - | 1 |
17-76079209-C-T | c.3430C>T | p.H1144Y | Missense | 12/22 | - | 2 |
17-76079212-A-G | c.3433A>G | p.M1145V | Missense | 12/22 | - | 1 |
17-76079214-G-T | c.3435G>T | p.M1145I | Missense | 12/22 | - | 1 |
17-76079217-G-A | c.3438G>A | p.T1146= | Synonymous | 12/22 | - | 1 |
17-76079217-G-C | c.3438G>C | p.T1146= | Synonymous | 12/22 | - | 1 |
17-76079217-G-T | c.3438G>T | p.T1146= | Synonymous | 12/22 | - | 1 |
17-76079227-C-T | c.3448C>T | p.Q1150* | Nonsense | 12/22 | - | 1 |
17-76079230-C-T | c.3451C>T | p.L1151F | Missense | 12/22 | - | 1 |
17-76079236-C-T | c.3457C>T | p.Q1153* | Nonsense | 12/22 | - | 2 |
17-76079238-G-T | c.3459G>T | p.Q1153H | Missense | 12/22 | - | 1 |
17-76082584-G-T | c.3469G>T | p.A1157S | Missense | 13/22 | - | 1 |
17-76082590-C-G | c.3475C>G | p.Q1159E | Missense | 13/22 | - | 1 |
17-76082594-G-A | c.3479G>A | p.R1160H | Missense | 13/22 | - | 2 |
17-76082594-G-T | c.3479G>T | p.R1160L | Missense | 13/22 | - | 1 |
17-76082614-A-T | c.3499A>T | p.M1167L | Missense | 13/22 | - | 1 |
17-76082626-C-G | c.3511C>G | p.Q1171E | Missense | 13/22 | - | 1 |
17-76082630-G-A | c.3515G>A | p.R1172H | Missense | 13/22 | - | 2 |
17-76082641-G-A | c.3526G>A | p.G1176R | Missense | 13/22 | - | 3 |
17-76082641-G-C | c.3526G>C | p.G1176R | Missense | 13/22 | - | 3 |
17-76082644-T-C | c.3529T>C | p.S1177P | Missense | 13/22 | - | 1 |
17-76082656-C-G | c.3541C>G | p.Q1181E | Missense | 13/22 | - | 1 |
17-76082666-A-G | c.3551A>G | p.Q1184R | Missense | 13/22 | - | 1 |
17-76082938-C-T | c.3557C>T | p.A1186V | Missense | 14/22 | - | 3 |
17-76082939-G-A | c.3558G>A | p.A1186= | Synonymous | 14/22 | - | 2 |
17-76082939-G-C | c.3558G>C | p.A1186= | Synonymous | 14/22 | - | 2 |
17-76082939-G-T | c.3558G>T | p.A1186= | Synonymous | 14/22 | - | 2 |
17-76082940-C-T | c.3559C>T | p.R1187C | Missense | 14/22 | - | 1 |
17-76082941-G-A | c.3560G>A | p.R1187H | Missense | 14/22 | - | 2 |
17-76082944-C-T | c.3563C>T | p.T1188I | Missense | 14/22 | - | 1 |
17-76082945-A-C | c.3564A>C | p.T1188= | Synonymous | 14/22 | - | 1 |
17-76082945-A-G | c.3564A>G | p.T1188= | Synonymous | 14/22 | - | 1 |
17-76082945-A-T | c.3564A>T | p.T1188= | Synonymous | 14/22 | - | 1 |
17-76082963-G-A | c.3582G>A | p.Q1194= | Synonymous | 14/22 | - | 1 |
17-76082964-C-A | c.3583C>A | p.Q1195K | Missense | 14/22 | - | 1 |
17-76082973-C-A | c.3592C>A | p.Q1198K | Missense | 14/22 | - | 1 |
17-76082974-A-G | c.3593A>G | p.Q1198R | Missense | 14/22 | - | 1 |
17-76082974-A-T | c.3593A>T | p.Q1198L | Missense | 14/22 | - | 1 |
17-76082978-C-T | c.3597C>T | p.H1199= | Synonymous | 14/22 | - | 1 |
17-76082981-G-T | c.3600G>T | p.Q1200H | Missense | 14/22 | - | 1 |
17-76082991-G-A | c.3610G>A | p.A1204T | Missense | 14/22 | - | 1 |
17-76082993-C-T | c.3612C>T | p.A1204= | Synonymous | 14/22 | - | 1 |
17-76082996-G-C | c.3615G>C | p.Q1205H | Missense | 14/22 | - | 1 |
17-76082996-G-T | c.3615G>T | p.Q1205H | Missense | 14/22 | - | 1 |
17-76082998-C-T | c.3617C>T | p.A1206V | Missense | 14/22 | - | 1 |
17-76083000-C-T | c.3619C>T | p.L1207= | Synonymous | 14/22 | - | 1 |
17-76083002-G-A | c.3621G>A | p.L1207= | Synonymous | 14/22 | - | 1 |
17-76083002-G-C | c.3621G>C | p.L1207= | Synonymous | 14/22 | - | 1 |
17-76083002-G-T | c.3621G>T | p.L1207= | Synonymous | 14/22 | - | 1 |
17-76083005-C-T | c.3624C>T | p.L1208= | Synonymous | 14/22 | - | 1 |
17-76083006-G-A | c.3625G>A | p.V1209M | Missense | 14/22 | - | 1 |
17-76083013-A-G | c.3632A>G | p.Q1211R | Missense | 14/22 | - | 1 |
17-76083017-A-C | c.3636A>C | p.P1212= | Synonymous | 14/22 | - | 1 |
17-76083017-A-G | c.3636A>G | p.P1212= | Synonymous | 14/22 | - | 1 |
17-76083017-A-T | c.3636A>T | p.P1212= | Synonymous | 14/22 | - | 1 |
17-76083022-C-T | c.3641C>T | p.P1214L | Missense | 14/22 | - | 1 |
17-76083023-G-A | c.3642G>A | p.P1214= | Synonymous | 14/22 | - | 3 |
17-76083023-G-C | c.3642G>C | p.P1214= | Synonymous | 14/22 | - | 3 |
17-76083023-G-T | c.3642G>T | p.P1214= | Synonymous | 14/22 | - | 1 |
17-76083027-C-T | c.3646C>T | p.P1216S | Missense | 14/22 | - | 1 |
17-76083028-C-T | c.3647C>T | p.P1216L | Missense | 14/22 | - | 2 |
17-76083029-CG-C | c.3648del | p.P1218Rfs*50 | Frameshift | 14/22 | - | 1 |
17-76083031-C-T | c.3650C>T | p.P1217L | Missense | 14/22 | - | 3 |
17-76083032-C-A | c.3651C>A | p.P1217= | Synonymous | 14/22 | - | 3 |
17-76083032-C-G | c.3651C>G | p.P1217= | Synonymous | 14/22 | - | 3 |
17-76083032-C-T | c.3651C>T | p.P1217= | Synonymous | 14/22 | - | 3 |
17-76083034-C-T | c.3653C>T | p.P1218L | Missense | 14/22 | - | 1 |
17-76083036-C-A | c.3655C>A | p.P1219T | Missense | 14/22 | - | 1 |
17-76083037-C-T | c.3656C>T | p.P1219L | Missense | 14/22 | - | 3 |
17-76083041-C-A | c.3660C>A | p.H1220Q | Missense | 14/22 | - | 3 |
17-76083046-C-G | c.3665C>G | p.S1222C | Missense | 14/22 | - | 1 |
17-76083048-C-G | c.3667C>G | p.L1223V | Missense | 14/22 | - | 3 |
17-76083048-C-T | c.3667C>T | p.L1223= | Synonymous | 14/22 | - | 1 |
17-76083050-G-A | c.3669G>A | p.L1223= | Synonymous | 14/22 | - | 1 |
17-76083050-G-C | c.3669G>C | p.L1223= | Synonymous | 14/22 | - | 1 |
17-76083050-G-T | c.3669G>T | p.L1223= | Synonymous | 14/22 | - | 1 |
17-76083051-C-T | c.3670C>T | p.H1224Y | Missense | 14/22 | - | 1 |
17-76083052-A-C | c.3671A>C | p.H1224P | Missense | 14/22 | - | 1 |
17-76083054-C-T | c.3673C>T | p.P1225S | Missense | 14/22 | - | 1 |
17-76083068-A-T | c.3687A>T | p.K1229N | Missense | 14/22 | - | 1 |
17-76083070-C-T | c.3689C>T | p.S1230L | Missense | 14/22 | - | 2 |
17-76083077-G-A | c.3696G>A | p.M1232I | Missense | 14/22 | - | 1 |
17-76083077-G-C | c.3696G>C | p.M1232I | Missense | 14/22 | - | 2 |
17-76083077-G-T | c.3696G>T | p.M1232I | Missense | 14/22 | - | 1 |
17-76083079-A-C | c.3698A>C | p.D1233A | Missense | 14/22 | - | 1 |
17-76083080-C-T | c.3699C>T | p.D1233= | Synonymous | 14/22 | - | 1 |
17-76083085-T-C | c.3704T>C | p.F1235S | Missense | 14/22 | - | 1 |
17-76083088-C-T | c.3707C>T | p.P1236L | Missense | 14/22 | - | 1 |
17-76083094-A-T | c.3713A>T | p.H1238L | Missense | 14/22 | - | 1 |
17-76083097-C-T | c.3716C>T | p.P1239L | Missense | 14/22 | - | 1 |
17-76083101-G-A | c.3720G>A | p.Q1240= | Synonymous | 14/22 | - | 1 |
17-76083110-C-T | c.3729C>T | p.G1243= | Synonymous | 14/22 | - | 1 |
17-76083140-G-A | c.3759G>A | p.Q1253= | Synonymous | 14/22 | - | 1 |
17-76083150-A-G | c.3769A>G | p.N1257D | Missense | 14/22 | - | 1 |
17-76083151-A-G | c.3770A>G | p.N1257S | Missense | 14/22 | - | 1 |
17-76083169-C-T | c.3788C>T | p.P1263L | Missense | 14/22 | - | 4 |
17-76087524-G-T | c.3797G>T | p.G1266V | Missense | 15/22 | - | 1 |
17-76087525-A-C | c.3798A>C | p.G1266= | Synonymous | 15/22 | - | 1 |
17-76087525-A-G | c.3798A>G | p.G1266= | Synonymous | 15/22 | - | 1 |
17-76087525-A-T | c.3798A>T | p.G1266= | Synonymous | 15/22 | - | 1 |
17-76087526-C-T | c.3799C>T | p.L1267= | Synonymous | 15/22 | - | 4 |
17-76087528-G-A | c.3801G>A | p.L1267= | Synonymous | 15/22 | - | 4 |
17-76087528-G-C | c.3801G>C | p.L1267= | Synonymous | 15/22 | - | 4 |
17-76087528-G-T | c.3801G>T | p.L1267= | Synonymous | 15/22 | - | 4 |
17-76087533-C-T | c.3806C>T | p.P1269L | Missense | 15/22 | - | 1 |
17-76087534-A-G | c.3807A>G | p.P1269= | Synonymous | 15/22 | - | 1 |
17-76087538-A-G | c.3811A>G | p.M1271V | Missense | 15/22 | - | 1 |
17-76087544-G-A | c.3817G>A | p.V1273I | Missense | 15/22 | - | 1 |
17-76087545-T-C | c.3818T>C | p.V1273A | Missense | 15/22 | - | 1 |
17-76087561-G-A | c.3834G>A | p.M1278I | Missense | 15/22 | - | 1 |
17-76087561-G-C | c.3834G>C | p.M1278I | Missense | 15/22 | - | 1 |
17-76087561-G-T | c.3834G>T | p.M1278I | Missense | 15/22 | - | 3 |
17-76087563-C-T | c.3836C>T | p.T1279I | Missense | 15/22 | - | 1 |
17-76087565-G-A | c.3838G>A | p.G1280S | Missense | 15/22 | - | 1 |
17-76087566-G-C | c.3839G>C | p.G1280A | Missense | 15/22 | - | 1 |
17-76087575-C-A | c.3848C>A | p.S1283* | Nonsense | 15/22 | - | 1 |
17-76087575-C-T | c.3848C>T | p.S1283L | Missense | 15/22 | - | 1 |
17-76087576-G-A | c.3849G>A | p.S1283= | Synonymous | 15/22 | - | 2 |
17-76087576-G-C | c.3849G>C | p.S1283= | Synonymous | 15/22 | - | 1 |
17-76087576-G-T | c.3849G>T | p.S1283= | Synonymous | 15/22 | - | 1 |
17-76087580-A-G | c.3853A>G | p.K1285E | Missense | 15/22 | - | 1 |
17-76087592-C-G | c.3865C>G | p.Q1289E | Missense | 15/22 | - | 1 |
17-76087600-G-C | c.3873G>C | p.Q1291H | Missense | 15/22 | - | 1 |
17-76087605-G-A | c.3878G>A | p.R1293H | Missense | 15/22 | - | 1 |
17-76087610-C-T | c.3883C>T | p.P1295S | Missense | 15/22 | - | 1 |
17-76087612-C-A | c.3885C>A | p.P1295= | Synonymous | 15/22 | - | 1 |
17-76087612-C-G | c.3885C>G | p.P1295= | Synonymous | 15/22 | - | 1 |
17-76087612-C-T | c.3885C>T | p.P1295= | Synonymous | 15/22 | - | 1 |
17-76087614-A-G | c.3887A>G | p.Q1296R | Missense | 15/22 | - | 1 |
17-76087620-C-T | c.3893C>T | p.T1298M | Missense | 15/22 | - | 2 |
17-76087622-C-G | c.3895C>G | p.H1299D | Missense | 15/22 | - | 1 |
17-76087626-C-G | c.3899C>G | p.P1300R | Missense | 15/22 | - | 3 |
17-76087631-T-G | c.3904T>G | p.S1302A | Missense | 15/22 | - | 1 |
17-76087642-C-T | c.3915C>T | p.N1305= | Synonymous | 15/22 | - | 1 |
17-76087645-G-A | c.3918G>A | p.L1306= | Synonymous | 15/22 | - | 1 |
17-76087656-C-T | c.3929C>T | p.A1310V | Missense | 15/22 | - | 1 |
17-76087659-C-T | c.3932C>T | p.S1311F | Missense | 15/22 | - | 3 |
17-76087661-C-T | c.3934C>T | p.P1312S | Missense | 15/22 | - | 2 |
17-76087667-G-A | c.3940G>A | p.E1314K | Missense | 15/22 | - | 1 |
17-76087679-A-G | c.3952A>G | p.S1318G | Missense | 15/22 | - | 1 |
17-76087683-A-G | c.3956A>G | p.K1319R | Missense | 15/22 | - | 1 |
17-76087688-G-A | c.3961G>A | p.G1321S | Missense | 15/22 | - | 1 |
17-76087754-A-G | c.3961+66A>G | - | IntronicSNV | - | 15/21 | 1 |
17-76089016-G-A | c.3964G>A | p.A1322T | Missense | 16/22 | - | 1 |
17-76089021-C-T | c.3969C>T | p.I1323= | Synonymous | 16/22 | - | 1 |
17-76089037-A-C | c.3985A>C | p.I1329L | Missense | 16/22 | - | 1 |
17-76089041-GG-AC | c.3989_3990delinsAC | p.G1330D | Missense | 16/22 | - | 1 |
17-76089055-TC-AA | c.4003_4004delinsAA | p.S1335N | Missense | 16/22 | - | 1 |
17-76089061-A-G | c.4009A>G | p.I1337V | Missense | 16/22 | - | 1 |
17-76089064-G-A | c.4012G>A | p.D1338N | Missense | 16/22 | - | 1 |
17-76089064-G-T | c.4012G>T | p.D1338Y | Missense | 16/22 | - | 1 |
17-76089072-C-A | c.4020C>A | p.S1340= | Synonymous | 16/22 | - | 1 |
17-76089072-C-G | c.4020C>G | p.S1340= | Synonymous | 16/22 | - | 1 |
17-76089072-C-T | c.4020C>T | p.S1340= | Synonymous | 16/22 | - | 1 |
17-76089075-T-C | c.4023T>C | p.Y1341= | Synonymous | 16/22 | - | 1 |
17-76089077-G-C | c.4025G>C | p.G1342A | Missense | 16/22 | - | 1 |
17-76089080-G-T | c.4028G>T | p.R1343L | Missense | 16/22 | - | 1 |
17-76089093-C-A | c.4041C>A | p.I1347= | Synonymous | 16/22 | - | 1 |
17-76089093-C-T | c.4041C>T | p.I1347= | Synonymous | 16/22 | - | 2 |
17-76089097-A-C | c.4045A>C | p.N1349H | Missense | 16/22 | - | 1 |
17-76089108-A-C | c.4056A>C | p.S1352= | Synonymous | 16/22 | - | 1 |
17-76089108-A-G | c.4056A>G | p.S1352= | Synonymous | 16/22 | - | 1 |
17-76089108-A-T | c.4056A>T | p.S1352= | Synonymous | 16/22 | - | 1 |
17-76089117-T-C | c.4065T>C | p.S1355= | Synonymous | 16/22 | - | 2 |
17-76089122-C-T | c.4070C>T | p.P1357L | Missense | 16/22 | - | 2 |
17-76089127-G-C | c.4075G>C | p.A1359P | Missense | 16/22 | - | 2 |
17-76089135-C-A | c.4083C>A | p.P1361= | Synonymous | 16/22 | - | 1 |
17-76089135-C-G | c.4083C>G | p.P1361= | Synonymous | 16/22 | - | 1 |
17-76089135-C-T | c.4083C>T | p.P1361= | Synonymous | 16/22 | - | 1 |
17-76089143-G-A | c.4091G>A | p.W1364* | Nonsense | 16/22 | - | 3 |
17-76089144-G-A | c.4092G>A | p.W1364* | Nonsense | 16/22 | - | 5 |
17-76089149-G-A | c.4097G>A | p.R1366H | Missense | 16/22 | - | 4 |
17-76089158-C-T | c.4106C>T | p.S1369F | Missense | 16/22 | - | 1 |
17-76089164-G-A | c.4112G>A | p.S1371N | Missense | 16/22 | - | 1 |
17-76089171-A-G | c.4119A>G | p.K1373= | Synonymous | 16/22 | - | 1 |
17-76089174-C-G | c.4122C>G | p.I1374M | Missense | 16/22 | - | 1 |
17-76089176-C-T | c.4124C>T | p.S1375L | Missense | 16/22 | - | 1 |
17-76089183-C-A | c.4131C>A | p.G1377= | Synonymous | 16/22 | - | 1 |
17-76089183-C-G | c.4131C>G | p.G1377= | Synonymous | 16/22 | - | 1 |
17-76089184-TC-CT | c.4132_4133delinsCT | p.S1378L | Missense | 16/22 | - | 1 |
17-76089186-T-A | c.4134T>A | p.S1378= | Synonymous | 16/22 | - | 1 |
17-76089186-T-C | c.4134T>C | p.S1378= | Synonymous | 16/22 | - | 1 |
17-76089186-T-G | c.4134T>G | p.S1378= | Synonymous | 16/22 | - | 1 |
17-76089187-A-G | c.4135A>G | p.S1379G | Missense | 16/22 | - | 1 |
17-76089194-A-T | c.4142A>T | p.N1381I | Missense | 16/22 | - | 1 |
17-76089202-C-T | c.4150C>T | p.P1384S | Missense | 16/22 | - | 1 |
17-76089205-G-C | c.4153G>C | p.E1385Q | Missense | 16/22 | - | 2 |
17-76089701-A-G | c.4154A>G | p.E1385G | Missense | 17/22 | - | 1 |
17-76089706-C-G | c.4159C>G | p.H1387D | Missense | 17/22 | - | 1 |
17-76089706-C-T | c.4159C>T | p.H1387Y | Missense | 17/22 | - | 3 |
17-76089715-G-C | c.4168G>C | p.V1390L | Missense | 17/22 | - | 1 |
17-76089718-C-T | c.4171C>T | p.P1391S | Missense | 17/22 | - | 2 |
17-76089719-C-T | c.4172C>T | p.P1391L | Missense | 17/22 | - | 1 |
17-76089746-C-A | c.4199C>A | p.P1400H | Missense | 17/22 | - | 1 |
17-76089749-A-T | c.4202A>T | p.E1401V | Missense | 17/22 | - | 1 |
17-76089750-G-A | c.4203G>A | p.E1401= | Synonymous | 17/22 | - | 1 |
17-76089758-C-T | c.4211C>T | p.P1404L | Missense | 17/22 | - | 1 |
17-76089763-G-A | c.4216G>A | p.V1406I | Missense | 17/22 | - | 1 |
17-76089772-G-A | c.4225G>A | p.G1409S | Missense | 17/22 | - | 2 |
17-76089773-G-A | c.4226G>A | p.G1409D | Missense | 17/22 | - | 2 |
17-76089794-C-T | c.4247C>T | p.T1416I | Missense | 17/22 | - | 1 |
17-76089795-C-A | c.4248C>A | p.T1416= | Synonymous | 17/22 | - | 2 |
17-76089795-C-G | c.4248C>G | p.T1416= | Synonymous | 17/22 | - | 2 |
17-76089795-C-T | c.4248C>T | p.T1416= | Synonymous | 17/22 | - | 2 |
17-76089798-C-A | c.4251C>A | p.I1417= | Synonymous | 17/22 | - | 1 |
17-76089798-C-T | c.4251C>T | p.I1417= | Synonymous | 17/22 | - | 2 |
17-76089803-C-T | c.4256C>T | p.T1419I | Missense | 17/22 | - | 1 |
17-76089812-A-T | c.4265A>T | p.Q1422L | Missense | 17/22 | - | 1 |
17-76089821-A-G | c.4274A>G | p.N1425S | Missense | 17/22 | - | 1 |
17-76089823-C-T | c.4276C>T | p.R1426C | Missense | 17/22 | - | 1 |
17-76093833-C-A | c.4305C>A | p.S1435= | Synonymous | 18/22 | - | 1 |
17-76093836-G-A | c.4308G>A | p.P1436= | Synonymous | 18/22 | - | 1 |
17-76093836-G-C | c.4308G>C | p.P1436= | Synonymous | 18/22 | - | 1 |
17-76093836-G-T | c.4308G>T | p.P1436= | Synonymous | 18/22 | - | 1 |
17-76093837-C-T | c.4309C>T | p.P1437S | Missense | 18/22 | - | 1 |
17-76093846-C-G | c.4318C>G | p.Q1440E | Missense | 18/22 | - | 1 |
17-76093846-C-T | c.4318C>T | p.Q1440* | Nonsense | 18/22 | - | 1 |
17-76093847-A-T | c.4319A>T | p.Q1440L | Missense | 18/22 | - | 1 |
17-76093865-C-T | c.4337C>T | p.S1446F | Missense | 18/22 | - | 2 |
17-76093866-T-A | c.4338T>A | p.S1446= | Synonymous | 18/22 | - | 1 |
17-76093866-T-C | c.4338T>C | p.S1446= | Synonymous | 18/22 | - | 10 |
17-76093866-T-G | c.4338T>G | p.S1446= | Synonymous | 18/22 | - | 1 |
17-76093868-C-T | c.4340C>T | p.S1447L | Missense | 18/22 | - | 1 |
17-76093873-G-T | c.4345G>T | p.A1449S | Missense | 18/22 | - | 2 |
17-76093893-C-A | c.4365C>A | p.S1455= | Synonymous | 18/22 | - | 1 |
17-76093893-C-G | c.4365C>G | p.S1455= | Synonymous | 18/22 | - | 1 |
17-76093893-C-T | c.4365C>T | p.S1455= | Synonymous | 18/22 | - | 1 |
17-76093909-T-C | c.4381T>C | p.F1461L | Missense | 18/22 | - | 1 |
17-76093911-C-A | c.4383C>A | p.F1461L | Missense | 18/22 | - | 1 |
17-76093911-C-G | c.4383C>G | p.F1461L | Missense | 18/22 | - | 1 |
17-76093921-G-A | c.4393G>A | p.A1465T | Missense | 18/22 | - | 1 |
17-76093925-C-T | c.4397C>T | p.S1466F | Missense | 18/22 | - | 1 |
17-76093927-G-A | c.4399G>A | p.A1467T | Missense | 18/22 | - | 1 |
17-76093933-A-G | c.4405A>G | p.S1469G | Missense | 18/22 | - | 1 |
17-76094111-C-T | c.4414+169C>T | - | IntronicSNV | - | 18/21 | 2 |
17-76094436-A-T | c.4427A>T | p.D1476V | Missense | 19/22 | - | 1 |
17-76094449-G-A | c.4440G>A | p.T1480= | Synonymous | 19/22 | - | 1 |
17-76094453-GT-G | c.4444del | p.S1482Pfs*33 | Frameshift | 19/22 | - | 1 |
17-76094457-C-T | c.4448C>T | p.S1483F | Missense | 19/22 | - | 2 |
17-76094463-C-T | c.4454C>T | p.P1485L | Missense | 19/22 | - | 3 |
17-76094465-A-G | c.4456A>G | p.T1486A | Missense | 19/22 | - | 1 |
17-76094469-C-T | c.4460C>T | p.S1487F | Missense | 19/22 | - | 2 |
17-76094475-C-A | c.4466C>A | p.T1489K | Missense | 19/22 | - | 2 |
17-76094475-C-T | c.4466C>T | p.T1489M | Missense | 19/22 | - | 1 |
17-76094482-C-A | c.4473C>A | p.A1491= | Synonymous | 19/22 | - | 1 |
17-76094486-C-T | c.4477C>T | p.L1493= | Synonymous | 19/22 | - | 1 |
17-76094488-G-A | c.4479G>A | p.L1493= | Synonymous | 19/22 | - | 1 |
17-76094488-G-C | c.4479G>C | p.L1493= | Synonymous | 19/22 | - | 1 |
17-76094488-G-T | c.4479G>T | p.L1493= | Synonymous | 19/22 | - | 1 |
17-76094497-A-G | c.4488A>G | p.E1496= | Synonymous | 19/22 | - | 1 |
17-76094498-C-T | c.4489C>T | p.L1497= | Synonymous | 19/22 | - | 1 |
17-76094500-A-C | c.4491A>C | p.L1497= | Synonymous | 19/22 | - | 1 |
17-76094500-A-G | c.4491A>G | p.L1497= | Synonymous | 19/22 | - | 1 |
17-76094500-A-T | c.4491A>T | p.L1497= | Synonymous | 19/22 | - | 1 |
17-76094501-T-A | c.4492T>A | p.W1498R | Missense | 19/22 | - | 1 |
17-76094502-G-A | c.4493G>A | p.W1498* | Nonsense | 19/22 | - | 1 |
17-76094503-G-A | c.4494G>A | p.W1498* | Nonsense | 19/22 | - | 1 |
17-76094509-G-A | c.4500G>A | p.V1500= | Synonymous | 19/22 | - | 2 |
17-76094514-G-A | c.4505G>A | p.R1502K | Missense | 19/22 | - | 1 |
17-76094524-T-A | c.4515T>A | p.T1505= | Synonymous | 19/22 | - | 1 |
17-76094524-T-C | c.4515T>C | p.T1505= | Synonymous | 19/22 | - | 1 |
17-76094524-T-G | c.4515T>G | p.T1505= | Synonymous | 19/22 | - | 1 |
17-76094525-G-A | c.4516G>A | p.A1506T | Missense | 19/22 | - | 1 |
17-76094531-A-G | c.4522A>G | p.T1508A | Missense | 19/22 | - | 1 |
17-76094535-G-T | c.4526G>T | p.R1509M | Missense | 19/22 | - | 1 |
17-76094534-A-C | c.4525A>C | p.R1509= | Synonymous | 19/22 | - | 1 |
17-76094536-G-A | c.4527G>A | p.R1509= | Synonymous | 19/22 | - | 1 |
17-76094542-T-A | c.4533T>A | p.P1511= | Synonymous | 19/22 | - | 1 |
17-76094542-T-C | c.4533T>C | p.P1511= | Synonymous | 19/22 | - | 1 |
17-76094542-T-G | c.4533T>G | p.P1511= | Synonymous | 19/22 | - | 1 |
17-76094543-C-T | c.4534C>T | p.P1512S | Missense | 19/22 | - | 1 |
17-76094547-G-A | c.4538G>A | p.G1513E | Missense | 19/22 | - | 1 |
17-76094547-G-C | c.4538G>C | p.G1513A | Missense | 19/22 | - | 1 |
17-76094559-C-T | c.4550C>T | p.P1517L | Missense | 19/22 | - | 1 |
17-76094564-C-T | c.4555C>T | p.P1519S | Missense | 19/22 | - | 1 |
17-76094567-T-G | c.4558T>G | p.S1520A | Missense | 19/22 | - | 1 |
17-76094571-C-T | c.4562C>T | p.S1521F | Missense | 19/22 | - | 1 |
17-76094584-C-A | c.4575C>A | p.A1525= | Synonymous | 19/22 | - | 1 |
17-76094588-C-G | c.4579C>G | p.P1527A | Missense | 19/22 | - | 1 |
17-76094594-G-A | c.4585G>A | p.G1529S | Missense | 19/22 | - | 4 |
17-76094607-C-A | c.4598C>A | p.S1533Y | Missense | 19/22 | - | 1 |
17-76098555-G-A | c.4610G>A | p.G1537D | Missense | 20/22 | - | 2 |
17-76098560-G-T | c.4615G>T | p.A1539S | Missense | 20/22 | - | 1 |
17-76098563-T-TGAGGTGTC | c.4619_4620insAGGTGTCG | p.W1540* | Nonsense | 20/22 | - | 1 |
17-76098572-G-A | c.4627G>A | p.D1543N | Missense | 20/22 | - | 3 |
17-76098577-C-A | c.4632C>A | p.T1544= | Synonymous | 20/22 | - | 1 |
17-76098579-CA-TT | c.4634_4635delinsTT | p.S1545F | Missense | 20/22 | - | 1 |
17-76098590-AG-CT | c.4645_4646inv | p.S1549L | Missense | 20/22 | - | 1 |
17-76098591-G-A | c.4646G>A | p.S1549N | Missense | 20/22 | - | 1 |
17-76098608-CGA-TGG | c.4663_4665delinsTGG | p.R1555W | Missense | 20/22 | - | 1 |
17-76098608-C-T | c.4663C>T | p.R1555* | Nonsense | 20/22 | - | 1 |
17-76098609-G-A | c.4664G>A | p.R1555Q | Missense | 20/22 | - | 1 |
17-76098618-C-T | c.4673C>T | p.T1558I | Missense | 20/22 | - | 1 |
17-76098621-C-T | c.4676C>T | p.P1559L | Missense | 20/22 | - | 1 |
17-76098719-A-G | c.4680+94A>G | - | IntronicSNV | - | 20/21 | 2 |
17-76099517-C-T | c.4703C>T | p.T1568I | Missense | 21/22 | - | 2 |
17-76099531-C-A | c.4717C>A | p.H1573N | Missense | 21/22 | - | 1 |
17-76099535-G-A | c.4721G>A | p.G1574E | Missense | 21/22 | - | 1 |
17-76099536-G-T | c.4722G>T | p.G1574= | Synonymous | 21/22 | - | 1 |
17-76099553-A-T | c.4739A>T | p.H1580L | Missense | 21/22 | - | 1 |
17-76099554-C-A | c.4740C>A | p.H1580Q | Missense | 21/22 | - | 1 |
17-76099570-AGGC-A | c.4756_4758del | p.G1586del | InFrameDeletion | 21/22 | - | 1 |
17-76099585-C-T | c.4771C>T | p.R1591W | Missense | 21/22 | - | 2 |
17-76099586-G-A | c.4772G>A | p.R1591Q | Missense | 21/22 | - | 1 |
17-76099595-C-T | c.4781C>T | p.S1594F | Missense | 21/22 | - | 1 |
17-76099610-C-T | c.4796C>T | p.A1599V | Missense | 21/22 | - | 1 |
17-76099613-A-G | c.4799A>G | p.K1600R | Missense | 21/22 | - | 1 |
17-76099614-G-C | c.4800G>C | p.K1600N | Missense | 21/22 | - | 1 |
17-76099614-G-T | c.4800G>T | p.K1600N | Missense | 21/22 | - | 1 |
17-76099630-C-T | c.4816C>T | p.H1606Y | Missense | 21/22 | - | 1 |
17-76099632-C-A | c.4818C>A | p.H1606Q | Missense | 21/22 | - | 1 |
17-76099632-C-G | c.4818C>G | p.H1606Q | Missense | 21/22 | - | 1 |
17-76100570-G-A | c.4825G>A | p.V1609I | Missense | 22/22 | - | 1 |
17-76100578-A-C | c.4833A>C | p.G1611= | Synonymous | 22/22 | - | 1 |
17-76100578-A-G | c.4833A>G | p.G1611= | Synonymous | 22/22 | - | 1 |
17-76100578-A-T | c.4833A>T | p.G1611= | Synonymous | 22/22 | - | 1 |
17-76100603-G-A | c.4858G>A | p.A1620T | Missense | 22/22 | - | 1 |
17-76100606-G-C | c.4861G>C | p.G1621R | Missense | 22/22 | - | 1 |
17-76100609-G-A | c.4864G>A | p.E1622K | Missense | 22/22 | - | 1 |
17-76100626-C-A | c.4881C>A | p.R1627= | Synonymous | 22/22 | - | 1 |
17-76100626-C-G | c.4881C>G | p.R1627= | Synonymous | 22/22 | - | 1 |
17-76100626-C-T | c.4881C>T | p.R1627= | Synonymous | 22/22 | - | 1 |
17-76100629-C-T | c.4884C>T | p.F1628= | Synonymous | 22/22 | - | 1 |
17-76100633-G-A | c.4888G>A | p.A1630T | Missense | 22/22 | - | 1 |
17-76100633-G-T | c.4888G>T | p.A1630S | Missense | 22/22 | - | 1 |
17-76100654-C-T | c.4909C>T | p.P1637S | Missense | 22/22 | - | 1 |
17-76100658-C-T | c.4913C>T | p.T1638I | Missense | 22/22 | - | 2 |
17-76100673-C-T | c.4928C>T | p.S1643F | Missense | 22/22 | - | 1 |
17-76100675-A-G | c.4930A>G | p.S1644G | Missense | 22/22 | - | 2 |
17-76100679-G-A | c.4934G>A | p.S1645N | Missense | 22/22 | - | 1 |
17-76100681-G-A | c.4936G>A | p.A1646T | Missense | 22/22 | - | 1 |
17-76100682-C-T | c.4937C>T | p.A1646V | Missense | 22/22 | - | 2 |
17-76100688-G-A | c.4943G>A | p.S1648N | Missense | 22/22 | - | 1 |
17-76100690-C-G | c.4945C>G | p.Q1649E | Missense | 22/22 | - | 1 |
17-76100690-C-T | c.4945C>T | p.Q1649* | Nonsense | 22/22 | - | 1 |
17-76100693-C-T | c.4948C>T | p.P1650S | Missense | 22/22 | - | 2 |
17-76100709-C-T | c.4964C>T | p.A1655V | Missense | 22/22 | - | 1 |
17-76100714-A-G | c.4969A>G | p.S1657G | Missense | 22/22 | - | 1 |
17-76100722-T-C | c.4977T>C | p.H1659= | Synonymous | 22/22 | - | 1 |
17-76100728-G-A | c.4983G>A | p.L1661= | Synonymous | 22/22 | - | 1 |
17-76100732-C-A | c.4987C>A | p.R1663S | Missense | 22/22 | - | 1 |
17-76100734-C-A | c.4989C>A | p.R1663= | Synonymous | 22/22 | - | 1 |
17-76100734-C-G | c.4989C>G | p.R1663= | Synonymous | 22/22 | - | 1 |
17-76100734-C-T | c.4989C>T | p.R1663= | Synonymous | 22/22 | - | 1 |
17-76100737-C-T | c.4992C>T | p.S1664= | Synonymous | 22/22 | - | 1 |
17-76100741-G-A | c.4996G>A | p.A1666T | Missense | 22/22 | - | 1 |
17-76100742-C-T | c.4997C>T | p.A1666V | Missense | 22/22 | - | 1 |
17-76100756-G-A | c.5011G>A | p.A1671T | Missense | 22/22 | - | 1 |
17-76100764-C-T | c.5019C>T | p.C1673= | Synonymous | 22/22 | - | 1 |
17-76100778-G-A | c.5033G>A | p.G1678E | Missense | 22/22 | - | 2 |
17-76100779-G-A | c.5034G>A | p.G1678= | Synonymous | 22/22 | - | 1 |
17-76100783-A-G | c.5038A>G | p.S1680G | Missense | 22/22 | - | 2 |
17-76100786-G-C | c.5041G>C | p.E1681Q | Missense | 22/22 | - | 1 |
17-76100799-G-A | c.5054G>A | p.G1685D | Missense | 22/22 | - | 1 |
17-76100800-C-A | c.5055C>A | p.G1685= | Synonymous | 22/22 | - | 1 |
17-76100800-C-G | c.5055C>G | p.G1685= | Synonymous | 22/22 | - | 1 |
17-76100800-C-T | c.5055C>T | p.G1685= | Synonymous | 22/22 | - | 2 |
17-76100801-G-T | c.5056G>T | p.G1686W | Missense | 22/22 | - | 1 |
17-76100806-G-C | c.5061G>C | p.V1687= | Synonymous | 22/22 | - | 1 |
17-76100812-G-A | c.5067G>A | p.Q1689= | Synonymous | 22/22 | - | 1 |
17-76100818-C-A | c.5073C>A | p.S1691= | Synonymous | 22/22 | - | 2 |
17-76100818-C-G | c.5073C>G | p.S1691= | Synonymous | 22/22 | - | 2 |
17-76100818-C-T | c.5073C>T | p.S1691= | Synonymous | 22/22 | - | 2 |
17-76100822-A-G | c.5077A>G | p.S1693G | Missense | 22/22 | - | 1 |
17-76100833-C-T | c.5088C>T | p.G1696= | Synonymous | 22/22 | - | 1 |
17-76100842-C-T | c.5097C>T | p.S1699= | Synonymous | 22/22 | - | 1 |
17-76100855-AG-CA | c.5110_5111delinsCA | p.R1704Q | Missense | 22/22 | - | 1 |
17-76100865-G-C | c.5120G>C | p.G1707A | Missense | 22/22 | - | 1 |
17-76100867-A-G | c.5122A>G | p.S1708G | Missense | 22/22 | - | 1 |
17-76100875-G-A | c.5130G>A | p.T1710= | Synonymous | 22/22 | - | 1 |
17-76100875-G-C | c.5130G>C | p.T1710= | Synonymous | 22/22 | - | 1 |
17-76100875-G-T | c.5130G>T | p.T1710= | Synonymous | 22/22 | - | 1 |
17-76100895-C-T | c.5150C>T | p.P1717L | Missense | 22/22 | - | 1 |
17-76100900-G-T | c.5155G>T | p.D1719Y | Missense | 22/22 | - | 1 |
17-76100904-T-A | c.5159T>A | p.L1720Q | Missense | 22/22 | - | 1 |
17-76100919-C-T | c.5174C>T | p.S1725F | Missense | 22/22 | - | 2 |
17-76100923-G-A | c.5178G>A | p.L1726= | Synonymous | 22/22 | - | 1 |