Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
14-71374330-T-C | c.-238T>C | - | 5-UTRSNV | 1/36 | - | 2 |
14-71374562-G-C | c.-6G>C | - | 5-UTRSNV | 1/36 | - | 6 |
14-71374568-A-T | c.1A>T | p.M1? | Missense | 1/36 | - | 1 |
14-71374574-T-G | c.7T>G | p.S3A | Missense | 1/36 | - | 1 |
14-71374592-C-G | c.25C>G | p.L9V | Missense | 1/36 | - | 1 |
14-71374595-C-T | c.28C>T | p.R10* | Nonsense | 1/36 | - | 1 |
14-71374606-G-A | c.39G>A | p.V13= | Synonymous | 1/36 | - | 1 |
14-71374606-G-C | c.39G>C | p.V13= | Synonymous | 1/36 | - | 1 |
14-71374606-G-T | c.39G>T | p.V13= | Synonymous | 1/36 | - | 1 |
14-71374608-G-A | c.41G>A | p.W14* | Nonsense | 1/36 | - | 1 |
14-71374610-G-A | c.43G>A | p.A15T | Missense | 1/36 | - | 2 |
14-71374610-G-C | c.43G>C | p.A15P | Missense | 1/36 | - | 1 |
14-71374610-GC-AT | c.43_44delinsAT | p.A15I | Missense | 1/36 | - | 1 |
14-71374610-GCC-AAG | c.43_45delinsAAG | p.A15K | Missense | 1/36 | - | 1 |
14-71374610-GCC-ATG | c.43_45delinsATG | p.A15M | Missense | 1/36 | - | 1 |
14-71374610-GC-CG | c.43_44delinsCG | p.A15R | Missense | 1/36 | - | 1 |
14-71374610-GC-CT | c.43_44delinsCT | p.A15L | Missense | 1/36 | - | 1 |
14-71374610-GC-TG | c.43_44delinsTG | p.A15C | Missense | 1/36 | - | 1 |
14-71374610-GC-TT | c.43_44delinsTT | p.A15F | Missense | 1/36 | - | 1 |
14-71374610-G-T | c.43G>T | p.A15S | Missense | 1/36 | - | 1 |
14-71374611-C-A | c.44C>A | p.A15D | Missense | 1/36 | - | 1 |
14-71374611-C-G | c.44C>G | p.A15G | Missense | 1/36 | - | 2 |
14-71374612-C-A | c.45C>A | p.A15= | Synonymous | 1/36 | - | 2 |
14-71374612-C-G | c.45C>G | p.A15= | Synonymous | 1/36 | - | 2 |
14-71374612-C-T | c.45C>T | p.A15= | Synonymous | 1/36 | - | 2 |
14-71374613-G-A | c.46G>A | p.A16T | Missense | 1/36 | - | 1 |
14-71374613-GCG-TAT | c.46_48delinsTAT | p.A16Y | Missense | 1/36 | - | 1 |
14-71374613-GCG-TTT | c.46_48delinsTTT | p.A16F | Missense | 1/36 | - | 1 |
14-71374613-GC-TA | c.46_47delinsTA | p.A16* | Nonsense | 1/36 | - | 2 |
14-71374613-G-GC | c.47dup | p.L17Afs*70 | Frameshift | 1/36 | - | 1 |
14-71374614-C-T | c.47C>T | p.A16V | Missense | 1/36 | - | 1 |
14-71374615-G-T | c.48G>T | p.A16= | Synonymous | 1/36 | - | 1 |
14-71374618-C-A | c.51C>A | p.L17= | Synonymous | 1/36 | - | 1 |
14-71374618-C-G | c.51C>G | p.L17= | Synonymous | 1/36 | - | 1 |
14-71374618-C-T | c.51C>T | p.L17= | Synonymous | 1/36 | - | 1 |
14-71374619-AG-GC | c.52_53delinsGC | p.S18A | Missense | 1/36 | - | 1 |
14-71374624-G-A | c.57G>A | p.G19= | Synonymous | 1/36 | - | 1 |
14-71374624-G-C | c.57G>C | p.G19= | Synonymous | 1/36 | - | 2 |
14-71374624-G-T | c.57G>T | p.G19= | Synonymous | 1/36 | - | 2 |
14-71374631-T-C | c.64T>C | p.Y22H | Missense | 1/36 | - | 2 |
14-71374637-G-A | c.70G>A | p.D24N | Missense | 1/36 | - | 1 |
14-71374637-G-T | c.70G>T | p.D24Y | Missense | 1/36 | - | 2 |
14-71374639-C-A | c.72C>A | p.D24E | Missense | 1/36 | - | 1 |
14-71374639-C-G | c.72C>G | p.D24E | Missense | 1/36 | - | 1 |
14-71374639-C-T | c.72C>T | p.D24= | Synonymous | 1/36 | - | 1 |
14-71374640-C-T | c.73C>T | p.P25S | Missense | 1/36 | - | 2 |
14-71374641-C-A | c.74C>A | p.P25Q | Missense | 1/36 | - | 1 |
14-71374642-G-A | c.75G>A | p.P25= | Synonymous | 1/36 | - | 1 |
14-71374642-G-C | c.75G>C | p.P25= | Synonymous | 1/36 | - | 1 |
14-71374642-G-T | c.75G>T | p.P25= | Synonymous | 1/36 | - | 1 |
14-71374643-C-T | c.76C>T | p.H26Y | Missense | 1/36 | - | 2 |
14-71374644-A-T | c.77A>T | p.H26L | Missense | 1/36 | - | 1 |
14-71374646-C-A | c.79C>A | p.Q27K | Missense | 1/36 | - | 2 |
14-71374649-G-A | c.82G>A | p.A28T | Missense | 1/36 | - | 1 |
14-71374649-GCC-AAG | c.82_84delinsAAG | p.A28K | Missense | 1/36 | - | 1 |
14-71374649-GCC-CAA | c.82_84delinsCAA | p.A28Q | Missense | 1/36 | - | 1 |
14-71374649-GCC-TAA | c.82_84delinsTAA | p.A28* | Nonsense | 1/36 | - | 1 |
14-71374650-C-G | c.83C>G | p.A28G | Missense | 1/36 | - | 2 |
14-71374653-C-T | c.86C>T | p.T29I | Missense | 1/36 | - | 1 |
14-71374657-C-T | c.90C>T | p.F30= | Synonymous | 1/36 | - | 1 |
14-71374659-T-A | c.92T>A | p.V31E | Missense | 1/36 | - | 1 |
14-71374659-T-C | c.92T>C | p.V31A | Missense | 1/36 | - | 1 |
14-71374664-G-A | c.97G>A | p.A33T | Missense | 1/36 | - | 1 |
14-71374672-C-A | c.105C>A | p.H35Q | Missense | 1/36 | - | 1 |
14-71374672-C-G | c.105C>G | p.H35Q | Missense | 1/36 | - | 1 |
14-71374673-CT-GC | c.106_107delinsGC | p.L36A | Missense | 1/36 | - | 1 |
14-71374675-C-A | c.108C>A | p.L36= | Synonymous | 1/36 | - | 1 |
14-71374675-C-G | c.108C>G | p.L36= | Synonymous | 1/36 | - | 2 |
14-71374675-C-T | c.108C>T | p.L36= | Synonymous | 1/36 | - | 1 |
14-71374677-A-G | c.110A>G | p.Y37C | Missense | 1/36 | - | 1 |
14-71374687-C-A | c.120C>A | p.L40= | Synonymous | 1/36 | - | 1 |
14-71374687-C-G | c.120C>G | p.L40= | Synonymous | 1/36 | - | 1 |
14-71374687-C-T | c.120C>T | p.L40= | Synonymous | 1/36 | - | 1 |
14-71374691-C-T | c.124C>T | p.L42= | Synonymous | 1/36 | - | 1 |
14-71374693-G-A | c.126G>A | p.L42= | Synonymous | 1/36 | - | 1 |
14-71374693-G-C | c.126G>C | p.L42= | Synonymous | 1/36 | - | 1 |
14-71374693-G-T | c.126G>T | p.L42= | Synonymous | 1/36 | - | 1 |
14-71374694-C-G | c.127C>G | p.L43V | Missense | 1/36 | - | 1 |
14-71374695-T-A | c.128T>A | p.L43Q | Missense | 1/36 | - | 1 |
14-71374700-C-T | c.133C>T | p.L45= | Synonymous | 1/36 | - | 2 |
14-71374702-G-A | c.135G>A | p.L45= | Synonymous | 1/36 | - | 17 |
14-71374702-G-C | c.135G>C | p.L45= | Synonymous | 1/36 | - | 14 |
14-71374702-G-T | c.135G>T | p.L45= | Synonymous | 1/36 | - | 2 |
14-71374704-C-T | c.137C>T | p.P46L | Missense | 1/36 | - | 2 |
14-71374708-C-T | c.141C>T | p.F47= | Synonymous | 1/36 | - | 1 |
14-71374709-A-T | c.142A>T | p.T48S | Missense | 1/36 | - | 1 |
14-71374710-C-G | c.143C>G | p.T48S | Missense | 1/36 | - | 1 |
14-71374714-C-A | c.147C>A | p.L49= | Synonymous | 1/36 | - | 1 |
14-71374714-C-G | c.147C>G | p.L49= | Synonymous | 1/36 | - | 1 |
14-71374714-C-T | c.147C>T | p.L49= | Synonymous | 1/36 | - | 1 |
14-71374717-C-T | c.150C>T | p.Y50= | Synonymous | 1/36 | - | 2 |
14-71374798-C-T | c.153+78C>T | - | IntronicSNV | - | 1/35 | 1 |
14-71376008-T-C | c.153+1288T>C | - | IntronicSNV | - | 1/35 | 1 |
14-71380351-C-T | c.153+5631C>T | - | IntronicSNV | - | 1/35 | 1 |
14-71380826-T-G | c.153+6106T>G | - | IntronicSNV | - | 1/35 | 1 |
14-71382470-CTTCT-C | c.153+7753_153+7756del | - | IntronicDeletion | - | 1/35 | 1 |
14-71386662-G-A | c.153+11942G>A | - | IntronicSNV | - | 1/35 | 1 |
14-71388398-T-A | c.153+13678T>A | - | IntronicSNV | - | 1/35 | 1 |
14-71391833-GTAGC-G | c.153+17115_153+17118del | - | IntronicDeletion | - | 1/35 | 1 |
14-71395604-C-A | c.154-18028C>A | - | IntronicSNV | - | 1/35 | 1 |
14-71395770-C-T | c.154-17862C>T | - | IntronicSNV | - | 1/35 | 1 |
14-71395966-T-C | c.154-17666T>C | - | IntronicSNV | - | 1/35 | 1 |
14-71404246-T-TA | c.154-9385dup | - | IntronicInsertion | - | 1/35 | 1 |
14-71413346-T-C | c.154-286T>C | - | IntronicSNV | - | 1/35 | 1 |
14-71413610-C-T | c.154-22C>T | - | IntronicSNV | - | 1/35 | 1 |
14-71413632-GCC-CAA | c.154_156delinsCAA | p.A52Q | Missense | 2/36 | - | 1 |
14-71413632-GC-TG | c.154_155delinsTG | p.A52C | Missense | 2/36 | - | 1 |
14-71413633-C-A | c.155C>A | p.A52D | Missense | 2/36 | - | 1 |
14-71413635-C-A | c.157C>A | p.L53I | Missense | 2/36 | - | 1 |
14-71413635-C-T | c.157C>T | p.L53F | Missense | 2/36 | - | 2 |
14-71413636-T-C | c.158T>C | p.L53P | Missense | 2/36 | - | 1 |
14-71413637-T-A | c.159T>A | p.L53= | Synonymous | 2/36 | - | 1 |
14-71413638-C-T | c.160C>T | p.P54S | Missense | 2/36 | - | 1 |
14-71413642-C-T | c.164C>T | p.S55F | Missense | 2/36 | - | 1 |
14-71413643-T-A | c.165T>A | p.S55= | Synonymous | 2/36 | - | 1 |
14-71413643-T-C | c.165T>C | p.S55= | Synonymous | 2/36 | - | 1 |
14-71413643-T-G | c.165T>G | p.S55= | Synonymous | 2/36 | - | 1 |
14-71413649-G-T | c.171G>T | p.M57I | Missense | 2/36 | - | 1 |
14-71413650-A-G | c.172A>G | p.I58V | Missense | 2/36 | - | 1 |
14-71413655-A-G | c.177A>G | p.I59M | Missense | 2/36 | - | 1 |
14-71413659-G-A | c.181G>A | p.A61T | Missense | 2/36 | - | 1 |
14-71413662-G-T | c.184G>T | p.V62F | Missense | 2/36 | - | 1 |
14-71413667-T-A | c.189T>A | p.Y63* | Nonsense | 2/36 | - | 1 |
14-71413667-T-G | c.189T>G | p.Y63* | Nonsense | 2/36 | - | 1 |
14-71413671-C-T | c.193C>T | p.P65S | Missense | 2/36 | - | 1 |
14-71413680-G-A | c.202G>A | p.A68T | Missense | 2/36 | - | 1 |
14-71413682-T-A | c.204T>A | p.A68= | Synonymous | 2/36 | - | 1 |
14-71413682-T-C | c.204T>C | p.A68= | Synonymous | 2/36 | - | 1 |
14-71413682-T-G | c.204T>G | p.A68= | Synonymous | 2/36 | - | 1 |
14-71413685-T-A | c.207T>A | p.A69= | Synonymous | 2/36 | - | 1 |
14-71413685-T-C | c.207T>C | p.A69= | Synonymous | 2/36 | - | 1 |
14-71413685-T-G | c.207T>G | p.A69= | Synonymous | 2/36 | - | 1 |
14-71413686-G-C | c.208G>C | p.V70L | Missense | 2/36 | - | 1 |
14-71413686-G-T | c.208G>T | p.V70F | Missense | 2/36 | - | 1 |
14-71413688-T-C | c.210T>C | p.V70= | Synonymous | 2/36 | - | 1 |
14-71413693-T-C | c.215T>C | p.I72T | Missense | 2/36 | - | 1 |
14-71413695-G-A | c.217G>A | p.V73I | Missense | 2/36 | - | 1 |
14-71413696-T-C | c.218T>C | p.V73A | Missense | 2/36 | - | 3 |
14-71413698-C-T | c.220C>T | p.L74= | Synonymous | 2/36 | - | 1 |
14-71413700-G-T | c.222G>T | p.L74= | Synonymous | 2/36 | - | 1 |
14-71413703-G-A | c.225G>A | p.K75= | Synonymous | 2/36 | - | 1 |
14-71413706-G-T | c.228G>T | p.M76I | Missense | 2/36 | - | 1 |
14-71413707-GTC-ATG | c.229_231delinsATG | p.V77M | Missense | 2/36 | - | 1 |
14-71413708-T-C | c.230T>C | p.V77A | Missense | 2/36 | - | 1 |
14-71413709-C-A | c.231C>A | p.V77= | Synonymous | 2/36 | - | 1 |
14-71413709-C-G | c.231C>G | p.V77= | Synonymous | 2/36 | - | 1 |
14-71413709-C-T | c.231C>T | p.V77= | Synonymous | 2/36 | - | 1 |
14-71413711-A-G | c.233A>G | p.N78S | Missense | 2/36 | - | 2 |
14-71413712-C-A | c.234C>A | p.N78K | Missense | 2/36 | - | 1 |
14-71413714-A-G | c.236A>G | p.Y79C | Missense | 2/36 | - | 3 |
14-71413716-C-T | c.238C>T | p.R80* | Nonsense | 2/36 | - | 1 |
14-71413717-G-A | c.239G>A | p.R80Q | Missense | 2/36 | - | 1 |
14-71413720-T-C | c.242T>C | p.L81P | Missense | 2/36 | - | 1 |
14-71413720-T-G | c.242T>G | p.L81R | Missense | 2/36 | - | 1 |
14-71413722-C-T | c.244C>T | p.H82Y | Missense | 2/36 | - | 1 |
14-71413725-AGA-TGT | c.247_249delinsTGT | p.R83C | Missense | 2/36 | - | 1 |
14-71413726-G-A | c.248G>A | p.R83K | Missense | 2/36 | - | 1 |
14-71413731-C-T | c.253C>T | p.L85F | Missense | 2/36 | - | 1 |
14-71413732-T-G | c.254T>G | p.L85R | Missense | 2/36 | - | 1 |
14-71413740-GGA-TGT | c.262_264delinsTGT | p.G88C | Missense | 2/36 | - | 1 |
14-71413741-G-C | c.263G>C | p.G88A | Missense | 2/36 | - | 1 |
14-71413741-G-T | c.263G>T | p.G88V | Missense | 2/36 | - | 1 |
14-71413745-A-C | c.267A>C | p.E89D | Missense | 2/36 | - | 1 |
14-71413749-G-C | c.271G>C | p.V91L | Missense | 2/36 | - | 1 |
14-71413758-AC-GG | c.280_281delinsGG | p.T94G | Missense | 2/36 | - | 1 |
14-71413759-C-T | c.281C>T | p.T94I | Missense | 2/36 | - | 1 |
14-71413761-G-C | c.283G>C | p.A95P | Missense | 2/36 | - | 1 |
14-71413764-A-G | c.286A>G | p.N96D | Missense | 2/36 | - | 1 |
14-71413769-G-C | c.291G>C | p.E97D | Missense | 2/36 | - | 1 |
14-71413774-C-T | c.296C>T | p.T99M | Missense | 2/36 | - | 1 |
14-71413776-G-A | c.298G>A | p.D100N | Missense | 2/36 | - | 1 |
14-71413779-C-T | c.301C>T | p.Q101* | Nonsense | 2/36 | - | 1 |
14-71413781-G-A | c.303G>A | p.Q101= | Synonymous | 2/36 | - | 1 |
14-71413782-C-A | c.304C>A | p.R102= | Synonymous | 2/36 | - | 1 |
14-71413783-G-A | c.305G>A | p.R102Q | Missense | 2/36 | - | 2 |
14-71413783-GA-AT | c.305_306delinsAT | p.R102H | Missense | 2/36 | - | 1 |
14-71413786-C-A | c.308C>A | p.T103N | Missense | 2/36 | - | 1 |
14-71413794-G-C | c.316G>C | p.E106Q | Missense | 2/36 | - | 1 |
14-71413797-C-G | c.319C>G | p.Q107E | Missense | 2/36 | - | 1 |
14-71413808-T-A | c.330T>A | p.C110* | Nonsense | 2/36 | - | 1 |
14-71413810-C-A | c.332C>A | p.S111* | Nonsense | 2/36 | - | 3 |
14-71413810-C-G | c.332C>G | p.S111* | Nonsense | 2/36 | - | 1 |
14-71413812-A-C | c.334A>C | p.T112P | Missense | 2/36 | - | 1 |
14-71413816-G-T | c.338G>T | p.R113M | Missense | 2/36 | - | 2 |
14-71413815-A-C | c.337A>C | p.R113= | Synonymous | 2/36 | - | 1 |
14-71413817-G-A | c.339G>A | p.R113= | Synonymous | 2/36 | - | 1 |
14-71413817-G-C | c.339G>C | p.R113S | Missense | 2/36 | - | 1 |
14-71413817-G-T | c.339G>T | p.R113S | Missense | 2/36 | - | 2 |
14-71413818-AG-CA | c.340_341delinsCA | p.R114Q | Missense | 2/36 | - | 1 |
14-71413827-AG-TA | c.349_350delinsTA | p.S117Y | Missense | 2/36 | - | 1 |
14-71413833-G-T | c.355G>T | p.G119* | Nonsense | 2/36 | - | 2 |
14-71413834-G-A | c.356G>A | p.G119E | Missense | 2/36 | - | 2 |
14-71413834-G-T | c.356G>T | p.G119V | Missense | 2/36 | - | 1 |
14-71413837-C-T | c.359C>T | p.P120L | Missense | 2/36 | - | 3 |
14-71413840-G-GTGATCCTGGTGGAGGGATTGAAATGTCTGAGTTCATCCGAGAGGCCACACCCCCA | c.362_362+1insTGATCCTGGTGGAGGGATTGAAATGTCTGAGTTCATCCGAGAGGCCACACCCCCA | p.V140* | SpliceDonorInsertion | - | - | 1 |
14-71414117-A-G | c.362+277A>G | - | IntronicSNV | - | 2/35 | 1 |
14-71414870-TTG-T | c.362+1030_362+1031del | - | IntronicDeletion | - | 2/35 | 1 |
14-71419892-A-T | c.362+6052A>T | - | IntronicSNV | - | 2/35 | 1 |
14-71425668-C-T | c.363-3275C>T | - | IntronicSNV | - | 2/35 | 1 |
14-71428943-T-C | c.363T>C | p.S121= | Synonymous | 3/36 | - | 1 |
14-71428944-G-T | c.364G>T | p.D122Y | Missense | 3/36 | - | 1 |
14-71428947-C-G | c.367C>G | p.P123A | Missense | 3/36 | - | 1 |
14-71428954-G-A | c.374G>A | p.G125E | Missense | 3/36 | - | 2 |
14-71428957-G-A | c.377G>A | p.G126E | Missense | 3/36 | - | 1 |
14-71428960-TT-AG | c.380_381delinsAG | p.I127K | Missense | 3/36 | - | 1 |
14-71428961-T-A | c.381T>A | p.I127= | Synonymous | 3/36 | - | 1 |
14-71428961-T-C | c.381T>C | p.I127= | Synonymous | 3/36 | - | 1 |
14-71428967-G-A | c.387G>A | p.M129I | Missense | 3/36 | - | 1 |
14-71428967-G-C | c.387G>C | p.M129I | Missense | 3/36 | - | 1 |
14-71428967-G-T | c.387G>T | p.M129I | Missense | 3/36 | - | 1 |
14-71428969-C-T | c.389C>T | p.S130F | Missense | 3/36 | - | 3 |
14-71428974-T-C | c.394T>C | p.F132L | Missense | 3/36 | - | 1 |
14-71428976-C-A | c.396C>A | p.F132L | Missense | 3/36 | - | 1 |
14-71428976-C-G | c.396C>G | p.F132L | Missense | 3/36 | - | 1 |
14-71428977-A-C | c.397A>C | p.I133L | Missense | 3/36 | - | 1 |
14-71428979-C-T | c.399C>T | p.I133= | Synonymous | 3/36 | - | 3 |
14-71428983-G-C | c.403G>C | p.E135Q | Missense | 3/36 | - | 1 |
14-71428990-C-G | c.410C>G | p.T137R | Missense | 3/36 | - | 1 |
14-71428992-C-A | c.412C>A | p.P138T | Missense | 3/36 | - | 1 |
14-71428993-C-T | c.413C>T | p.P138L | Missense | 3/36 | - | 1 |
14-71428994-C-T | c.414C>T | p.P138= | Synonymous | 3/36 | - | 1 |
14-71428991-AC-A | c.416del | p.P139Qfs*13 | Frameshift | 3/36 | - | 2 |
14-71428998-G-C | c.418G>C | p.V140L | Missense | 3/36 | - | 1 |
14-71429001-G-A | c.421G>A | p.G141S | Missense | 3/36 | - | 1 |
14-71429001-G-T | c.421G>T | p.G141C | Missense | 3/36 | - | 2 |
14-71429005-G-A | c.425G>A | p.C142Y | Missense | 3/36 | - | 1 |
14-71429008-G-A | c.428G>A | p.S143N | Missense | 3/36 | - | 1 |
14-71429014-G-T | c.434G>T | p.R145I | Missense | 3/36 | - | 1 |
14-71429016-A-G | c.436A>G | p.N146D | Missense | 3/36 | - | 2 |
14-71429020-C-G | c.440C>G | p.S147C | Missense | 3/36 | - | 1 |
14-71429021-T-A | c.441T>A | p.S147= | Synonymous | 3/36 | - | 1 |
14-71429027-C-T | c.447C>T | p.A149= | Synonymous | 3/36 | - | 1 |
14-71429028-G-A | c.448G>A | p.G150S | Missense | 3/36 | - | 1 |
14-71429029-G-A | c.449G>A | p.G150D | Missense | 3/36 | - | 1 |
14-71429029-G-T | c.449G>T | p.G150V | Missense | 3/36 | - | 1 |
14-71429031-C-G | c.451C>G | p.L151V | Missense | 3/36 | - | 1 |
14-71429034-G-A | c.454G>A | p.D152N | Missense | 3/36 | - | 1 |
14-71429034-G-T | c.454G>T | p.D152Y | Missense | 3/36 | - | 2 |
14-71429036-T-C | c.456T>C | p.D152= | Synonymous | 3/36 | - | 1 |
14-71429044-A-G | c.464A>G | p.N155S | Missense | 3/36 | - | 1 |
14-71429046-C-A | c.466C>A | p.Q156K | Missense | 3/36 | - | 1 |
14-71432172-C-A | c.469-2743C>A | - | IntronicSNV | - | 3/35 | 1 |
14-71434915-A-C | c.469A>C | p.I157L | Missense | 4/36 | - | 1 |
14-71434916-T-A | c.470T>A | p.I157N | Missense | 4/36 | - | 2 |
14-71434916-T-C | c.470T>C | p.I157T | Missense | 4/36 | - | 1 |
14-71434918-GGA-AGC | c.472_474delinsAGC | p.G158S | Missense | 4/36 | - | 1 |
14-71434921-T-C | c.475T>C | p.S159P | Missense | 4/36 | - | 1 |
14-71434922-C-A | c.476C>A | p.S159Y | Missense | 4/36 | - | 1 |
14-71434926-T-A | c.480T>A | p.G160= | Synonymous | 4/36 | - | 1 |
14-71434926-T-C | c.480T>C | p.G160= | Synonymous | 4/36 | - | 1 |
14-71434926-T-G | c.480T>G | p.G160= | Synonymous | 4/36 | - | 1 |
14-71434930-CTCG-C | c.484_486del | p.S162del | InFrameDeletion | 4/36 | - | 1 |
14-71434932-G-A | c.486G>A | p.S162= | Synonymous | 4/36 | - | 1 |
14-71434933-CGT-TGA | c.487_489delinsTGA | p.R163* | Nonsense | 4/36 | - | 2 |
14-71434933-C-T | c.487C>T | p.R163C | Missense | 4/36 | - | 4 |
14-71434934-G-A | c.488G>A | p.R163H | Missense | 4/36 | - | 3 |
14-71434934-GT-AA | c.488_489delinsAA | p.R163Q | Missense | 4/36 | - | 1 |
14-71434937-T-A | c.491T>A | p.L164H | Missense | 4/36 | - | 2 |
14-71434938-T-C | c.492T>C | p.L164= | Synonymous | 4/36 | - | 1 |
14-71434940-GA-AC | c.494_495delinsAC | p.G165D | Missense | 4/36 | - | 1 |
14-71434943-C-T | c.497C>T | p.T166I | Missense | 4/36 | - | 5 |
14-71434948-AG-A | c.502del | p.A168Qfs*18 | Frameshift | 4/36 | - | 1 |
14-71435300-A-G | c.514+340A>G | - | IntronicSNV | - | 4/35 | 1 |
14-71435739-A-G | c.516A>G | p.G172= | Synonymous | 5/36 | - | 1 |
14-71435740-G-A | c.517G>A | p.D173N | Missense | 5/36 | - | 1 |
14-71435743-A-G | c.520A>G | p.T174A | Missense | 5/36 | - | 1 |
14-71435747-A-C | c.524A>C | p.D175A | Missense | 5/36 | - | 1 |
14-71435749-A-G | c.526A>G | p.T176A | Missense | 5/36 | - | 1 |
14-71435749-ACTG-A | c.529_531del | p.A177del | InFrameDeletion | 5/36 | - | 1 |
14-71435757-G-A | c.534G>A | p.K178= | Synonymous | 5/36 | - | 1 |
14-71435759-C-T | c.536C>T | p.T179I | Missense | 5/36 | - | 1 |
14-71435761-TC-CT | c.538_539delinsCT | p.S180L | Missense | 5/36 | - | 1 |
14-71435762-C-A | c.539C>A | p.S180Y | Missense | 5/36 | - | 1 |
14-71435764-G-A | c.541G>A | p.D181N | Missense | 5/36 | - | 1 |
14-71435767-G-A | c.544G>A | p.D182N | Missense | 5/36 | - | 1 |
14-71435771-T-C | c.548T>C | p.I183T | Missense | 5/36 | - | 1 |
14-71435780-G-A | c.557G>A | p.S186N | Missense | 5/36 | - | 1 |
14-71435782-C-T | c.559C>T | p.L187= | Synonymous | 5/36 | - | 2 |
14-71435784-G-A | c.561G>A | p.L187= | Synonymous | 5/36 | - | 1 |
14-71435784-G-C | c.561G>C | p.L187= | Synonymous | 5/36 | - | 1 |
14-71435784-G-T | c.561G>T | p.L187= | Synonymous | 5/36 | - | 1 |
14-71435790-A-G | c.567A>G | p.Q189= | Synonymous | 5/36 | - | 1 |
14-71435791-A-T | c.568A>T | p.S190C | Missense | 5/36 | - | 2 |
14-71435798-G-A | c.575G>A | p.S192N | Missense | 5/36 | - | 1 |
14-71435799-T-C | c.576T>C | p.S192= | Synonymous | 5/36 | - | 1 |
14-71435800-C-T | c.577C>T | p.L193F | Missense | 5/36 | - | 4 |
14-71435812-GGA-AGC | c.589_591delinsAGC | p.G197S | Missense | 5/36 | - | 1 |
14-71435813-G-A | c.590G>A | p.G197E | Missense | 5/36 | - | 6 |
14-71435822-A-G | c.599A>G | p.E200G | Missense | 5/36 | - | 1 |
14-71436074-A-G | c.604+247A>G | - | IntronicSNV | - | 5/35 | 1 |
14-71441524-C-T | c.605-2135C>T | - | IntronicSNV | - | 5/35 | 1 |
14-71443670-G-C | c.616G>C | p.D206H | Missense | 6/36 | - | 1 |
14-71443671-A-C | c.617A>C | p.D206A | Missense | 6/36 | - | 1 |
14-71443673-C-T | c.619C>T | p.R207W | Missense | 6/36 | - | 4 |
14-71443674-G-A | c.620G>A | p.R207Q | Missense | 6/36 | - | 8 |
14-71443681-C-A | c.627C>A | p.L209= | Synonymous | 6/36 | - | 1 |
14-71443681-C-G | c.627C>G | p.L209= | Synonymous | 6/36 | - | 1 |
14-71443681-C-T | c.627C>T | p.L209= | Synonymous | 6/36 | - | 1 |
14-71443685-C-G | c.631C>G | p.R211G | Missense | 6/36 | - | 1 |
14-71443685-C-T | c.631C>T | p.R211C | Missense | 6/36 | - | 2 |
14-71443686-G-A | c.632G>A | p.R211H | Missense | 6/36 | - | 1 |
14-71443686-GT-AA | c.632_633delinsAA | p.R211Q | Missense | 6/36 | - | 1 |
14-71443688-C-A | c.634C>A | p.L212I | Missense | 6/36 | - | 1 |
14-71443691-GTC-ATG | c.637_639delinsATG | p.V213M | Missense | 6/36 | - | 1 |
14-71443695-C-T | c.641C>T | p.S214F | Missense | 6/36 | - | 1 |
14-71443698-A-G | c.644A>G | p.N215S | Missense | 6/36 | - | 1 |
14-71443701-A-G | c.647A>G | p.D216G | Missense | 6/36 | - | 2 |
14-71443703-T-C | c.649T>C | p.S217P | Missense | 6/36 | - | 5 |
14-71443703-TC-CG | c.649_650delinsCG | p.S217R | Missense | 6/36 | - | 1 |
14-71443704-C-G | c.650C>G | p.S217C | Missense | 6/36 | - | 1 |
14-71443704-C-T | c.650C>T | p.S217F | Missense | 6/36 | - | 1 |
14-71443704-CCTT-C | c.652_654del | p.F218del | InFrameDeletion | 6/36 | - | 1 |
14-71443706-T-A | c.652T>A | p.F218I | Missense | 6/36 | - | 1 |
14-71443707-T-C | c.653T>C | p.F218S | Missense | 6/36 | - | 1 |
14-71443708-C-T | c.654C>T | p.F218= | Synonymous | 6/36 | - | 2 |
14-71443711-C-A | c.657C>A | p.I219= | Synonymous | 6/36 | - | 2 |
14-71443711-C-T | c.657C>T | p.I219= | Synonymous | 6/36 | - | 2 |
14-71443712-TC-AT | c.658_659delinsAT | p.S220I | Missense | 6/36 | - | 1 |
14-71443713-C-T | c.659C>T | p.S220F | Missense | 6/36 | - | 1 |
14-71443714-T-A | c.660T>A | p.S220= | Synonymous | 6/36 | - | 1 |
14-71443714-T-C | c.660T>C | p.S220= | Synonymous | 6/36 | - | 1 |
14-71443714-T-G | c.660T>G | p.S220= | Synonymous | 6/36 | - | 1 |
14-71443718-C-A | c.664C>A | p.Q222K | Missense | 6/36 | - | 1 |
14-71443718-C-T | c.664C>T | p.Q222* | Nonsense | 6/36 | - | 1 |
14-71443721-C-T | c.667C>T | p.P223S | Missense | 6/36 | - | 3 |
14-71443727-T-A | c.673T>A | p.L225I | Missense | 6/36 | - | 1 |
14-71443728-T-G | c.674T>G | p.L225* | Nonsense | 6/36 | - | 2 |
14-71443731-C-T | c.677C>T | p.S226F | Missense | 6/36 | - | 1 |
14-71443733-TC-CG | c.679_680delinsCG | p.S227R | Missense | 6/36 | - | 1 |
14-71443739-GGA-AGC | c.685_687delinsAGC | p.G229S | Missense | 6/36 | - | 1 |
14-71443740-G-C | c.686G>C | p.G229A | Missense | 6/36 | - | 1 |
14-71443740-G-T | c.686G>T | p.G229V | Missense | 6/36 | - | 1 |
14-71443745-G-A | c.691G>A | p.D231N | Missense | 6/36 | - | 1 |
14-71443747-C-T | c.693C>T | p.D231= | Synonymous | 6/36 | - | 1 |
14-71443750-G-C | c.696G>C | p.L232F | Missense | 6/36 | - | 3 |
14-71443750-G-T | c.696G>T | p.L232F | Missense | 6/36 | - | 5 |
14-71443753-A-C | c.699A>C | p.P233= | Synonymous | 6/36 | - | 1 |
14-71443753-A-G | c.699A>G | p.P233= | Synonymous | 6/36 | - | 1 |
14-71443753-A-T | c.699A>T | p.P233= | Synonymous | 6/36 | - | 1 |
14-71443754-AGG-TGT | c.700_702delinsTGT | p.R234C | Missense | 6/36 | - | 1 |
14-71443755-G-T | c.701G>T | p.R234M | Missense | 6/36 | - | 1 |
14-71443756-G-A | c.702G>A | p.R234= | Synonymous | 6/36 | - | 1 |
14-71443757-G-A | c.703G>A | p.D235N | Missense | 6/36 | - | 1 |
14-71443765-GT-G | c.711del | p.S237Rfs*4 | Frameshift | 6/36 | - | 1 |
14-71443765-T-C | c.711T>C | p.S237= | Synonymous | 6/36 | - | 1 |
14-71443767-A-G | c.713A>G | p.D238G | Missense | 6/36 | - | 2 |
14-71443782-C-T | c.728C>T | p.P243L | Missense | 6/36 | - | 1 |
14-71443793-C-A | c.739C>A | p.H247N | Missense | 6/36 | - | 1 |
14-71443793-C-T | c.739C>T | p.H247Y | Missense | 6/36 | - | 2 |
14-71443799-C-T | c.745C>T | p.H249Y | Missense | 6/36 | - | 2 |
14-71443800-A-C | c.746A>C | p.H249P | Missense | 6/36 | - | 1 |
14-71443800-A-G | c.746A>G | p.H249R | Missense | 6/36 | - | 2 |
14-71443805-GTT-ATG | c.751_753delinsATG | p.V251M | Missense | 6/36 | - | 1 |
14-71443807-T-A | c.753T>A | p.V251= | Synonymous | 6/36 | - | 2 |
14-71443807-T-C | c.753T>C | p.V251= | Synonymous | 6/36 | - | 3 |
14-71443807-T-G | c.753T>G | p.V251= | Synonymous | 6/36 | - | 2 |
14-71443807-T-TG | c.754dup | p.D252Gfs*9 | Frameshift | 6/36 | - | 1 |
14-71443812-A-G | c.758A>G | p.Q253R | Missense | 6/36 | - | 1 |
14-71443814-TC-CT | c.760_761delinsCT | p.S254L | Missense | 6/36 | - | 2 |
14-71443816-T-G | c.762T>G | p.S254= | Synonymous | 6/36 | - | 1 |
14-71443817-C-T | c.763C>T | p.L255= | Synonymous | 6/36 | - | 2 |
14-71443819-G-A | c.765G>A | p.L255= | Synonymous | 6/36 | - | 1 |
14-71443819-G-C | c.765G>C | p.L255= | Synonymous | 6/36 | - | 1 |
14-71443819-G-T | c.765G>T | p.L255= | Synonymous | 6/36 | - | 1 |
14-71443822-C-T | c.768C>T | p.S256= | Synonymous | 6/36 | - | 4 |
14-71443841-G-C | c.787G>C | p.V263L | Missense | 6/36 | - | 1 |
14-71443842-T-G | c.788T>G | p.V263G | Missense | 6/36 | - | 1 |
14-71443843-A-C | c.789A>C | p.V263= | Synonymous | 6/36 | - | 1 |
14-71443843-A-G | c.789A>G | p.V263= | Synonymous | 6/36 | - | 1 |
14-71443843-A-T | c.789A>T | p.V263= | Synonymous | 6/36 | - | 1 |
14-71443844-G-T | c.790G>T | p.A264S | Missense | 6/36 | - | 1 |
14-71443851-T-C | c.797T>C | p.L266P | Missense | 6/36 | - | 1 |
14-71443851-T-G | c.797T>G | p.L266R | Missense | 6/36 | - | 1 |
14-71443853-G-A | c.799G>A | p.V267I | Missense | 6/36 | - | 1 |
14-71443856-C-T | c.802C>T | p.P268S | Missense | 6/36 | - | 2 |
14-71443863-A-G | c.809A>G | p.H270R | Missense | 6/36 | - | 1 |
14-71443865-T-G | c.811T>G | p.S271A | Missense | 6/36 | - | 1 |
14-71443873-T-A | c.819T>A | p.S273= | Synonymous | 6/36 | - | 2 |
14-71443873-T-C | c.819T>C | p.S273= | Synonymous | 6/36 | - | 1 |
14-71443873-T-G | c.819T>G | p.S273= | Synonymous | 6/36 | - | 1 |
14-71443876-T-C | c.822T>C | p.Y274= | Synonymous | 6/36 | - | 1 |
14-71443877-A-C | c.823A>C | p.R275= | Synonymous | 6/36 | - | 1 |
14-71443877-AG-CA | c.823_824delinsCA | p.R275Q | Missense | 6/36 | - | 1 |
14-71443880-A-T | c.826A>T | p.K276* | Nonsense | 6/36 | - | 1 |
14-71443883-G-C | c.829G>C | p.D277H | Missense | 6/36 | - | 1 |
14-71443885-C-T | c.831C>T | p.D277= | Synonymous | 6/36 | - | 1 |
14-71443886-C-A | c.832C>A | p.H278N | Missense | 6/36 | - | 1 |
14-71443887-A-G | c.833A>G | p.H278R | Missense | 6/36 | - | 1 |
14-71443890-G-A | c.836G>A | p.R279Q | Missense | 6/36 | - | 1 |
14-71443893-C-T | c.839C>T | p.P280L | Missense | 6/36 | - | 2 |
14-71443894-G-A | c.840G>A | p.P280= | Synonymous | 6/36 | - | 1 |
14-71443894-G-C | c.840G>C | p.P280= | Synonymous | 6/36 | - | 1 |
14-71443894-G-T | c.840G>T | p.P280= | Synonymous | 6/36 | - | 1 |
14-71443895-C-T | c.841C>T | p.R281* | Nonsense | 6/36 | - | 1 |
14-71443896-G-A | c.842G>A | p.R281Q | Missense | 6/36 | - | 1 |
14-71443896-GA-AT | c.842_843delinsAT | p.R281H | Missense | 6/36 | - | 1 |
14-71443896-G-T | c.842G>T | p.R281L | Missense | 6/36 | - | 1 |
14-71443898-G-A | c.844G>A | p.G282S | Missense | 6/36 | - | 1 |
14-71443900-T-A | c.846T>A | p.G282= | Synonymous | 6/36 | - | 1 |
14-71443900-T-C | c.846T>C | p.G282= | Synonymous | 6/36 | - | 1 |
14-71443900-T-G | c.846T>G | p.G282= | Synonymous | 6/36 | - | 1 |
14-71443905-C-T | c.851C>T | p.P284L | Missense | 6/36 | - | 1 |
14-71443908-G-A | c.854G>A | p.R285Q | Missense | 6/36 | - | 5 |
14-71443916-AG-CT | c.862_863inv | p.S288L | Missense | 6/36 | - | 1 |
14-71443920-C-T | c.866C>T | p.S289F | Missense | 6/36 | - | 4 |
14-71443923-C-T | c.869C>T | p.A290V | Missense | 6/36 | - | 1 |
14-71443926-T-TG | c.874dup | p.A292Gfs*9 | Frameshift | 6/36 | - | 1 |
14-71443930-T-A | c.876T>A | p.A292= | Synonymous | 6/36 | - | 1 |
14-71443930-T-C | c.876T>C | p.A292= | Synonymous | 6/36 | - | 1 |
14-71443930-T-G | c.876T>G | p.A292= | Synonymous | 6/36 | - | 1 |
14-71443932-T-TAC | c.878_879insAC | p.F293Lfs*7 | Frameshift | 6/36 | - | 1 |
14-71443937-G-A | c.883G>A | p.D295N | Missense | 6/36 | - | 1 |
14-71443955-T-C | c.901T>C | p.F301L | Missense | 6/36 | - | 1 |
14-71443957-T-A | c.903T>A | p.F301L | Missense | 6/36 | - | 1 |
14-71443957-T-G | c.903T>G | p.F301L | Missense | 6/36 | - | 1 |
14-71443958-C-T | c.904C>T | p.P302S | Missense | 6/36 | - | 2 |
14-71443959-C-T | c.905C>T | p.P302L | Missense | 6/36 | - | 3 |
14-71443960-C-A | c.906C>A | p.P302= | Synonymous | 6/36 | - | 1 |
14-71443960-C-G | c.906C>G | p.P302= | Synonymous | 6/36 | - | 1 |
14-71443960-C-T | c.906C>T | p.P302= | Synonymous | 6/36 | - | 1 |
14-71443961-C-T | c.907C>T | p.L303F | Missense | 6/36 | - | 1 |
14-71443966-AT-A | c.912del | p.Q305Sfs*6 | Frameshift | 6/36 | - | 1 |
14-71443969-G-A | c.915G>A | p.Q305= | Synonymous | 6/36 | - | 1 |
14-71443974-G-T | c.920G>T | p.R307I | Missense | 6/36 | - | 1 |
14-71443976-C-T | c.922C>T | p.R308C | Missense | 6/36 | - | 4 |
14-71443985-G-T | c.931G>T | p.D311Y | Missense | 6/36 | - | 1 |
14-71443988-C-T | c.934C>T | p.P312S | Missense | 6/36 | - | 1 |
14-71443991-GTT-ATG | c.937_939delinsATG | p.V313M | Missense | 6/36 | - | 2 |
14-71443996-T-C | c.942T>C | p.S314= | Synonymous | 6/36 | - | 3 |
14-71444003-G-A | c.949G>A | p.E317K | Missense | 6/36 | - | 2 |
14-71444006-TC-GG | c.952_953delinsGG | p.S318G | Missense | 6/36 | - | 1 |
14-71444014-G-C | c.960G>C | p.K320N | Missense | 6/36 | - | 1 |
14-71444014-G-T | c.960G>T | p.K320N | Missense | 6/36 | - | 1 |
14-71444015-C-T | c.961C>T | p.P321S | Missense | 6/36 | - | 2 |
14-71444016-C-A | c.962C>A | p.P321H | Missense | 6/36 | - | 1 |
14-71444025-G-A | c.971G>A | p.G324E | Missense | 6/36 | - | 1 |
14-71444028-C-A | c.974C>A | p.S325Y | Missense | 6/36 | - | 1 |
14-71444033-G-A | c.979G>A | p.E327K | Missense | 6/36 | - | 1 |
14-71444033-G-T | c.979G>T | p.E327* | Nonsense | 6/36 | - | 1 |
14-71444037-C-G | c.983C>G | p.S328C | Missense | 6/36 | - | 2 |
14-71444037-C-T | c.983C>T | p.S328F | Missense | 6/36 | - | 1 |
14-71444041-G-C | c.987G>C | p.L329F | Missense | 6/36 | - | 1 |
14-71444041-G-T | c.987G>T | p.L329F | Missense | 6/36 | - | 1 |
14-71444042-GTG-ATC | c.988_990delinsATC | p.V330I | Missense | 6/36 | - | 1 |
14-71444051-TC-CT | c.997_998delinsCT | p.S333L | Missense | 6/36 | - | 1 |
14-71444052-C-A | c.998C>A | p.S333Y | Missense | 6/36 | - | 1 |
14-71444055-G-T | c.1001G>T | p.G334V | Missense | 6/36 | - | 2 |
14-71444061-C-T | c.1007C>T | p.S336F | Missense | 6/36 | - | 1 |
14-71444063-G-A | c.1009G>A | p.G337R | Missense | 6/36 | - | 1 |
14-71444063-G-C | c.1009G>C | p.G337R | Missense | 6/36 | - | 1 |
14-71444063-G-T | c.1009G>T | p.G337W | Missense | 6/36 | - | 1 |
14-71444066-G-A | c.1012G>A | p.E338K | Missense | 6/36 | - | 5 |
14-71444069-T-A | c.1015T>A | p.F339I | Missense | 6/36 | - | 1 |
14-71444072-C-T | c.1018C>T | p.Q340* | Nonsense | 6/36 | - | 1 |
14-71444074-G-T | c.1020G>T | p.Q340H | Missense | 6/36 | - | 1 |
14-71444075-C-A | c.1021C>A | p.L341I | Missense | 6/36 | - | 1 |
14-71444077-T-A | c.1023T>A | p.L341= | Synonymous | 6/36 | - | 2 |
14-71444077-T-C | c.1023T>C | p.L341= | Synonymous | 6/36 | - | 2 |
14-71444077-T-G | c.1023T>G | p.L341= | Synonymous | 6/36 | - | 2 |
14-71444078-G-A | c.1024G>A | p.A342T | Missense | 6/36 | - | 1 |
14-71444081-G-C | c.1027G>C | p.G343R | Missense | 6/36 | - | 1 |
14-71444082-GT-AG | c.1028_1029delinsAG | p.G343E | Missense | 6/36 | - | 1 |
14-71444088-T-A | c.1034T>A | p.L345* | Nonsense | 6/36 | - | 1 |
14-71444097-A-G | c.1043A>G | p.N348S | Missense | 6/36 | - | 4 |
14-71444099-A-T | c.1045A>T | p.T349S | Missense | 6/36 | - | 1 |
14-71444100-C-G | c.1046C>G | p.T349S | Missense | 6/36 | - | 1 |
14-71444111-C-A | c.1057C>A | p.P353T | Missense | 6/36 | - | 1 |
14-71444116-A-C | c.1062A>C | p.T354= | Synonymous | 6/36 | - | 2 |
14-71444116-A-G | c.1062A>G | p.T354= | Synonymous | 6/36 | - | 2 |
14-71444116-A-T | c.1062A>T | p.T354= | Synonymous | 6/36 | - | 2 |
14-71444128-G-C | c.1074G>C | p.K358N | Missense | 6/36 | - | 1 |
14-71444128-G-T | c.1074G>T | p.K358N | Missense | 6/36 | - | 1 |
14-71444129-AG-TT | c.1075_1076delinsTT | p.S359F | Missense | 6/36 | - | 1 |
14-71444129-A-C | c.1075A>C | p.S359R | Missense | 6/36 | - | 2 |
14-71444131-C-A | c.1077C>A | p.S359R | Missense | 6/36 | - | 2 |
14-71444131-C-G | c.1077C>G | p.S359R | Missense | 6/36 | - | 2 |
14-71444132-A-G | c.1078A>G | p.K360E | Missense | 6/36 | - | 2 |
14-71444134-A-G | c.1080A>G | p.K360= | Synonymous | 6/36 | - | 1 |
14-71444135-C-T | c.1081C>T | p.P361S | Missense | 6/36 | - | 1 |
14-71444137-T-C | c.1083T>C | p.P361= | Synonymous | 6/36 | - | 1 |
14-71444140-G-C | c.1086G>C | p.L362F | Missense | 6/36 | - | 1 |
14-71444140-G-T | c.1086G>T | p.L362F | Missense | 6/36 | - | 1 |
14-71444140-G-GA | c.1089dup | p.A364Sfs*16 | Frameshift | 6/36 | - | 1 |
14-71444144-G-A | c.1090G>A | p.A364T | Missense | 6/36 | - | 1 |
14-71444145-C-T | c.1091C>T | p.A364V | Missense | 6/36 | - | 1 |
14-71444149-G-C | c.1095G>C | p.E365D | Missense | 6/36 | - | 1 |
14-71444149-G-T | c.1095G>T | p.E365D | Missense | 6/36 | - | 1 |
14-71444165-T-A | c.1111T>A | p.L371M | Missense | 6/36 | - | 1 |
14-71444165-T-G | c.1111T>G | p.L371V | Missense | 6/36 | - | 1 |
14-71444168-A-G | c.1114A>G | p.R372G | Missense | 6/36 | - | 1 |
14-71444179-C-T | c.1125C>T | p.S375= | Synonymous | 6/36 | - | 1 |
14-71444181-C-G | c.1127C>G | p.T376R | Missense | 6/36 | - | 1 |
14-71444183-C-A | c.1129C>A | p.R377= | Synonymous | 6/36 | - | 1 |
14-71444183-C-T | c.1129C>T | p.R377W | Missense | 6/36 | - | 3 |
14-71444185-G-C | c.1131G>C | p.R377= | Synonymous | 6/36 | - | 1 |
14-71444185-G-T | c.1131G>T | p.R377= | Synonymous | 6/36 | - | 1 |
14-71444184-G-A | c.1130G>A | p.R377Q | Missense | 6/36 | - | 2 |
14-71444184-G-T | c.1130G>T | p.R377L | Missense | 6/36 | - | 1 |
14-71444185-G-A | c.1131G>A | p.R377= | Synonymous | 6/36 | - | 2 |
14-71444185-GAGT-G | c.1135_1137del | p.S379del | InFrameDeletion | 6/36 | - | 1 |
14-71444199-CA-TG | c.1145_1146inv | p.T382M | Missense | 6/36 | - | 1 |
14-71444204-A-T | c.1150A>T | p.S384C | Missense | 6/36 | - | 1 |
14-71444205-G-T | c.1151G>T | p.S384I | Missense | 6/36 | - | 2 |
14-71444211-G-A | c.1157G>A | p.C386Y | Missense | 6/36 | - | 1 |
14-71444212-C-T | c.1158C>T | p.C386= | Synonymous | 6/36 | - | 3 |
14-71444216-G-A | c.1162G>A | p.G388R | Missense | 6/36 | - | 1 |
14-71444216-G-C | c.1162G>C | p.G388R | Missense | 6/36 | - | 1 |
14-71444225-C-A | c.1171C>A | p.R391= | Synonymous | 6/36 | - | 1 |
14-71444227-G-A | c.1173G>A | p.R391= | Synonymous | 6/36 | - | 2 |
14-71444227-G-C | c.1173G>C | p.R391= | Synonymous | 6/36 | - | 1 |
14-71444227-G-T | c.1173G>T | p.R391= | Synonymous | 6/36 | - | 1 |
14-71444226-G-A | c.1172G>A | p.R391Q | Missense | 6/36 | - | 6 |
14-71444226-G-C | c.1172G>C | p.R391P | Missense | 6/36 | - | 3 |
14-71444229-A-T | c.1175A>T | p.D392V | Missense | 6/36 | - | 3 |
14-71444232-C-CT | c.1179dup | p.N394* | Nonsense | 6/36 | - | 1 |
14-71444234-AAC-TAA | c.1180_1182delinsTAA | p.N394* | Nonsense | 6/36 | - | 1 |
14-71444235-A-C | c.1181A>C | p.N394T | Missense | 6/36 | - | 1 |
14-71444241-C-T | c.1187C>T | p.T396I | Missense | 6/36 | - | 1 |
14-71444247-G-A | c.1193G>A | p.S398N | Missense | 6/36 | - | 1 |
14-71444253-A-G | c.1199A>G | p.Y400C | Missense | 6/36 | - | 1 |
14-71444260-T-C | c.1206T>C | p.S402= | Synonymous | 6/36 | - | 1 |
14-71444263-G-A | c.1209G>A | p.E403= | Synonymous | 6/36 | - | 1 |
14-71444264-C-T | c.1210C>T | p.Q404* | Nonsense | 6/36 | - | 1 |
14-71444270-A-C | c.1216A>C | p.S406R | Missense | 6/36 | - | 1 |
14-71444272-C-A | c.1218C>A | p.S406R | Missense | 6/36 | - | 1 |
14-71444272-C-G | c.1218C>G | p.S406R | Missense | 6/36 | - | 1 |
14-71444274-C-A | c.1220C>A | p.S407* | Nonsense | 6/36 | - | 1 |
14-71444274-C-G | c.1220C>G | p.S407* | Nonsense | 6/36 | - | 2 |
14-71444287-G-GT | c.1233_1234insT | p.S412* | Nonsense | 6/36 | - | 1 |
14-71444288-A-G | c.1234A>G | p.S412G | Missense | 6/36 | - | 1 |
14-71444293-C-T | c.1239C>T | p.I413= | Synonymous | 6/36 | - | 1 |
14-71444298-C-T | c.1244C>T | p.S415L | Missense | 6/36 | - | 2 |
14-71444307-A-G | c.1253A>G | p.E418G | Missense | 6/36 | - | 1 |
14-71444312-T-A | c.1258T>A | p.S420T | Missense | 6/36 | - | 2 |
14-71444328-AC-A | c.1274del | p.T425Kfs*125 | Frameshift | 6/36 | - | 1 |
14-71444328-CA-C | c.1279del | p.S427Vfs*123 | Frameshift | 6/36 | - | 1 |
14-71444334-AG-A | c.1280del | p.S427Mfs*123 | Frameshift | 6/36 | - | 1 |
14-71444339-AGG-CAT | c.1285_1287delinsCAT | p.R429H | Missense | 6/36 | - | 1 |
14-71444339-AGG-TGT | c.1285_1287delinsTGT | p.R429C | Missense | 6/36 | - | 1 |
14-71444340-G-A | c.1286G>A | p.R429K | Missense | 6/36 | - | 1 |
14-71444339-A-C | c.1285A>C | p.R429= | Synonymous | 6/36 | - | 1 |
14-71444341-G-A | c.1287G>A | p.R429= | Synonymous | 6/36 | - | 1 |
14-71444345-A-C | c.1291A>C | p.K431Q | Missense | 6/36 | - | 1 |
14-71444348-G-A | c.1294G>A | p.E432K | Missense | 6/36 | - | 1 |
14-71444363-C-A | c.1309C>A | p.P437T | Missense | 6/36 | - | 1 |
14-71444364-C-A | c.1310C>A | p.P437Q | Missense | 6/36 | - | 1 |
14-71444367-A-G | c.1313A>G | p.E438G | Missense | 6/36 | - | 3 |
14-71444369-GAGA-G | c.1320_1322del | p.K440del | InFrameDeletion | 6/36 | - | 1 |
14-71444377-T-A | c.1323T>A | p.N441K | Missense | 6/36 | - | 1 |
14-71444377-T-G | c.1323T>G | p.N441K | Missense | 6/36 | - | 1 |
14-71444381-T-C | c.1327T>C | p.C443R | Missense | 6/36 | - | 1 |
14-71444387-AG-CC | c.1333_1334delinsCC | p.S445P | Missense | 6/36 | - | 1 |
14-71444403-G-T | c.1349G>T | p.S450I | Missense | 6/36 | - | 1 |
14-71444408-G-T | c.1354G>T | p.E452* | Nonsense | 6/36 | - | 1 |
14-71444411-A-G | c.1357A>G | p.K453E | Missense | 6/36 | - | 1 |
14-71444412-A-T | c.1358A>T | p.K453M | Missense | 6/36 | - | 1 |
14-71444413-G-C | c.1359G>C | p.K453N | Missense | 6/36 | - | 1 |
14-71444418-C-A | c.1364C>A | p.A455D | Missense | 6/36 | - | 1 |
14-71444420-A-G | c.1366A>G | p.M456V | Missense | 6/36 | - | 1 |
14-71444427-C-G | c.1373C>G | p.A458G | Missense | 6/36 | - | 1 |
14-71444427-C-T | c.1373C>T | p.A458V | Missense | 6/36 | - | 1 |
14-71444428-G-A | c.1374G>A | p.A458= | Synonymous | 6/36 | - | 1 |
14-71444433-CC-GG | c.1379_1380inv | p.T460R | Missense | 6/36 | - | 1 |
14-71444433-CC-TG | c.1379_1380delinsTG | p.T460M | Missense | 6/36 | - | 1 |
14-71444437-C-T | c.1383C>T | p.N461= | Synonymous | 6/36 | - | 1 |
14-71444442-G-A | c.1388G>A | p.G463E | Missense | 6/36 | - | 1 |
14-71444444-G-A | c.1390G>A | p.V464I | Missense | 6/36 | - | 4 |
14-71444450-G-A | c.1396G>A | p.E466K | Missense | 6/36 | - | 4 |
14-71444450-G-C | c.1396G>C | p.E466Q | Missense | 6/36 | - | 1 |
14-71444459-G-T | c.1405G>T | p.D469Y | Missense | 6/36 | - | 1 |
14-71444465-A-T | c.1411A>T | p.T471S | Missense | 6/36 | - | 3 |
14-71444466-C-G | c.1412C>G | p.T471S | Missense | 6/36 | - | 6 |
14-71444468-C-G | c.1414C>G | p.P472A | Missense | 6/36 | - | 1 |
14-71444468-C-T | c.1414C>T | p.P472S | Missense | 6/36 | - | 3 |
14-71444465-AC-A | c.1416del | p.S473Lfs*77 | Frameshift | 6/36 | - | 1 |
14-71444472-C-T | c.1418C>T | p.S473F | Missense | 6/36 | - | 1 |
14-71444472-TC-T | c.1418del | p.S473Lfs*77 | Frameshift | 6/36 | - | 2 |
14-71444473-T-C | c.1419T>C | p.S473= | Synonymous | 6/36 | - | 1 |
14-71444474-G-A | c.1420G>A | p.D474N | Missense | 6/36 | - | 1 |
14-71444475-A-G | c.1421A>G | p.D474G | Missense | 6/36 | - | 1 |
14-71444483-C-T | c.1429C>T | p.H477Y | Missense | 6/36 | - | 1 |
14-71444492-A-C | c.1438A>C | p.R480= | Synonymous | 6/36 | - | 1 |
14-71444492-GAGA-G | c.1438_1440del | p.R480del | InFrameDeletion | 6/36 | - | 1 |
14-71444495-G-A | c.1441G>A | p.G481S | Missense | 6/36 | - | 1 |
14-71444498-C-T | c.1444C>T | p.L482F | Missense | 6/36 | - | 1 |
14-71444504-A-G | c.1450A>G | p.T484A | Missense | 6/36 | - | 1 |
14-71444508-C-T | c.1454C>T | p.S485F | Missense | 6/36 | - | 4 |
14-71444514-C-A | c.1460C>A | p.S487Y | Missense | 6/36 | - | 3 |
14-71444514-C-G | c.1460C>G | p.S487C | Missense | 6/36 | - | 1 |
14-71444523-C-T | c.1469C>T | p.A490V | Missense | 6/36 | - | 1 |
14-71444524-C-A | c.1470C>A | p.A490= | Synonymous | 6/36 | - | 1 |
14-71444524-C-G | c.1470C>G | p.A490= | Synonymous | 6/36 | - | 1 |
14-71444524-C-T | c.1470C>T | p.A490= | Synonymous | 6/36 | - | 1 |
14-71444527-T-A | c.1473T>A | p.N491K | Missense | 6/36 | - | 1 |
14-71444527-T-G | c.1473T>G | p.N491K | Missense | 6/36 | - | 1 |
14-71444534-C-T | c.1480C>T | p.P494S | Missense | 6/36 | - | 2 |
14-71444535-C-T | c.1481C>T | p.P494L | Missense | 6/36 | - | 3 |
14-71444536-C-T | c.1482C>T | p.P494= | Synonymous | 6/36 | - | 1 |
14-71444537-C-T | c.1483C>T | p.H495Y | Missense | 6/36 | - | 2 |
14-71444544-A-G | c.1490A>G | p.N497S | Missense | 6/36 | - | 1 |
14-71444546-G-A | c.1492G>A | p.E498K | Missense | 6/36 | - | 1 |
14-71444555-T-C | c.1501T>C | p.S501P | Missense | 6/36 | - | 1 |
14-71444561-G-T | c.1507G>T | p.G503W | Missense | 6/36 | - | 1 |
14-71444562-G-A | c.1508G>A | p.G503E | Missense | 6/36 | - | 4 |
14-71444562-G-C | c.1508G>C | p.G503A | Missense | 6/36 | - | 1 |
14-71444562-G-T | c.1508G>T | p.G503V | Missense | 6/36 | - | 1 |
14-71444565-A-T | c.1511A>T | p.D504V | Missense | 6/36 | - | 1 |
14-71444567-A-T | c.1513A>T | p.R505* | Nonsense | 6/36 | - | 1 |
14-71444568-G-A | c.1514G>A | p.R505K | Missense | 6/36 | - | 1 |
14-71444569-A-T | c.1515A>T | p.R505S | Missense | 6/36 | - | 1 |
14-71444571-C-A | c.1517C>A | p.P506Q | Missense | 6/36 | - | 1 |
14-71444574-C-T | c.1520C>T | p.P507L | Missense | 6/36 | - | 1 |
14-71444577-G-A | c.1523G>A | p.G508E | Missense | 6/36 | - | 1 |
14-71444579-A-G | c.1525A>G | p.N509D | Missense | 6/36 | - | 1 |
14-71444583-C-G | c.1529C>G | p.T510S | Missense | 6/36 | - | 1 |
14-71444583-C-T | c.1529C>T | p.T510I | Missense | 6/36 | - | 1 |
14-71444592-A-G | c.1538A>G | p.N513S | Missense | 6/36 | - | 1 |
14-71444593-C-T | c.1539C>T | p.N513= | Synonymous | 6/36 | - | 2 |
14-71444603-A-G | c.1549A>G | p.K517E | Missense | 6/36 | - | 1 |
14-71444606-AG-TT | c.1552_1553delinsTT | p.S518F | Missense | 6/36 | - | 1 |
14-71444606-A-C | c.1552A>C | p.S518R | Missense | 6/36 | - | 1 |
14-71444608-T-A | c.1554T>A | p.S518R | Missense | 6/36 | - | 1 |
14-71444608-T-G | c.1554T>G | p.S518R | Missense | 6/36 | - | 1 |
14-71444618-G-C | c.1564G>C | p.A522P | Missense | 6/36 | - | 1 |
14-71444619-C-G | c.1565C>G | p.A522G | Missense | 6/36 | - | 1 |
14-71444620-T-C | c.1566T>C | p.A522= | Synonymous | 6/36 | - | 1 |
14-71444635-C-T | c.1581C>T | p.S527= | Synonymous | 6/36 | - | 1 |
14-71444642-C-T | c.1588C>T | p.R530C | Missense | 6/36 | - | 3 |
14-71444643-G-A | c.1589G>A | p.R530H | Missense | 6/36 | - | 2 |
14-71444652-T-C | c.1598T>C | p.V533A | Missense | 6/36 | - | 1 |
14-71444658-GA-AC | c.1604_1605delinsAC | p.G535D | Missense | 6/36 | - | 1 |
14-71444679-T-A | c.1625T>A | p.V542D | Missense | 6/36 | - | 3 |
14-71444681-C-G | c.1627C>G | p.R543G | Missense | 6/36 | - | 1 |
14-71444681-C-T | c.1627C>T | p.R543* | Nonsense | 6/36 | - | 1 |
14-71444682-G-A | c.1628G>A | p.R543Q | Missense | 6/36 | - | 2 |
14-71444682-G-T | c.1628G>T | p.R543L | Missense | 6/36 | - | 1 |
14-71444685-C-T | c.1631C>T | p.P544L | Missense | 6/36 | - | 3 |
14-71444687-A-G | c.1633A>G | p.K545E | Missense | 6/36 | - | 1 |
14-71444691-C-A | c.1637C>A | p.S546Y | Missense | 6/36 | - | 1 |
14-71444691-C-T | c.1637C>T | p.S546F | Missense | 6/36 | - | 4 |
14-71444696-AGC-TGA | c.1642_1644delinsTGA | p.S548* | Nonsense | 6/36 | - | 1 |
14-71444699-G-A | c.1645G>A | p.V549I | Missense | 6/36 | - | 6 |
14-71444706-A-G | c.1652A>G | p.H551R | Missense | 6/36 | - | 1 |
14-71444708-C-T | c.1654C>T | p.R552W | Missense | 6/36 | - | 1 |
14-71444726-A-T | c.1672A>T | p.K558* | Nonsense | 6/36 | - | 1 |
14-71444730-C-G | c.1676C>G | p.S559* | Nonsense | 6/36 | - | 1 |
14-71444731-A-C | c.1677A>C | p.S559= | Synonymous | 6/36 | - | 1 |
14-71444731-A-G | c.1677A>G | p.S559= | Synonymous | 6/36 | - | 1 |
14-71444731-A-T | c.1677A>T | p.S559= | Synonymous | 6/36 | - | 1 |
14-71444741-C-T | c.1687C>T | p.R563C | Missense | 6/36 | - | 1 |
14-71444742-G-A | c.1688G>A | p.R563H | Missense | 6/36 | - | 2 |
14-71444746-A-C | c.1692A>C | p.T564= | Synonymous | 6/36 | - | 1 |
14-71444746-A-G | c.1692A>G | p.T564= | Synonymous | 6/36 | - | 1 |
14-71444746-A-T | c.1692A>T | p.T564= | Synonymous | 6/36 | - | 1 |
14-71444747-G-A | c.1693G>A | p.G565R | Missense | 6/36 | - | 1 |
14-71444750-A-G | c.1696A>G | p.K566E | Missense | 6/36 | - | 1 |
14-71444752-A-G | c.1698A>G | p.K566= | Synonymous | 6/36 | - | 1 |
14-71444753-A-C | c.1699A>C | p.K567Q | Missense | 6/36 | - | 1 |
14-71444748-GA-G | c.1701del | p.K567Nfs*42 | Frameshift | 6/36 | - | 5 |
14-71444748-G-GA | c.1701dup | p.R568Tfs*3 | Frameshift | 6/36 | - | 2 |
14-71444756-C-T | c.1702C>T | p.R568W | Missense | 6/36 | - | 1 |
14-71444757-G-A | c.1703G>A | p.R568Q | Missense | 6/36 | - | 2 |
14-71444758-G-C | c.1704G>C | p.R568= | Synonymous | 6/36 | - | 1 |
14-71444759-G-T | c.1705G>T | p.A569S | Missense | 6/36 | - | 1 |
14-71444760-CT-AG | c.1706_1707inv | p.A569E | Missense | 6/36 | - | 1 |
14-71444762-AG-TT | c.1708_1709delinsTT | p.S570F | Missense | 6/36 | - | 1 |
14-71444763-G-T | c.1709G>T | p.S570I | Missense | 6/36 | - | 1 |
14-71444766-G-A | c.1712G>A | p.S571N | Missense | 6/36 | - | 4 |
14-71444774-T-C | c.1720T>C | p.S574P | Missense | 6/36 | - | 2 |
14-71444775-C-A | c.1721C>A | p.S574* | Nonsense | 6/36 | - | 3 |
14-71444780-C-G | c.1726C>G | p.R576G | Missense | 6/36 | - | 1 |
14-71444780-C-T | c.1726C>T | p.R576W | Missense | 6/36 | - | 3 |
14-71444781-G-A | c.1727G>A | p.R576Q | Missense | 6/36 | - | 1 |
14-71444786-A-C | c.1732A>C | p.R578= | Synonymous | 6/36 | - | 2 |
14-71444786-AG-CT | c.1732_1733inv | p.R578L | Missense | 6/36 | - | 1 |
14-71444787-G-T | c.1733G>T | p.R578M | Missense | 6/36 | - | 1 |
14-71444788-G-A | c.1734G>A | p.R578= | Synonymous | 6/36 | - | 18 |
14-71444790-A-T | c.1736A>T | p.D579V | Missense | 6/36 | - | 1 |
14-71444793-A-G | c.1739A>G | p.Y580C | Missense | 6/36 | - | 3 |
14-71444795-G-A | c.1741G>A | p.V581I | Missense | 6/36 | - | 1 |
14-71444804-C-T | c.1750C>T | p.R584* | Nonsense | 6/36 | - | 1 |
14-71444805-G-A | c.1751G>A | p.R584Q | Missense | 6/36 | - | 3 |
14-71444805-G-T | c.1751G>T | p.R584L | Missense | 6/36 | - | 2 |
14-71444809-T-A | c.1755T>A | p.G585= | Synonymous | 6/36 | - | 1 |
14-71444809-T-C | c.1755T>C | p.G585= | Synonymous | 6/36 | - | 1 |
14-71444809-T-G | c.1755T>G | p.G585= | Synonymous | 6/36 | - | 1 |
14-71444810-G-A | c.1756G>A | p.V586I | Missense | 6/36 | - | 1 |
14-71444814-C-T | c.1760C>T | p.S587F | Missense | 6/36 | - | 5 |
14-71444817-G-T | c.1763G>T | p.G588V | Missense | 6/36 | - | 2 |
14-71444817-GT-AG | c.1763_1764delinsAG | p.G588E | Missense | 6/36 | - | 2 |
14-71444819-A-G | c.1765A>G | p.T589A | Missense | 6/36 | - | 2 |
14-71444819-A-T | c.1765A>T | p.T589S | Missense | 6/36 | - | 1 |
14-71444820-C-G | c.1766C>G | p.T589S | Missense | 6/36 | - | 1 |
14-71444821-C-G | c.1767C>G | p.T589= | Synonymous | 6/36 | - | 1 |
14-71444825-C-T | c.1771C>T | p.P591S | Missense | 6/36 | - | 1 |
14-71444826-C-A | c.1772C>A | p.P591Q | Missense | 6/36 | - | 1 |
14-71444826-C-T | c.1772C>T | p.P591L | Missense | 6/36 | - | 4 |
14-71444834-G-A | c.1780G>A | p.A594T | Missense | 6/36 | - | 11 |
14-71444836-T-A | c.1782T>A | p.A594= | Synonymous | 6/36 | - | 2 |
14-71444836-T-C | c.1782T>C | p.A594= | Synonymous | 6/36 | - | 2 |
14-71444836-T-G | c.1782T>G | p.A594= | Synonymous | 6/36 | - | 2 |
14-71444840-T-G | c.1786T>G | p.F596V | Missense | 6/36 | - | 1 |
14-71444843-TG-AC | c.1789_1790delinsAC | p.C597T | Missense | 6/36 | - | 1 |
14-71444846-C-G | c.1792C>G | p.H598D | Missense | 6/36 | - | 1 |
14-71444846-C-T | c.1792C>T | p.H598Y | Missense | 6/36 | - | 3 |
14-71444852-G-A | c.1798G>A | p.E600K | Missense | 6/36 | - | 1 |
14-71444858-CTCTA-C | c.1804_1807del | p.S602Vfs*6 | Frameshift | 6/36 | - | 1 |
14-71444856-ACT-A | c.1805_1806del | p.S602* | Frameshift | 6/36 | - | 2 |
14-71444859-C-G | c.1805C>G | p.S602C | Missense | 6/36 | - | 2 |
14-71444873-G-A | c.1819G>A | p.D607N | Missense | 6/36 | - | 1 |
14-71444874-A-C | c.1820A>C | p.D607A | Missense | 6/36 | - | 1 |
14-71444880-G-A | c.1826G>A | p.S609N | Missense | 6/36 | - | 1 |
14-71444881-T-C | c.1827T>C | p.S609= | Synonymous | 6/36 | - | 2 |
14-71444891-A-G | c.1837A>G | p.S613G | Missense | 6/36 | - | 2 |
14-71444898-A-C | c.1844A>C | p.Q615P | Missense | 6/36 | - | 2 |
14-71444909-C-G | c.1855C>G | p.Q619E | Missense | 6/36 | - | 1 |
14-71444910-CA-C | c.1856del | p.Q619Rfs*25 | Frameshift | 6/36 | - | 2 |
14-71444940-C-A | c.1886C>A | p.T629N | Missense | 6/36 | - | 1 |
14-71444945-C-A | c.1891C>A | p.H631N | Missense | 6/36 | - | 1 |
14-71444949-C-T | c.1895C>T | p.S632F | Missense | 6/36 | - | 6 |
14-71444950-C-T | c.1896C>T | p.S632= | Synonymous | 6/36 | - | 1 |
14-71444954-TCA-T | c.1900_1901del | p.Q634Vfs*3 | Frameshift | 6/36 | - | 2 |
14-71444958-C-G | c.1904C>G | p.S635C | Missense | 6/36 | - | 2 |
14-71444959-T-C | c.1905T>C | p.S635= | Synonymous | 6/36 | - | 1 |
14-71444960-C-T | c.1906C>T | p.P636S | Missense | 6/36 | - | 3 |
14-71444964-A-C | c.1910A>C | p.E637A | Missense | 6/36 | - | 3 |
14-71444965-G-A | c.1911G>A | p.E637= | Synonymous | 6/36 | - | 3 |
14-71444966-G-T | c.1912G>T | p.G638C | Missense | 6/36 | - | 1 |
14-71444974-C-A | c.1920C>A | p.Y640* | Nonsense | 6/36 | - | 1 |
14-71444974-C-G | c.1920C>G | p.Y640* | Nonsense | 6/36 | - | 1 |
14-71444983-A-G | c.1929A>G | p.L643= | Synonymous | 6/36 | - | 1 |
14-71445005-G-A | c.1951G>A | p.E651K | Missense | 6/36 | - | 1 |
14-71445008-AGG-CAT | c.1954_1956delinsCAT | p.R652H | Missense | 6/36 | - | 1 |
14-71445008-A-C | c.1954A>C | p.R652= | Synonymous | 6/36 | - | 1 |
14-71445010-G-A | c.1956G>A | p.R652= | Synonymous | 6/36 | - | 1 |
14-71445010-G-C | c.1956G>C | p.R652S | Missense | 6/36 | - | 1 |
14-71445010-G-T | c.1956G>T | p.R652S | Missense | 6/36 | - | 1 |
14-71445011-G-C | c.1957G>C | p.G653R | Missense | 6/36 | - | 1 |
14-71445019-C-G | c.1965C>G | p.D655E | Missense | 6/36 | - | 1 |
14-71445028-C-T | c.1974C>T | p.H658= | Synonymous | 6/36 | - | 1 |
14-71445031-A-T | c.1977A>T | p.T659= | Synonymous | 6/36 | - | 2 |
14-71445024-AAC-A | c.1980_1981del | p.H660Qfs*7 | Frameshift | 6/36 | - | 1 |
14-71445042-A-C | c.1988A>C | p.H663P | Missense | 6/36 | - | 1 |
14-71445050-C-T | c.1996C>T | p.P666S | Missense | 6/36 | - | 2 |
14-71445051-C-T | c.1997C>T | p.P666L | Missense | 6/36 | - | 2 |
14-71445053-GA-TC | c.1999_2000inv | p.E667S | Missense | 6/36 | - | 1 |
14-71445053-G-T | c.1999G>T | p.E667* | Nonsense | 6/36 | - | 2 |
14-71445054-A-C | c.2000A>C | p.E667A | Missense | 6/36 | - | 2 |
14-71445057-G-A | c.2003G>A | p.G668E | Missense | 6/36 | - | 1 |
14-71445057-G-C | c.2003G>C | p.G668A | Missense | 6/36 | - | 1 |
14-71445061-C-T | c.2007C>T | p.T669= | Synonymous | 6/36 | - | 1 |
14-71445062-A-C | c.2008A>C | p.S670R | Missense | 6/36 | - | 1 |
14-71445064-C-A | c.2010C>A | p.S670R | Missense | 6/36 | - | 1 |
14-71445064-C-G | c.2010C>G | p.S670R | Missense | 6/36 | - | 1 |
14-71445064-CA-C | c.2015del | p.K672Sfs*20 | Frameshift | 6/36 | - | 2 |
14-71445069-A-C | c.2015A>C | p.K672T | Missense | 6/36 | - | 2 |
14-71445070-G-A | c.2016G>A | p.K672= | Synonymous | 6/36 | - | 1 |
14-71445071-C-T | c.2017C>T | p.R673C | Missense | 6/36 | - | 2 |
14-71445072-G-A | c.2018G>A | p.R673H | Missense | 6/36 | - | 1 |
14-71445072-G-T | c.2018G>T | p.R673L | Missense | 6/36 | - | 1 |
14-71445077-A-G | c.2023A>G | p.T675A | Missense | 6/36 | - | 1 |
14-71445080-C-A | c.2026C>A | p.R676= | Synonymous | 6/36 | - | 1 |
14-71445082-A-C | c.2028A>C | p.R676= | Synonymous | 6/36 | - | 1 |
14-71445082-A-G | c.2028A>G | p.R676= | Synonymous | 6/36 | - | 1 |
14-71445082-A-T | c.2028A>T | p.R676= | Synonymous | 6/36 | - | 1 |
14-71445081-G-A | c.2027G>A | p.R676Q | Missense | 6/36 | - | 3 |
14-71445081-GA-AT | c.2027_2028delinsAT | p.R676H | Missense | 6/36 | - | 1 |
14-71445085-G-A | c.2031G>A | p.R677= | Synonymous | 6/36 | - | 1 |
14-71445090-C-G | c.2036C>G | p.S679C | Missense | 6/36 | - | 1 |
14-71445113-C-T | c.2059C>T | p.R687C | Missense | 6/36 | - | 2 |
14-71445117-C-T | c.2063C>T | p.A688V | Missense | 6/36 | - | 1 |
14-71445118-C-T | c.2064C>T | p.A688= | Synonymous | 6/36 | - | 1 |
14-71445119-C-A | c.2065C>A | p.R689= | Synonymous | 6/36 | - | 1 |
14-71445119-CG-AA | c.2065_2066delinsAA | p.R689K | Missense | 6/36 | - | 1 |
14-71445119-CGA-TTT | c.2065_2067delinsTTT | p.R689F | Missense | 6/36 | - | 1 |
14-71445119-C-T | c.2065C>T | p.R689* | Nonsense | 6/36 | - | 1 |
14-71445121-A-C | c.2067A>C | p.R689= | Synonymous | 6/36 | - | 1 |
14-71445121-A-G | c.2067A>G | p.R689= | Synonymous | 6/36 | - | 1 |
14-71445121-A-T | c.2067A>T | p.R689= | Synonymous | 6/36 | - | 1 |
14-71445120-G-T | c.2066G>T | p.R689L | Missense | 6/36 | - | 2 |
14-71445131-C-T | c.2077C>T | p.L693= | Synonymous | 6/36 | - | 1 |
14-71445133-G-A | c.2079G>A | p.L693= | Synonymous | 6/36 | - | 1 |
14-71445133-G-C | c.2079G>C | p.L693= | Synonymous | 6/36 | - | 1 |
14-71445133-G-T | c.2079G>T | p.L693= | Synonymous | 6/36 | - | 1 |
14-71445138-G-A | c.2084G>A | p.S695N | Missense | 6/36 | - | 1 |
14-71445146-G-A | c.2092G>A | p.V698I | Missense | 6/36 | - | 1 |
14-71445149-G-T | c.2095G>T | p.A699S | Missense | 6/36 | - | 1 |
14-71445150-C-T | c.2096C>T | p.A699V | Missense | 6/36 | - | 1 |
14-71445152-TG-AC | c.2098_2099delinsAC | p.C700T | Missense | 6/36 | - | 1 |
14-71445160-T-A | c.2106T>A | p.N702K | Missense | 6/36 | - | 1 |
14-71445160-T-G | c.2106T>G | p.N702K | Missense | 6/36 | - | 1 |
14-71445168-A-G | c.2114A>G | p.N705S | Missense | 6/36 | - | 1 |
14-71445170-AG-CA | c.2116_2117delinsCA | p.R706Q | Missense | 6/36 | - | 2 |
14-71445172-G-A | c.2118G>A | p.R706= | Synonymous | 6/36 | - | 1 |
14-71445177-T-A | c.2123T>A | p.M708K | Missense | 6/36 | - | 1 |
14-71445182-C-T | c.2128C>T | p.P710S | Missense | 6/36 | - | 2 |
14-71445183-C-T | c.2129C>T | p.P710L | Missense | 6/36 | - | 1 |
14-71445184-T-A | c.2130T>A | p.P710= | Synonymous | 6/36 | - | 1 |
14-71445184-T-C | c.2130T>C | p.P710= | Synonymous | 6/36 | - | 1 |
14-71445184-T-G | c.2130T>G | p.P710= | Synonymous | 6/36 | - | 1 |
14-71445185-G-A | c.2131G>A | p.E711K | Missense | 6/36 | - | 1 |
14-71445189-G-A | c.2135G>A | p.S712N | Missense | 6/36 | - | 3 |
14-71445197-C-A | c.2143C>A | p.P715T | Missense | 6/36 | - | 1 |
14-71445199-CT-C | c.2147del | p.L716* | Frameshift | 6/36 | - | 1 |
14-71445204-C-T | c.2150C>T | p.T717I | Missense | 6/36 | - | 1 |
14-71445206-ACT-TAA | c.2152_2154delinsTAA | p.T718* | Nonsense | 6/36 | - | 1 |
14-71445210-C-A | c.2156C>A | p.S719* | Nonsense | 6/36 | - | 1 |
14-71445210-C-G | c.2156C>G | p.S719* | Nonsense | 6/36 | - | 2 |
14-71445210-C-T | c.2156C>T | p.S719L | Missense | 6/36 | - | 1 |
14-71445221-C-A | c.2167C>A | p.L723I | Missense | 6/36 | - | 3 |
14-71445226-G-A | c.2172G>A | p.E724= | Synonymous | 6/36 | - | 1 |
14-71445228-C-A | c.2174C>A | p.A725D | Missense | 6/36 | - | 1 |
14-71445230-CAAA-C | c.2176_2178del | p.K726del | InFrameDeletion | 6/36 | - | 1 |
14-71445235-G-A | c.2181G>A | p.E727= | Synonymous | 6/36 | - | 3 |
14-71445245-C-T | c.2191C>T | p.L731= | Synonymous | 6/36 | - | 1 |
14-71445247-A-C | c.2193A>C | p.L731= | Synonymous | 6/36 | - | 1 |
14-71445247-A-G | c.2193A>G | p.L731= | Synonymous | 6/36 | - | 2 |
14-71445247-A-T | c.2193A>T | p.L731= | Synonymous | 6/36 | - | 1 |
14-71445250-T-A | c.2196T>A | p.D732E | Missense | 6/36 | - | 1 |
14-71445250-T-G | c.2196T>G | p.D732E | Missense | 6/36 | - | 1 |
14-71445258-C-G | c.2204C>G | p.S735C | Missense | 6/36 | - | 1 |
14-71445264-T-A | c.2210T>A | p.L737* | Nonsense | 6/36 | - | 1 |
14-71445264-T-G | c.2210T>G | p.L737* | Nonsense | 6/36 | - | 1 |
14-71445269-C-T | c.2215C>T | p.R739W | Missense | 6/36 | - | 2 |
14-71445270-G-A | c.2216G>A | p.R739Q | Missense | 6/36 | - | 1 |
14-71445272-G-T | c.2218G>T | p.A740S | Missense | 6/36 | - | 1 |
14-71445273-C-A | c.2219C>A | p.A740D | Missense | 6/36 | - | 6 |
14-71445276-C-T | c.2222C>T | p.S741F | Missense | 6/36 | - | 2 |
14-71445278-C-T | c.2224C>T | p.Q742* | Nonsense | 6/36 | - | 1 |
14-71445280-G-A | c.2226G>A | p.Q742= | Synonymous | 6/36 | - | 1 |
14-71445284-G-T | c.2230G>T | p.E744* | Nonsense | 6/36 | - | 1 |
14-71445286-G-T | c.2232G>T | p.E744D | Missense | 6/36 | - | 2 |
14-71445294-C-T | c.2240C>T | p.T747I | Missense | 6/36 | - | 1 |
14-71445296-C-T | c.2242C>T | p.R748* | Nonsense | 6/36 | - | 1 |
14-71445297-G-A | c.2243G>A | p.R748Q | Missense | 6/36 | - | 3 |
14-71445300-C-T | c.2246C>T | p.S749F | Missense | 6/36 | - | 1 |
14-71445314-C-A | c.2260C>A | p.P754T | Missense | 6/36 | - | 1 |
14-71445314-C-T | c.2260C>T | p.P754S | Missense | 6/36 | - | 1 |
14-71445317-A-C | c.2263A>C | p.N755H | Missense | 6/36 | - | 2 |
14-71445318-A-G | c.2264A>G | p.N755S | Missense | 6/36 | - | 2 |
14-71445326-G-A | c.2272G>A | p.A758T | Missense | 6/36 | - | 1 |
14-71445326-GC-AA | c.2272_2273delinsAA | p.A758K | Missense | 6/36 | - | 1 |
14-71445327-C-A | c.2273C>A | p.A758E | Missense | 6/36 | - | 1 |
14-71445332-C-T | c.2278C>T | p.P760S | Missense | 6/36 | - | 1 |
14-71445340-G-GT | c.2286_2287insT | p.E763* | Nonsense | 6/36 | - | 1 |
14-71445337-AG-A | c.2287del | p.E763Kfs*52 | Frameshift | 6/36 | - | 2 |
14-71445344-G-A | c.2290G>A | p.E764K | Missense | 6/36 | - | 1 |
14-71445351-A-G | c.2297A>G | p.D766G | Missense | 6/36 | - | 1 |
14-71445353-G-A | c.2299G>A | p.A767T | Missense | 6/36 | - | 1 |
14-71445354-C-T | c.2300C>T | p.A767V | Missense | 6/36 | - | 1 |
14-71445356-G-A | c.2302G>A | p.V768I | Missense | 6/36 | - | 1 |
14-71445358-C-A | c.2304C>A | p.V768= | Synonymous | 6/36 | - | 1 |
14-71445358-C-G | c.2304C>G | p.V768= | Synonymous | 6/36 | - | 1 |
14-71445358-C-T | c.2304C>T | p.V768= | Synonymous | 6/36 | - | 2 |
14-71445392-T-C | c.2311+27T>C | - | IntronicSNV | - | 6/35 | 1 |
14-71445413-A-C | c.2311+48A>C | - | IntronicSNV | - | 6/35 | 3 |
14-71445413-A-G | c.2311+48A>G | - | IntronicSNV | - | 6/35 | 6 |
14-71445413-A-T | c.2311+48A>T | - | IntronicSNV | - | 6/35 | 3 |
14-71445480-T-C | c.2311+115T>C | - | IntronicSNV | - | 6/35 | 1 |
14-71451265-G-A | c.2312-4019G>A | - | IntronicSNV | - | 6/35 | 2 |
14-71455189-C-T | c.2312-95C>T | - | IntronicSNV | - | 6/35 | 1 |
14-71455292-G-A | c.2320G>A | p.A774T | Missense | 7/36 | - | 2 |
14-71455294-C-A | c.2322C>A | p.A774= | Synonymous | 7/36 | - | 1 |
14-71455295-AG-TT | c.2323_2324delinsTT | p.S775F | Missense | 7/36 | - | 1 |
14-71455298-G-A | c.2326G>A | p.E776K | Missense | 7/36 | - | 1 |
14-71455301-G-C | c.2329G>C | p.E777Q | Missense | 7/36 | - | 1 |
14-71455310-TCA-GCC | c.2338_2340delinsGCC | p.S780A | Missense | 7/36 | - | 1 |
14-71455310-T-G | c.2338T>G | p.S780A | Missense | 7/36 | - | 2 |
14-71455316-C-T | c.2344C>T | p.R782C | Missense | 7/36 | - | 6 |
14-71455317-G-A | c.2345G>A | p.R782H | Missense | 7/36 | - | 4 |
14-71455317-GC-AA | c.2345_2346delinsAA | p.R782Q | Missense | 7/36 | - | 1 |
14-71455317-G-T | c.2345G>T | p.R782L | Missense | 7/36 | - | 2 |
14-71455319-C-A | c.2347C>A | p.R783S | Missense | 7/36 | - | 1 |
14-71455319-C-T | c.2347C>T | p.R783C | Missense | 7/36 | - | 3 |
14-71455320-G-A | c.2348G>A | p.R783H | Missense | 7/36 | - | 1 |
14-71455325-CGC-TGA | c.2353_2355delinsTGA | p.R785* | Nonsense | 7/36 | - | 1 |
14-71455325-C-T | c.2353C>T | p.R785C | Missense | 7/36 | - | 1 |
14-71455326-G-A | c.2354G>A | p.R785H | Missense | 7/36 | - | 1 |
14-71455340-C-T | c.2368C>T | p.R790C | Missense | 7/36 | - | 1 |
14-71455341-G-A | c.2369G>A | p.R790H | Missense | 7/36 | - | 1 |
14-71455344-A-C | c.2372A>C | p.Q791P | Missense | 7/36 | - | 1 |
14-71455344-A-G | c.2372A>G | p.Q791R | Missense | 7/36 | - | 2 |
14-71455352-C-A | c.2380C>A | p.R794= | Synonymous | 7/36 | - | 2 |
14-71455352-C-T | c.2380C>T | p.R794W | Missense | 7/36 | - | 4 |
14-71455354-G-T | c.2382G>T | p.R794= | Synonymous | 7/36 | - | 2 |
14-71455354-G-A | c.2382G>A | p.R794= | Synonymous | 7/36 | - | 3 |
14-71455354-G-C | c.2382G>C | p.R794= | Synonymous | 7/36 | - | 3 |
14-71455356-G-A | c.2384G>A | p.R795H | Missense | 7/36 | - | 2 |
14-71455358-CGG-TGT | c.2386_2388delinsTGT | p.R796C | Missense | 7/36 | - | 1 |
14-71455358-C-T | c.2386C>T | p.R796W | Missense | 7/36 | - | 1 |
14-71455359-G-A | c.2387G>A | p.R796Q | Missense | 7/36 | - | 2 |
14-71455359-GG-AT | c.2387_2388delinsAT | p.R796H | Missense | 7/36 | - | 1 |
14-71455363-C-A | c.2391C>A | p.H797Q | Missense | 7/36 | - | 1 |
14-71455363-C-G | c.2391C>G | p.H797Q | Missense | 7/36 | - | 1 |
14-71455379-C-A | c.2407C>A | p.P803T | Missense | 7/36 | - | 1 |
14-71455380-C-A | c.2408C>A | p.P803H | Missense | 7/36 | - | 1 |
14-71455383-C-T | c.2411C>T | p.T804I | Missense | 7/36 | - | 4 |
14-71455390-T-C | c.2418T>C | p.P806= | Synonymous | 7/36 | - | 1 |
14-71455393-A-G | c.2421A>G | p.T807= | Synonymous | 7/36 | - | 1 |
14-71455397-C-A | c.2425C>A | p.L809I | Missense | 7/36 | - | 2 |
14-71455397-C-T | c.2425C>T | p.L809F | Missense | 7/36 | - | 3 |
14-71455399-C-A | c.2427C>A | p.L809= | Synonymous | 7/36 | - | 2 |
14-71455399-C-G | c.2427C>G | p.L809= | Synonymous | 7/36 | - | 3 |
14-71455399-C-T | c.2427C>T | p.L809= | Synonymous | 7/36 | - | 2 |
14-71455402-C-A | c.2430C>A | p.I810= | Synonymous | 7/36 | - | 1 |
14-71455402-C-T | c.2430C>T | p.I810= | Synonymous | 7/36 | - | 1 |
14-71455403-G-A | c.2431G>A | p.G811R | Missense | 7/36 | - | 4 |
14-71455403-G-C | c.2431G>C | p.G811R | Missense | 7/36 | - | 3 |
14-71455403-G-T | c.2431G>T | p.G811* | Nonsense | 7/36 | - | 1 |
14-71455404-G-C | c.2432G>C | p.G811A | Missense | 7/36 | - | 1 |
14-71455404-G-T | c.2432G>T | p.G811V | Missense | 7/36 | - | 1 |
14-71455405-A-C | c.2433A>C | p.G811= | Synonymous | 7/36 | - | 1 |
14-71455405-A-G | c.2433A>G | p.G811= | Synonymous | 7/36 | - | 1 |
14-71455405-A-T | c.2433A>T | p.G811= | Synonymous | 7/36 | - | 1 |
14-71455407-C-T | c.2435C>T | p.S812L | Missense | 7/36 | - | 1 |
14-71455408-A-C | c.2436A>C | p.S812= | Synonymous | 7/36 | - | 1 |
14-71455408-A-G | c.2436A>G | p.S812= | Synonymous | 7/36 | - | 1 |
14-71455408-A-T | c.2436A>T | p.S812= | Synonymous | 7/36 | - | 1 |
14-71455412-C-A | c.2440C>A | p.L814I | Missense | 7/36 | - | 3 |
14-71455412-C-T | c.2440C>T | p.L814= | Synonymous | 7/36 | - | 1 |
14-71455540-A-G | c.2444+124A>G | - | IntronicSNV | - | 7/35 | 6 |
14-71457319-T-A | c.2444+1903T>A | - | IntronicSNV | - | 7/35 | 1 |
14-71457513-T-C | c.2444+2097T>C | - | IntronicSNV | - | 7/35 | 1 |
14-71460519-C-T | c.2445-1939C>T | - | IntronicSNV | - | 7/35 | 1 |
14-71462463-A-T | c.2450A>T | p.Q817L | Missense | 8/36 | - | 1 |
14-71462464-A-T | c.2451A>T | p.Q817H | Missense | 8/36 | - | 1 |
14-71462469-G-T | c.2456G>T | p.G819V | Missense | 8/36 | - | 1 |
14-71462471-C-T | c.2458C>T | p.Q820* | Nonsense | 8/36 | - | 1 |
14-71462478-G-C | c.2465G>C | p.G822A | Missense | 8/36 | - | 1 |
14-71462479-C-G | c.2466C>G | p.G822= | Synonymous | 8/36 | - | 2 |
14-71462486-TC-GG | c.2473_2474delinsGG | p.S825G | Missense | 8/36 | - | 1 |
14-71462493-C-A | c.2480C>A | p.A827D | Missense | 8/36 | - | 1 |
14-71462493-C-G | c.2480C>G | p.A827G | Missense | 8/36 | - | 2 |
14-71462497-G-C | c.2484G>C | p.Q828H | Missense | 8/36 | - | 1 |
14-71462497-G-T | c.2484G>T | p.Q828H | Missense | 8/36 | - | 1 |
14-71462506-C-A | c.2493C>A | p.V831= | Synonymous | 8/36 | - | 1 |
14-71462507-C-T | c.2494C>T | p.Q832* | Nonsense | 8/36 | - | 2 |
14-71462511-C-T | c.2498C>T | p.S833F | Missense | 8/36 | - | 5 |
14-71462513-C-T | c.2500C>T | p.R834C | Missense | 8/36 | - | 1 |
14-71462515-C-A | c.2502C>A | p.R834= | Synonymous | 8/36 | - | 1 |
14-71462515-C-G | c.2502C>G | p.R834= | Synonymous | 8/36 | - | 1 |
14-71462515-C-T | c.2502C>T | p.R834= | Synonymous | 8/36 | - | 1 |
14-71462514-GC-G | c.2507del | p.P836Lfs*15 | Frameshift | 8/36 | - | 1 |
14-71462526-A-G | c.2513A>G | p.Q838R | Missense | 8/36 | - | 1 |
14-71462531-G-A | c.2518G>A | p.A840T | Missense | 8/36 | - | 4 |
14-71462534-G-A | c.2521G>A | p.V841M | Missense | 8/36 | - | 1 |
14-71462537-C-G | c.2524C>G | p.L842V | Missense | 8/36 | - | 1 |
14-71462545-T-A | c.2532T>A | p.A844= | Synonymous | 8/36 | - | 1 |
14-71462545-T-C | c.2532T>C | p.A844= | Synonymous | 8/36 | - | 1 |
14-71462545-T-G | c.2532T>G | p.A844= | Synonymous | 8/36 | - | 1 |
14-71462546-AG-TT | c.2533_2534delinsTT | p.S845F | Missense | 8/36 | - | 3 |
14-71462569-T-A | c.2556T>A | p.N852K | Missense | 8/36 | - | 1 |
14-71462570-G-A | c.2557G>A | p.G853R | Missense | 8/36 | - | 1 |
14-71462571-G-T | c.2558G>T | p.G853V | Missense | 8/36 | - | 1 |
14-71462578-C-T | c.2565C>T | p.V855= | Synonymous | 8/36 | - | 1 |
14-71462600-A-C | c.2587A>C | p.N863H | Missense | 8/36 | - | 1 |
14-71462604-CA-AC | c.2591_2592delinsAC | p.A864D | Missense | 8/36 | - | 1 |
14-71462606-T-G | c.2593T>G | p.S865A | Missense | 8/36 | - | 1 |
14-71462617-C-T | c.2604C>T | p.G868= | Synonymous | 8/36 | - | 1 |
14-71462619-G-T | c.2606G>T | p.G869V | Missense | 8/36 | - | 1 |
14-71462624-A-G | c.2611A>G | p.S871G | Missense | 8/36 | - | 2 |
14-71462626-T-C | c.2613T>C | p.S871= | Synonymous | 8/36 | - | 4 |
14-71462632-C-A | c.2619C>A | p.H873Q | Missense | 8/36 | - | 1 |
14-71462632-C-G | c.2619C>G | p.H873Q | Missense | 8/36 | - | 2 |
14-71462636-G-A | c.2623G>A | p.E875K | Missense | 8/36 | - | 1 |
14-71462636-G-C | c.2623G>C | p.E875Q | Missense | 8/36 | - | 1 |
14-71462694-T-A | c.2629+52T>A | - | IntronicSNV | - | 8/35 | 1 |
14-71462759-T-C | c.2629+117T>C | - | IntronicSNV | - | 8/35 | 3 |
14-71462759-T-G | c.2629+117T>G | - | IntronicSNV | - | 8/35 | 5 |
14-71462957-T-A | c.2629+315T>A | - | IntronicSNV | - | 8/35 | 1 |
14-71463931-A-G | c.2629+1289A>G | - | IntronicSNV | - | 8/35 | 1 |
14-71464781-T-A | c.2629+2139T>A | - | IntronicSNV | - | 8/35 | 1 |
14-71464781-T-C | c.2629+2139T>C | - | IntronicSNV | - | 8/35 | 1 |
14-71466067-T-G | c.2629+3425T>G | - | IntronicSNV | - | 8/35 | 1 |
14-71466710-T-C | c.2629+4068T>C | - | IntronicSNV | - | 8/35 | 1 |
14-71468866-GCTGT-G | c.2629+6227_2629+6230del | - | IntronicDeletion | - | 8/35 | 1 |
14-71476356-T-C | c.2635T>C | p.F879L | Missense | 9/36 | - | 1 |
14-71476358-C-G | c.2637C>G | p.F879L | Missense | 9/36 | - | 1 |
14-71476358-C-A | c.2637C>A | p.F879L | Missense | 9/36 | - | 2 |
14-71476359-T-C | c.2638T>C | p.S880P | Missense | 9/36 | - | 1 |
14-71476364-T-A | c.2643T>A | p.S881= | Synonymous | 9/36 | - | 1 |
14-71476364-T-C | c.2643T>C | p.S881= | Synonymous | 9/36 | - | 1 |
14-71476364-T-G | c.2643T>G | p.S881= | Synonymous | 9/36 | - | 1 |
14-71476366-C-T | c.2645C>T | p.T882M | Missense | 9/36 | - | 3 |
14-71476367-G-T | c.2646G>T | p.T882= | Synonymous | 9/36 | - | 1 |
14-71476373-T-C | c.2652T>C | p.Y884= | Synonymous | 9/36 | - | 1 |
14-71476374-G-T | c.2653G>T | p.E885* | Nonsense | 9/36 | - | 1 |
14-71476387-G-T | c.2666G>T | p.C889F | Missense | 9/36 | - | 1 |
14-71476397-A-AT | c.2676_2677insT | p.L893Sfs*5 | Frameshift | 9/36 | - | 2 |
14-71476397-A-C | c.2676A>C | p.S892= | Synonymous | 9/36 | - | 1 |
14-71476397-A-G | c.2676A>G | p.S892= | Synonymous | 9/36 | - | 1 |
14-71476397-A-T | c.2676A>T | p.S892= | Synonymous | 9/36 | - | 1 |
14-71476406-T-C | c.2685T>C | p.N895= | Synonymous | 9/36 | - | 1 |
14-71476412-A-G | c.2691A>G | p.E897= | Synonymous | 9/36 | - | 3 |
14-71476422-AGA-CAT | c.2701_2703delinsCAT | p.R901H | Missense | 9/36 | - | 1 |
14-71476424-A-C | c.2703A>C | p.R901S | Missense | 9/36 | - | 1 |
14-71476424-A-T | c.2703A>T | p.R901S | Missense | 9/36 | - | 1 |
14-71476439-C-T | c.2718C>T | p.I906= | Synonymous | 9/36 | - | 1 |
14-71476490-A-T | c.2720+49A>T | - | IntronicSNV | - | 9/35 | 1 |
14-71476535-GT-G | c.2720+100del | - | IntronicDeletion | - | 9/35 | 1 |
14-71478210-G-A | c.2722G>A | p.D908N | Missense | 10/36 | - | 1 |
14-71478214-C-T | c.2726C>T | p.T909I | Missense | 10/36 | - | 1 |
14-71478220-C-G | c.2732C>G | p.S911C | Missense | 10/36 | - | 1 |
14-71478222-C-CT | c.2734_2735insT | p.H912Lfs*14 | Frameshift | 10/36 | - | 1 |
14-71478227-A-G | c.2739A>G | p.V913= | Synonymous | 10/36 | - | 1 |
14-71478233-T-C | c.2745T>C | p.S915= | Synonymous | 10/36 | - | 1 |
14-71478237-A-T | c.2749A>T | p.T917S | Missense | 10/36 | - | 1 |
14-71478238-C-G | c.2750C>G | p.T917S | Missense | 10/36 | - | 1 |
14-71478237-AC-A | c.2751del | p.S918Qfs*17 | Frameshift | 10/36 | - | 1 |
14-71478239-C-T | c.2751C>T | p.T917= | Synonymous | 10/36 | - | 1 |
14-71478241-C-T | c.2753C>T | p.S918L | Missense | 10/36 | - | 1 |
14-71478247-G-A | c.2759G>A | p.R920Q | Missense | 10/36 | - | 1 |
14-71479708-C-G | c.2785C>G | p.L929V | Missense | 11/36 | - | 2 |
14-71479710-C-T | c.2787C>T | p.L929= | Synonymous | 11/36 | - | 1 |
14-71479720-C-T | c.2797C>T | p.R933* | Nonsense | 11/36 | - | 1 |
14-71479724-T-C | c.2801T>C | p.L934S | Missense | 11/36 | - | 1 |
14-71479728-T-A | c.2805T>A | p.N935K | Missense | 11/36 | - | 1 |
14-71479728-T-C | c.2805T>C | p.N935= | Synonymous | 11/36 | - | 1 |
14-71479728-T-G | c.2805T>G | p.N935K | Missense | 11/36 | - | 1 |
14-71479732-C-A | c.2809C>A | p.L937I | Missense | 11/36 | - | 2 |
14-71479735-T-C | c.2812T>C | p.L938= | Synonymous | 11/36 | - | 1 |
14-71479737-G-A | c.2814G>A | p.L938= | Synonymous | 11/36 | - | 2 |
14-71479750-G-A | c.2827G>A | p.D943N | Missense | 11/36 | - | 1 |
14-71479761-G-A | c.2838G>A | p.E946= | Synonymous | 11/36 | - | 2 |
14-71479778-T-C | c.2855T>C | p.L952P | Missense | 11/36 | - | 1 |
14-71479786-G-A | c.2863G>A | p.D955N | Missense | 11/36 | - | 1 |
14-71479788-C-T | c.2865C>T | p.D955= | Synonymous | 11/36 | - | 1 |
14-71479796-C-T | c.2873C>T | p.A958V | Missense | 11/36 | - | 1 |
14-71479803-C-T | c.2880C>T | p.Y960= | Synonymous | 11/36 | - | 1 |
14-71479813-G-A | c.2890G>A | p.E964K | Missense | 11/36 | - | 4 |
14-71479819-G-A | c.2896G>A | p.A966T | Missense | 11/36 | - | 2 |
14-71479822-G-A | c.2899G>A | p.A967T | Missense | 11/36 | - | 1 |
14-71479825-C-T | c.2902C>T | p.Q968* | Nonsense | 11/36 | - | 1 |
14-71479826-A-G | c.2903A>G | p.Q968R | Missense | 11/36 | - | 1 |
14-71479841-A-G | c.2918A>G | p.Y973C | Missense | 11/36 | - | 1 |
14-71479847-G-A | c.2924G>A | p.R975H | Missense | 11/36 | - | 4 |
14-71479859-T-C | c.2936T>C | p.L979P | Missense | 11/36 | - | 1 |
14-71479861-C-G | c.2938C>G | p.P980A | Missense | 11/36 | - | 2 |
14-71479861-C-T | c.2938C>T | p.P980S | Missense | 11/36 | - | 1 |
14-71479863-C-T | c.2940C>T | p.P980= | Synonymous | 11/36 | - | 1 |
14-71479876-GGC-TGG | c.2953_2955delinsTGG | p.G985W | Missense | 11/36 | - | 1 |
14-71479876-G-T | c.2953G>T | p.G985C | Missense | 11/36 | - | 1 |
14-71479877-G-A | c.2954G>A | p.G985D | Missense | 11/36 | - | 2 |
14-71479882-A-G | c.2959A>G | p.N987D | Missense | 11/36 | - | 3 |
14-71479886-T-C | c.2963T>C | p.F988S | Missense | 11/36 | - | 1 |
14-71479890-C-G | c.2967C>G | p.D989E | Missense | 11/36 | - | 1 |
14-71479907-C-T | c.2984C>T | p.A995V | Missense | 11/36 | - | 1 |
14-71479909-C-T | c.2986C>T | p.L996= | Synonymous | 11/36 | - | 1 |
14-71479915-G-C | c.2992G>C | p.D998H | Missense | 11/36 | - | 1 |
14-71480279-G-T | c.2996+360G>T | - | IntronicSNV | - | 11/35 | 1 |
14-71485578-T-C | c.2997-148T>C | - | IntronicSNV | - | 11/35 | 1 |
14-71485692-A-C | c.2997-34A>C | - | IntronicSNV | - | 11/35 | 8 |
14-71485692-A-G | c.2997-34A>G | - | IntronicSNV | - | 11/35 | 8 |
14-71485692-A-T | c.2997-34A>T | - | IntronicSNV | - | 11/35 | 8 |
14-71485722-G-A | c.2997-4G>A | - | IntronicSNV | - | 11/35 | 1 |
14-71485722-G-T | c.2997-4G>T | - | IntronicSNV | - | 11/35 | 1 |
14-71485730-C-G | c.3001C>G | p.R1001G | Missense | 12/36 | - | 1 |
14-71485730-C-T | c.3001C>T | p.R1001C | Missense | 12/36 | - | 8 |
14-71485732-T-A | c.3003T>A | p.R1001= | Synonymous | 12/36 | - | 1 |
14-71485732-T-C | c.3003T>C | p.R1001= | Synonymous | 12/36 | - | 2 |
14-71485732-T-G | c.3003T>G | p.R1001= | Synonymous | 12/36 | - | 1 |
14-71485733-G-A | c.3004G>A | p.E1002K | Missense | 12/36 | - | 1 |
14-71485733-G-C | c.3004G>C | p.E1002Q | Missense | 12/36 | - | 2 |
14-71485735-G-A | c.3006G>A | p.E1002= | Synonymous | 12/36 | - | 1 |
14-71485739-C-T | c.3010C>T | p.L1004= | Synonymous | 12/36 | - | 2 |
14-71485741-G-A | c.3012G>A | p.L1004= | Synonymous | 12/36 | - | 2 |
14-71485741-G-C | c.3012G>C | p.L1004= | Synonymous | 12/36 | - | 2 |
14-71485741-G-T | c.3012G>T | p.L1004= | Synonymous | 12/36 | - | 2 |
14-71485742-G-T | c.3013G>T | p.E1005* | Nonsense | 12/36 | - | 1 |
14-71485747-T-C | c.3018T>C | p.N1006= | Synonymous | 12/36 | - | 1 |
14-71485748-G-A | c.3019G>A | p.V1007M | Missense | 12/36 | - | 2 |
14-71485751-T-G | c.3022T>G | p.L1008V | Missense | 12/36 | - | 1 |
14-71485752-T-C | c.3023T>C | p.L1008S | Missense | 12/36 | - | 1 |
14-71485759-C-T | c.3030C>T | p.V1010= | Synonymous | 12/36 | - | 1 |
14-71485767-C-T | c.3038C>T | p.A1013V | Missense | 12/36 | - | 1 |
14-71485769-A-T | c.3040A>T | p.I1014F | Missense | 12/36 | - | 1 |
14-71485772-C-T | c.3043C>T | p.L1015F | Missense | 12/36 | - | 1 |
14-71485774-C-G | c.3045C>G | p.L1015= | Synonymous | 12/36 | - | 1 |
14-71485775-G-A | c.3046G>A | p.V1016M | Missense | 12/36 | - | 1 |
14-71485777-G-T | c.3048G>T | p.V1016= | Synonymous | 12/36 | - | 1 |
14-71485779-C-G | c.3050C>G | p.A1017G | Missense | 12/36 | - | 2 |
14-71485780-C-A | c.3051C>A | p.A1017= | Synonymous | 12/36 | - | 1 |
14-71485782-T-C | c.3053T>C | p.F1018S | Missense | 12/36 | - | 1 |
14-71485783-T-C | c.3054T>C | p.F1018= | Synonymous | 12/36 | - | 2 |
14-71485780-C-CT | c.3056dup | p.L1019Ffs*32 | Frameshift | 12/36 | - | 1 |
14-71485787-G-A | c.3058G>A | p.G1020R | Missense | 12/36 | - | 2 |
14-71485788-G-A | c.3059G>A | p.G1020E | Missense | 12/36 | - | 3 |
14-71485788-GA-AC | c.3059_3060delinsAC | p.G1020D | Missense | 12/36 | - | 1 |
14-71485788-G-T | c.3059G>T | p.G1020V | Missense | 12/36 | - | 1 |
14-71485791-TC-T | c.3062del | p.S1021Lfs*21 | Frameshift | 12/36 | - | 1 |
14-71485796-C-G | c.3067C>G | p.L1023V | Missense | 12/36 | - | 3 |
14-71485796-C-T | c.3067C>T | p.L1023F | Missense | 12/36 | - | 2 |
14-71485805-C-T | c.3076C>T | p.Q1026* | Nonsense | 12/36 | - | 1 |
14-71485817-AGA-TGT | c.3088_3090delinsTGT | p.R1030C | Missense | 12/36 | - | 1 |
14-71485817-A-T | c.3088A>T | p.R1030* | Nonsense | 12/36 | - | 1 |
14-71485823-A-G | c.3094A>G | p.I1032V | Missense | 12/36 | - | 2 |
14-71485836-A-G | c.3107A>G | p.Q1036R | Missense | 12/36 | - | 1 |
14-71485840-C-T | c.3111C>T | p.F1037= | Synonymous | 12/36 | - | 1 |
14-71485841-TG-AC | c.3112_3113delinsAC | p.C1038T | Missense | 12/36 | - | 1 |
14-71485846-C-A | c.3117C>A | p.L1039= | Synonymous | 12/36 | - | 1 |
14-71485846-C-G | c.3117C>G | p.L1039= | Synonymous | 12/36 | - | 1 |
14-71485846-C-T | c.3117C>T | p.L1039= | Synonymous | 12/36 | - | 1 |
14-71485847-G-A | c.3118G>A | p.V1040I | Missense | 12/36 | - | 2 |
14-71485847-G-T | c.3118G>T | p.V1040F | Missense | 12/36 | - | 1 |
14-71485861-T-C | c.3132T>C | p.C1044= | Synonymous | 12/36 | - | 1 |
14-71485864-A-G | c.3135A>G | p.Q1045= | Synonymous | 12/36 | - | 1 |
14-71485865-T-A | c.3136T>A | p.Y1046N | Missense | 12/36 | - | 3 |
14-71485868-T-A | c.3139T>A | p.S1047T | Missense | 12/36 | - | 1 |
14-71485880-G-T | c.3150+1G>T | - | IntronicSNV | - | 12/35 | 2 |
14-71487927-A-AT | c.3151-1982dup | - | IntronicInsertion | - | 12/35 | 1 |
14-71489918-G-C | c.3152G>C | p.S1051T | Missense | 13/36 | - | 2 |
14-71489920-G-T | c.3154G>T | p.V1052F | Missense | 13/36 | - | 1 |
14-71489925-A-G | c.3159A>G | p.Q1053= | Synonymous | 13/36 | - | 2 |
14-71489933-C-T | c.3167C>T | p.S1056F | Missense | 13/36 | - | 1 |
14-71489934-T-G | c.3168T>G | p.S1056= | Synonymous | 13/36 | - | 1 |
14-71489936-C-G | c.3170C>G | p.S1057C | Missense | 13/36 | - | 1 |
14-71489939-C-G | c.3173C>G | p.S1058C | Missense | 13/36 | - | 1 |
14-71489941-C-T | c.3175C>T | p.P1059S | Missense | 13/36 | - | 1 |
14-71492837-C-A | c.3187C>A | p.H1063N | Missense | 14/36 | - | 1 |
14-71492840-A-G | c.3190A>G | p.N1064D | Missense | 14/36 | - | 1 |
14-71492843-CGT-TGG | c.3193_3195delinsTGG | p.R1065W | Missense | 14/36 | - | 1 |
14-71492843-C-T | c.3193C>T | p.R1065C | Missense | 14/36 | - | 2 |
14-71492844-G-A | c.3194G>A | p.R1065H | Missense | 14/36 | - | 5 |
14-71492861-AGA-TGG | c.3211_3213delinsTGG | p.R1071W | Missense | 14/36 | - | 1 |
14-71492862-G-A | c.3212G>A | p.R1071K | Missense | 14/36 | - | 2 |
14-71492865-C-A | c.3215C>A | p.P1072Q | Missense | 14/36 | - | 1 |
14-71492868-T-C | c.3218T>C | p.V1073A | Missense | 14/36 | - | 1 |
14-71492869-T-C | c.3219T>C | p.V1073= | Synonymous | 14/36 | - | 2 |
14-71492877-G-T | c.3227G>T | p.C1076F | Missense | 14/36 | - | 1 |
14-71492878-C-A | c.3228C>A | p.C1076* | Nonsense | 14/36 | - | 1 |
14-71492878-C-T | c.3228C>T | p.C1076= | Synonymous | 14/36 | - | 1 |
14-71492885-T-A | c.3235T>A | p.C1079S | Missense | 14/36 | - | 5 |
14-71492886-G-C | c.3236G>C | p.C1079S | Missense | 14/36 | - | 8 |
14-71492888-G-A | c.3238G>A | p.G1080S | Missense | 14/36 | - | 2 |
14-71492888-G-C | c.3238G>C | p.G1080R | Missense | 14/36 | - | 1 |
14-71492893-T-C | c.3243T>C | p.L1081= | Synonymous | 14/36 | - | 1 |
14-71492897-T-A | c.3247T>A | p.W1083R | Missense | 14/36 | - | 1 |
14-71492897-T-C | c.3247T>C | p.W1083R | Missense | 14/36 | - | 1 |
14-71492903-T-A | c.3253T>A | p.L1085M | Missense | 14/36 | - | 1 |
14-71492910-A-G | c.3260A>G | p.Y1087C | Missense | 14/36 | - | 1 |
14-71492912-G-A | c.3262G>A | p.G1088S | Missense | 14/36 | - | 1 |
14-71492916-G-A | c.3266G>A | p.S1089N | Missense | 14/36 | - | 1 |
14-71492921-A-G | c.3271A>G | p.N1091D | Missense | 14/36 | - | 1 |
14-71492933-A-G | c.3283A>G | p.T1095A | Missense | 14/36 | - | 1 |
14-71492941-C-A | c.3291C>A | p.F1097L | Missense | 14/36 | - | 1 |
14-71492943-A-G | c.3293A>G | p.K1098R | Missense | 14/36 | - | 1 |
14-71492947-A-C | c.3297A>C | p.L1099F | Missense | 14/36 | - | 1 |
14-71492947-A-T | c.3297A>T | p.L1099F | Missense | 14/36 | - | 1 |
14-71492954-A-C | c.3304A>C | p.I1102L | Missense | 14/36 | - | 3 |
14-71492954-A-T | c.3304A>T | p.I1102L | Missense | 14/36 | - | 2 |
14-71492957-A-C | c.3307A>C | p.T1103P | Missense | 14/36 | - | 1 |
14-71492977-G-A | c.3327G>A | p.V1109= | Synonymous | 14/36 | - | 1 |
14-71492977-G-C | c.3327G>C | p.V1109= | Synonymous | 14/36 | - | 1 |
14-71492977-G-T | c.3327G>T | p.V1109= | Synonymous | 14/36 | - | 1 |
14-71492985-C-T | c.3335C>T | p.S1112L | Missense | 14/36 | - | 1 |
14-71492991-G-T | c.3341G>T | p.R1114M | Missense | 14/36 | - | 4 |
14-71492992-G-A | c.3342G>A | p.R1114= | Synonymous | 14/36 | - | 1 |
14-71492994-A-T | c.3344A>T | p.D1115V | Missense | 14/36 | - | 1 |
14-71492999-G-A | c.3349G>A | p.V1117I | Missense | 14/36 | - | 1 |
14-71493005-G-A | c.3355G>A | p.V1119M | Missense | 14/36 | - | 1 |
14-71493489-GTGTTTACACTCTGTTTCCCA-G | c.3356_3375del | p.V1119Dfs*20 | SpliceAcceptorDeletion | 15/36 | - | 1 |
14-71493499-C-G | c.3366C>G | p.L1122= | Synonymous | 15/36 | - | 2 |
14-71493505-C-T | c.3372C>T | p.F1124= | Synonymous | 15/36 | - | 1 |
14-71493506-C-T | c.3373C>T | p.P1125S | Missense | 15/36 | - | 1 |
14-71493511-A-G | c.3378A>G | p.I1126M | Missense | 15/36 | - | 2 |
14-71493520-C-T | c.3387C>T | p.F1129= | Synonymous | 15/36 | - | 4 |
14-71493521-A-T | c.3388A>T | p.I1130F | Missense | 15/36 | - | 3 |
14-71493525-G-T | c.3392G>T | p.G1131V | Missense | 15/36 | - | 1 |
14-71493527-C-G | c.3394C>G | p.L1132V | Missense | 15/36 | - | 1 |
14-71493529-C-A | c.3396C>A | p.L1132= | Synonymous | 15/36 | - | 1 |
14-71493529-C-G | c.3396C>G | p.L1132= | Synonymous | 15/36 | - | 1 |
14-71493529-C-T | c.3396C>T | p.L1132= | Synonymous | 15/36 | - | 1 |
14-71493536-C-T | c.3403C>T | p.Q1135* | Nonsense | 15/36 | - | 3 |
14-71493540-T-C | c.3407T>C | p.V1136A | Missense | 15/36 | - | 1 |
14-71493560-C-T | c.3427C>T | p.L1143F | Missense | 15/36 | - | 1 |
14-71493571-A-G | c.3438A>G | p.Q1146= | Synonymous | 15/36 | - | 1 |
14-71493576-A-G | c.3443A>G | p.D1148G | Missense | 15/36 | - | 1 |
14-71493584-AT-A | c.3456del | p.F1152Lfs*23 | Frameshift | 15/36 | - | 1 |
14-71493593-G-T | c.3460G>T | p.G1154C | Missense | 15/36 | - | 1 |
14-71493594-G-C | c.3461G>C | p.G1154A | Missense | 15/36 | - | 1 |
14-71493659-A-G | c.3466+60A>G | - | IntronicSNV | - | 15/35 | 3 |
14-71495288-C-T | c.3467-129C>T | - | IntronicSNV | - | 15/35 | 2 |
14-71495419-A-G | c.3469A>G | p.T1157A | Missense | 16/36 | - | 1 |
14-71495426-G-C | c.3476G>C | p.S1159T | Missense | 16/36 | - | 1 |
14-71495430-G-C | c.3480G>C | p.L1160= | Synonymous | 16/36 | - | 1 |
14-71495432-T-A | c.3482T>A | p.L1161H | Missense | 16/36 | - | 2 |
14-71495433-T-A | c.3483T>A | p.L1161= | Synonymous | 16/36 | - | 1 |
14-71495433-T-C | c.3483T>C | p.L1161= | Synonymous | 16/36 | - | 1 |
14-71495433-T-G | c.3483T>G | p.L1161= | Synonymous | 16/36 | - | 1 |
14-71495434-G-C | c.3484G>C | p.A1162P | Missense | 16/36 | - | 1 |
14-71495437-G-A | c.3487G>A | p.A1163T | Missense | 16/36 | - | 1 |
14-71495441-T-G | c.3491T>G | p.L1164R | Missense | 16/36 | - | 1 |
14-71495450-T-G | c.3500T>G | p.F1167C | Missense | 16/36 | - | 1 |
14-71495452-A-C | c.3502A>C | p.I1168L | Missense | 16/36 | - | 6 |
14-71495464-G-T | c.3514G>T | p.V1172F | Missense | 16/36 | - | 1 |
14-71495467-G-C | c.3517G>C | p.A1173P | Missense | 16/36 | - | 1 |
14-71495469-A-C | c.3519A>C | p.A1173= | Synonymous | 16/36 | - | 1 |
14-71495469-A-G | c.3519A>G | p.A1173= | Synonymous | 16/36 | - | 1 |
14-71495469-A-T | c.3519A>T | p.A1173= | Synonymous | 16/36 | - | 1 |
14-71495485-G-A | c.3535G>A | p.G1179R | Missense | 16/36 | - | 2 |
14-71495485-G-C | c.3535G>C | p.G1179R | Missense | 16/36 | - | 2 |
14-71495487-A-AT | c.3539dup | p.L1180Ffs*39 | Frameshift | 16/36 | - | 1 |
14-71495493-T-G | c.3543T>G | p.C1181W | Missense | 16/36 | - | 1 |
14-71498656-C-T | c.3559-1490C>T | - | IntronicSNV | - | 16/35 | 2 |
14-71500146-G-T | c.3559G>T | p.D1187Y | Missense | 17/36 | - | 1 |
14-71500147-A-T | c.3560A>T | p.D1187V | Missense | 17/36 | - | 1 |
14-71500149-TC-AA | c.3562_3563delinsAA | p.S1188N | Missense | 17/36 | - | 1 |
14-71500150-C-G | c.3563C>G | p.S1188C | Missense | 17/36 | - | 1 |
14-71500150-C-T | c.3563C>T | p.S1188F | Missense | 17/36 | - | 1 |
14-71500153-G-T | c.3566G>T | p.W1189L | Missense | 17/36 | - | 5 |
14-71500156-A-AT | c.3570dup | p.G1191Wfs*28 | Frameshift | 17/36 | - | 1 |
14-71500159-G-A | c.3572G>A | p.G1191D | Missense | 17/36 | - | 1 |
14-71500182-T-G | c.3595T>G | p.S1199A | Missense | 17/36 | - | 1 |
14-71500183-C-A | c.3596C>A | p.S1199Y | Missense | 17/36 | - | 3 |
14-71500184-C-T | c.3597C>T | p.S1199= | Synonymous | 17/36 | - | 1 |
14-71500186-T-G | c.3599T>G | p.I1200S | Missense | 17/36 | - | 1 |
14-71500187-T-A | c.3600T>A | p.I1200= | Synonymous | 17/36 | - | 2 |
14-71500187-T-C | c.3600T>C | p.I1200= | Synonymous | 17/36 | - | 2 |
14-71500188-T-C | c.3601T>C | p.F1201L | Missense | 17/36 | - | 4 |
14-71500190-T-A | c.3603T>A | p.F1201L | Missense | 17/36 | - | 2 |
14-71500190-T-G | c.3603T>G | p.F1201L | Missense | 17/36 | - | 2 |
14-71500185-A-AT | c.3604dup | p.C1202Lfs*17 | Frameshift | 17/36 | - | 1 |
14-71500185-AT-A | c.3604del | p.C1202Vfs*4 | Frameshift | 17/36 | - | 2 |
14-71500202-A-C | c.3615A>C | p.L1205F | Missense | 17/36 | - | 1 |
14-71500206-G-A | c.3619G>A | p.A1207T | Missense | 17/36 | - | 1 |
14-71500206-G-C | c.3619G>C | p.A1207P | Missense | 17/36 | - | 1 |
14-71500217-C-T | c.3630C>T | p.Y1210= | Synonymous | 17/36 | - | 2 |
14-71500228-G-A | c.3641G>A | p.R1214Q | Missense | 17/36 | - | 1 |
14-71500230-C-T | c.3643C>T | p.Q1215* | Nonsense | 17/36 | - | 2 |
14-71500233-A-T | c.3646A>T | p.S1216C | Missense | 17/36 | - | 1 |
14-71500239-G-A | c.3652G>A | p.D1218N | Missense | 17/36 | - | 1 |
14-71500242-C-T | c.3655C>T | p.P1219S | Missense | 17/36 | - | 1 |
14-71500246-C-G | c.3659C>G | p.S1220C | Missense | 17/36 | - | 1 |
14-71500246-C-T | c.3659C>T | p.S1220F | Missense | 17/36 | - | 3 |
14-71500251-CT-AG | c.3664_3665inv | p.L1222S | Missense | 17/36 | - | 1 |
14-71500351-C-G | c.3668+96C>G | - | IntronicSNV | - | 17/35 | 3 |
14-71500375-A-G | c.3668+120A>G | - | IntronicSNV | - | 17/35 | 1 |
14-71500428-A-G | c.3668+173A>G | - | IntronicSNV | - | 17/35 | 1 |
14-71500579-C-A | c.3669-69C>A | - | IntronicSNV | - | 17/35 | 2 |
14-71500626-G-T | c.3669-22G>T | - | IntronicSNV | - | 17/35 | 1 |
14-71500648-C-A | c.3669C>A | p.F1223L | Missense | 18/36 | - | 2 |
14-71500656-T-C | c.3677T>C | p.V1226A | Missense | 18/36 | - | 1 |
14-71500658-C-T | c.3679C>T | p.Q1227* | Nonsense | 18/36 | - | 1 |
14-71500666-G-C | c.3687G>C | p.K1229N | Missense | 18/36 | - | 1 |
14-71500666-G-T | c.3687G>T | p.K1229N | Missense | 18/36 | - | 1 |
14-71500674-C-A | c.3695C>A | p.P1232Q | Missense | 18/36 | - | 2 |
14-71500679-A-G | c.3700A>G | p.T1234A | Missense | 18/36 | - | 1 |
14-71500680-C-T | c.3701C>T | p.T1234M | Missense | 18/36 | - | 4 |
14-71500682-G-T | c.3703G>T | p.E1235* | Nonsense | 18/36 | - | 1 |
14-71500689-A-G | c.3710A>G | p.K1237R | Missense | 18/36 | - | 1 |
14-71500694-C-T | c.3715C>T | p.P1239S | Missense | 18/36 | - | 2 |
14-71500695-C-T | c.3716C>T | p.P1239L | Missense | 18/36 | - | 2 |
14-71500696-A-C | c.3717A>C | p.P1239= | Synonymous | 18/36 | - | 1 |
14-71500696-A-G | c.3717A>G | p.P1239= | Synonymous | 18/36 | - | 1 |
14-71500696-A-T | c.3717A>T | p.P1239= | Synonymous | 18/36 | - | 1 |
14-71500706-C-T | c.3727C>T | p.L1243= | Synonymous | 18/36 | - | 1 |
14-71500710-C-A | c.3731C>A | p.S1244Y | Missense | 18/36 | - | 1 |
14-71500712-G-A | c.3733G>A | p.E1245K | Missense | 18/36 | - | 4 |
14-71500715-GTA-ATG | c.3736_3738delinsATG | p.V1246M | Missense | 18/36 | - | 1 |
14-71500721-G-T | c.3742G>T | p.D1248Y | Missense | 18/36 | - | 1 |
14-71500724-C-T | c.3745C>T | p.P1249S | Missense | 18/36 | - | 1 |
14-71500733-G-C | c.3754G>C | p.E1252Q | Missense | 18/36 | - | 1 |
14-71500740-T-G | c.3761T>G | p.L1254R | Missense | 18/36 | - | 1 |
14-71500749-C-G | c.3770C>G | p.S1257C | Missense | 18/36 | - | 2 |
14-71502732-T-C | c.3775-50T>C | - | IntronicSNV | - | 18/35 | 1 |
14-71502783-G-A | c.3776G>A | p.S1259N | Missense | 19/36 | - | 1 |
14-71502785-G-T | c.3778G>T | p.E1260* | Nonsense | 19/36 | - | 1 |
14-71502788-C-T | c.3781C>T | p.R1261* | Nonsense | 19/36 | - | 3 |
14-71502789-G-A | c.3782G>A | p.R1261Q | Missense | 19/36 | - | 2 |
14-71502789-G-C | c.3782G>C | p.R1261P | Missense | 19/36 | - | 2 |
14-71502800-G-T | c.3793G>T | p.D1265Y | Missense | 19/36 | - | 1 |
14-71502801-A-G | c.3794A>G | p.D1265G | Missense | 19/36 | - | 4 |
14-71502806-G-A | c.3799G>A | p.V1267I | Missense | 19/36 | - | 1 |
14-71502809-G-C | c.3802G>C | p.V1268L | Missense | 19/36 | - | 1 |
14-71502809-G-T | c.3802G>T | p.V1268L | Missense | 19/36 | - | 1 |
14-71502812-TG-AC | c.3805_3806delinsAC | p.C1269T | Missense | 19/36 | - | 1 |
14-71502824-G-A | c.3817G>A | p.G1273S | Missense | 19/36 | - | 1 |
14-71502824-G-T | c.3817G>T | p.G1273C | Missense | 19/36 | - | 4 |
14-71502827-G-A | c.3820G>A | p.V1274M | Missense | 19/36 | - | 3 |
14-71502830-C-T | c.3823C>T | p.L1275= | Synonymous | 19/36 | - | 1 |
14-71502832-G-A | c.3825G>A | p.L1275= | Synonymous | 19/36 | - | 1 |
14-71502832-G-C | c.3825G>C | p.L1275= | Synonymous | 19/36 | - | 1 |
14-71502832-G-T | c.3825G>T | p.L1275= | Synonymous | 19/36 | - | 2 |
14-71502857-GTC-ATG | c.3850_3852delinsATG | p.V1284M | Missense | 19/36 | - | 1 |
14-71502859-C-A | c.3852C>A | p.V1284= | Synonymous | 19/36 | - | 1 |
14-71502860-T-A | c.3853T>A | p.F1285I | Missense | 19/36 | - | 3 |
14-71502867-T-C | c.3860T>C | p.V1287A | Missense | 19/36 | - | 1 |
14-71502867-T-G | c.3860T>G | p.V1287G | Missense | 19/36 | - | 1 |
14-71502869-T-C | c.3862T>C | p.L1288= | Synonymous | 19/36 | - | 1 |
14-71502869-TT-AG | c.3862_3863delinsAG | p.L1288R | Missense | 19/36 | - | 1 |
14-71502871-G-A | c.3864G>A | p.L1288= | Synonymous | 19/36 | - | 2 |
14-71507601-G-A | c.3868-4249G>A | - | IntronicSNV | - | 19/35 | 1 |
14-71507601-G-C | c.3868-4249G>C | - | IntronicSNV | - | 19/35 | 1 |
14-71507601-G-T | c.3868-4249G>T | - | IntronicSNV | - | 19/35 | 1 |
14-71511856-C-G | c.3874C>G | p.L1292V | Missense | 20/36 | - | 1 |
14-71511858-C-T | c.3876C>T | p.L1292= | Synonymous | 20/36 | - | 1 |
14-71511879-G-C | c.3897G>C | p.L1299F | Missense | 20/36 | - | 1 |
14-71511879-G-T | c.3897G>T | p.L1299F | Missense | 20/36 | - | 1 |
14-71511884-G-T | c.3902G>T | p.G1301V | Missense | 20/36 | - | 1 |
14-71511885-C-A | c.3903C>A | p.G1301= | Synonymous | 20/36 | - | 1 |
14-71511885-C-G | c.3903C>G | p.G1301= | Synonymous | 20/36 | - | 1 |
14-71511885-C-T | c.3903C>T | p.G1301= | Synonymous | 20/36 | - | 2 |
14-71511895-T-G | c.3913T>G | p.F1305V | Missense | 20/36 | - | 2 |
14-71511905-A-G | c.3923A>G | p.H1308R | Missense | 20/36 | - | 1 |
14-71511910-G-T | c.3928G>T | p.V1310L | Missense | 20/36 | - | 1 |
14-71511913-C-G | c.3931C>G | p.L1311V | Missense | 20/36 | - | 1 |
14-71511913-C-T | c.3931C>T | p.L1311= | Synonymous | 20/36 | - | 1 |
14-71511919-C-T | c.3937C>T | p.Q1313* | Nonsense | 20/36 | - | 1 |
14-71511922-G-T | c.3940G>T | p.V1314F | Missense | 20/36 | - | 1 |
14-71511930-A-C | c.3948A>C | p.K1316N | Missense | 20/36 | - | 1 |
14-71511932-A-T | c.3950A>T | p.Q1317L | Missense | 20/36 | - | 1 |
14-71511957-T-A | c.3975T>A | p.H1325Q | Missense | 20/36 | - | 1 |
14-71511957-T-G | c.3975T>G | p.H1325Q | Missense | 20/36 | - | 1 |
14-71511958-C-G | c.3976C>G | p.P1326A | Missense | 20/36 | - | 1 |
14-71511961-C-A | c.3979C>A | p.L1327M | Missense | 20/36 | - | 1 |
14-71511961-C-T | c.3979C>T | p.L1327= | Synonymous | 20/36 | - | 1 |
14-71511963-G-A | c.3981G>A | p.L1327= | Synonymous | 20/36 | - | 1 |
14-71511963-G-C | c.3981G>C | p.L1327= | Synonymous | 20/36 | - | 1 |
14-71511963-G-T | c.3981G>T | p.L1327= | Synonymous | 20/36 | - | 1 |
14-71511971-C-T | c.3989C>T | p.T1330I | Missense | 20/36 | - | 1 |
14-71511976-G-A | c.3994G>A | p.E1332K | Missense | 20/36 | - | 3 |
14-71511997-C-T | c.4015C>T | p.R1339* | Nonsense | 20/36 | - | 8 |
14-71511998-G-A | c.4016G>A | p.R1339Q | Missense | 20/36 | - | 2 |
14-71511998-GAAGT-G | c.4018+4_4018+7del | - | SpliceDonorDeletion | - | 20/35 | 1 |
14-71512136-TAATG-T | c.4018+140_4018+143del | - | IntronicDeletion | - | 20/35 | 1 |
14-71513480-T-C | c.4019-201T>C | - | IntronicSNV | - | 20/35 | 2 |
14-71513683-GC-AT | c.4021_4022delinsAT | p.A1341I | Missense | 21/36 | - | 1 |
14-71513686-G-A | c.4024G>A | p.A1342T | Missense | 21/36 | - | 1 |
14-71513694-G-A | c.4032G>A | p.M1344I | Missense | 21/36 | - | 1 |
14-71513694-G-C | c.4032G>C | p.M1344I | Missense | 21/36 | - | 1 |
14-71513694-G-T | c.4032G>T | p.M1344I | Missense | 21/36 | - | 1 |
14-71513701-T-C | c.4039T>C | p.F1347L | Missense | 21/36 | - | 1 |
14-71513704-G-C | c.4042G>C | p.E1348Q | Missense | 21/36 | - | 1 |
14-71513717-T-C | c.4055T>C | p.V1352A | Missense | 21/36 | - | 1 |
14-71513720-G-A | c.4058G>A | p.W1353* | Nonsense | 21/36 | - | 2 |
14-71513721-G-A | c.4059G>A | p.W1353* | Nonsense | 21/36 | - | 2 |
14-71513725-C-A | c.4063C>A | p.L1355I | Missense | 21/36 | - | 1 |
14-71513725-C-T | c.4063C>T | p.L1355F | Missense | 21/36 | - | 1 |
14-71513731-G-A | c.4069G>A | p.V1357M | Missense | 21/36 | - | 1 |
14-71513733-G-A | c.4071G>A | p.V1357= | Synonymous | 21/36 | - | 1 |
14-71513733-G-C | c.4071G>C | p.V1357= | Synonymous | 21/36 | - | 1 |
14-71513733-G-T | c.4071G>T | p.V1357= | Synonymous | 21/36 | - | 1 |
14-71513735-A-G | c.4073A>G | p.E1358G | Missense | 21/36 | - | 1 |
14-71513739-G-C | c.4077G>C | p.K1359N | Missense | 21/36 | - | 1 |
14-71513739-G-T | c.4077G>T | p.K1359N | Missense | 21/36 | - | 2 |
14-71513746-A-C | c.4084A>C | p.I1362L | Missense | 21/36 | - | 1 |
14-71513746-A-G | c.4084A>G | p.I1362V | Missense | 21/36 | - | 1 |
14-71513752-C-G | c.4090C>G | p.P1364A | Missense | 21/36 | - | 2 |
14-71513757-G-T | c.4095G>T | p.L1365F | Missense | 21/36 | - | 1 |
14-71513761-G-C | c.4099G>C | p.V1367L | Missense | 21/36 | - | 1 |
14-71513765-T-C | c.4103T>C | p.L1368P | Missense | 21/36 | - | 1 |
14-71513768-A-G | c.4106A>G | p.N1369S | Missense | 21/36 | - | 3 |
14-71513786-C-T | c.4124C>T | p.A1375V | Missense | 21/36 | - | 1 |
14-71513803-C-A | c.4141C>A | p.P1381T | Missense | 21/36 | - | 1 |
14-71513803-C-T | c.4141C>T | p.P1381S | Missense | 21/36 | - | 3 |
14-71513931-TG-T | c.4160+109del | - | IntronicDeletion | - | 21/35 | 3 |
14-71514525-T-A | c.4162T>A | p.L1388I | Missense | 22/36 | - | 1 |
14-71514548-T-A | c.4185T>A | p.V1395= | Synonymous | 22/36 | - | 1 |
14-71514548-T-C | c.4185T>C | p.V1395= | Synonymous | 22/36 | - | 1 |
14-71514548-T-G | c.4185T>G | p.V1395= | Synonymous | 22/36 | - | 1 |
14-71514550-C-A | c.4187C>A | p.A1396D | Missense | 22/36 | - | 8 |
14-71514554-T-A | c.4191T>A | p.G1397= | Synonymous | 22/36 | - | 2 |
14-71514554-T-C | c.4191T>C | p.G1397= | Synonymous | 22/36 | - | 3 |
14-71514554-T-G | c.4191T>G | p.G1397= | Synonymous | 22/36 | - | 2 |
14-71514559-A-C | c.4196A>C | p.K1399T | Missense | 22/36 | - | 1 |
14-71514563-G-A | c.4200G>A | p.L1400= | Synonymous | 22/36 | - | 1 |
14-71514568-G-A | c.4205G>A | p.R1402Q | Missense | 22/36 | - | 1 |
14-71514568-G-C | c.4205G>C | p.R1402P | Missense | 22/36 | - | 1 |
14-71514571-C-T | c.4208C>T | p.S1403F | Missense | 22/36 | - | 1 |
14-71514572-C-T | c.4209C>T | p.S1403= | Synonymous | 22/36 | - | 2 |
14-71514574-C-G | c.4211C>G | p.S1404C | Missense | 22/36 | - | 3 |
14-71514575-T-A | c.4212T>A | p.S1404= | Synonymous | 22/36 | - | 1 |
14-71514575-T-C | c.4212T>C | p.S1404= | Synonymous | 22/36 | - | 1 |
14-71514575-T-G | c.4212T>G | p.S1404= | Synonymous | 22/36 | - | 1 |
14-71514583-G-A | c.4220G>A | p.S1407N | Missense | 22/36 | - | 1 |
14-71514584-C-A | c.4221C>A | p.S1407R | Missense | 22/36 | - | 1 |
14-71514585-C-T | c.4222C>T | p.P1408S | Missense | 22/36 | - | 3 |
14-71514586-C-G | c.4223C>G | p.P1408R | Missense | 22/36 | - | 5 |
14-71514590-A-T | c.4227A>T | p.T1409= | Synonymous | 22/36 | - | 1 |
14-71514609-A-T | c.4246A>T | p.I1416F | Missense | 22/36 | - | 1 |
14-71514611-C-G | c.4248C>G | p.I1416M | Missense | 22/36 | - | 1 |
14-71514611-C-T | c.4248C>T | p.I1416= | Synonymous | 22/36 | - | 2 |
14-71514613-T-A | c.4250T>A | p.F1417Y | Missense | 22/36 | - | 1 |
14-71514616-C-T | c.4253C>T | p.T1418I | Missense | 22/36 | - | 1 |
14-71514621-C-A | c.4258C>A | p.L1420M | Missense | 22/36 | - | 1 |
14-71514621-C-T | c.4258C>T | p.L1420= | Synonymous | 22/36 | - | 1 |
14-71514623-G-A | c.4260G>A | p.L1420= | Synonymous | 22/36 | - | 1 |
14-71514623-G-C | c.4260G>C | p.L1420= | Synonymous | 22/36 | - | 1 |
14-71514623-G-T | c.4260G>T | p.L1420= | Synonymous | 22/36 | - | 1 |
14-71514624-T-C | c.4261T>C | p.F1421L | Missense | 22/36 | - | 1 |
14-71514632-A-T | c.4269A>T | p.K1423N | Missense | 22/36 | - | 1 |
14-71514640-A-G | c.4277A>G | p.Y1426C | Missense | 22/36 | - | 1 |
14-71514642-G-A | c.4279G>A | p.E1427K | Missense | 22/36 | - | 1 |
14-71514647-T-A | c.4284T>A | p.A1428= | Synonymous | 22/36 | - | 1 |
14-71514647-T-C | c.4284T>C | p.A1428= | Synonymous | 22/36 | - | 1 |
14-71514647-T-G | c.4284T>G | p.A1428= | Synonymous | 22/36 | - | 1 |
14-71514646-CT-C | c.4288del | p.S1430Qfs*72 | Frameshift | 22/36 | - | 1 |
14-71514655-A-C | c.4292A>C | p.E1431A | Missense | 22/36 | - | 3 |
14-71514656-G-C | c.4293G>C | p.E1431D | Missense | 22/36 | - | 1 |
14-71514656-G-T | c.4293G>T | p.E1431D | Missense | 22/36 | - | 1 |
14-71514662-G-T | c.4299G>T | p.M1433I | Missense | 22/36 | - | 1 |
14-71514664-T-C | c.4301T>C | p.L1434P | Missense | 22/36 | - | 1 |
14-71514665-G-GT | c.4304dup | p.L1435Ffs*19 | Frameshift | 22/36 | - | 2 |
14-71514668-G-C | c.4305G>C | p.L1435F | Missense | 22/36 | - | 1 |
14-71514669-G-T | c.4306G>T | p.D1436Y | Missense | 22/36 | - | 1 |
14-71514696-A-G | c.4333A>G | p.N1445D | Missense | 22/36 | - | 1 |
14-71517275-T-C | c.4339-94T>C | - | IntronicSNV | - | 22/35 | 1 |
14-71517390-T-A | c.4360T>A | p.L1454M | Missense | 23/36 | - | 1 |
14-71517389-A-ATTTTGGGAGCTTCTTTATAAG | c.4361_4362insTTGGGAGCTTCTTTATAAGTT | p.K1453_L1454insFWELLYK | InFrameInsertion | 23/36 | - | 1 |
14-71517391-T-G | c.4361T>G | p.L1454W | Missense | 23/36 | - | 2 |
14-71517402-T-C | c.4372T>C | p.Y1458H | Missense | 23/36 | - | 1 |
14-71517405-A-G | c.4375A>G | p.T1459A | Missense | 23/36 | - | 1 |
14-71517417-C-T | c.4387C>T | p.P1463S | Missense | 23/36 | - | 2 |
14-71517425-G-C | c.4395G>C | p.Q1465H | Missense | 23/36 | - | 1 |
14-71517428-C-A | c.4398C>A | p.I1466= | Synonymous | 23/36 | - | 1 |
14-71517429-A-T | c.4399A>T | p.T1467S | Missense | 23/36 | - | 1 |
14-71517431-A-C | c.4401A>C | p.T1467= | Synonymous | 23/36 | - | 2 |
14-71517431-A-G | c.4401A>G | p.T1467= | Synonymous | 23/36 | - | 3 |
14-71517431-A-T | c.4401A>T | p.T1467= | Synonymous | 23/36 | - | 3 |
14-71517433-G-T | c.4403G>T | p.W1468L | Missense | 23/36 | - | 3 |
14-71517447-C-T | c.4417C>T | p.H1473Y | Missense | 23/36 | - | 1 |
14-71517448-A-G | c.4418A>G | p.H1473R | Missense | 23/36 | - | 1 |
14-71517453-T-G | c.4423T>G | p.F1475V | Missense | 23/36 | - | 1 |
14-71517455-T-C | c.4425T>C | p.F1475= | Synonymous | 23/36 | - | 1 |
14-71517462-C-T | c.4432C>T | p.P1478S | Missense | 23/36 | - | 1 |
14-71517469-C-T | c.4439C>T | p.A1480V | Missense | 23/36 | - | 1 |
14-71517473-G-A | c.4443G>A | p.V1481= | Synonymous | 23/36 | - | 2 |
14-71517473-G-C | c.4443G>C | p.V1481= | Synonymous | 23/36 | - | 2 |
14-71517473-G-T | c.4443G>T | p.V1481= | Synonymous | 23/36 | - | 2 |
14-71517856-G-A | c.4447+379G>A | - | IntronicSNV | - | 23/35 | 1 |
14-71518596-A-C | c.4448-4A>C | - | IntronicSNV | - | 23/35 | 1 |
14-71518596-A-G | c.4448-4A>G | - | IntronicSNV | - | 23/35 | 1 |
14-71518601-T-C | c.4449T>C | p.H1483= | Synonymous | 24/36 | - | 2 |
14-71518600-AT-A | c.4450del | p.S1484Qfs*18 | Frameshift | 24/36 | - | 1 |
14-71518606-C-T | c.4454C>T | p.A1485V | Missense | 24/36 | - | 5 |
14-71518633-C-T | c.4481C>T | p.S1494L | Missense | 24/36 | - | 2 |
14-71518636-C-T | c.4484C>T | p.A1495V | Missense | 24/36 | - | 1 |
14-71518644-T-A | c.4492T>A | p.S1498T | Missense | 24/36 | - | 1 |
14-71518646-T-C | c.4494T>C | p.S1498= | Synonymous | 24/36 | - | 2 |
14-71518651-C-A | c.4499C>A | p.P1500Q | Missense | 24/36 | - | 1 |
14-71518651-C-T | c.4499C>T | p.P1500L | Missense | 24/36 | - | 1 |
14-71518653-C-G | c.4501C>G | p.L1501V | Missense | 24/36 | - | 1 |
14-71518656-A-G | c.4504A>G | p.N1502D | Missense | 24/36 | - | 1 |
14-71518663-TT-AA | c.4511_4512inv | p.F1504* | Nonsense | 24/36 | - | 1 |
14-71518672-G-A | c.4520G>A | p.S1507N | Missense | 24/36 | - | 1 |
14-71518675-C-T | c.4523C>T | p.A1508V | Missense | 24/36 | - | 1 |
14-71518677-A-G | c.4525A>G | p.I1509V | Missense | 24/36 | - | 1 |
14-71518697-C-T | c.4545C>T | p.V1515= | Synonymous | 24/36 | - | 1 |
14-71518698-C-T | c.4546C>T | p.R1516* | Nonsense | 24/36 | - | 1 |
14-71518699-G-A | c.4547G>A | p.R1516Q | Missense | 24/36 | - | 1 |
14-71518700-A-G | c.4548A>G | p.R1516= | Synonymous | 24/36 | - | 1 |
14-71518712-C-T | c.4560C>T | p.F1520= | Synonymous | 24/36 | - | 3 |
14-71518722-G-T | c.4570G>T | p.D1524Y | Missense | 24/36 | - | 2 |
14-71518724-C-A | c.4572C>A | p.D1524E | Missense | 24/36 | - | 2 |
14-71518724-C-G | c.4572C>G | p.D1524E | Missense | 24/36 | - | 3 |
14-71518726-TA-T | c.4574del | p.Y1525Lfs*28 | Frameshift | 24/36 | - | 1 |
14-71519973-CT-C | c.4577+1253del | - | IntronicDeletion | - | 24/35 | 1 |
14-71519983-C-T | c.4577+1254C>T | - | IntronicSNV | - | 24/35 | 1 |
14-71520038-G-A | c.4577+1309G>A | - | IntronicSNV | - | 24/35 | 1 |
14-71522222-CA-C | c.4579del | p.T1527Qfs*26 | Frameshift | 25/36 | - | 1 |
14-71522228-CGA-TGG | c.4585_4587delinsTGG | p.R1529W | Missense | 25/36 | - | 1 |
14-71522240-T-G | c.4597T>G | p.S1533A | Missense | 25/36 | - | 1 |
14-71522241-C-G | c.4598C>G | p.S1533* | Nonsense | 25/36 | - | 2 |
14-71522261-C-A | c.4618C>A | p.Q1540K | Missense | 25/36 | - | 1 |
14-71522264-C-T | c.4621C>T | p.L1541F | Missense | 25/36 | - | 1 |
14-71522270-A-T | c.4627A>T | p.R1543* | Nonsense | 25/36 | - | 1 |
14-71522276-C-T | c.4633C>T | p.P1545S | Missense | 25/36 | - | 6 |
14-71522344-A-G | c.4636+65A>G | - | IntronicSNV | - | 25/35 | 4 |
14-71522800-TTGGG-T | c.4636+521_4636+524del | - | IntronicDeletion | - | 25/35 | 1 |
14-71524226-G-A | c.4637G>A | p.G1546E | Missense | 26/36 | - | 1 |
14-71524226-GATC-G | c.4639_4641del | p.S1547del | InFrameDeletion | 26/36 | - | 1 |
14-71524231-G-T | c.4642G>T | p.D1548Y | Missense | 26/36 | - | 1 |
14-71524245-G-C | c.4656G>C | p.L1552= | Synonymous | 26/36 | - | 1 |
14-71524249-T-C | c.4660T>C | p.S1554P | Missense | 26/36 | - | 1 |
14-71524250-C-T | c.4661C>T | p.S1554F | Missense | 26/36 | - | 2 |
14-71524258-T-C | c.4669T>C | p.Y1557H | Missense | 26/36 | - | 1 |
14-71524263-G-C | c.4674G>C | p.E1558D | Missense | 26/36 | - | 1 |
14-71524263-G-T | c.4674G>T | p.E1558D | Missense | 26/36 | - | 1 |
14-71524278-C-A | c.4689C>A | p.S1563= | Synonymous | 26/36 | - | 1 |
14-71524289-G-A | c.4700G>A | p.S1567N | Missense | 26/36 | - | 1 |
14-71524291-C-A | c.4702C>A | p.L1568I | Missense | 26/36 | - | 1 |
14-71524292-T-C | c.4703T>C | p.L1568P | Missense | 26/36 | - | 2 |
14-71524293-C-T | c.4704C>T | p.L1568= | Synonymous | 26/36 | - | 1 |
14-71524297-G-T | c.4708G>T | p.G1570C | Missense | 26/36 | - | 2 |
14-71524315-C-A | c.4726C>A | p.R1576= | Synonymous | 26/36 | - | 1 |
14-71524317-G-A | c.4728G>A | p.R1576= | Synonymous | 26/36 | - | 1 |
14-71524317-G-C | c.4728G>C | p.R1576= | Synonymous | 26/36 | - | 1 |
14-71524317-G-T | c.4728G>T | p.R1576= | Synonymous | 26/36 | - | 2 |
14-71524334-C-T | c.4745C>T | p.T1582I | Missense | 26/36 | - | 2 |
14-71524335-A-C | c.4746A>C | p.T1582= | Synonymous | 26/36 | - | 1 |
14-71524335-A-G | c.4746A>G | p.T1582= | Synonymous | 26/36 | - | 1 |
14-71524335-A-T | c.4746A>T | p.T1582= | Synonymous | 26/36 | - | 1 |
14-71524340-A-G | c.4751A>G | p.D1584G | Missense | 26/36 | - | 1 |
14-71524341-C-G | c.4752C>G | p.D1584E | Missense | 26/36 | - | 1 |
14-71524343-G-A | c.4754G>A | p.C1585Y | Missense | 26/36 | - | 1 |
14-71524344-T-C | c.4755T>C | p.C1585= | Synonymous | 26/36 | - | 1 |
14-71524347-C-T | c.4758C>T | p.F1586= | Synonymous | 26/36 | - | 2 |
14-71524350-C-G | c.4761C>G | p.I1587M | Missense | 26/36 | - | 1 |
14-71524350-C-T | c.4761C>T | p.I1587= | Synonymous | 26/36 | - | 3 |
14-71524355-C-T | c.4766C>T | p.A1589V | Missense | 26/36 | - | 1 |
14-71524358-C-T | c.4769C>T | p.S1590F | Missense | 26/36 | - | 2 |
14-71524364-A-G | c.4775A>G | p.Y1592C | Missense | 26/36 | - | 1 |
14-71524365-T-A | c.4776T>A | p.Y1592* | Nonsense | 26/36 | - | 1 |
14-71524368-C-A | c.4779C>A | p.L1593= | Synonymous | 26/36 | - | 2 |
14-71524376-T-G | c.4787T>G | p.L1596* | Nonsense | 26/36 | - | 1 |
14-71524388-T-C | c.4799T>C | p.I1600T | Missense | 26/36 | - | 2 |
14-71524390-G-C | c.4801G>C | p.E1601Q | Missense | 26/36 | - | 2 |
14-71524393-A-G | c.4804A>G | p.I1602V | Missense | 26/36 | - | 1 |
14-71524403-G-C | c.4814G>C | p.G1605A | Missense | 26/36 | - | 5 |
14-71524405-C-G | c.4816C>G | p.L1606V | Missense | 26/36 | - | 3 |
14-71524420-C-A | c.4831C>A | p.L1611M | Missense | 26/36 | - | 1 |
14-71524423-C-T | c.4834C>T | p.R1612W | Missense | 26/36 | - | 3 |
14-71524426-G-A | c.4837G>A | p.G1613R | Missense | 26/36 | - | 3 |
14-71524426-G-C | c.4837G>C | p.G1613R | Missense | 26/36 | - | 1 |
14-71524432-G-A | c.4843G>A | p.E1615K | Missense | 26/36 | - | 2 |
14-71524435-T-C | c.4846T>C | p.F1616L | Missense | 26/36 | - | 2 |
14-71524437-C-A | c.4848C>A | p.F1616L | Missense | 26/36 | - | 2 |
14-71524437-C-G | c.4848C>G | p.F1616L | Missense | 26/36 | - | 2 |
14-71524438-AGA-CAT | c.4849_4851delinsCAT | p.R1617H | Missense | 26/36 | - | 1 |
14-71524439-G-A | c.4850G>A | p.R1617K | Missense | 26/36 | - | 1 |
14-71524441-G-T | c.4852G>T | p.G1618C | Missense | 26/36 | - | 1 |
14-71524529-A-G | c.4852+88A>G | - | IntronicSNV | - | 26/35 | 2 |
14-71540242-G-T | c.4853-20G>T | - | IntronicSNV | - | 26/35 | 1 |
14-71540262-G-A | c.4853G>A | p.G1618D | Missense | 27/36 | - | 2 |
14-71540271-G-A | c.4862G>A | p.C1621Y | Missense | 27/36 | - | 1 |
14-71540275-A-C | c.4866A>C | p.Q1622H | Missense | 27/36 | - | 2 |
14-71540280-G-T | c.4871G>T | p.R1624L | Missense | 27/36 | - | 2 |
14-71540282-G-A | c.4873G>A | p.E1625K | Missense | 27/36 | - | 2 |
14-71540288-G-A | c.4879G>A | p.E1627K | Missense | 27/36 | - | 2 |
14-71540290-G-A | c.4881G>A | p.E1627= | Synonymous | 27/36 | - | 1 |
14-71540290-G-C | c.4881G>C | p.E1627D | Missense | 27/36 | - | 1 |
14-71540290-G-T | c.4881G>T | p.E1627D | Missense | 27/36 | - | 3 |
14-71540292-C-A | c.4883C>A | p.A1628D | Missense | 27/36 | - | 1 |
14-71540300-G-A | c.4891G>A | p.E1631K | Missense | 27/36 | - | 4 |
14-71540300-G-T | c.4891G>T | p.E1631* | Nonsense | 27/36 | - | 1 |
14-71540303-G-A | c.4894G>A | p.G1632S | Missense | 27/36 | - | 1 |
14-71540306-G-A | c.4897G>A | p.V1633I | Missense | 27/36 | - | 1 |
14-71540316-GA-G | c.4907del | p.D1636Vfs*27 | Frameshift | 27/36 | - | 1 |
14-71540323-A-AT | c.4918dup | p.C1640Lfs*4 | Frameshift | 27/36 | - | 1 |
14-71540327-T-TA | c.4918_4919insA | p.C1640* | Nonsense | 27/36 | - | 1 |
14-71540329-C-A | c.4920C>A | p.C1640* | Nonsense | 27/36 | - | 1 |
14-71540330-T-G | c.4921T>G | p.C1641G | Missense | 27/36 | - | 1 |
14-71540333-T-A | c.4924T>A | p.C1642S | Missense | 27/36 | - | 1 |
14-71540334-G-C | c.4925G>C | p.C1642S | Missense | 27/36 | - | 1 |
14-71540334-G-A | c.4925G>A | p.C1642Y | Missense | 27/36 | - | 1 |
14-71540341-T-C | c.4932T>C | p.P1644= | Synonymous | 27/36 | - | 3 |
14-71540346-A-G | c.4937A>G | p.H1646R | Missense | 27/36 | - | 1 |
14-71540373-C-T | c.4964C>T | p.A1655V | Missense | 27/36 | - | 1 |
14-71540387-C-T | c.4978C>T | p.R1660* | Nonsense | 27/36 | - | 7 |
14-71540393-C-T | c.4984C>T | p.L1662= | Synonymous | 27/36 | - | 1 |
14-71540405-G-A | c.4996G>A | p.V1666M | Missense | 27/36 | - | 1 |
14-71540426-C-T | c.5017C>T | p.L1673= | Synonymous | 27/36 | - | 3 |
14-71540428-G-A | c.5019G>A | p.L1673= | Synonymous | 27/36 | - | 2 |
14-71540428-G-C | c.5019G>C | p.L1673= | Synonymous | 27/36 | - | 2 |
14-71540428-G-T | c.5019G>T | p.L1673= | Synonymous | 27/36 | - | 2 |
14-71540436-A-G | c.5027A>G | p.Y1676C | Missense | 27/36 | - | 1 |
14-71540436-A-T | c.5027A>T | p.Y1676F | Missense | 27/36 | - | 1 |
14-71540460-C-A | c.5051C>A | p.A1684D | Missense | 27/36 | - | 1 |
14-71540471-C-T | c.5062C>T | p.Q1688* | Nonsense | 27/36 | - | 1 |
14-71540471-TC-T | c.5062del | p.Q1688Kfs*27 | Frameshift | 27/36 | - | 1 |
14-71540474-G-C | c.5065G>C | p.V1689L | Missense | 27/36 | - | 1 |
14-71540477-T-C | c.5068T>C | p.F1690L | Missense | 27/36 | - | 1 |
14-71540479-T-A | c.5070T>A | p.F1690L | Missense | 27/36 | - | 1 |
14-71540479-T-G | c.5070T>G | p.F1690L | Missense | 27/36 | - | 1 |
14-71540486-C-T | c.5077C>T | p.R1693W | Missense | 27/36 | - | 2 |
14-71540488-G-T | c.5079G>T | p.R1693= | Synonymous | 27/36 | - | 1 |
14-71540494-A-C | c.5085A>C | p.V1695= | Synonymous | 27/36 | - | 1 |
14-71540494-A-G | c.5085A>G | p.V1695= | Synonymous | 27/36 | - | 1 |
14-71540494-A-T | c.5085A>T | p.V1695= | Synonymous | 27/36 | - | 1 |
14-71540496-T-G | c.5087T>G | p.L1696R | Missense | 27/36 | - | 1 |
14-71540497-C-A | c.5088C>A | p.L1696= | Synonymous | 27/36 | - | 1 |
14-71540497-C-G | c.5088C>G | p.L1696= | Synonymous | 27/36 | - | 2 |
14-71540497-C-T | c.5088C>T | p.L1696= | Synonymous | 27/36 | - | 1 |
14-71542877-T-C | c.5107-29T>C | - | IntronicSNV | - | 27/35 | 1 |
14-71542889-T-G | c.5107-17T>G | - | IntronicSNV | - | 27/35 | 1 |
14-71542908-T-A | c.5109T>A | p.G1703= | Synonymous | 28/36 | - | 1 |
14-71542908-T-C | c.5109T>C | p.G1703= | Synonymous | 28/36 | - | 1 |
14-71542908-T-G | c.5109T>G | p.G1703= | Synonymous | 28/36 | - | 1 |
14-71542912-A-G | c.5113A>G | p.I1705V | Missense | 28/36 | - | 1 |
14-71542925-C-T | c.5126C>T | p.T1709M | Missense | 28/36 | - | 1 |
14-71542926-G-C | c.5127G>C | p.T1709= | Synonymous | 28/36 | - | 2 |
14-71542931-C-T | c.5132C>T | p.S1711L | Missense | 28/36 | - | 2 |
14-71542940-T-C | c.5141T>C | p.L1714P | Missense | 28/36 | - | 2 |
14-71542944-G-A | c.5145G>A | p.E1715= | Synonymous | 28/36 | - | 3 |
14-71542945-G-T | c.5146G>T | p.E1716* | Nonsense | 28/36 | - | 2 |
14-71542954-AGCT-A | c.5155_5157del | p.A1719del | InFrameDeletion | 28/36 | - | 2 |
14-71542957-A-T | c.5158A>T | p.N1720Y | Missense | 28/36 | - | 1 |
14-71542963-A-G | c.5164A>G | p.T1722A | Missense | 28/36 | - | 1 |
14-71542970-A-C | c.5171A>C | p.Q1724P | Missense | 28/36 | - | 1 |
14-71542971-G-A | c.5172G>A | p.Q1724= | Synonymous | 28/36 | - | 1 |
14-71542981-C-T | c.5182C>T | p.R1728C | Missense | 28/36 | - | 6 |
14-71542982-G-A | c.5183G>A | p.R1728H | Missense | 28/36 | - | 1 |
14-71542983-T-A | c.5184T>A | p.R1728= | Synonymous | 28/36 | - | 1 |
14-71542983-T-C | c.5184T>C | p.R1728= | Synonymous | 28/36 | - | 1 |
14-71542983-T-G | c.5184T>G | p.R1728= | Synonymous | 28/36 | - | 1 |
14-71542991-C-T | c.5192C>T | p.A1731V | Missense | 28/36 | - | 2 |
14-71542996-C-T | c.5197C>T | p.R1733C | Missense | 28/36 | - | 3 |
14-71542997-G-A | c.5198G>A | p.R1733H | Missense | 28/36 | - | 2 |
14-71542997-G-C | c.5198G>C | p.R1733P | Missense | 28/36 | - | 1 |
14-71543000-A-G | c.5201A>G | p.N1734S | Missense | 28/36 | - | 1 |
14-71543007-C-T | c.5208C>T | p.V1736= | Synonymous | 28/36 | - | 3 |
14-71543008-G-A | c.5209G>A | p.D1737N | Missense | 28/36 | - | 3 |
14-71543009-A-G | c.5210A>G | p.D1737G | Missense | 28/36 | - | 1 |
14-71543011-G-A | c.5212G>A | p.V1738M | Missense | 28/36 | - | 8 |
14-71543016-C-T | c.5217C>T | p.D1739= | Synonymous | 28/36 | - | 2 |
14-71543017-C-T | c.5218C>T | p.P1740S | Missense | 28/36 | - | 1 |
14-71543018-C-T | c.5219C>T | p.P1740L | Missense | 28/36 | - | 2 |
14-71543019-G-A | c.5220G>A | p.P1740= | Synonymous | 28/36 | - | 2 |
14-71543019-G-C | c.5220G>C | p.P1740= | Synonymous | 28/36 | - | 2 |
14-71543019-G-T | c.5220G>T | p.P1740= | Synonymous | 28/36 | - | 1 |
14-71543021-C-T | c.5222C>T | p.T1741I | Missense | 28/36 | - | 1 |
14-71543026-A-G | c.5227A>G | p.N1743D | Missense | 28/36 | - | 1 |
14-71543030-C-T | c.5231C>T | p.P1744L | Missense | 28/36 | - | 2 |
14-71543031-A-G | c.5232A>G | p.P1744= | Synonymous | 28/36 | - | 1 |
14-71543038-G-A | c.5239G>A | p.D1747N | Missense | 28/36 | - | 1 |
14-71543040-T-C | c.5241T>C | p.D1747= | Synonymous | 28/36 | - | 1 |
14-71543042-A-G | c.5243A>G | p.E1748G | Missense | 28/36 | - | 1 |
14-71543052-C-A | c.5253C>A | p.D1751E | Missense | 28/36 | - | 3 |
14-71543052-C-G | c.5253C>G | p.D1751E | Missense | 28/36 | - | 1 |
14-71543058-A-C | c.5259A>C | p.R1753= | Synonymous | 28/36 | - | 1 |
14-71543066-G-T | c.5267G>T | p.G1756V | Missense | 28/36 | - | 1 |
14-71543071-T-C | c.5272T>C | p.S1758P | Missense | 28/36 | - | 1 |
14-71543074-AGG-CAT | c.5275_5277delinsCAT | p.R1759H | Missense | 28/36 | - | 1 |
14-71543075-G-A | c.5276G>A | p.R1759K | Missense | 28/36 | - | 1 |
14-71543074-A-C | c.5275A>C | p.R1759= | Synonymous | 28/36 | - | 1 |
14-71543076-G-A | c.5277G>A | p.R1759= | Synonymous | 28/36 | - | 1 |
14-71543082-T-C | c.5283T>C | p.S1761= | Synonymous | 28/36 | - | 2 |
14-71543083-T-C | c.5284T>C | p.F1762L | Missense | 28/36 | - | 1 |
14-71543085-C-A | c.5286C>A | p.F1762L | Missense | 28/36 | - | 1 |
14-71543085-C-G | c.5286C>G | p.F1762L | Missense | 28/36 | - | 1 |
14-71543086-T-G | c.5287T>G | p.C1763G | Missense | 28/36 | - | 1 |
14-71543088-T-C | c.5289T>C | p.C1763= | Synonymous | 28/36 | - | 1 |
14-71543094-T-A | c.5295T>A | p.I1765= | Synonymous | 28/36 | - | 1 |
14-71543097-C-T | c.5298C>T | p.Y1766= | Synonymous | 28/36 | - | 3 |
14-71543100-C-T | c.5301C>T | p.L1767= | Synonymous | 28/36 | - | 3 |
14-71543102-A-G | c.5303A>G | p.N1768S | Missense | 28/36 | - | 1 |
14-71543109-A-G | c.5310A>G | p.I1770M | Missense | 28/36 | - | 1 |
14-71543112-G-A | c.5313G>A | p.E1771= | Synonymous | 28/36 | - | 2 |
14-71543120-C-T | c.5321C>T | p.S1774F | Missense | 28/36 | - | 1 |
14-71543123-C-T | c.5324C>T | p.S1775F | Missense | 28/36 | - | 6 |
14-71543125-C-A | c.5326C>A | p.R1776= | Synonymous | 28/36 | - | 2 |
14-71543125-C-T | c.5326C>T | p.R1776* | Nonsense | 28/36 | - | 1 |
14-71543131-G-A | c.5332G>A | p.A1778T | Missense | 28/36 | - | 1 |
14-71543136-G-C | c.5337G>C | p.K1779N | Missense | 28/36 | - | 1 |
14-71543136-G-T | c.5337G>T | p.K1779N | Missense | 28/36 | - | 2 |
14-71548914-A-C | c.5337+5778A>C | - | IntronicSNV | - | 28/35 | 1 |
14-71555058-G-T | c.5349G>T | p.V1783= | Synonymous | 29/36 | - | 1 |
14-71555067-T-A | c.5358T>A | p.D1786E | Missense | 29/36 | - | 1 |
14-71555067-T-G | c.5358T>G | p.D1786E | Missense | 29/36 | - | 1 |
14-71555072-C-T | c.5363C>T | p.S1788F | Missense | 29/36 | - | 1 |
14-71555073-C-T | c.5364C>T | p.S1788= | Synonymous | 29/36 | - | 1 |
14-71555076-A-T | c.5367A>T | p.L1789= | Synonymous | 29/36 | - | 1 |
14-71555084-T-G | c.5375T>G | p.L1792R | Missense | 29/36 | - | 4 |
14-71555094-A-G | c.5385A>G | p.G1795= | Synonymous | 29/36 | - | 1 |
14-71555104-C-T | c.5395C>T | p.L1799= | Synonymous | 29/36 | - | 1 |
14-71555106-G-A | c.5397G>A | p.L1799= | Synonymous | 29/36 | - | 1 |
14-71555106-G-C | c.5397G>C | p.L1799= | Synonymous | 29/36 | - | 1 |
14-71555106-G-T | c.5397G>T | p.L1799= | Synonymous | 29/36 | - | 1 |
14-71555125-A-G | c.5416A>G | p.T1806A | Missense | 29/36 | - | 1 |
14-71555128-G-A | c.5419G>A | p.A1807T | Missense | 29/36 | - | 3 |
14-71555129-C-T | c.5420C>T | p.A1807V | Missense | 29/36 | - | 2 |
14-71555131-T-A | c.5422T>A | p.S1808T | Missense | 29/36 | - | 1 |
14-71555137-C-T | c.5428C>T | p.H1810Y | Missense | 29/36 | - | 3 |
14-71555146-A-T | c.5437A>T | p.S1813C | Missense | 29/36 | - | 3 |
14-71555147-G-A | c.5438G>A | p.S1813N | Missense | 29/36 | - | 1 |
14-71555821-G-A | c.5439-88G>A | - | IntronicSNV | - | 29/35 | 2 |
14-71555910-A-T | c.5440A>T | p.N1814Y | Missense | 30/36 | - | 2 |
14-71555916-G-C | c.5446G>C | p.E1816Q | Missense | 30/36 | - | 1 |
14-71555924-C-A | c.5454C>A | p.F1818L | Missense | 30/36 | - | 1 |
14-71555929-A-G | c.5459A>G | p.Y1820C | Missense | 30/36 | - | 3 |
14-71555932-G-C | c.5462G>C | p.G1821A | Missense | 30/36 | - | 1 |
14-71555941-C-T | c.5471C>T | p.A1824V | Missense | 30/36 | - | 3 |
14-71555944-T-C | c.5474T>C | p.L1825P | Missense | 30/36 | - | 1 |
14-71555946-T-C | c.5476T>C | p.F1826L | Missense | 30/36 | - | 1 |
14-71555948-T-A | c.5478T>A | p.F1826L | Missense | 30/36 | - | 1 |
14-71555948-T-G | c.5478T>G | p.F1826L | Missense | 30/36 | - | 1 |
14-71555950-A-AC | c.5480_5481insC | p.K1827Nfs*12 | Frameshift | 30/36 | - | 1 |
14-71555955-G-A | c.5485G>A | p.D1829N | Missense | 30/36 | - | 1 |
14-71555958-T-C | c.5488T>C | p.F1830L | Missense | 30/36 | - | 2 |
14-71555960-C-A | c.5490C>A | p.F1830L | Missense | 30/36 | - | 2 |
14-71555960-C-G | c.5490C>G | p.F1830L | Missense | 30/36 | - | 2 |
14-71555960-C-T | c.5490C>T | p.F1830= | Synonymous | 30/36 | - | 3 |
14-71555961-C-T | c.5491C>T | p.R1831C | Missense | 30/36 | - | 3 |
14-71555962-G-A | c.5492G>A | p.R1831H | Missense | 30/36 | - | 1 |
14-71555968-C-A | c.5498C>A | p.S1833Y | Missense | 30/36 | - | 3 |
14-71555974-T-A | c.5504T>A | p.I1835N | Missense | 30/36 | - | 1 |
14-71555976-C-T | c.5506C>T | p.R1836* | Nonsense | 30/36 | - | 8 |
14-71555977-G-A | c.5507G>A | p.R1836Q | Missense | 30/36 | - | 3 |
14-71555982-G-C | c.5512G>C | p.E1838Q | Missense | 30/36 | - | 1 |
14-71555990-C-A | c.5520C>A | p.I1840= | Synonymous | 30/36 | - | 1 |
14-71555990-C-T | c.5520C>T | p.I1840= | Synonymous | 30/36 | - | 1 |
14-71555992-T-G | c.5522T>G | p.F1841C | Missense | 30/36 | - | 1 |
14-71555995-C-T | c.5525C>T | p.A1842V | Missense | 30/36 | - | 1 |
14-71555997-G-A | c.5527G>A | p.D1843N | Missense | 30/36 | - | 1 |
14-71556009-C-A | c.5539C>A | p.L1847I | Missense | 30/36 | - | 1 |
14-71556012-A-G | c.5542A>G | p.R1848G | Missense | 30/36 | - | 1 |
14-71556013-G-A | c.5543G>A | p.R1848K | Missense | 30/36 | - | 4 |
14-71556018-G-A | c.5548G>A | p.V1850I | Missense | 30/36 | - | 2 |
14-71556022-T-A | c.5552T>A | p.V1851E | Missense | 30/36 | - | 1 |
14-71556035-C-T | c.5565C>T | p.I1855= | Synonymous | 30/36 | - | 1 |
14-71556057-C-T | c.5587C>T | p.Q1863* | Nonsense | 30/36 | - | 2 |
14-71556058-A-G | c.5588A>G | p.Q1863R | Missense | 30/36 | - | 3 |
14-71556213-G-T | c.5589+154G>T | - | IntronicSNV | - | 30/35 | 1 |
14-71556216-G-C | c.5589+157G>C | - | IntronicSNV | - | 30/35 | 1 |
14-71557321-A-G | c.5589+1262A>G | - | IntronicSNV | - | 30/35 | 1 |
14-71557707-C-T | c.5589+1648C>T | - | IntronicSNV | - | 30/35 | 1 |
14-71561649-A-T | c.5589+5590A>T | - | IntronicSNV | - | 30/35 | 1 |
14-71561648-TA-T | c.5589+5597del | - | IntronicDeletion | - | 30/35 | 1 |
14-71568683-T-A | c.5590-24T>A | - | IntronicSNV | - | 30/35 | 6 |
14-71568683-T-G | c.5590-24T>G | - | IntronicSNV | - | 30/35 | 6 |
14-71568710-C-A | c.5593C>A | p.H1865N | Missense | 31/36 | - | 1 |
14-71568710-C-T | c.5593C>T | p.H1865Y | Missense | 31/36 | - | 4 |
14-71568713-T-C | c.5596T>C | p.F1866L | Missense | 31/36 | - | 1 |
14-71568715-T-A | c.5598T>A | p.F1866L | Missense | 31/36 | - | 1 |
14-71568715-T-G | c.5598T>G | p.F1866L | Missense | 31/36 | - | 1 |
14-71568714-T-A | c.5597T>A | p.F1866Y | Missense | 31/36 | - | 1 |
14-71568725-G-T | c.5608G>T | p.D1870Y | Missense | 31/36 | - | 1 |
14-71568728-G-C | c.5611G>C | p.E1871Q | Missense | 31/36 | - | 1 |
14-71568734-G-A | c.5617G>A | p.D1873N | Missense | 31/36 | - | 1 |
14-71568737-G-C | c.5620G>C | p.D1874H | Missense | 31/36 | - | 1 |
14-71568740-CC-TT | c.5623_5624delinsTT | p.P1875F | Missense | 31/36 | - | 1 |
14-71568743-A-G | c.5626A>G | p.T1876A | Missense | 31/36 | - | 1 |
14-71568755-G-A | c.5638G>A | p.E1880K | Missense | 31/36 | - | 1 |
14-71568759-C-T | c.5642C>T | p.A1881V | Missense | 31/36 | - | 2 |
14-71568760-C-T | c.5643C>T | p.A1881= | Synonymous | 31/36 | - | 1 |
14-71568761-A-G | c.5644A>G | p.I1882V | Missense | 31/36 | - | 1 |
14-71568770-C-T | c.5653C>T | p.H1885Y | Missense | 31/36 | - | 2 |
14-71568773-G-A | c.5656G>A | p.E1886K | Missense | 31/36 | - | 2 |
14-71568773-G-C | c.5656G>C | p.E1886Q | Missense | 31/36 | - | 2 |
14-71568774-A-T | c.5657A>T | p.E1886V | Missense | 31/36 | - | 3 |
14-71568775-G-A | c.5658G>A | p.E1886= | Synonymous | 31/36 | - | 1 |
14-71568776-A-G | c.5659A>G | p.K1887E | Missense | 31/36 | - | 1 |
14-71568781-C-A | c.5664C>A | p.N1888K | Missense | 31/36 | - | 4 |
14-71568781-C-G | c.5664C>G | p.N1888K | Missense | 31/36 | - | 2 |
14-71568785-G-T | c.5668G>T | p.V1890L | Missense | 31/36 | - | 1 |
14-71568791-G-T | c.5674G>T | p.A1892S | Missense | 31/36 | - | 1 |
14-71568792-C-T | c.5675C>T | p.A1892V | Missense | 31/36 | - | 3 |
14-71568797-G-A | c.5680G>A | p.E1894K | Missense | 31/36 | - | 1 |
14-71568799-A-AT | c.5682_5683insT | p.G1895Wfs*25 | Frameshift | 31/36 | - | 1 |
14-71568800-G-A | c.5683G>A | p.G1895R | Missense | 31/36 | - | 1 |
14-71568800-G-C | c.5683G>C | p.G1895R | Missense | 31/36 | - | 1 |
14-71568800-G-GT | c.5683_5684insT | p.G1895Vfs*25 | Frameshift | 31/36 | - | 1 |
14-71568802-G-A | c.5685G>A | p.G1895= | Synonymous | 31/36 | - | 1 |
14-71568802-G-C | c.5685G>C | p.G1895= | Synonymous | 31/36 | - | 1 |
14-71568802-G-T | c.5685G>T | p.G1895= | Synonymous | 31/36 | - | 1 |
14-71568804-A-G | c.5687A>G | p.D1896G | Missense | 31/36 | - | 1 |
14-71568810-C-T | c.5693C>T | p.A1898V | Missense | 31/36 | - | 2 |
14-71568813-G-A | c.5696G>A | p.W1899* | Nonsense | 31/36 | - | 1 |
14-71568814-G-A | c.5697G>A | p.W1899* | Nonsense | 31/36 | - | 1 |
14-71568815-C-T | c.5698C>T | p.R1900W | Missense | 31/36 | - | 2 |
14-71568816-G-A | c.5699G>A | p.R1900Q | Missense | 31/36 | - | 1 |
14-71568817-G-A | c.5700G>A | p.R1900= | Synonymous | 31/36 | - | 1 |
14-71568819-G-A | c.5702G>A | p.S1901N | Missense | 31/36 | - | 3 |
14-71568824-G-A | c.5707G>A | p.V1903I | Missense | 31/36 | - | 2 |
14-71568837-C-G | c.5720C>G | p.S1907C | Missense | 31/36 | - | 1 |
14-71568842-T-C | c.5725T>C | p.S1909P | Missense | 31/36 | - | 1 |
14-71568843-C-T | c.5726C>T | p.S1909F | Missense | 31/36 | - | 1 |
14-71568848-C-T | c.5731C>T | p.L1911F | Missense | 31/36 | - | 2 |
14-71568849-T-C | c.5732T>C | p.L1911P | Missense | 31/36 | - | 1 |
14-71568851-G-A | c.5734G>A | p.A1912T | Missense | 31/36 | - | 1 |
14-71568857-C-A | c.5740C>A | p.R1914= | Synonymous | 31/36 | - | 1 |
14-71568859-G-A | c.5742G>A | p.R1914= | Synonymous | 31/36 | - | 1 |
14-71568859-G-C | c.5742G>C | p.R1914= | Synonymous | 31/36 | - | 1 |
14-71568859-G-T | c.5742G>T | p.R1914= | Synonymous | 31/36 | - | 1 |
14-71568872-G-A | c.5755G>A | p.D1919N | Missense | 31/36 | - | 1 |
14-71568873-A-G | c.5756A>G | p.D1919G | Missense | 31/36 | - | 1 |
14-71568883-T-C | c.5766T>C | p.N1922= | Synonymous | 31/36 | - | 1 |
14-71568884-G-C | c.5767G>C | p.E1923Q | Missense | 31/36 | - | 1 |
14-71568893-A-G | c.5776A>G | p.I1926V | Missense | 31/36 | - | 1 |
14-71568899-A-G | c.5782A>G | p.M1928V | Missense | 31/36 | - | 1 |
14-71568904-C-A | c.5787C>A | p.L1929= | Synonymous | 31/36 | - | 1 |
14-71568905-A-G | c.5788A>G | p.N1930D | Missense | 31/36 | - | 2 |
14-71568911-C-T | c.5794C>T | p.R1932C | Missense | 31/36 | - | 3 |
14-71568912-G-A | c.5795G>A | p.R1932H | Missense | 31/36 | - | 1 |
14-71568927-G-A | c.5810G>A | p.R1937K | Missense | 31/36 | - | 1 |
14-71568927-G-T | c.5810G>T | p.R1937M | Missense | 31/36 | - | 1 |
14-71568931-C-G | c.5814C>G | p.V1938= | Synonymous | 31/36 | - | 1 |
14-71568944-G-A | c.5820+7G>A | - | IntronicSNV | - | 31/35 | 1 |
14-71568997-A-T | c.5820+60A>T | - | IntronicSNV | - | 31/35 | 2 |
14-71570122-A-G | c.5831A>G | p.E1944G | Missense | 32/36 | - | 1 |
14-71570130-C-T | c.5839C>T | p.R1947* | Nonsense | 32/36 | - | 1 |
14-71570133-G-C | c.5842G>C | p.G1948R | Missense | 32/36 | - | 1 |
14-71570136-C-A | c.5845C>A | p.L1949I | Missense | 32/36 | - | 1 |
14-71570136-C-T | c.5845C>T | p.L1949F | Missense | 32/36 | - | 1 |
14-71570151-C-T | c.5860C>T | p.Q1954* | Nonsense | 32/36 | - | 1 |
14-71570153-G-A | c.5862G>A | p.Q1954= | Synonymous | 32/36 | - | 1 |
14-71570155-A-T | c.5864A>T | p.Q1955L | Missense | 32/36 | - | 2 |
14-71570159-G-C | c.5868G>C | p.E1956D | Missense | 32/36 | - | 1 |
14-71570159-G-T | c.5868G>T | p.E1956D | Missense | 32/36 | - | 1 |
14-71570172-C-T | c.5881C>T | p.R1961C | Missense | 32/36 | - | 2 |
14-71570173-G-C | c.5882G>C | p.R1961P | Missense | 32/36 | - | 1 |
14-71570176-A-G | c.5885A>G | p.N1962S | Missense | 32/36 | - | 2 |
14-71570179-G-A | c.5888G>A | p.R1963H | Missense | 32/36 | - | 3 |
14-71570181-A-G | c.5890A>G | p.N1964D | Missense | 32/36 | - | 1 |
14-71570185-C-A | c.5894C>A | p.P1965Q | Missense | 32/36 | - | 1 |
14-71570188-A-G | c.5897A>G | p.E1966G | Missense | 32/36 | - | 1 |
14-71570194-G-A | c.5903G>A | p.G1968D | Missense | 32/36 | - | 1 |
14-71570209-C-T | c.5918C>T | p.A1973V | Missense | 32/36 | - | 1 |
14-71570222-G-T | c.5931G>T | p.L1977= | Synonymous | 32/36 | - | 1 |
14-71570236-A-G | c.5945A>G | p.N1982S | Missense | 32/36 | - | 1 |
14-71570243-T-C | c.5952T>C | p.S1984= | Synonymous | 32/36 | - | 1 |
14-71570248-A-G | c.5957A>G | p.D1986G | Missense | 32/36 | - | 1 |
14-71570252-A-C | c.5961A>C | p.Q1987H | Missense | 32/36 | - | 1 |
14-71570252-A-G | c.5961A>G | p.Q1987= | Synonymous | 32/36 | - | 1 |
14-71570252-A-T | c.5961A>T | p.Q1987H | Missense | 32/36 | - | 1 |
14-71570253-C-T | c.5962C>T | p.P1988S | Missense | 32/36 | - | 4 |
14-71570257-T-G | c.5966T>G | p.I1989S | Missense | 32/36 | - | 1 |
14-71570259-G-C | c.5968G>C | p.G1990R | Missense | 32/36 | - | 1 |
14-71570259-GGC-TGG | c.5968_5970delinsTGG | p.G1990W | Missense | 32/36 | - | 1 |
14-71570259-G-T | c.5968G>T | p.G1990C | Missense | 32/36 | - | 1 |
14-71570260-G-A | c.5969G>A | p.G1990D | Missense | 32/36 | - | 2 |
14-71570264-C-A | c.5973C>A | p.Y1991* | Nonsense | 32/36 | - | 2 |
14-71570264-C-G | c.5973C>G | p.Y1991* | Nonsense | 32/36 | - | 2 |
14-71570268-A-G | c.5977A>G | p.I1993V | Missense | 32/36 | - | 1 |
14-71570269-T-A | c.5978T>A | p.I1993N | Missense | 32/36 | - | 2 |
14-71570279-A-C | c.5988A>C | p.S1996= | Synonymous | 32/36 | - | 1 |
14-71570279-A-G | c.5988A>G | p.S1996= | Synonymous | 32/36 | - | 1 |
14-71570279-A-T | c.5988A>T | p.S1996= | Synonymous | 32/36 | - | 1 |
14-71570281-C-A | c.5990C>A | p.P1997H | Missense | 32/36 | - | 1 |
14-71570284-T-A | c.5993T>A | p.L1998Q | Missense | 32/36 | - | 2 |
14-71570285-G-A | c.5994G>A | p.L1998= | Synonymous | 32/36 | - | 1 |
14-71570310-G-A | c.6019G>A | p.E2007K | Missense | 32/36 | - | 1 |
14-71570330-T-G | c.6039T>G | p.L2013= | Synonymous | 32/36 | - | 1 |
14-71570335-G-A | c.6044G>A | p.G2015D | Missense | 32/36 | - | 1 |
14-71570337-C-T | c.6046C>T | p.P2016S | Missense | 32/36 | - | 2 |
14-71570338-C-T | c.6047C>T | p.P2016L | Missense | 32/36 | - | 1 |
14-71570349-G-A | c.6058G>A | p.G2020R | Missense | 32/36 | - | 1 |
14-71570358-A-G | c.6067A>G | p.R2023G | Missense | 32/36 | - | 1 |
14-71570362-A-G | c.6071A>G | p.N2024S | Missense | 32/36 | - | 1 |
14-71570366-C-T | c.6075C>T | p.F2025= | Synonymous | 32/36 | - | 1 |
14-71570371-T-C | c.6080T>C | p.V2027A | Missense | 32/36 | - | 1 |
14-71570381-G-C | c.6090G>C | p.W2030C | Missense | 32/36 | - | 1 |
14-71570434-C-G | c.6095+48C>G | - | IntronicSNV | - | 32/35 | 1 |
14-71570552-T-C | c.6095+166T>C | - | IntronicSNV | - | 32/35 | 1 |
14-71570385-A-C | c.6094A>C | p.R2032= | Synonymous | 32/36 | - | 1 |
14-71571952-G-A | c.6096G>A | p.R2032= | Synonymous | 33/36 | - | 1 |
14-71571954-T-C | c.6098T>C | p.L2033P | Missense | 33/36 | - | 1 |
14-71571966-G-A | c.6110G>A | p.C2037Y | Missense | 33/36 | - | 1 |
14-71571968-G-A | c.6112G>A | p.G2038R | Missense | 33/36 | - | 1 |
14-71571970-A-T | c.6114A>T | p.G2038= | Synonymous | 33/36 | - | 1 |
14-71571986-G-T | c.6130G>T | p.G2044C | Missense | 33/36 | - | 1 |
14-71571989-G-T | c.6133G>T | p.G2045C | Missense | 33/36 | - | 1 |
14-71571997-T-C | c.6141T>C | p.I2047= | Synonymous | 33/36 | - | 1 |
14-71572005-C-A | c.6149C>A | p.S2050Y | Missense | 33/36 | - | 1 |
14-71572011-C-A | c.6155C>A | p.T2052N | Missense | 33/36 | - | 1 |
14-71572016-G-C | c.6160G>C | p.G2054R | Missense | 33/36 | - | 1 |
14-71572021-G-T | c.6165G>T | p.G2055= | Synonymous | 33/36 | - | 3 |
14-71572022-A-T | c.6166A>T | p.T2056S | Missense | 33/36 | - | 1 |
14-71572023-C-G | c.6167C>G | p.T2056S | Missense | 33/36 | - | 1 |
14-71572026-C-T | c.6170C>T | p.S2057F | Missense | 33/36 | - | 2 |
14-71572034-G-T | c.6178G>T | p.G2060C | Missense | 33/36 | - | 1 |
14-71572035-G-T | c.6179G>T | p.G2060V | Missense | 33/36 | - | 1 |
14-71572038-A-G | c.6182A>G | p.N2061S | Missense | 33/36 | - | 1 |
14-71572043-G-A | c.6187G>A | p.A2063T | Missense | 33/36 | - | 1 |
14-71572048-A-C | c.6192A>C | p.T2064= | Synonymous | 33/36 | - | 1 |
14-71572048-A-G | c.6192A>G | p.T2064= | Synonymous | 33/36 | - | 1 |
14-71572048-A-T | c.6192A>T | p.T2064= | Synonymous | 33/36 | - | 1 |
14-71572052-G-A | c.6196G>A | p.A2066T | Missense | 33/36 | - | 1 |
14-71572053-C-T | c.6197C>T | p.A2066V | Missense | 33/36 | - | 1 |
14-71572068-G-A | c.6212G>A | p.S2071N | Missense | 33/36 | - | 1 |
14-71572086-G-C | c.6230G>C | p.S2077T | Missense | 33/36 | - | 2 |
14-71572094-A-C | c.6238A>C | p.N2080H | Missense | 33/36 | - | 1 |
14-71572105-G-A | c.6249G>A | p.Q2083= | Synonymous | 33/36 | - | 2 |
14-71572111-A-C | c.6255A>C | p.S2085= | Synonymous | 33/36 | - | 1 |
14-71572111-A-G | c.6255A>G | p.S2085= | Synonymous | 33/36 | - | 1 |
14-71572111-A-T | c.6255A>T | p.S2085= | Synonymous | 33/36 | - | 1 |
14-71572115-A-G | c.6259A>G | p.T2087A | Missense | 33/36 | - | 1 |
14-71572116-C-T | c.6260C>T | p.T2087I | Missense | 33/36 | - | 1 |
14-71572122-T-G | c.6266T>G | p.L2089R | Missense | 33/36 | - | 1 |
14-71572127-C-A | c.6271C>A | p.P2091T | Missense | 33/36 | - | 1 |
14-71572134-T-TG | c.6278_6279insG | p.T2094Hfs*10 | Frameshift | 33/36 | - | 1 |
14-71572135-C-T | c.6279C>T | p.V2093= | Synonymous | 33/36 | - | 1 |
14-71572141-T-C | c.6285T>C | p.S2095= | Synonymous | 33/36 | - | 1 |
14-71572148-C-A | c.6292C>A | p.P2098T | Missense | 33/36 | - | 2 |
14-71572154-C-T | c.6298C>T | p.L2100= | Synonymous | 33/36 | - | 1 |
14-71572155-T-C | c.6299T>C | p.L2100P | Missense | 33/36 | - | 1 |
14-71572157-G-T | c.6301G>T | p.G2101C | Missense | 33/36 | - | 1 |
14-71575201-G-A | c.6302-120G>A | - | IntronicSNV | - | 33/35 | 1 |
14-71575201-G-T | c.6302-120G>T | - | IntronicSNV | - | 33/35 | 1 |
14-71575342-C-T | c.6323C>T | p.S2108F | Missense | 34/36 | - | 1 |
14-71575342-CTG-C | c.6326_6327del | p.V2109Afs*23 | Frameshift | 34/36 | - | 1 |
14-71575352-G-A | c.6333G>A | p.S2111= | Synonymous | 34/36 | - | 2 |
14-71575356-C-A | c.6337C>A | p.L2113M | Missense | 34/36 | - | 2 |
14-71575359-G-A | c.6340G>A | p.V2114I | Missense | 34/36 | - | 1 |
14-71575366-A-T | c.6347A>T | p.Q2116L | Missense | 34/36 | - | 1 |
14-71575377-C-T | c.6358C>T | p.R2120W | Missense | 34/36 | - | 1 |
14-71575382-C-A | c.6363C>A | p.A2121= | Synonymous | 34/36 | - | 2 |
14-71575382-C-G | c.6363C>G | p.A2121= | Synonymous | 34/36 | - | 3 |
14-71575382-C-T | c.6363C>T | p.A2121= | Synonymous | 34/36 | - | 2 |
14-71575400-T-C | c.6381T>C | p.S2127= | Synonymous | 34/36 | - | 1 |
14-71575411-A-G | c.6392A>G | p.Y2131C | Missense | 34/36 | - | 1 |
14-71575419-C-T | c.6400C>T | p.R2134W | Missense | 34/36 | - | 2 |
14-71575420-G-A | c.6401G>A | p.R2134Q | Missense | 34/36 | - | 1 |
14-71575423-A-G | c.6404A>G | p.H2135R | Missense | 34/36 | - | 2 |
14-71575426-C-T | c.6407C>T | p.S2136L | Missense | 34/36 | - | 1 |
14-71575434-C-T | c.6415C>T | p.R2139W | Missense | 34/36 | - | 2 |
14-71575442-C-A | c.6423C>A | p.S2141= | Synonymous | 34/36 | - | 2 |
14-71575442-C-G | c.6423C>G | p.S2141= | Synonymous | 34/36 | - | 2 |
14-71575442-C-T | c.6423C>T | p.S2141= | Synonymous | 34/36 | - | 2 |
14-71575457-G-A | c.6438G>A | p.V2146= | Synonymous | 34/36 | - | 1 |
14-71575457-G-C | c.6438G>C | p.V2146= | Synonymous | 34/36 | - | 1 |
14-71575457-G-T | c.6438G>T | p.V2146= | Synonymous | 34/36 | - | 1 |
14-71575458-C-T | c.6439C>T | p.P2147S | Missense | 34/36 | - | 1 |
14-71575464-C-T | c.6445C>T | p.R2149W | Missense | 34/36 | - | 4 |
14-71575465-G-A | c.6446G>A | p.R2149Q | Missense | 34/36 | - | 1 |
14-71575465-G-T | c.6446G>T | p.R2149L | Missense | 34/36 | - | 1 |
14-71575467-C-T | c.6448C>T | p.R2150C | Missense | 34/36 | - | 1 |
14-71575473-T-C | c.6454T>C | p.S2152P | Missense | 34/36 | - | 1 |
14-71575475-T-A | c.6456T>A | p.S2152= | Synonymous | 34/36 | - | 1 |
14-71575475-T-C | c.6456T>C | p.S2152= | Synonymous | 34/36 | - | 1 |
14-71575475-T-G | c.6456T>G | p.S2152= | Synonymous | 34/36 | - | 1 |
14-71575489-C-T | c.6470C>T | p.S2157L | Missense | 34/36 | - | 3 |
14-71575494-C-T | c.6475C>T | p.R2159* | Nonsense | 34/36 | - | 3 |
14-71575495-G-A | c.6476G>A | p.R2159Q | Missense | 34/36 | - | 3 |
14-71575500-T-C | c.6481T>C | p.L2161= | Synonymous | 34/36 | - | 1 |
14-71575502-G-A | c.6483G>A | p.L2161= | Synonymous | 34/36 | - | 1 |
14-71575503-C-T | c.6484C>T | p.P2162S | Missense | 34/36 | - | 1 |
14-71575507-C-T | c.6488C>T | p.S2163L | Missense | 34/36 | - | 2 |
14-71575512-A-C | c.6493A>C | p.I2165L | Missense | 34/36 | - | 1 |
14-71575515-C-T | c.6496C>T | p.Q2166* | Nonsense | 34/36 | - | 2 |
14-71575519-C-A | c.6500C>A | p.S2167Y | Missense | 34/36 | - | 2 |
14-71575521-C-T | c.6502C>T | p.R2168* | Nonsense | 34/36 | - | 3 |
14-71575528-C-T | c.6509C>T | p.S2170L | Missense | 34/36 | - | 3 |
14-71575529-G-A | c.6510G>A | p.S2170= | Synonymous | 34/36 | - | 1 |
14-71575529-G-C | c.6510G>C | p.S2170= | Synonymous | 34/36 | - | 1 |
14-71575529-G-T | c.6510G>T | p.S2170= | Synonymous | 34/36 | - | 2 |
14-71575530-A-T | c.6511A>T | p.M2171L | Missense | 34/36 | - | 1 |
14-71575537-A-T | c.6518A>T | p.N2173I | Missense | 34/36 | - | 1 |
14-71575549-CCTCAGGT-C | c.6532_6538del | p.S2178Rfs*51 | Frameshift | 34/36 | - | 1 |
14-71575553-A-C | c.6534A>C | p.S2178= | Synonymous | 34/36 | - | 1 |
14-71575562-C-T | c.6543C>T | p.S2181= | Synonymous | 34/36 | - | 3 |
14-71575563-G-A | c.6544G>A | p.G2182S | Missense | 34/36 | - | 1 |
14-71575569-G-A | c.6550G>A | p.A2184T | Missense | 34/36 | - | 1 |
14-71575582-A-G | c.6563A>G | p.H2188R | Missense | 34/36 | - | 2 |
14-71575584-G-A | c.6565G>A | p.G2189S | Missense | 34/36 | - | 2 |
14-71575586-C-T | c.6567C>T | p.G2189= | Synonymous | 34/36 | - | 1 |
14-71575589-G-A | c.6570G>A | p.L2190= | Synonymous | 34/36 | - | 1 |
14-71575592-T-C | c.6573T>C | p.P2191= | Synonymous | 34/36 | - | 1 |
14-71575597-C-A | c.6578C>A | p.S2193Y | Missense | 34/36 | - | 4 |
14-71575599-A-G | c.6580A>G | p.S2194G | Missense | 34/36 | - | 1 |
14-71575607-C-T | c.6588C>T | p.S2196= | Synonymous | 34/36 | - | 3 |
14-71575611-C-A | c.6592C>A | p.Q2198K | Missense | 34/36 | - | 1 |
14-71575613-A-G | c.6594A>G | p.Q2198= | Synonymous | 34/36 | - | 1 |
14-71575619-C-T | c.6600C>T | p.I2200= | Synonymous | 34/36 | - | 2 |
14-71575625-C-T | c.6606C>T | p.A2202= | Synonymous | 34/36 | - | 1 |
14-71575634-T-C | c.6615T>C | p.H2205= | Synonymous | 34/36 | - | 1 |
14-71575638-A-C | c.6619A>C | p.T2207P | Missense | 34/36 | - | 1 |
14-71575642-TC-AA | c.6623_6624delinsAA | p.L2208Q | Missense | 34/36 | - | 1 |
14-71575643-C-A | c.6624C>A | p.L2208= | Synonymous | 34/36 | - | 4 |
14-71575643-C-G | c.6624C>G | p.L2208= | Synonymous | 34/36 | - | 2 |
14-71575643-C-T | c.6624C>T | p.L2208= | Synonymous | 34/36 | - | 3 |
14-71575644-G-A | c.6625G>A | p.V2209M | Missense | 34/36 | - | 2 |
14-71575644-G-C | c.6625G>C | p.V2209L | Missense | 34/36 | - | 1 |
14-71575644-G-T | c.6625G>T | p.V2209L | Missense | 34/36 | - | 1 |
14-71575648-G-A | c.6629G>A | p.G2210D | Missense | 34/36 | - | 2 |
14-71575649-C-T | c.6630C>T | p.G2210= | Synonymous | 34/36 | - | 3 |
14-71575654-T-C | c.6635T>C | p.L2212P | Missense | 34/36 | - | 1 |
14-71575657-C-T | c.6638C>T | p.A2213V | Missense | 34/36 | - | 1 |
14-71575658-G-A | c.6639G>A | p.A2213= | Synonymous | 34/36 | - | 1 |
14-71575658-G-C | c.6639G>C | p.A2213= | Synonymous | 34/36 | - | 1 |
14-71575658-G-T | c.6639G>T | p.A2213= | Synonymous | 34/36 | - | 1 |
14-71575663-AG-A | c.6647del | p.G2216Efs*15 | Frameshift | 34/36 | - | 1 |
14-71575673-G-C | c.6654G>C | p.Q2218H | Missense | 34/36 | - | 1 |
14-71575674-A-G | c.6655A>G | p.S2219G | Missense | 34/36 | - | 1 |
14-71575674-A-T | c.6655A>T | p.S2219C | Missense | 34/36 | - | 1 |
14-71575680-G-A | c.6661G>A | p.A2221T | Missense | 34/36 | - | 2 |
14-71575684-C-A | c.6665C>A | p.T2222N | Missense | 34/36 | - | 1 |
14-71575684-C-T | c.6665C>T | p.T2222I | Missense | 34/36 | - | 1 |
14-71575686-G-C | c.6667G>C | p.D2223H | Missense | 34/36 | - | 2 |
14-71575688-T-A | c.6669T>A | p.D2223E | Missense | 34/36 | - | 1 |
14-71575703-C-T | c.6684C>T | p.N2228= | Synonymous | 34/36 | - | 4 |
14-71575705-C-T | c.6686C>T | p.T2229I | Missense | 34/36 | - | 6 |
14-71575708-T-C | c.6689T>C | p.L2230S | Missense | 34/36 | - | 1 |
14-71575713-C-T | c.6694C>T | p.P2232S | Missense | 34/36 | - | 1 |
14-71575716-G-A | c.6697G>A | p.A2233T | Missense | 34/36 | - | 4 |
14-71575717-C-T | c.6698C>T | p.A2233V | Missense | 34/36 | - | 1 |
14-71575725-T-C | c.6706T>C | p.S2236P | Missense | 34/36 | - | 1 |
14-71575729-A-G | c.6710A>G | p.H2237R | Missense | 34/36 | - | 2 |
14-71575735-G-T | c.6716G>T | p.R2239I | Missense | 34/36 | - | 1 |
14-71575750-T-C | c.6731T>C | p.I2244T | Missense | 34/36 | - | 1 |
14-71575756-G-T | c.6737G>T | p.R2246I | Missense | 34/36 | - | 1 |
14-71575758-GTC-ATG | c.6739_6741delinsATG | p.V2247M | Missense | 34/36 | - | 1 |
14-71576170-TT-GG | c.6746_6747delinsGG | p.I2249R | Missense | 35/36 | - | 1 |
14-71576178-CC-AT | c.6754_6755delinsAT | p.P2252I | Missense | 35/36 | - | 3 |
14-71576179-C-T | c.6755C>T | p.P2252L | Missense | 35/36 | - | 1 |
14-71576182-G-T | c.6758G>T | p.S2253I | Missense | 35/36 | - | 1 |
14-71576206-T-C | c.6782T>C | p.L2261P | Missense | 35/36 | - | 1 |
14-71576209-C-G | c.6785C>G | p.S2262C | Missense | 35/36 | - | 3 |
14-71576214-AGG-CAT | c.6790_6792delinsCAT | p.R2264H | Missense | 35/36 | - | 1 |
14-71576215-G-A | c.6791G>A | p.R2264K | Missense | 35/36 | - | 6 |
14-71576215-G-T | c.6791G>T | p.R2264M | Missense | 35/36 | - | 1 |
14-71576216-G-T | c.6792G>T | p.R2264S | Missense | 35/36 | - | 1 |
14-71576229-T-C | c.6805T>C | p.W2269R | Missense | 35/36 | - | 2 |
14-71576232-C-T | c.6808C>T | p.P2270S | Missense | 35/36 | - | 1 |
14-71576238-G-A | c.6814G>A | p.E2272K | Missense | 35/36 | - | 1 |
14-71576242-G-A | c.6818G>A | p.G2273E | Missense | 35/36 | - | 3 |
14-71576246-C-T | c.6822C>T | p.I2274= | Synonymous | 35/36 | - | 4 |
14-71576247-C-G | c.6823C>G | p.R2275G | Missense | 35/36 | - | 1 |
14-71576247-C-T | c.6823C>T | p.R2275W | Missense | 35/36 | - | 3 |
14-71576248-G-A | c.6824G>A | p.R2275Q | Missense | 35/36 | - | 3 |
14-71576250-T-A | c.6826T>A | p.L2276I | Missense | 35/36 | - | 1 |
14-71576251-T-A | c.6827T>A | p.L2276* | Nonsense | 35/36 | - | 1 |
14-71576251-T-G | c.6827T>G | p.L2276* | Nonsense | 35/36 | - | 1 |
14-71576259-GGG-AGC | c.6835_6837delinsAGC | p.G2279S | Missense | 35/36 | - | 1 |
14-71576260-G-T | c.6836G>T | p.G2279V | Missense | 35/36 | - | 3 |
14-71576269-G-A | c.6845G>A | p.S2282N | Missense | 35/36 | - | 1 |
14-71576281-G-A | c.6857G>A | p.W2286* | Nonsense | 35/36 | - | 1 |
14-71576282-G-A | c.6858G>A | p.W2286* | Nonsense | 35/36 | - | 1 |
14-71576284-G-T | c.6860G>T | p.S2287I | Missense | 35/36 | - | 2 |
14-71576287-C-A | c.6863C>A | p.P2288Q | Missense | 35/36 | - | 1 |
14-71576288-G-A | c.6864G>A | p.P2288= | Synonymous | 35/36 | - | 2 |
14-71576288-G-C | c.6864G>C | p.P2288= | Synonymous | 35/36 | - | 1 |
14-71576288-G-T | c.6864G>T | p.P2288= | Synonymous | 35/36 | - | 1 |
14-71576291-G-T | c.6867G>T | p.Q2289H | Missense | 35/36 | - | 1 |
14-71576292-G-T | c.6868G>T | p.E2290* | Nonsense | 35/36 | - | 1 |
14-71576294-G-C | c.6870G>C | p.E2290D | Missense | 35/36 | - | 1 |
14-71576294-G-T | c.6870G>T | p.E2290D | Missense | 35/36 | - | 1 |
14-71576295-G-T | c.6871G>T | p.G2291C | Missense | 35/36 | - | 6 |
14-71576296-G-T | c.6872G>T | p.G2291V | Missense | 35/36 | - | 1 |
14-71576302-A-G | c.6878A>G | p.E2293G | Missense | 35/36 | - | 1 |
14-71576307-C-T | c.6883C>T | p.H2295Y | Missense | 35/36 | - | 8 |
14-71576389-A-C | c.6885+80A>C | - | IntronicSNV | - | 35/35 | 1 |
14-71576440-G-T | c.6886-72G>T | - | IntronicSNV | - | 35/35 | 1 |
14-71576515-A-G | c.6889A>G | p.I2297V | Missense | 36/36 | - | 1 |
14-71576515-A-T | c.6889A>T | p.I2297F | Missense | 36/36 | - | 1 |
14-71576518-C-T | c.6892C>T | p.H2298Y | Missense | 36/36 | - | 2 |
14-71576521-C-T | c.6895C>T | p.R2299* | Nonsense | 36/36 | - | 2 |
14-71576522-G-A | c.6896G>A | p.R2299Q | Missense | 36/36 | - | 5 |
14-71576522-G-GATA | c.6898_6899insAAT | p.R2299_W2300ins* | InFrameInsertion | 36/36 | - | 1 |
14-71576524-T-A | c.6898T>A | p.W2300R | Missense | 36/36 | - | 2 |
14-71576524-T-C | c.6898T>C | p.W2300R | Missense | 36/36 | - | 1 |
14-71576528-T-C | c.6902T>C | p.V2301A | Missense | 36/36 | - | 2 |
14-71576535-C-T | c.6909C>T | p.C2303= | Synonymous | 36/36 | - | 2 |
14-71576539-A-G | c.6913A>G | p.R2305G | Missense | 36/36 | - | 1 |
14-71576548-G-A | c.6922G>A | p.G2308S | Missense | 36/36 | - | 1 |
14-71576555-G-T | c.6929G>T | p.R2310I | Missense | 36/36 | - | 1 |
14-71576558-C-T | c.6932C>T | p.S2311F | Missense | 36/36 | - | 1 |
14-71576562-C-T | c.6936C>T | p.H2312= | Synonymous | 36/36 | - | 2 |
14-71576563-A-G | c.6937A>G | p.I2313V | Missense | 36/36 | - | 1 |
14-71576565-C-T | c.6939C>T | p.I2313= | Synonymous | 36/36 | - | 4 |
14-71576566-G-A | c.6940G>A | p.D2314N | Missense | 36/36 | - | 2 |
14-71576572-G-A | c.6946G>A | p.A2316T | Missense | 36/36 | - | 1 |
14-71576582-T-A | c.6956T>A | p.L2319Q | Missense | 36/36 | - | 1 |
14-71576588-A-G | c.6962A>G | p.Q2321R | Missense | 36/36 | - | 1 |
14-71576593-G-A | c.6967G>A | p.D2323N | Missense | 36/36 | - | 1 |
14-71576599-A-T | c.6973A>T | p.K2325* | Nonsense | 36/36 | - | 1 |
14-71576605-G-C | c.6979G>C | p.V2327L | Missense | 36/36 | - | 1 |
14-71576605-G-T | c.6979G>T | p.V2327L | Missense | 36/36 | - | 1 |
14-71576614-A-G | c.6988A>G | p.I2330V | Missense | 36/36 | - | 1 |
14-71576615-T-G | c.6989T>G | p.I2330S | Missense | 36/36 | - | 1 |
14-71576625-G-T | c.6999G>T | p.G2333= | Synonymous | 36/36 | - | 1 |
14-71576629-CTA-TTT | c.7003_7005delinsTTT | p.L2335F | Missense | 36/36 | - | 1 |
14-71576637-T-G | c.7011T>G | p.L2337= | Synonymous | 36/36 | - | 1 |
14-71576639-G-A | c.7013G>A | p.G2338E | Missense | 36/36 | - | 1 |
14-71576642-C-A | c.7016C>A | p.A2339D | Missense | 36/36 | - | 1 |
14-71576644-G-A | c.7018G>A | p.E2340K | Missense | 36/36 | - | 1 |
14-71576700-G-A | c.*48G>A | - | 3-UTRSNV | 36/36 | - | 1 |
14-71576733-C-T | c.*81C>T | - | 3-UTRSNV | 36/36 | - | 1 |
14-71577304-T-C | c.*652T>C | - | 3-UTRSNV | 36/36 | - | 1 |
14-71577480-G-A | c.*828G>A | - | 3-UTRSNV | 36/36 | - | 3 |
14-71577480-G-C | c.*828G>C | - | 3-UTRSNV | 36/36 | - | 3 |
14-71577744-T-TA | c.*1093dup | - | 3-UTRInsertion | 36/36 | - | 1 |
14-71577898-C-G | c.*1246C>G | - | 3-UTRSNV | 36/36 | - | 1 |
14-71577898-C-T | c.*1246C>T | - | 3-UTRSNV | 36/36 | - | 1 |
14-71578741-G-A | c.*2089G>A | - | 3-UTRSNV | 36/36 | - | 2 |
14-71579135-A-C | c.*2483A>C | - | 3-UTRSNV | 36/36 | - | 3 |
14-71579629-T-G | c.*2977T>G | - | 3-UTRSNV | 36/36 | - | 2 |
14-71579648-C-T | c.*2996C>T | - | 3-UTRSNV | 36/36 | - | 1 |
14-71580778-G-A | c.*4126G>A | - | 3-UTRSNV | 36/36 | - | 5 |
14-71581032-G-A | c.*4380G>A | - | 3-UTRSNV | 36/36 | - | 1 |