PCNX1

PCNX1 pecanex 1

Annotation transcript: NM_014982.3

2070 unique variant annotations were identified in 510 publications

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