Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-55013969-G-A | c.-14G>A | - | 5-UTRSNV | 1/16 | - | 1 |
1-55013977-G-A | c.-6G>A | - | 5-UTRSNV | 1/16 | - | 1 |
1-55013999-G-A | c.17G>A | p.G6E | Missense | 1/16 | - | 1 |
1-55014006-C-A | c.24C>A | p.H8Q | Missense | 1/16 | - | 1 |
1-55014006-C-G | c.24C>G | p.H8Q | Missense | 1/16 | - | 1 |
1-55014013-C-G | c.31C>G | p.R11G | Missense | 1/16 | - | 1 |
1-55014013-C-T | c.31C>T | p.R11W | Missense | 1/16 | - | 9 |
1-55014014-G-A | c.32G>A | p.R11Q | Missense | 1/16 | - | 1 |
1-55014095-C-T | c.33+80C>T | - | IntronicSNV | - | 1/15 | 2 |
1-55014099-C-T | c.33+84C>T | - | IntronicSNV | - | 1/15 | 5 |
1-55014100-G-A | c.33+85G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55014100-G-T | c.33+85G>T | - | IntronicSNV | - | 1/15 | 1 |
1-55014102-T-C | c.33+87T>C | - | IntronicSNV | - | 1/15 | 2 |
1-55014114-C-T | c.33+99C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55014160-C-T | c.33+145C>T | - | IntronicSNV | - | 1/15 | 7 |
1-55017342-C-CT | c.33+3334dup | - | IntronicInsertion | - | 1/15 | 1 |
1-55019988-G-A | c.33+5973G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55019988-G-GTGTA | c.33+5976_33+5977insATGT | - | IntronicInsertion | - | 1/15 | 1 |
1-55020004-G-GTATA | c.33+5990_33+5991insATAT | - | IntronicInsertion | - | 1/15 | 1 |
1-55020004-G-GTATATATATA | c.33+5990_33+5991insATATATATAT | - | IntronicInsertion | - | 1/15 | 1 |
1-55020006-G-A | c.33+5991G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55020006-G-T | c.33+5991G>T | - | IntronicSNV | - | 1/15 | 1 |
1-55024928-C-T | c.33+10913C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55026016-G-T | c.33+12001G>T | - | IntronicSNV | - | 1/15 | 1 |
1-55026558-C-T | c.33+12543C>T | - | IntronicSNV | - | 1/15 | 2 |
1-55029087-C-T | c.33+15072C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55032046-C-G | c.33+18031C>G | - | IntronicSNV | - | 1/15 | 1 |
1-55035260-G-A | c.34-15068G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55042648-C-T | c.34-7680C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55044940-C-T | c.34-5388C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55045039-G-A | c.34-5289G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55045930-C-A | c.34-4398C>A | - | IntronicSNV | - | 1/15 | 1 |
1-55045983-G-A | c.34-4345G>A | - | IntronicSNV | - | 1/15 | 2 |
1-55045983-G-C | c.34-4345G>C | - | IntronicSNV | - | 1/15 | 2 |
1-55046039-G-C | c.34-4289G>C | - | IntronicSNV | - | 1/15 | 2 |
1-55046039-G-T | c.34-4289G>T | - | IntronicSNV | - | 1/15 | 2 |
1-55046392-G-A | c.34-3936G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55046535-C-G | c.34-3793C>G | - | IntronicSNV | - | 1/15 | 1 |
1-55046535-C-T | c.34-3793C>T | - | IntronicSNV | - | 1/15 | 1 |
1-55047724-G-A | c.34-2604G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55047724-G-C | c.34-2604G>C | - | IntronicSNV | - | 1/15 | 1 |
1-55048098-C-G | c.34-2230C>G | - | IntronicSNV | - | 1/15 | 1 |
1-55048190-G-A | c.34-2138G>A | - | IntronicSNV | - | 1/15 | 1 |
1-55048942-G-C | c.34-1386G>C | - | IntronicSNV | - | 1/15 | 1 |
1-55048942-G-T | c.34-1386G>T | - | IntronicSNV | - | 1/15 | 1 |
1-55050053-A-C | c.34-275A>C | - | IntronicSNV | - | 1/15 | 1 |
1-55050115-A-G | c.34-213A>G | - | IntronicSNV | - | 1/15 | 2 |
1-55050334-GC-AA | c.40_41delinsAA | p.A14N | Missense | 2/16 | - | 1 |
1-55050334-GCC-TGG | c.40_42delinsTGG | p.A14W | Missense | 2/16 | - | 1 |
1-55050335-C-T | c.41C>T | p.A14V | Missense | 2/16 | - | 1 |
1-55050338-C-G | c.44C>G | p.S15C | Missense | 2/16 | - | 1 |
1-55050346-TC-GA | c.52_53inv | p.S18D | Missense | 2/16 | - | 1 |
1-55050347-CCAACCGCACATCCCGGAAGT-C | c.56_75del | p.N19Sfs*38 | Frameshift | 2/16 | - | 1 |
1-55050352-C-A | c.58C>A | p.R20S | Missense | 2/16 | - | 1 |
1-55050353-G-A | c.59G>A | p.R20H | Missense | 2/16 | - | 8 |
1-55050353-G-T | c.59G>T | p.R20L | Missense | 2/16 | - | 4 |
1-55050359-C-T | c.65C>T | p.S22F | Missense | 2/16 | - | 2 |
1-55050361-C-A | c.67C>A | p.R23= | Synonymous | 2/16 | - | 1 |
1-55050361-C-T | c.67C>T | p.R23W | Missense | 2/16 | - | 3 |
1-55050363-G-A | c.69G>A | p.R23= | Synonymous | 2/16 | - | 1 |
1-55050363-G-C | c.69G>C | p.R23= | Synonymous | 2/16 | - | 1 |
1-55050363-G-T | c.69G>T | p.R23= | Synonymous | 2/16 | - | 1 |
1-55050367-TCA-GAC | c.73_75delinsGAC | p.S25D | Missense | 2/16 | - | 1 |
1-55050367-TC-GG | c.73_74delinsGG | p.S25G | Missense | 2/16 | - | 1 |
1-55050370-GC-TG | c.76_77delinsTG | p.A26C | Missense | 2/16 | - | 2 |
1-55050373-T-A | c.79T>A | p.L27I | Missense | 2/16 | - | 1 |
1-55050376-C-T | c.82C>T | p.R28C | Missense | 2/16 | - | 1 |
1-55050377-G-T | c.83G>T | p.R28L | Missense | 2/16 | - | 1 |
1-55050379-G-A | c.85G>A | p.A29T | Missense | 2/16 | - | 2 |
1-55050379-GC-AG | c.85_86delinsAG | p.A29R | Missense | 2/16 | - | 1 |
1-55050379-GC-AT | c.85_86delinsAT | p.A29M | Missense | 2/16 | - | 1 |
1-55050380-C-A | c.86C>A | p.A29E | Missense | 2/16 | - | 1 |
1-55050380-CG-AC | c.86_87delinsAC | p.A29D | Missense | 2/16 | - | 1 |
1-55050380-C-T | c.86C>T | p.A29V | Missense | 2/16 | - | 2 |
1-55050381-G-A | c.87G>A | p.A29= | Synonymous | 2/16 | - | 1 |
1-55050381-G-C | c.87G>C | p.A29= | Synonymous | 2/16 | - | 1 |
1-55050381-G-T | c.87G>T | p.A29= | Synonymous | 2/16 | - | 1 |
1-55050382-G-A | c.88G>A | p.G30R | Missense | 2/16 | - | 4 |
1-55050382-G-C | c.88G>C | p.G30R | Missense | 2/16 | - | 1 |
1-55050384-G-A | c.90G>A | p.G30= | Synonymous | 2/16 | - | 1 |
1-55050387-C-T | c.93C>T | p.N31= | Synonymous | 2/16 | - | 1 |
1-55050388-G-A | c.94G>A | p.D32N | Missense | 2/16 | - | 1 |
1-55050390-C-T | c.96C>T | p.D32= | Synonymous | 2/16 | - | 1 |
1-55050391-A-G | c.97A>G | p.S33G | Missense | 2/16 | - | 1 |
1-55050392-G-C | c.98G>C | p.S33T | Missense | 2/16 | - | 1 |
1-55050398-T-A | c.104T>A | p.M35K | Missense | 2/16 | - | 1 |
1-55050400-G-A | c.106G>A | p.A36T | Missense | 2/16 | - | 1 |
1-55050404-A-C | c.110A>C | p.D37A | Missense | 2/16 | - | 1 |
1-55050405-C-T | c.111C>T | p.D37= | Synonymous | 2/16 | - | 3 |
1-55050406-G-T | c.112G>T | p.G38C | Missense | 2/16 | - | 1 |
1-55050408-C-A | c.114C>A | p.G38= | Synonymous | 2/16 | - | 1 |
1-55050408-C-G | c.114C>G | p.G38= | Synonymous | 2/16 | - | 1 |
1-55050408-C-T | c.114C>T | p.G38= | Synonymous | 2/16 | - | 1 |
1-55050413-G-A | c.119G>A | p.G40E | Missense | 2/16 | - | 3 |
1-55050419-G-A | c.125G>A | p.R42Q | Missense | 2/16 | - | 1 |
1-55050423-C-G | c.129C>G | p.N43K | Missense | 2/16 | - | 1 |
1-55050424-C-T | c.130C>T | p.P44S | Missense | 2/16 | - | 1 |
1-55050427-A-G | c.133A>G | p.T45A | Missense | 2/16 | - | 1 |
1-55050428-C-T | c.134C>T | p.T45M | Missense | 2/16 | - | 1 |
1-55050429-G-A | c.135G>A | p.T45= | Synonymous | 2/16 | - | 3 |
1-55050429-G-C | c.135G>C | p.T45= | Synonymous | 2/16 | - | 2 |
1-55050429-G-T | c.135G>T | p.T45= | Synonymous | 2/16 | - | 2 |
1-55050430-G-A | c.136G>A | p.E46K | Missense | 2/16 | - | 5 |
1-55050433-G-C | c.139G>C | p.V47L | Missense | 2/16 | - | 1 |
1-55050433-G-T | c.139G>T | p.V47L | Missense | 2/16 | - | 2 |
1-55050438-G-C | c.144G>C | p.Q48H | Missense | 2/16 | - | 1 |
1-55050438-G-T | c.144G>T | p.Q48H | Missense | 2/16 | - | 1 |
1-55050454-C-T | c.160C>T | p.L54= | Synonymous | 2/16 | - | 1 |
1-55050461-G-T | c.167G>T | p.C56F | Missense | 2/16 | - | 1 |
1-55050464-A-G | c.170A>G | p.H57R | Missense | 2/16 | - | 1 |
1-55050471-C-G | c.177C>G | p.N59K | Missense | 2/16 | - | 1 |
1-55050475-CGT-TGG | c.181_183delinsTGG | p.R61W | Missense | 2/16 | - | 1 |
1-55050476-G-A | c.182G>A | p.R61H | Missense | 2/16 | - | 2 |
1-55050478-GG-AT | c.184_185delinsAT | p.G62I | Missense | 2/16 | - | 1 |
1-55050488-G-A | c.194G>A | p.S65N | Missense | 2/16 | - | 1 |
1-55050489-C-T | c.195C>T | p.S65= | Synonymous | 2/16 | - | 1 |
1-55050492-C-T | c.198C>T | p.V66= | Synonymous | 2/16 | - | 3 |
1-55050493-G-A | c.199G>A | p.G67R | Missense | 2/16 | - | 1 |
1-55050494-G-A | c.200G>A | p.G67E | Missense | 2/16 | - | 1 |
1-55050495-G-T | c.201G>T | p.G67= | Synonymous | 2/16 | - | 1 |
1-55050496-C-A | c.202C>A | p.Q68K | Missense | 2/16 | - | 1 |
1-55050516-C-A | c.222C>A | p.D74E | Missense | 2/16 | - | 1 |
1-55050516-C-G | c.222C>G | p.D74E | Missense | 2/16 | - | 1 |
1-55050517-A-C | c.223A>C | p.T75P | Missense | 2/16 | - | 1 |
1-55050632-C-T | c.241+97C>T | - | IntronicSNV | - | 2/15 | 2 |
1-55051509-G-A | c.243G>A | p.A81= | Synonymous | 3/16 | - | 1 |
1-55051509-G-C | c.243G>C | p.A81= | Synonymous | 3/16 | - | 1 |
1-55051509-G-T | c.243G>T | p.A81= | Synonymous | 3/16 | - | 1 |
1-55051512-G-C | c.246G>C | p.E82D | Missense | 3/16 | - | 1 |
1-55051512-G-T | c.246G>T | p.E82D | Missense | 3/16 | - | 1 |
1-55051513-AGG-TGT | c.247_249delinsTGT | p.R83C | Missense | 3/16 | - | 1 |
1-55051520-C-T | c.254C>T | p.A85V | Missense | 3/16 | - | 1 |
1-55051529-C-T | c.263C>T | p.P88L | Missense | 3/16 | - | 1 |
1-55051533-T-A | c.267T>A | p.C89* | Nonsense | 3/16 | - | 2 |
1-55051536-C-A | c.270C>A | p.V90= | Synonymous | 3/16 | - | 1 |
1-55051536-C-G | c.270C>G | p.V90= | Synonymous | 3/16 | - | 1 |
1-55051536-C-T | c.270C>T | p.V90= | Synonymous | 3/16 | - | 1 |
1-55051537-A-C | c.271A>C | p.T91P | Missense | 3/16 | - | 1 |
1-55051544-C-T | c.278C>T | p.S93F | Missense | 3/16 | - | 1 |
1-55051548-G-A | c.282G>A | p.M94I | Missense | 3/16 | - | 2 |
1-55051553-A-G | c.287A>G | p.D96G | Missense | 3/16 | - | 1 |
1-55051556-T-C | c.290T>C | p.I97T | Missense | 3/16 | - | 1 |
1-55051564-G-T | c.298G>T | p.E100* | Nonsense | 3/16 | - | 2 |
1-55051568-A-G | c.302A>G | p.H101R | Missense | 3/16 | - | 1 |
1-55051570-A-T | c.304A>T | p.T102S | Missense | 3/16 | - | 1 |
1-55051571-C-G | c.305C>G | p.T102S | Missense | 3/16 | - | 1 |
1-55051573-A-G | c.307A>G | p.I103V | Missense | 3/16 | - | 1 |
1-55051577-G-A | c.311G>A | p.S104N | Missense | 3/16 | - | 1 |
1-55051663-G-A | c.311+86G>A | - | IntronicSNV | - | 3/15 | 4 |
1-55051899-A-C | c.311+322A>C | - | IntronicSNV | - | 3/15 | 2 |
1-55052031-G-A | c.311+454G>A | - | IntronicSNV | - | 3/15 | 1 |
1-55052031-G-T | c.311+454G>T | - | IntronicSNV | - | 3/15 | 1 |
1-55052071-G-A | c.311+494G>A | - | IntronicSNV | - | 3/15 | 1 |
1-55052071-G-C | c.311+494G>C | - | IntronicSNV | - | 3/15 | 1 |
1-55052071-G-T | c.311+494G>T | - | IntronicSNV | - | 3/15 | 1 |
1-55054559-C-A | c.311+2982C>A | - | IntronicSNV | - | 3/15 | 1 |
1-55057958-G-A | c.312-261G>A | - | IntronicSNV | - | 3/15 | 2 |
1-55058023-A-C | c.312-196A>C | - | IntronicSNV | - | 3/15 | 1 |
1-55058222-T-A | c.315T>A | p.V105= | Synonymous | 4/16 | - | 1 |
1-55058223-G-T | c.316G>T | p.G106* | Nonsense | 4/16 | - | 1 |
1-55058224-G-T | c.317G>T | p.G106V | Missense | 4/16 | - | 4 |
1-55058233-T-C | c.326T>C | p.V109A | Missense | 4/16 | - | 1 |
1-55058240-C-A | c.333C>A | p.I111= | Synonymous | 4/16 | - | 1 |
1-55058240-C-T | c.333C>T | p.I111= | Synonymous | 4/16 | - | 2 |
1-55058245-C-T | c.338C>T | p.A113V | Missense | 4/16 | - | 1 |
1-55058256-C-A | c.349C>A | p.R117= | Synonymous | 4/16 | - | 1 |
1-55058258-G-C | c.351G>C | p.R117= | Synonymous | 4/16 | - | 1 |
1-55058258-G-T | c.351G>T | p.R117= | Synonymous | 4/16 | - | 1 |
1-55058257-G-A | c.350G>A | p.R117Q | Missense | 4/16 | - | 2 |
1-55058258-G-A | c.351G>A | p.R117= | Synonymous | 4/16 | - | 2 |
1-55058259-G-A | c.352G>A | p.A118T | Missense | 4/16 | - | 1 |
1-55058259-G-C | c.352G>C | p.A118P | Missense | 4/16 | - | 1 |
1-55058260-C-T | c.353C>T | p.A118V | Missense | 4/16 | - | 1 |
1-55058264-C-T | c.357C>T | p.F119= | Synonymous | 4/16 | - | 1 |
1-55058266-A-G | c.359A>G | p.N120S | Missense | 4/16 | - | 1 |
1-55058269-C-G | c.362C>G | p.S121C | Missense | 4/16 | - | 1 |
1-55058271-A-G | c.364A>G | p.S122G | Missense | 4/16 | - | 1 |
1-55058277-G-C | c.370G>C | p.E124Q | Missense | 4/16 | - | 3 |
1-55058278-A-T | c.371A>T | p.E124V | Missense | 4/16 | - | 1 |
1-55059295-C-A | c.373-319C>A | - | IntronicSNV | - | 4/15 | 1 |
1-55059593-G-A | c.373-21G>A | - | IntronicSNV | - | 4/15 | 2 |
1-55059593-G-C | c.373-21G>C | - | IntronicSNV | - | 4/15 | 2 |
1-55059614-G-A | c.373G>A | p.V125M | Missense | 5/16 | - | 1 |
1-55059614-G-C | c.373G>C | p.V125L | Missense | 5/16 | - | 1 |
1-55059614-GGTGGGCA-G | c.373_379del | p.V125Sfs*32 | SpliceAcceptorDeletion | 5/16 | - | 1 |
1-55059614-G-T | c.373G>T | p.V125L | Missense | 5/16 | - | 2 |
1-55059616-G-C | c.375G>C | p.V125= | Synonymous | 5/16 | - | 1 |
1-55059620-A-T | c.379A>T | p.I127F | Missense | 5/16 | - | 1 |
1-55059624-A-G | c.383A>G | p.Q128R | Missense | 5/16 | - | 1 |
1-55059629-G-C | c.388G>C | p.A130P | Missense | 5/16 | - | 1 |
1-55059633-C-T | c.392C>T | p.S131L | Missense | 5/16 | - | 1 |
1-55059635-G-A | c.394G>A | p.E132K | Missense | 5/16 | - | 1 |
1-55059645-G-T | c.404G>T | p.C135F | Missense | 5/16 | - | 1 |
1-55059650-G-A | c.409G>A | p.E137K | Missense | 5/16 | - | 1 |
1-55059671-A-G | c.430A>G | p.K144E | Missense | 5/16 | - | 3 |
1-55059671-A-T | c.430A>T | p.K144* | Nonsense | 5/16 | - | 2 |
1-55059673-G-C | c.432G>C | p.K144N | Missense | 5/16 | - | 1 |
1-55059673-G-T | c.432G>T | p.K144N | Missense | 5/16 | - | 1 |
1-55059674-G-T | c.433G>T | p.A145S | Missense | 5/16 | - | 1 |
1-55059675-C-T | c.434C>T | p.A145V | Missense | 5/16 | - | 1 |
1-55059676-C-A | c.435C>A | p.A145= | Synonymous | 5/16 | - | 1 |
1-55059676-C-G | c.435C>G | p.A145= | Synonymous | 5/16 | - | 1 |
1-55059676-C-T | c.435C>T | p.A145= | Synonymous | 5/16 | - | 1 |
1-55059680-G-C | c.439G>C | p.A147P | Missense | 5/16 | - | 1 |
1-55059681-C-T | c.440C>T | p.A147V | Missense | 5/16 | - | 1 |
1-55059682-C-T | c.441C>T | p.A147= | Synonymous | 5/16 | - | 1 |
1-55059684-CC-TG | c.443_444delinsTG | p.T148M | Missense | 5/16 | - | 1 |
1-55059688-C-T | c.447C>T | p.F149= | Synonymous | 5/16 | - | 3 |
1-55059689-G-A | c.448G>A | p.V150M | Missense | 5/16 | - | 1 |
1-55059690-T-C | c.449T>C | p.V150A | Missense | 5/16 | - | 1 |
1-55059693-C-T | c.452C>T | p.A151V | Missense | 5/16 | - | 1 |
1-55059695-C-A | c.454C>A | p.R152S | Missense | 5/16 | - | 1 |
1-55059695-C-T | c.454C>T | p.R152C | Missense | 5/16 | - | 1 |
1-55059696-G-T | c.455G>T | p.R152L | Missense | 5/16 | - | 2 |
1-55059698-C-G | c.457C>G | p.R153G | Missense | 5/16 | - | 8 |
1-55059698-C-T | c.457C>T | p.R153* | Nonsense | 5/16 | - | 1 |
1-55059699-G-A | c.458G>A | p.R153Q | Missense | 5/16 | - | 4 |
1-55059699-GA-AT | c.458_459delinsAT | p.R153H | Missense | 5/16 | - | 1 |
1-55059699-G-C | c.458G>C | p.R153P | Missense | 5/16 | - | 1 |
1-55059704-A-C | c.463A>C | p.I155L | Missense | 5/16 | - | 1 |
1-55059708-CC-TG | c.467_468delinsTG | p.T156M | Missense | 5/16 | - | 1 |
1-55059710-A-C | c.469A>C | p.K157Q | Missense | 5/16 | - | 1 |
1-55059711-A-T | c.470A>T | p.K157M | Missense | 5/16 | - | 1 |
1-55059712-G-A | c.471G>A | p.K157= | Synonymous | 5/16 | - | 2 |
1-55059712-G-T | c.471G>T | p.K157N | Missense | 5/16 | - | 1 |
1-55059713-G-T | c.471+1G>T | - | IntronicSNV | - | 5/15 | 1 |
1-55059716-A-C | c.471+4A>C | - | IntronicSNV | - | 5/15 | 1 |
1-55059719-G-T | c.471+7G>T | - | IntronicSNV | - | 5/15 | 1 |
1-55059772-G-A | c.471+60G>A | - | IntronicSNV | - | 5/15 | 1 |
1-55060121-C-T | c.472-108C>T | - | IntronicSNV | - | 5/15 | 1 |
1-55060224-G-A | c.472-5G>A | - | IntronicSNV | - | 5/15 | 7 |
1-55060224-G-C | c.472-5G>C | - | IntronicSNV | - | 5/15 | 7 |
1-55060229-G-A | c.472G>A | p.V158M | Missense | 6/16 | - | 1 |
1-55060240-G-A | c.483G>A | p.K161= | Synonymous | 6/16 | - | 1 |
1-55060241-C-T | c.484C>T | p.Q162* | Nonsense | 6/16 | - | 1 |
1-55060251-C-G | c.494C>G | p.P165R | Missense | 6/16 | - | 1 |
1-55060251-C-T | c.494C>T | p.P165L | Missense | 6/16 | - | 13 |
1-55060252-G-A | c.495G>A | p.P165= | Synonymous | 6/16 | - | 1 |
1-55060253-CGG-TGT | c.496_498delinsTGT | p.R166C | Missense | 6/16 | - | 1 |
1-55060253-C-T | c.496C>T | p.R166W | Missense | 6/16 | - | 2 |
1-55060255-G-A | c.498G>A | p.R166= | Synonymous | 6/16 | - | 2 |
1-55060259-G-A | c.502G>A | p.E168K | Missense | 6/16 | - | 1 |
1-55060259-G-T | c.502G>T | p.E168* | Nonsense | 6/16 | - | 1 |
1-55060270-G-A | c.513G>A | p.K171= | Synonymous | 6/16 | - | 1 |
1-55060270-G-C | c.513G>C | p.K171N | Missense | 6/16 | - | 1 |
1-55060271-A-C | c.514A>C | p.M172L | Missense | 6/16 | - | 1 |
1-55060271-A-T | c.514A>T | p.M172L | Missense | 6/16 | - | 2 |
1-55060278-A-T | c.521A>T | p.H174L | Missense | 6/16 | - | 1 |
1-55060286-G-A | c.529G>A | p.A177T | Missense | 6/16 | - | 1 |
1-55060287-C-T | c.530C>T | p.A177V | Missense | 6/16 | - | 2 |
1-55060289-G-A | c.532G>A | p.A178T | Missense | 6/16 | - | 1 |
1-55060290-C-CT | c.534dup | p.E179* | Nonsense | 6/16 | - | 1 |
1-55060292-G-A | c.535G>A | p.E179K | Missense | 6/16 | - | 2 |
1-55060292-G-C | c.535G>C | p.E179Q | Missense | 6/16 | - | 1 |
1-55060293-A-G | c.536A>G | p.E179G | Missense | 6/16 | - | 1 |
1-55060296-G-A | c.539G>A | p.R180H | Missense | 6/16 | - | 4 |
1-55060296-GC-AA | c.539_540delinsAA | p.R180Q | Missense | 6/16 | - | 1 |
1-55060298-C-T | c.541C>T | p.R181W | Missense | 6/16 | - | 4 |
1-55060300-G-A | c.543G>A | p.R181= | Synonymous | 6/16 | - | 1 |
1-55060307-C-T | c.550C>T | p.R184C | Missense | 6/16 | - | 2 |
1-55060308-G-A | c.551G>A | p.R184H | Missense | 6/16 | - | 1 |
1-55060308-G-C | c.551G>C | p.R184P | Missense | 6/16 | - | 2 |
1-55060319-TG-T | c.562del | p.A188Qfs*77 | Frameshift | 6/16 | - | 1 |
1-55060321-A-C | c.564A>C | p.A188= | Synonymous | 6/16 | - | 1 |
1-55060321-A-G | c.564A>G | p.A188= | Synonymous | 6/16 | - | 1 |
1-55060321-A-T | c.564A>T | p.A188= | Synonymous | 6/16 | - | 1 |
1-55060325-A-G | c.568A>G | p.T190A | Missense | 6/16 | - | 1 |
1-55060326-C-T | c.569C>T | p.T190I | Missense | 6/16 | - | 1 |
1-55060337-C-G | c.580C>G | p.L194V | Missense | 6/16 | - | 1 |
1-55060339-C-T | c.582C>T | p.L194= | Synonymous | 6/16 | - | 1 |
1-55060343-G-A | c.586G>A | p.A196T | Missense | 6/16 | - | 1 |
1-55060346-A-T | c.589A>T | p.N197Y | Missense | 6/16 | - | 2 |
1-55060350-TG-T | c.593del | p.C198Sfs*67 | Frameshift | 6/16 | - | 1 |
1-55060351-C-T | c.594C>T | p.C198= | Synonymous | 6/16 | - | 1 |
1-55060353-C-G | c.596C>G | p.A199G | Missense | 6/16 | - | 1 |
1-55060355-A-G | c.598A>G | p.I200V | Missense | 6/16 | - | 1 |
1-55060355-A-T | c.598A>T | p.I200F | Missense | 6/16 | - | 1 |
1-55060358-C-T | c.601C>T | p.Q201* | Nonsense | 6/16 | - | 2 |
1-55060359-A-G | c.602A>G | p.Q201R | Missense | 6/16 | - | 3 |
1-55060362-G-A | c.605G>A | p.G202D | Missense | 6/16 | - | 28 |
1-55060363-C-A | c.606C>A | p.G202= | Synonymous | 6/16 | - | 1 |
1-55060363-C-G | c.606C>G | p.G202= | Synonymous | 6/16 | - | 1 |
1-55060363-C-T | c.606C>T | p.G202= | Synonymous | 6/16 | - | 1 |
1-55060364-G-A | c.607G>A | p.D203N | Missense | 6/16 | - | 1 |
1-55060548-C-T | c.607+184C>T | - | IntronicSNV | - | 6/15 | 1 |
1-55061035-G-A | c.607+671G>A | - | IntronicSNV | - | 6/15 | 1 |
1-55062904-T-G | c.608-28T>G | - | IntronicSNV | - | 6/15 | 1 |
1-55062937-G-A | c.613G>A | p.E205K | Missense | 7/16 | - | 3 |
1-55062944-G-C | c.620G>C | p.R207T | Missense | 7/16 | - | 1 |
1-55062949-T-C | c.625T>C | p.C209R | Missense | 7/16 | - | 2 |
1-55062956-G-A | c.632G>A | p.R211H | Missense | 7/16 | - | 1 |
1-55062960-G-A | c.636G>A | p.M212I | Missense | 7/16 | - | 8 |
1-55062960-G-C | c.636G>C | p.M212I | Missense | 7/16 | - | 3 |
1-55062960-G-T | c.636G>T | p.M212I | Missense | 7/16 | - | 8 |
1-55062964-C-T | c.640C>T | p.P214S | Missense | 7/16 | - | 1 |
1-55062965-C-T | c.641C>T | p.P214L | Missense | 7/16 | - | 1 |
1-55062967-G-T | c.643G>T | p.A215S | Missense | 7/16 | - | 1 |
1-55062970-G-A | c.646G>A | p.E216K | Missense | 7/16 | - | 1 |
1-55062970-G-C | c.646G>C | p.E216Q | Missense | 7/16 | - | 1 |
1-55062973-A-C | c.649A>C | p.K217Q | Missense | 7/16 | - | 1 |
1-55062979-C-T | c.655C>T | p.R219C | Missense | 7/16 | - | 2 |
1-55062980-G-A | c.656G>A | p.R219H | Missense | 7/16 | - | 2 |
1-55062982-G-A | c.658G>A | p.V220M | Missense | 7/16 | - | 1 |
1-55062985-G-T | c.661G>T | p.E221* | Nonsense | 7/16 | - | 1 |
1-55062987-G-A | c.663G>A | p.E221= | Synonymous | 7/16 | - | 2 |
1-55062996-G-A | c.672G>A | p.E224= | Synonymous | 7/16 | - | 2 |
1-55062997-CTG-TTT | c.673_675delinsTTT | p.L225F | Missense | 7/16 | - | 1 |
1-55062997-C-T | c.673C>T | p.L225= | Synonymous | 7/16 | - | 1 |
1-55062999-G-A | c.675G>A | p.L225= | Synonymous | 7/16 | - | 1 |
1-55062999-G-C | c.675G>C | p.L225= | Synonymous | 7/16 | - | 1 |
1-55062999-G-T | c.675G>T | p.L225= | Synonymous | 7/16 | - | 1 |
1-55063000-G-A | c.676G>A | p.V226I | Missense | 7/16 | - | 1 |
1-55063014-C-A | c.690C>A | p.H230Q | Missense | 7/16 | - | 1 |
1-55063014-C-G | c.690C>G | p.H230Q | Missense | 7/16 | - | 1 |
1-55063015-G-A | c.691G>A | p.A231T | Missense | 7/16 | - | 3 |
1-55063024-C-T | c.700C>T | p.Q234* | Nonsense | 7/16 | - | 1 |
1-55063029-C-A | c.705C>A | p.G235= | Synonymous | 7/16 | - | 1 |
1-55063029-C-G | c.705C>G | p.G235= | Synonymous | 7/16 | - | 1 |
1-55063029-C-T | c.705C>T | p.G235= | Synonymous | 7/16 | - | 1 |
1-55063033-A-C | c.709A>C | p.T237P | Missense | 7/16 | - | 1 |
1-55063034-C-T | c.710C>T | p.T237I | Missense | 7/16 | - | 1 |
1-55063050-C-A | c.726C>A | p.I242= | Synonymous | 7/16 | - | 1 |
1-55063050-C-T | c.726C>T | p.I242= | Synonymous | 7/16 | - | 1 |
1-55063053-G-A | c.729G>A | p.M243I | Missense | 7/16 | - | 2 |
1-55063063-G-A | c.739G>A | p.E247K | Missense | 7/16 | - | 3 |
1-55063069-G-A | c.745G>A | p.V249M | Missense | 7/16 | - | 1 |
1-55063070-T-G | c.746T>G | p.V249G | Missense | 7/16 | - | 3 |
1-55063072-G-A | c.748G>A | p.A250T | Missense | 7/16 | - | 1 |
1-55063082-C-A | c.758C>A | p.A253E | Missense | 7/16 | - | 1 |
1-55063084-G-A | c.760G>A | p.A254T | Missense | 7/16 | - | 3 |
1-55063088-G-T | c.764G>T | p.S255I | Missense | 7/16 | - | 1 |
1-55063089-G-A | c.764+1G>A | - | IntronicSNV | - | 7/15 | 2 |
1-55063116-TC-T | c.764+32del | - | IntronicDeletion | - | 7/15 | 1 |
1-55063130-C-G | c.764+42C>G | - | IntronicSNV | - | 7/15 | 5 |
1-55064897-A-AT | c.765-72_765-71insT | - | IntronicInsertion | - | 7/15 | 1 |
1-55064898-A-T | c.765-71A>T | - | IntronicSNV | - | 7/15 | 4 |
1-55064910-A-G | c.765-59A>G | - | IntronicSNV | - | 7/15 | 1 |
1-55064970-C-A | c.766C>A | p.R256= | Synonymous | 8/16 | - | 3 |
1-55064970-C-T | c.766C>T | p.R256W | Missense | 8/16 | - | 9 |
1-55064973-C-T | c.769C>T | p.L257F | Missense | 8/16 | - | 1 |
1-55064980-G-A | c.776G>A | p.R259H | Missense | 8/16 | - | 13 |
1-55064992-C-T | c.788C>T | p.T263M | Missense | 8/16 | - | 3 |
1-55064996-G-A | c.792G>A | p.L264= | Synonymous | 8/16 | - | 1 |
1-55064996-G-T | c.792G>T | p.L264= | Synonymous | 8/16 | - | 1 |
1-55065006-G-T | c.802G>T | p.E268* | Nonsense | 8/16 | - | 1 |
1-55065010-T-C | c.806T>C | p.M269T | Missense | 8/16 | - | 1 |
1-55065012-T-C | c.808T>C | p.F270L | Missense | 8/16 | - | 2 |
1-55065014-C-A | c.810C>A | p.F270L | Missense | 8/16 | - | 2 |
1-55065014-C-G | c.810C>G | p.F270L | Missense | 8/16 | - | 2 |
1-55065014-C-T | c.810C>T | p.F270= | Synonymous | 8/16 | - | 1 |
1-55065015-C-T | c.811C>T | p.H271Y | Missense | 8/16 | - | 1 |
1-55065017-C-T | c.813C>T | p.H271= | Synonymous | 8/16 | - | 1 |
1-55065025-GC-AG | c.821_822delinsAG | p.G274E | Missense | 8/16 | - | 1 |
1-55065029-G-A | c.825G>A | p.P275= | Synonymous | 8/16 | - | 1 |
1-55065035-G-A | c.831G>A | p.Q277= | Synonymous | 8/16 | - | 1 |
1-55065036-G-A | c.832G>A | p.V278I | Missense | 8/16 | - | 1 |
1-55065043-A-G | c.839A>G | p.D280G | Missense | 8/16 | - | 2 |
1-55065046-G-A | c.842G>A | p.R281H | Missense | 8/16 | - | 1 |
1-55065058-A-G | c.854A>G | p.K285R | Missense | 8/16 | - | 1 |
1-55065061-C-T | c.857C>T | p.A286V | Missense | 8/16 | - | 1 |
1-55065062-C-A | c.858C>A | p.A286= | Synonymous | 8/16 | - | 1 |
1-55065062-C-G | c.858C>G | p.A286= | Synonymous | 8/16 | - | 1 |
1-55065062-C-T | c.858C>T | p.A286= | Synonymous | 8/16 | - | 2 |
1-55065064-T-C | c.860T>C | p.I287T | Missense | 8/16 | - | 1 |
1-55065065-C-A | c.861C>A | p.I287= | Synonymous | 8/16 | - | 1 |
1-55065066-G-A | c.862G>A | p.V288M | Missense | 8/16 | - | 3 |
1-55065066-G-T | c.862G>T | p.V288L | Missense | 8/16 | - | 1 |
1-55065067-T-C | c.863T>C | p.V288A | Missense | 8/16 | - | 2 |
1-55065075-G-C | c.871G>C | p.A291P | Missense | 8/16 | - | 1 |
1-55065078-T-G | c.874T>G | p.F292V | Missense | 8/16 | - | 1 |
1-55065088-G-A | c.884G>A | p.S295N | Missense | 8/16 | - | 1 |
1-55065094-G-T | c.884+6G>T | - | IntronicSNV | - | 8/15 | 1 |
1-55065095-G-A | c.884+7G>A | - | IntronicSNV | - | 8/15 | 1 |
1-55065105-G-A | c.884+17G>A | - | IntronicSNV | - | 8/15 | 1 |
1-55065105-G-T | c.884+17G>T | - | IntronicSNV | - | 8/15 | 1 |
1-55066759-T-C | c.885-183T>C | - | IntronicSNV | - | 8/15 | 4 |
1-55066776-A-G | c.885-166A>G | - | IntronicSNV | - | 8/15 | 1 |
1-55066800-A-G | c.885-142A>G | - | IntronicSNV | - | 8/15 | 1 |
1-55066813-C-CA | c.885-129_885-128insA | - | IntronicInsertion | - | 8/15 | 3 |
1-55066813-C-CAT | c.885-129_885-128insAT | - | IntronicInsertion | - | 8/15 | 3 |
1-55066813-C-CATGT | c.885-129_885-128insATGT | - | IntronicInsertion | - | 8/15 | 3 |
1-55066814-G-GAT | c.885-128_885-127insAT | - | IntronicInsertion | - | 8/15 | 1 |
1-55066952-G-A | c.895G>A | p.G299S | Missense | 9/16 | - | 1 |
1-55066954-C-A | c.897C>A | p.G299= | Synonymous | 9/16 | - | 1 |
1-55066954-C-G | c.897C>G | p.G299= | Synonymous | 9/16 | - | 1 |
1-55066954-C-T | c.897C>T | p.G299= | Synonymous | 9/16 | - | 2 |
1-55066955-G-A | c.898G>A | p.V300M | Missense | 9/16 | - | 2 |
1-55066960-C-T | c.903C>T | p.C301= | Synonymous | 9/16 | - | 1 |
1-55066961-G-A | c.904G>A | p.V302M | Missense | 9/16 | - | 2 |
1-55066962-T-G | c.905T>G | p.V302G | Missense | 9/16 | - | 1 |
1-55066967-G-A | c.910G>A | p.A304T | Missense | 9/16 | - | 4 |
1-55066973-C-T | c.916C>T | p.R306C | Missense | 9/16 | - | 3 |
1-55066974-G-T | c.917G>T | p.R306L | Missense | 9/16 | - | 1 |
1-55066979-G-A | c.922G>A | p.E308K | Missense | 9/16 | - | 1 |
1-55066985-G-A | c.928G>A | p.E310K | Missense | 9/16 | - | 4 |
1-55066987-G-A | c.930G>A | p.E310= | Synonymous | 9/16 | - | 1 |
1-55066988-AC-TG | c.931_932delinsTG | p.T311C | Missense | 9/16 | - | 1 |
1-55066993-C-G | c.936C>G | p.H312Q | Missense | 9/16 | - | 1 |
1-55066994-C-A | c.937C>A | p.R313= | Synonymous | 9/16 | - | 1 |
1-55066994-CGG-TGT | c.937_939delinsTGT | p.R313C | Missense | 9/16 | - | 1 |
1-55066994-C-T | c.937C>T | p.R313W | Missense | 9/16 | - | 1 |
1-55066996-G-A | c.939G>A | p.R313= | Synonymous | 9/16 | - | 1 |
1-55066996-G-C | c.939G>C | p.R313= | Synonymous | 9/16 | - | 1 |
1-55066996-G-T | c.939G>T | p.R313= | Synonymous | 9/16 | - | 1 |
1-55066995-GG-AT | c.938_939delinsAT | p.R313H | Missense | 9/16 | - | 1 |
1-55066997-C-T | c.940C>T | p.R314C | Missense | 9/16 | - | 1 |
1-55066998-G-A | c.941G>A | p.R314H | Missense | 9/16 | - | 1 |
1-55067003-A-G | c.946A>G | p.I316V | Missense | 9/16 | - | 1 |
1-55067009-A-C | c.952A>C | p.S318R | Missense | 9/16 | - | 1 |
1-55067011-T-A | c.954T>A | p.S318R | Missense | 9/16 | - | 1 |
1-55067011-T-G | c.954T>G | p.S318R | Missense | 9/16 | - | 1 |
1-55067012-G-A | c.955G>A | p.A319T | Missense | 9/16 | - | 1 |
1-55067013-C-T | c.956C>T | p.A319V | Missense | 9/16 | - | 1 |
1-55067020-G-A | c.963G>A | p.M321I | Missense | 9/16 | - | 3 |
1-55067020-G-C | c.963G>C | p.M321I | Missense | 9/16 | - | 3 |
1-55067020-G-T | c.963G>T | p.M321I | Missense | 9/16 | - | 3 |
1-55067036-G-A | c.979G>A | p.D327N | Missense | 9/16 | - | 2 |
1-55067043-A-T | c.986A>T | p.D329V | Missense | 9/16 | - | 6 |
1-55067045-G-T | c.988G>T | p.D330Y | Missense | 9/16 | - | 3 |
1-55067051-C-T | c.994C>T | p.P332S | Missense | 9/16 | - | 2 |
1-55067056-G-C | c.999G>C | p.Q333H | Missense | 9/16 | - | 1 |
1-55067056-G-T | c.999G>T | p.Q333H | Missense | 9/16 | - | 1 |
1-55067060-C-A | c.1003C>A | p.L335M | Missense | 9/16 | - | 1 |
1-55067064-C-T | c.1007C>T | p.P336L | Missense | 9/16 | - | 1 |
1-55067069-A-G | c.1012A>G | p.I338V | Missense | 9/16 | - | 1 |
1-55067069-A-T | c.1012A>T | p.I338F | Missense | 9/16 | - | 1 |
1-55067072-C-T | c.1015C>T | p.R339W | Missense | 9/16 | - | 4 |
1-55067073-G-C | c.1016G>C | p.R339P | Missense | 9/16 | - | 3 |
1-55067074-G-A | c.1017G>A | p.R339= | Synonymous | 9/16 | - | 1 |
1-55067084-G-A | c.1027G>A | p.G343S | Missense | 9/16 | - | 1 |
1-55067084-G-T | c.1027G>T | p.G343C | Missense | 9/16 | - | 1 |
1-55067102-G-A | c.1029+16G>A | - | IntronicSNV | - | 9/15 | 1 |
1-55068228-G-A | c.1030-114G>A | - | IntronicSNV | - | 9/15 | 1 |
1-55068346-G-A | c.1034G>A | p.G345D | Missense | 10/16 | - | 1 |
1-55068351-C-T | c.1039C>T | p.R347W | Missense | 10/16 | - | 2 |
1-55068352-G-A | c.1040G>A | p.R347Q | Missense | 10/16 | - | 3 |
1-55068354-C-A | c.1042C>A | p.R348= | Synonymous | 10/16 | - | 1 |
1-55068354-C-T | c.1042C>T | p.R348W | Missense | 10/16 | - | 8 |
1-55068356-G-A | c.1044G>A | p.R348= | Synonymous | 10/16 | - | 1 |
1-55068356-G-C | c.1044G>C | p.R348= | Synonymous | 10/16 | - | 1 |
1-55068356-G-T | c.1044G>T | p.R348= | Synonymous | 10/16 | - | 1 |
1-55068355-G-A | c.1043G>A | p.R348Q | Missense | 10/16 | - | 1 |
1-55068360-C-T | c.1048C>T | p.R350* | Nonsense | 10/16 | - | 5 |
1-55068370-G-A | c.1058G>A | p.S353N | Missense | 10/16 | - | 1 |
1-55068388-G-A | c.1076G>A | p.R359H | Missense | 10/16 | - | 2 |
1-55068390-C-A | c.1078C>A | p.L360M | Missense | 10/16 | - | 1 |
1-55068390-C-T | c.1078C>T | p.L360= | Synonymous | 10/16 | - | 1 |
1-55068394-A-T | c.1082A>T | p.D361V | Missense | 10/16 | - | 1 |
1-55068396-A-G | c.1084A>G | p.R362G | Missense | 10/16 | - | 1 |
1-55068446-C-A | c.1085+49C>A | - | IntronicSNV | - | 10/15 | 1 |
1-55068453-C-A | c.1085+56C>A | - | IntronicSNV | - | 10/15 | 1 |
1-55069249-C-A | c.1086-295C>A | - | IntronicSNV | - | 10/15 | 1 |
1-55069547-G-C | c.1089G>C | p.K363N | Missense | 11/16 | - | 1 |
1-55069547-G-T | c.1089G>T | p.K363N | Missense | 11/16 | - | 1 |
1-55069551-A-T | c.1093A>T | p.I365F | Missense | 11/16 | - | 1 |
1-55069553-C-A | c.1095C>A | p.I365= | Synonymous | 11/16 | - | 1 |
1-55069553-C-T | c.1095C>T | p.I365= | Synonymous | 11/16 | - | 2 |
1-55069554-G-A | c.1096G>A | p.V366M | Missense | 11/16 | - | 1 |
1-55069559-C-A | c.1101C>A | p.S367= | Synonymous | 11/16 | - | 1 |
1-55069565-G-T | c.1107G>T | p.K369N | Missense | 11/16 | - | 1 |
1-55069568-G-C | c.1110G>C | p.Q370H | Missense | 11/16 | - | 1 |
1-55069572-G-C | c.1114G>C | p.E372Q | Missense | 11/16 | - | 1 |
1-55069578-C-T | c.1120C>T | p.P374S | Missense | 11/16 | - | 1 |
1-55069580-C-T | c.1122C>T | p.P374= | Synonymous | 11/16 | - | 1 |
1-55069583-C-A | c.1125C>A | p.L375= | Synonymous | 11/16 | - | 1 |
1-55069583-C-G | c.1125C>G | p.L375= | Synonymous | 11/16 | - | 1 |
1-55069583-C-T | c.1125C>T | p.L375= | Synonymous | 11/16 | - | 1 |
1-55069584-T-C | c.1126T>C | p.S376P | Missense | 11/16 | - | 1 |
1-55069585-C-T | c.1127C>T | p.S376F | Missense | 11/16 | - | 2 |
1-55069586-C-A | c.1128C>A | p.S376= | Synonymous | 11/16 | - | 2 |
1-55069586-C-G | c.1128C>G | p.S376= | Synonymous | 11/16 | - | 2 |
1-55069586-C-T | c.1128C>T | p.S376= | Synonymous | 11/16 | - | 3 |
1-55069587-G-GA | c.1129_1130insA | p.V377Dfs*6 | Frameshift | 11/16 | - | 1 |
1-55069587-G-T | c.1129G>T | p.V377F | Missense | 11/16 | - | 1 |
1-55069588-T-A | c.1130T>A | p.V377D | Missense | 11/16 | - | 1 |
1-55069588-T-C | c.1130T>C | p.V377A | Missense | 11/16 | - | 1 |
1-55069590-C-T | c.1132C>T | p.P378S | Missense | 11/16 | - | 1 |
1-55069598-C-G | c.1140C>G | p.D380E | Missense | 11/16 | - | 1 |
1-55069627-C-T | c.1152+17C>T | - | IntronicSNV | - | 11/15 | 1 |
1-55069651-C-T | c.1152+41C>T | - | IntronicSNV | - | 11/15 | 1 |
1-55069790-C-A | c.1152+180C>A | - | IntronicSNV | - | 11/15 | 3 |
1-55069986-T-C | c.1153-33T>C | - | IntronicSNV | - | 11/15 | 10 |
1-55070010-C-T | c.1153-9C>T | - | IntronicSNV | - | 11/15 | 1 |
1-55070023-A-G | c.1157A>G | p.Y386C | Missense | 12/16 | - | 1 |
1-55070031-T-C | c.1165T>C | p.Y389H | Missense | 12/16 | - | 1 |
1-55070044-C-T | c.1178C>T | p.S393F | Missense | 12/16 | - | 2 |
1-55070041-TCTC-T | c.1181_1183del | p.S394del | InFrameDeletion | 12/16 | - | 1 |
1-55070047-C-G | c.1181C>G | p.S394C | Missense | 12/16 | - | 1 |
1-55070049-T-C | c.1183T>C | p.L395= | Synonymous | 12/16 | - | 2 |
1-55070051-G-A | c.1185G>A | p.L395= | Synonymous | 12/16 | - | 3 |
1-55070053-A-C | c.1187A>C | p.K396T | Missense | 12/16 | - | 2 |
1-55070054-G-T | c.1188G>T | p.K396N | Missense | 12/16 | - | 1 |
1-55070055-A-G | c.1189A>G | p.M397V | Missense | 12/16 | - | 1 |
1-55070058-C-T | c.1192C>T | p.L398F | Missense | 12/16 | - | 1 |
1-55070061-G-C | c.1195G>C | p.V399L | Missense | 12/16 | - | 1 |
1-55070062-T-G | c.1196T>G | p.V399G | Missense | 12/16 | - | 1 |
1-55070065-C-T | c.1199C>T | p.A400V | Missense | 12/16 | - | 1 |
1-55070089-C-T | c.1223C>T | p.S408L | Missense | 12/16 | - | 6 |
1-55070093-G-T | c.1227G>T | p.E409D | Missense | 12/16 | - | 1 |
1-55070096-C-T | c.1230C>T | p.I410= | Synonymous | 12/16 | - | 1 |
1-55070098-G-T | c.1232G>T | p.S411I | Missense | 12/16 | - | 1 |
1-55070102-G-T | c.1236G>T | p.Q412H | Missense | 12/16 | - | 1 |
1-55070103-G-T | c.1236+1G>T | - | IntronicSNV | - | 12/15 | 1 |
1-55070524-C-T | c.1237-225C>T | - | IntronicSNV | - | 12/15 | 1 |
1-55070554-T-C | c.1237-195T>C | - | IntronicSNV | - | 12/15 | 1 |
1-55070695-C-T | c.1237-54C>T | - | IntronicSNV | - | 12/15 | 4 |
1-55070749-G-A | c.1237G>A | p.V413I | Missense | 13/16 | - | 1 |
1-55070752-C-T | c.1240C>T | p.R414C | Missense | 13/16 | - | 1 |
1-55070773-G-A | c.1261G>A | p.D421N | Missense | 13/16 | - | 1 |
1-55070786-C-T | c.1274C>T | p.S425F | Missense | 13/16 | - | 1 |
1-55070806-G-T | c.1294G>T | p.V432L | Missense | 13/16 | - | 1 |
1-55070811-T-A | c.1299T>A | p.H433Q | Missense | 13/16 | - | 1 |
1-55070811-T-G | c.1299T>G | p.H433Q | Missense | 13/16 | - | 2 |
1-55070815-G-A | c.1303G>A | p.D435N | Missense | 13/16 | - | 1 |
1-55070819-CA-AC | c.1307_1308delinsAC | p.A436D | Missense | 13/16 | - | 1 |
1-55070821-G-A | c.1309G>A | p.A437T | Missense | 13/16 | - | 1 |
1-55070823-C-T | c.1311C>T | p.A437= | Synonymous | 13/16 | - | 1 |
1-55070825-A-G | c.1313A>G | p.Q438R | Missense | 13/16 | - | 1 |
1-55070827-G-T | c.1315G>T | p.A439S | Missense | 13/16 | - | 1 |
1-55070830-T-G | c.1318T>G | p.F440V | Missense | 13/16 | - | 1 |
1-55070838-G-A | c.1326G>A | p.L442= | Synonymous | 13/16 | - | 1 |
1-55070840-T-C | c.1328T>C | p.L443P | Missense | 13/16 | - | 1 |
1-55070843-C-T | c.1331C>T | p.S444L | Missense | 13/16 | - | 2 |
1-55070844-G-A | c.1332G>A | p.S444= | Synonymous | 13/16 | - | 1 |
1-55070844-G-C | c.1332G>C | p.S444= | Synonymous | 13/16 | - | 1 |
1-55070844-G-T | c.1332G>T | p.S444= | Synonymous | 13/16 | - | 1 |
1-55070845-G-A | c.1333G>A | p.D445N | Missense | 13/16 | - | 3 |
1-55070852-G-A | c.1340G>A | p.R447H | Missense | 13/16 | - | 1 |
1-55070854-C-T | c.1342C>T | p.Q448* | Nonsense | 13/16 | - | 1 |
1-55070857-A-C | c.1345A>C | p.R449= | Synonymous | 13/16 | - | 1 |
1-55070859-G-A | c.1347G>A | p.R449= | Synonymous | 13/16 | - | 1 |
1-55070859-G-C | c.1347G>C | p.R449S | Missense | 13/16 | - | 2 |
1-55070859-G-T | c.1347G>T | p.R449S | Missense | 13/16 | - | 2 |
1-55070869-G-A | c.1357G>A | p.D453N | Missense | 13/16 | - | 1 |
1-55070870-A-T | c.1358A>T | p.D453V | Missense | 13/16 | - | 1 |
1-55070873-A-C | c.1361A>C | p.K454T | Missense | 13/16 | - | 1 |
1-55070874-G-C | c.1362G>C | p.K454N | Missense | 13/16 | - | 1 |
1-55071024-T-G | c.1370+142T>G | - | IntronicSNV | - | 13/15 | 2 |
1-55072726-T-C | c.1371-81T>C | - | IntronicSNV | - | 13/15 | 5 |
1-55072810-C-T | c.1374C>T | p.S458= | Synonymous | 14/16 | - | 2 |
1-55072811-G-A | c.1375G>A | p.V459M | Missense | 14/16 | - | 2 |
1-55072826-C-A | c.1390C>A | p.Q464K | Missense | 14/16 | - | 1 |
1-55072826-C-T | c.1390C>T | p.Q464* | Nonsense | 14/16 | - | 1 |
1-55072835-G-A | c.1399G>A | p.E467K | Missense | 14/16 | - | 2 |
1-55072840-C-T | c.1404C>T | p.D468= | Synonymous | 14/16 | - | 1 |
1-55072841-G-A | c.1405G>A | p.D469N | Missense | 14/16 | - | 1 |
1-55072843-C-T | c.1407C>T | p.D469= | Synonymous | 14/16 | - | 2 |
1-55072844-G-A | c.1408G>A | p.A470T | Missense | 14/16 | - | 1 |
1-55072847-A-C | c.1411A>C | p.I471L | Missense | 14/16 | - | 1 |
1-55072847-A-G | c.1411A>G | p.I471V | Missense | 14/16 | - | 1 |
1-55072849-C-A | c.1413C>A | p.I471= | Synonymous | 14/16 | - | 1 |
1-55072849-C-T | c.1413C>T | p.I471= | Synonymous | 14/16 | - | 1 |
1-55072851-A-T | c.1415A>T | p.Y472F | Missense | 14/16 | - | 1 |
1-55072852-C-T | c.1416C>T | p.Y472= | Synonymous | 14/16 | - | 1 |
1-55072856-G-A | c.1420G>A | p.V474I | Missense | 14/16 | - | 3 |
1-55072892-C-T | c.1456C>T | p.Q486* | Nonsense | 14/16 | - | 2 |
1-55072900-C-G | c.1464C>G | p.F488L | Missense | 14/16 | - | 1 |
1-55072900-C-T | c.1464C>T | p.F488= | Synonymous | 14/16 | - | 3 |
1-55072901-G-A | c.1465G>A | p.V489M | Missense | 14/16 | - | 1 |
1-55072901-G-C | c.1465G>C | p.V489L | Missense | 14/16 | - | 1 |
1-55072901-G-T | c.1465G>T | p.V489L | Missense | 14/16 | - | 1 |
1-55072910-G-A | c.1474G>A | p.A492T | Missense | 14/16 | - | 1 |
1-55072911-C-T | c.1475C>T | p.A492V | Missense | 14/16 | - | 1 |
1-55072914-C-T | c.1478C>T | p.S493L | Missense | 14/16 | - | 2 |
1-55072915-G-A | c.1479G>A | p.S493= | Synonymous | 14/16 | - | 1 |
1-55072917-G-A | c.1481G>A | p.R494K | Missense | 14/16 | - | 1 |
1-55072919-C-A | c.1483C>A | p.R495= | Synonymous | 14/16 | - | 1 |
1-55072919-C-T | c.1483C>T | p.R495W | Missense | 14/16 | - | 1 |
1-55072931-G-A | c.1495G>A | p.D499N | Missense | 14/16 | - | 2 |
1-55072934-A-G | c.1498A>G | p.N500D | Missense | 14/16 | - | 1 |
1-55072958-G-T | c.1502+20G>T | - | IntronicSNV | - | 14/15 | 1 |
1-55073001-C-T | c.1502+63C>T | - | IntronicSNV | - | 14/15 | 1 |
1-55073396-G-A | c.1503-219G>A | - | IntronicSNV | - | 14/15 | 1 |
1-55073414-C-T | c.1503-201C>T | - | IntronicSNV | - | 14/15 | 1 |
1-55073615-G-A | c.1503G>A | p.G501= | Synonymous | 15/16 | - | 1 |
1-55073615-G-C | c.1503G>C | p.G501= | Synonymous | 15/16 | - | 1 |
1-55073615-G-T | c.1503G>T | p.G501= | Synonymous | 15/16 | - | 1 |
1-55073618-C-A | c.1506C>A | p.D502E | Missense | 15/16 | - | 1 |
1-55073618-C-T | c.1506C>T | p.D502= | Synonymous | 15/16 | - | 1 |
1-55073620-C-T | c.1508C>T | p.P503L | Missense | 15/16 | - | 1 |
1-55073623-A-G | c.1511A>G | p.Y504C | Missense | 15/16 | - | 2 |
1-55073629-T-C | c.1517T>C | p.I506T | Missense | 15/16 | - | 1 |
1-55073631-G-A | c.1519G>A | p.A507T | Missense | 15/16 | - | 1 |
1-55073631-G-C | c.1519G>C | p.A507P | Missense | 15/16 | - | 1 |
1-55073632-C-A | c.1520C>A | p.A507E | Missense | 15/16 | - | 1 |
1-55073632-C-T | c.1520C>T | p.A507V | Missense | 15/16 | - | 1 |
1-55073633-G-A | c.1521G>A | p.A507= | Synonymous | 15/16 | - | 2 |
1-55073641-C-T | c.1529C>T | p.S510L | Missense | 15/16 | - | 2 |
1-55073644-T-C | c.1532T>C | p.V511A | Missense | 15/16 | - | 2 |
1-55073645-C-A | c.1533C>A | p.V511= | Synonymous | 15/16 | - | 1 |
1-55073645-C-G | c.1533C>G | p.V511= | Synonymous | 15/16 | - | 1 |
1-55073645-C-T | c.1533C>T | p.V511= | Synonymous | 15/16 | - | 1 |
1-55073647-C-T | c.1535C>T | p.T512M | Missense | 15/16 | - | 2 |
1-55073648-G-A | c.1536G>A | p.T512= | Synonymous | 15/16 | - | 2 |
1-55073652-C-T | c.1540C>T | p.P514S | Missense | 15/16 | - | 1 |
1-55073655-A-G | c.1543A>G | p.T515A | Missense | 15/16 | - | 1 |
1-55073661-C-T | c.1549C>T | p.R517* | Nonsense | 15/16 | - | 2 |
1-55073662-G-A | c.1550G>A | p.R517Q | Missense | 15/16 | - | 2 |
1-55073668-C-T | c.1556C>T | p.T519M | Missense | 15/16 | - | 2 |
1-55073682-C-T | c.1570C>T | p.R524C | Missense | 15/16 | - | 2 |
1-55073683-G-T | c.1571G>T | p.R524L | Missense | 15/16 | - | 1 |
1-55073685-G-A | c.1573G>A | p.G525R | Missense | 15/16 | - | 2 |
1-55073685-G-C | c.1573G>C | p.G525R | Missense | 15/16 | - | 2 |
1-55073691-A-G | c.1579A>G | p.T527A | Missense | 15/16 | - | 1 |
1-55073695-T-A | c.1583T>A | p.L528H | Missense | 15/16 | - | 1 |
1-55073697-T-C | c.1585T>C | p.C529R | Missense | 15/16 | - | 1 |
1-55073699-C-T | c.1587C>T | p.C529= | Synonymous | 15/16 | - | 1 |
1-55073701-C-T | c.1589C>T | p.S530L | Missense | 15/16 | - | 1 |
1-55073709-TG-AC | c.1597_1598delinsAC | p.C533T | Missense | 15/16 | - | 1 |
1-55073711-C-T | c.1599C>T | p.C533= | Synonymous | 15/16 | - | 1 |
1-55073712-C-T | c.1600C>T | p.L534F | Missense | 15/16 | - | 1 |
1-55073714-C-A | c.1602C>A | p.L534= | Synonymous | 15/16 | - | 1 |
1-55073714-C-G | c.1602C>G | p.L534= | Synonymous | 15/16 | - | 1 |
1-55073714-C-T | c.1602C>T | p.L534= | Synonymous | 15/16 | - | 1 |
1-55073719-G-A | c.1607G>A | p.R536H | Missense | 15/16 | - | 6 |
1-55073719-G-T | c.1607G>T | p.R536L | Missense | 15/16 | - | 3 |
1-55073720-C-A | c.1608C>A | p.R536= | Synonymous | 15/16 | - | 1 |
1-55073720-C-G | c.1608C>G | p.R536= | Synonymous | 15/16 | - | 1 |
1-55073720-C-T | c.1608C>T | p.R536= | Synonymous | 15/16 | - | 2 |
1-55073721-G-A | c.1609G>A | p.E537K | Missense | 15/16 | - | 4 |
1-55073726-G-GT | c.1614_1615insT | p.D539* | Nonsense | 15/16 | - | 1 |
1-55073731-A-G | c.1619A>G | p.Q540R | Missense | 15/16 | - | 1 |
1-55073731-A-T | c.1619A>T | p.Q540L | Missense | 15/16 | - | 1 |
1-55073732-G-GC | c.1621dup | p.L541Pfs*28 | Frameshift | 15/16 | - | 1 |
1-55073733-C-A | c.1621C>A | p.L541M | Missense | 15/16 | - | 1 |
1-55073739-A-T | c.1627A>T | p.K543* | Nonsense | 15/16 | - | 1 |
1-55073740-A-T | c.1628A>T | p.K543M | Missense | 15/16 | - | 1 |
1-55073742-G-A | c.1629+1G>A | - | IntronicSNV | - | 15/15 | 1 |
1-55074419-T-A | c.1630-211T>A | - | IntronicSNV | - | 15/15 | 1 |
1-55074419-T-C | c.1630-211T>C | - | IntronicSNV | - | 15/15 | 1 |
1-55074463-T-A | c.1630-167T>A | - | IntronicSNV | - | 15/15 | 1 |
1-55074463-T-C | c.1630-167T>C | - | IntronicSNV | - | 15/15 | 1 |
1-55074597-T-C | c.1630-33T>C | - | IntronicSNV | - | 15/15 | 6 |
1-55074630-G-A | c.1630G>A | p.V544I | Missense | 16/16 | - | 1 |
1-55074633-T-C | c.1633T>C | p.S545P | Missense | 16/16 | - | 1 |
1-55074634-C-T | c.1634C>T | p.S545F | Missense | 16/16 | - | 1 |
1-55074640-A-G | c.1640A>G | p.Y547C | Missense | 16/16 | - | 1 |
1-55074641-C-A | c.1641C>A | p.Y547* | Nonsense | 16/16 | - | 1 |
1-55074641-C-G | c.1641C>G | p.Y547* | Nonsense | 16/16 | - | 1 |
1-55074645-C-A | c.1645C>A | p.Q549K | Missense | 16/16 | - | 1 |
1-55074645-C-T | c.1645C>T | p.Q549* | Nonsense | 16/16 | - | 2 |
1-55074647-G-A | c.1647G>A | p.Q549= | Synonymous | 16/16 | - | 2 |
1-55074658-G-C | c.1658G>C | p.G553A | Missense | 16/16 | - | 1 |
1-55074661-T-C | c.1661T>C | p.V554A | Missense | 16/16 | - | 1 |
1-55074665-C-T | c.1665C>T | p.L555= | Synonymous | 16/16 | - | 1 |
1-55074678-A-T | c.1678A>T | p.T560S | Missense | 16/16 | - | 1 |
1-55074679-C-G | c.1679C>G | p.T560S | Missense | 16/16 | - | 1 |
1-55074683-C-A | c.1683C>A | p.N561K | Missense | 16/16 | - | 3 |
1-55074683-C-G | c.1683C>G | p.N561K | Missense | 16/16 | - | 1 |
1-55074683-C-T | c.1683C>T | p.N561= | Synonymous | 16/16 | - | 3 |
1-55074689-C-T | c.1689C>T | p.A563= | Synonymous | 16/16 | - | 1 |
1-55074690-G-A | c.1690G>A | p.G564S | Missense | 16/16 | - | 1 |
1-55074746-C-T | c.1746C>T | p.D582= | Synonymous | 16/16 | - | 1 |
1-55074749-C-A | c.1749C>A | p.N583K | Missense | 16/16 | - | 1 |
1-55074749-C-G | c.1749C>G | p.N583K | Missense | 16/16 | - | 1 |
1-55074750-C-T | c.1750C>T | p.R584W | Missense | 16/16 | - | 1 |
1-55074759-C-G | c.1759C>G | p.L587V | Missense | 16/16 | - | 1 |
1-55074762-G-A | c.1762G>A | p.A588T | Missense | 16/16 | - | 1 |
1-55074766-C-A | c.1766C>A | p.P589H | Missense | 16/16 | - | 1 |
1-55074766-C-T | c.1766C>T | p.P589L | Missense | 16/16 | - | 1 |
1-55074770-C-A | c.1770C>A | p.S590R | UnclassifiedSNV | 16/16 | - | 1 |
1-55074778-C-T | c.1778C>T | p.T593I | Missense | 16/16 | - | 3 |
1-55074840-T-A | c.*55T>A | - | 3-UTRSNV | 16/16 | - | 10 |
1-55074840-T-G | c.*55T>G | - | 3-UTRSNV | 16/16 | - | 8 |
1-55074922-G-A | c.*137G>A | - | 3-UTRSNV | 16/16 | - | 6 |
1-55074922-G-C | c.*137G>C | - | 3-UTRSNV | 16/16 | - | 4 |
1-55075062-C-T | c.*277C>T | - | 3-UTRSNV | 16/16 | - | 12 |
1-55075065-C-A | c.*280C>A | - | 3-UTRSNV | 16/16 | - | 1 |
1-55075099-G-A | c.*314G>A | - | 3-UTRSNV | 16/16 | - | 1 |
1-55075099-G-T | c.*314G>T | - | 3-UTRSNV | 16/16 | - | 1 |
1-55075122-C-G | c.*337C>G | - | 3-UTRSNV | 16/16 | - | 19 |
1-55075176-A-G | c.*391A>G | - | 3-UTRSNV | 16/16 | - | 1 |
1-55075452-G-A | c.*667G>A | - | 3-UTRSNV | 16/16 | - | 28 |
1-55075452-G-C | c.*667G>C | - | 3-UTRSNV | 16/16 | - | 9 |
1-55075518-G-A | c.*733G>A | - | 3-UTRSNV | 16/16 | - | 2 |
1-55075993-G-A | c.*1208G>A | - | 3-UTRSNV | 16/16 | - | 8 |
1-55075993-G-C | c.*1208G>C | - | 3-UTRSNV | 16/16 | - | 7 |