| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 21-45527291-G-A | c.-7G>A | - | 5-UTRSNV | 1/21 | - | 7 |
| 21-45527300-G-A | c.3G>A | p.M1? | Missense | 1/21 | - | 2 |
| 21-45527308-C-T | c.11C>T | p.A4V | Missense | 1/21 | - | 1 |
| 21-45527460-G-A | c.18+145G>A | - | IntronicSNV | - | 1/20 | 2 |
| 21-45527914-C-A | c.18+599C>A | - | IntronicSNV | - | 1/20 | 1 |
| 21-45528804-T-G | c.19-61T>G | - | IntronicSNV | - | 1/20 | 1 |
| 21-45528869-C-T | c.23C>T | p.S8L | Missense | 2/21 | - | 4 |
| 21-45528880-G-A | c.34G>A | p.G12S | Missense | 2/21 | - | 1 |
| 21-45528881-G-A | c.35G>A | p.G12D | Missense | 2/21 | - | 1 |
| 21-45528884-C-T | c.38C>T | p.T13M | Missense | 2/21 | - | 2 |
| 21-45528885-G-A | c.39G>A | p.T13= | Synonymous | 2/21 | - | 2 |
| 21-45528885-G-C | c.39G>C | p.T13= | Synonymous | 2/21 | - | 2 |
| 21-45528885-G-T | c.39G>T | p.T13= | Synonymous | 2/21 | - | 2 |
| 21-45528886-G-A | c.40G>A | p.V14M | Missense | 2/21 | - | 1 |
| 21-45528892-C-T | c.46C>T | p.R16W | Missense | 2/21 | - | 2 |
| 21-45528893-G-A | c.47G>A | p.R16Q | Missense | 2/21 | - | 2 |
| 21-45528895-CGT-AAG | c.49_51delinsAAG | p.R17K | Missense | 2/21 | - | 1 |
| 21-45528895-C-T | c.49C>T | p.R17C | Missense | 2/21 | - | 1 |
| 21-45528896-G-A | c.50G>A | p.R17H | Missense | 2/21 | - | 1 |
| 21-45528896-G-C | c.50G>C | p.R17P | Missense | 2/21 | - | 1 |
| 21-45528902-A-G | c.56A>G | p.N19S | Missense | 2/21 | - | 1 |
| 21-45528904-C-A | c.58C>A | p.L20I | Missense | 2/21 | - | 1 |
| 21-45528907-A-G | c.61A>G | p.N21D | Missense | 2/21 | - | 1 |
| 21-45528914-C-T | c.68C>T | p.T23I | Missense | 2/21 | - | 1 |
| 21-45528917-G-A | c.71G>A | p.C24Y | Missense | 2/21 | - | 1 |
| 21-45528919-G-A | c.73G>A | p.D25N | Missense | 2/21 | - | 37 |
| 21-45528922-GGA-AGC | c.76_78delinsAGC | p.G26S | Missense | 2/21 | - | 1 |
| 21-45528925-A-G | c.79A>G | p.N27D | Missense | 2/21 | - | 1 |
| 21-45528930-A-C | c.84A>C | p.S28= | Synonymous | 2/21 | - | 1 |
| 21-45528930-A-G | c.84A>G | p.S28= | Synonymous | 2/21 | - | 1 |
| 21-45528930-A-T | c.84A>T | p.S28= | Synonymous | 2/21 | - | 1 |
| 21-45528936-C-G | c.90C>G | p.I30M | Missense | 2/21 | - | 1 |
| 21-45528937-AG-TT | c.91_92delinsTT | p.S31F | Missense | 2/21 | - | 1 |
| 21-45528941-C-T | c.95C>T | p.P32L | Missense | 2/21 | - | 2 |
| 21-45528943-G-A | c.97G>A | p.V33M | Missense | 2/21 | - | 5 |
| 21-45528943-G-T | c.97G>T | p.V33L | Missense | 2/21 | - | 1 |
| 21-45528946-G-A | c.100G>A | p.G34S | Missense | 2/21 | - | 4 |
| 21-45528947-G-A | c.101G>A | p.G34D | Missense | 2/21 | - | 1 |
| 21-45528947-G-C | c.101G>C | p.G34A | Missense | 2/21 | - | 1 |
| 21-45528947-G-T | c.101G>T | p.G34V | Missense | 2/21 | - | 1 |
| 21-45528953-G-C | c.107G>C | p.R36T | Missense | 2/21 | - | 1 |
| 21-45528957-C-T | c.111C>T | p.V37= | Synonymous | 2/21 | - | 1 |
| 21-45528959-C-T | c.113C>T | p.T38I | Missense | 2/21 | - | 1 |
| 21-45528967-G-A | c.121G>A | p.D41N | Missense | 2/21 | - | 1 |
| 21-45528967-G-T | c.121G>T | p.D41Y | Missense | 2/21 | - | 1 |
| 21-45528974-A-C | c.128A>C | p.K43T | Missense | 2/21 | - | 1 |
| 21-45528977-A-C | c.131A>C | p.N44T | Missense | 2/21 | - | 1 |
| 21-45529115-C-G | c.131+138C>G | - | IntronicSNV | - | 2/20 | 3 |
| 21-45529393-G-T | c.131+416G>T | - | IntronicSNV | - | 2/20 | 1 |
| 21-45533634-C-T | c.132C>T | p.N44= | Synonymous | 3/21 | - | 1 |
| 21-45533648-C-T | c.146C>T | p.T49M | Missense | 3/21 | - | 2 |
| 21-45533649-G-A | c.147G>A | p.T49= | Synonymous | 3/21 | - | 1 |
| 21-45533653-C-T | c.151C>T | p.P51S | Missense | 3/21 | - | 3 |
| 21-45533655-C-A | c.153C>A | p.P51= | Synonymous | 3/21 | - | 2 |
| 21-45533655-C-G | c.153C>G | p.P51= | Synonymous | 3/21 | - | 2 |
| 21-45533655-C-T | c.153C>T | p.P51= | Synonymous | 3/21 | - | 2 |
| 21-45533659-GC-AT | c.157_158delinsAT | p.A53I | Missense | 3/21 | - | 1 |
| 21-45533661-C-A | c.159C>A | p.A53= | Synonymous | 3/21 | - | 1 |
| 21-45533663-C-G | c.161C>G | p.T54S | Missense | 3/21 | - | 1 |
| 21-45533664-T-C | c.162T>C | p.T54= | Synonymous | 3/21 | - | 1 |
| 21-45533665-C-T | c.163C>T | p.R55W | Missense | 3/21 | - | 1 |
| 21-45533666-G-A | c.164G>A | p.R55Q | Missense | 3/21 | - | 1 |
| 21-45533672-A-G | c.170A>G | p.N57S | Missense | 3/21 | - | 1 |
| 21-45533674-GTC-ATG | c.172_174delinsATG | p.V58M | Missense | 3/21 | - | 1 |
| 21-45533682-C-T | c.180C>T | p.C60= | Synonymous | 3/21 | - | 2 |
| 21-45533689-C-A | c.187C>A | p.L63M | Missense | 3/21 | - | 1 |
| 21-45533695-C-T | c.193C>T | p.P65S | Missense | 3/21 | - | 1 |
| 21-45533696-CG-AT | c.194_195delinsAT | p.P65H | Missense | 3/21 | - | 1 |
| 21-45533702-G-T | c.200G>T | p.G67V | Missense | 3/21 | - | 1 |
| 21-45533703-C-T | c.201C>T | p.G67= | Synonymous | 3/21 | - | 1 |
| 21-45533704-C-A | c.202C>A | p.R68S | Missense | 3/21 | - | 1 |
| 21-45533704-C-T | c.202C>T | p.R68C | Missense | 3/21 | - | 2 |
| 21-45533706-C-T | c.204C>T | p.R68= | Synonymous | 3/21 | - | 1 |
| 21-45533709-C-A | c.207C>A | p.L69= | Synonymous | 3/21 | - | 1 |
| 21-45533709-C-G | c.207C>G | p.L69= | Synonymous | 3/21 | - | 1 |
| 21-45533709-C-T | c.207C>T | p.L69= | Synonymous | 3/21 | - | 1 |
| 21-45533714-T-C | c.212T>C | p.I71T | Missense | 3/21 | - | 1 |
| 21-45533725-G-C | c.223G>C | p.E75Q | Missense | 3/21 | - | 1 |
| 21-45533726-A-G | c.224A>G | p.E75G | Missense | 3/21 | - | 1 |
| 21-45533728-G-T | c.226G>T | p.G76W | Missense | 3/21 | - | 1 |
| 21-45533984-C-G | c.227-76C>G | - | IntronicSNV | - | 3/20 | 1 |
| 21-45534032-C-T | c.227-28C>T | - | IntronicSNV | - | 3/20 | 5 |
| 21-45534060-GG-AC | c.227_228delinsAC | p.G76D | Missense | 4/21 | - | 1 |
| 21-45534065-G-A | c.232G>A | p.D78N | Missense | 4/21 | - | 1 |
| 21-45534069-C-T | c.236C>T | p.A79V | Missense | 4/21 | - | 1 |
| 21-45534070-G-A | c.237G>A | p.A79= | Synonymous | 4/21 | - | 1 |
| 21-45534070-G-C | c.237G>C | p.A79= | Synonymous | 4/21 | - | 1 |
| 21-45534070-G-T | c.237G>T | p.A79= | Synonymous | 4/21 | - | 1 |
| 21-45534077-G-C | c.244G>C | p.V82L | Missense | 4/21 | - | 1 |
| 21-45534080-AG-TT | c.247_248delinsTT | p.S83F | Missense | 4/21 | - | 1 |
| 21-45534084-T-C | c.251T>C | p.L84P | Missense | 4/21 | - | 1 |
| 21-45534086-G-A | c.253G>A | p.V85I | Missense | 4/21 | - | 5 |
| 21-45534086-GTC-ATG | c.253_255delinsATG | p.V85M | Missense | 4/21 | - | 1 |
| 21-45534089-TG-AC | c.256_257delinsAC | p.C86T | Missense | 4/21 | - | 1 |
| 21-45534095-TC-CT | c.262_263delinsCT | p.S88L | Missense | 4/21 | - | 1 |
| 21-45534098-G-A | c.265G>A | p.V89M | Missense | 4/21 | - | 1 |
| 21-45534101-C-T | c.268C>T | p.L90= | Synonymous | 4/21 | - | 1 |
| 21-45534103-G-A | c.270G>A | p.L90= | Synonymous | 4/21 | - | 1 |
| 21-45534103-G-C | c.270G>C | p.L90= | Synonymous | 4/21 | - | 1 |
| 21-45534103-G-T | c.270G>T | p.L90= | Synonymous | 4/21 | - | 1 |
| 21-45534112-C-A | c.279C>A | p.F93L | Missense | 4/21 | - | 1 |
| 21-45534112-C-T | c.279C>T | p.F93= | Synonymous | 4/21 | - | 3 |
| 21-45534115-C-T | c.282C>T | p.H94= | Synonymous | 4/21 | - | 3 |
| 21-45534126-C-A | c.293C>A | p.S98Y | Missense | 4/21 | - | 1 |
| 21-45534128-G-A | c.295G>A | p.V99M | Missense | 4/21 | - | 1 |
| 21-45534132-A-G | c.299A>G | p.H100R | Missense | 4/21 | - | 1 |
| 21-45534135-G-C | c.302G>C | p.S101T | Missense | 4/21 | - | 1 |
| 21-45534141-C-T | c.308C>T | p.S103F | Missense | 4/21 | - | 2 |
| 21-45534145-C-T | c.312C>T | p.F104= | Synonymous | 4/21 | - | 2 |
| 21-45534148-C-A | c.315C>A | p.S105= | Synonymous | 4/21 | - | 1 |
| 21-45534148-C-G | c.315C>G | p.S105= | Synonymous | 4/21 | - | 1 |
| 21-45534148-C-T | c.315C>T | p.S105= | Synonymous | 4/21 | - | 1 |
| 21-45534150-C-T | c.317C>T | p.P106L | Missense | 4/21 | - | 1 |
| 21-45534152-G-A | c.319G>A | p.D107N | Missense | 4/21 | - | 1 |
| 21-45534157-C-T | c.324C>T | p.G108= | Synonymous | 4/21 | - | 1 |
| 21-45534158-A-T | c.325A>T | p.R109W | Missense | 4/21 | - | 1 |
| 21-45534241-C-T | c.326+82C>T | - | IntronicSNV | - | 4/20 | 1 |
| 21-45534466-C-T | c.327-40C>T | - | IntronicSNV | - | 4/20 | 1 |
| 21-45534158-A-C | c.325A>C | p.R109= | Synonymous | 4/21 | - | 1 |
| 21-45534506-G-A | c.327G>A | p.R109= | Synonymous | 5/21 | - | 1 |
| 21-45534511-TTG-T | c.334_335del | p.V112Cfs*5 | Frameshift | 5/21 | - | 1 |
| 21-45534513-G-A | c.334G>A | p.V112I | Missense | 5/21 | - | 2 |
| 21-45534518-C-T | c.339C>T | p.V113= | Synonymous | 5/21 | - | 1 |
| 21-45534531-A-G | c.352A>G | p.I118V | Missense | 5/21 | - | 1 |
| 21-45534536-C-A | c.357C>A | p.A119= | Synonymous | 5/21 | - | 1 |
| 21-45534536-C-G | c.357C>G | p.A119= | Synonymous | 5/21 | - | 1 |
| 21-45534536-C-T | c.357C>T | p.A119= | Synonymous | 5/21 | - | 1 |
| 21-45534547-A-G | c.368A>G | p.H123R | Missense | 5/21 | - | 1 |
| 21-45534550-C-T | c.371C>T | p.A124V | Missense | 5/21 | - | 2 |
| 21-45534551-C-A | c.372C>A | p.A124= | Synonymous | 5/21 | - | 1 |
| 21-45534553-C-G | c.374C>G | p.P125R | Missense | 5/21 | - | 1 |
| 21-45534556-G-A | c.377G>A | p.G126E | Missense | 5/21 | - | 1 |
| 21-45534557-G-A | c.378G>A | p.G126= | Synonymous | 5/21 | - | 1 |
| 21-45534559-A-G | c.380A>G | p.K127R | Missense | 5/21 | - | 1 |
| 21-45534562-A-C | c.383A>C | p.K128T | Missense | 5/21 | - | 1 |
| 21-45534564-C-A | c.385C>A | p.R129= | Synonymous | 5/21 | - | 1 |
| 21-45534564-CG-AA | c.385_386delinsAA | p.R129K | Missense | 5/21 | - | 1 |
| 21-45534566-G-A | c.387G>A | p.R129= | Synonymous | 5/21 | - | 1 |
| 21-45534566-G-C | c.387G>C | p.R129= | Synonymous | 5/21 | - | 1 |
| 21-45534566-G-T | c.387G>T | p.R129= | Synonymous | 5/21 | - | 1 |
| 21-45534565-G-T | c.386G>T | p.R129L | Missense | 5/21 | - | 1 |
| 21-45534570-T-C | c.391T>C | p.F131L | Missense | 5/21 | - | 1 |
| 21-45534572-C-A | c.393C>A | p.F131L | Missense | 5/21 | - | 1 |
| 21-45534572-C-G | c.393C>G | p.F131L | Missense | 5/21 | - | 1 |
| 21-45534574-A-G | c.395A>G | p.N132S | Missense | 5/21 | - | 1 |
| 21-45534576-G-A | c.397G>A | p.A133T | Missense | 5/21 | - | 2 |
| 21-45534579-T-A | c.400T>A | p.F134I | Missense | 5/21 | - | 1 |
| 21-45534604-G-C | c.425G>C | p.G142A | Missense | 5/21 | - | 1 |
| 21-45534607-C-T | c.428C>T | p.P143L | Missense | 5/21 | - | 1 |
| 21-45534611-C-A | c.432C>A | p.Y144* | Nonsense | 5/21 | - | 1 |
| 21-45534614-T-A | c.435T>A | p.D145E | Missense | 5/21 | - | 1 |
| 21-45534614-T-G | c.435T>G | p.D145E | Missense | 5/21 | - | 1 |
| 21-45534630-G-A | c.451G>A | p.D151N | Missense | 5/21 | - | 1 |
| 21-45534730-G-T | c.470+81G>T | - | IntronicSNV | - | 5/20 | 1 |
| 21-45534807-C-G | c.470+158C>G | - | IntronicSNV | - | 5/20 | 1 |
| 21-45535002-G-T | c.471-143G>T | - | IntronicSNV | - | 5/20 | 3 |
| 21-45535060-G-A | c.471-85G>A | - | IntronicSNV | - | 5/20 | 1 |
| 21-45535148-C-T | c.474C>T | p.C158= | Synonymous | 6/21 | - | 1 |
| 21-45535168-A-G | c.494A>G | p.D165G | Missense | 6/21 | - | 1 |
| 21-45535171-T-C | c.497T>C | p.M166T | Missense | 6/21 | - | 1 |
| 21-45535172-G-A | c.498G>A | p.M166I | Missense | 6/21 | - | 1 |
| 21-45535172-G-C | c.498G>C | p.M166I | Missense | 6/21 | - | 1 |
| 21-45535172-G-T | c.498G>T | p.M166I | Missense | 6/21 | - | 1 |
| 21-45535174-C-T | c.500C>T | p.S167F | Missense | 6/21 | - | 2 |
| 21-45535177-C-T | c.503C>T | p.T168I | Missense | 6/21 | - | 1 |
| 21-45535185-T-A | c.511T>A | p.F171I | Missense | 6/21 | - | 1 |
| 21-45535188-G-A | c.514G>A | p.G172R | Missense | 6/21 | - | 1 |
| 21-45535188-G-C | c.514G>C | p.G172R | Missense | 6/21 | - | 1 |
| 21-45535189-G-T | c.515G>T | p.G172V | Missense | 6/21 | - | 2 |
| 21-45535192-C-A | c.518C>A | p.A173D | Missense | 6/21 | - | 1 |
| 21-45535192-C-G | c.518C>G | p.A173G | Missense | 6/21 | - | 1 |
| 21-45535192-C-T | c.518C>T | p.A173V | Missense | 6/21 | - | 2 |
| 21-45535193-C-T | c.519C>T | p.A173= | Synonymous | 6/21 | - | 1 |
| 21-45535194-G-A | c.520G>A | p.E174K | Missense | 6/21 | - | 4 |
| 21-45535197-C-T | c.523C>T | p.R175C | Missense | 6/21 | - | 2 |
| 21-45535214-C-T | c.540C>T | p.I180= | Synonymous | 6/21 | - | 1 |
| 21-45535217-C-G | c.543C>G | p.Y181* | Nonsense | 6/21 | - | 1 |
| 21-45535218-T-C | c.544T>C | p.Y182H | Missense | 6/21 | - | 1 |
| 21-45535219-A-G | c.545A>G | p.Y182C | Missense | 6/21 | - | 1 |
| 21-45535225-T-A | c.551T>A | p.L184Q | Missense | 6/21 | - | 1 |
| 21-45535227-G-T | c.553G>T | p.G185W | Missense | 6/21 | - | 1 |
| 21-45535225-TG-T | c.557del | p.G186Dfs*41 | Frameshift | 6/21 | - | 1 |
| 21-45535231-G-A | c.557G>A | p.G186E | Missense | 6/21 | - | 1 |
| 21-45535236-A-G | c.562A>G | p.K188E | Missense | 6/21 | - | 1 |
| 21-45535237-A-T | c.563A>T | p.K188M | Missense | 6/21 | - | 3 |
| 21-45535238-G-A | c.564G>A | p.K188= | Synonymous | 6/21 | - | 1 |
| 21-45535247-C-T | c.573C>T | p.I191= | Synonymous | 6/21 | - | 1 |
| 21-45535256-C-T | c.582C>T | p.C194= | Synonymous | 6/21 | - | 1 |
| 21-45535263-G-A | c.589G>A | p.E197K | Missense | 6/21 | - | 1 |
| 21-45535270-A-G | c.596A>G | p.N199S | Missense | 6/21 | - | 1 |
| 21-45535278-G-A | c.604G>A | p.D202N | Missense | 6/21 | - | 1 |
| 21-45535280-C-T | c.606C>T | p.D202= | Synonymous | 6/21 | - | 3 |
| 21-45535281-G-A | c.606+1G>A | - | IntronicSNV | - | 6/20 | 1 |
| 21-45535577-C-T | c.612C>T | p.Y204= | Synonymous | 7/21 | - | 3 |
| 21-45535578-T-A | c.613T>A | p.S205T | Missense | 7/21 | - | 1 |
| 21-45535579-C-T | c.614C>T | p.S205L | Missense | 7/21 | - | 3 |
| 21-45535580-A-C | c.615A>C | p.S205= | Synonymous | 7/21 | - | 1 |
| 21-45535580-A-G | c.615A>G | p.S205= | Synonymous | 7/21 | - | 1 |
| 21-45535580-A-T | c.615A>T | p.S205= | Synonymous | 7/21 | - | 1 |
| 21-45535586-C-T | c.621C>T | p.S207= | Synonymous | 7/21 | - | 1 |
| 21-45535593-G-A | c.628G>A | p.G210R | Missense | 7/21 | - | 3 |
| 21-45535600-T-C | c.635T>C | p.L212P | Missense | 7/21 | - | 1 |
| 21-45535612-A-G | c.647A>G | p.Q216R | Missense | 7/21 | - | 1 |
| 21-45535623-C-A | c.658C>A | p.P220T | Missense | 7/21 | - | 2 |
| 21-45535624-C-T | c.659C>T | p.P220L | Missense | 7/21 | - | 3 |
| 21-45535626-C-T | c.661C>T | p.P221S | Missense | 7/21 | - | 1 |
| 21-45535622-G-GC | c.663dup | p.E222Rfs*63 | Frameshift | 7/21 | - | 1 |
| 21-45535629-G-A | c.664G>A | p.E222K | Missense | 7/21 | - | 1 |
| 21-45535637-G-A | c.672G>A | p.L224= | Synonymous | 7/21 | - | 1 |
| 21-45535638-C-A | c.673C>A | p.R225= | Synonymous | 7/21 | - | 1 |
| 21-45535640-G-C | c.675G>C | p.R225= | Synonymous | 7/21 | - | 1 |
| 21-45535640-G-T | c.675G>T | p.R225= | Synonymous | 7/21 | - | 1 |
| 21-45535639-G-A | c.674G>A | p.R225Q | Missense | 7/21 | - | 1 |
| 21-45535640-G-A | c.675G>A | p.R225= | Synonymous | 7/21 | - | 3 |
| 21-45535642-T-C | c.677T>C | p.L226P | Missense | 7/21 | - | 1 |
| 21-45535649-C-A | c.684C>A | p.P228= | Synonymous | 7/21 | - | 1 |
| 21-45535649-C-G | c.684C>G | p.P228= | Synonymous | 7/21 | - | 1 |
| 21-45535649-C-T | c.684C>T | p.P228= | Synonymous | 7/21 | - | 2 |
| 21-45535652-T-C | c.687T>C | p.P229= | Synonymous | 7/21 | - | 1 |
| 21-45535655-G-C | c.690G>C | p.A230= | Synonymous | 7/21 | - | 1 |
| 21-45535665-G-A | c.700G>A | p.A234T | Missense | 7/21 | - | 2 |
| 21-45535671-C-A | c.706C>A | p.L236M | Missense | 7/21 | - | 1 |
| 21-45535679-G-A | c.714G>A | p.Q238= | Synonymous | 7/21 | - | 1 |
| 21-45535680-CG-TA | c.715_716delinsTA | p.R239* | Nonsense | 7/21 | - | 1 |
| 21-45535688-G-A | c.723G>A | p.E241= | Synonymous | 7/21 | - | 1 |
| 21-45535691-A-G | c.726A>G | p.E242= | Synonymous | 7/21 | - | 1 |
| 21-45535698-G-A | c.733G>A | p.E245K | Missense | 7/21 | - | 3 |
| 21-45535701-G-A | c.736G>A | p.E246K | Missense | 7/21 | - | 1 |
| 21-45535704-G-A | c.739G>A | p.E247K | Missense | 7/21 | - | 1 |
| 21-45535691-AGAG-A | c.741_743del | p.E247del | InFrameDeletion | 7/21 | - | 3 |
| 21-45535713-G-A | c.748G>A | p.E250K | Missense | 7/21 | - | 1 |
| 21-45535719-G-A | c.754G>A | p.D252N | Missense | 7/21 | - | 1 |
| 21-45535723-G-A | c.758G>A | p.R253K | Missense | 7/21 | - | 1 |
| 21-45535731-A-T | c.766A>T | p.T256S | Missense | 7/21 | - | 1 |
| 21-45535732-C-G | c.767C>G | p.T256S | Missense | 7/21 | - | 1 |
| 21-45535732-C-T | c.767C>T | p.T256I | Missense | 7/21 | - | 1 |
| 21-45535737-C-T | c.772C>T | p.R258W | Missense | 7/21 | - | 1 |
| 21-45535740-G-A | c.775G>A | p.G259R | Missense | 7/21 | - | 1 |
| 21-45535740-G-GGGAAA | c.776_777insGAAAG | p.A261Efs*14 | Frameshift | 7/21 | - | 1 |
| 21-45535741-G-A | c.776G>A | p.G259E | Missense | 7/21 | - | 3 |
| 21-45535744-A-G | c.779A>G | p.K260R | Missense | 7/21 | - | 3 |
| 21-45535746-AGCC-A | c.781_783del | p.A261del | InFrameDeletion | 7/21 | - | 1 |
| 21-45535746-G-A | c.781G>A | p.A261T | Missense | 7/21 | - | 1 |
| 21-45535748-C-A | c.783C>A | p.A261= | Synonymous | 7/21 | - | 1 |
| 21-45535748-C-G | c.783C>G | p.A261= | Synonymous | 7/21 | - | 1 |
| 21-45535748-C-T | c.783C>T | p.A261= | Synonymous | 7/21 | - | 1 |
| 21-45535749-A-G | c.784A>G | p.T262A | Missense | 7/21 | - | 1 |
| 21-45535752-C-G | c.787C>G | p.P263A | Missense | 7/21 | - | 1 |
| 21-45535757-C-A | c.792C>A | p.A264= | Synonymous | 7/21 | - | 1 |
| 21-45535757-C-G | c.792C>G | p.A264= | Synonymous | 7/21 | - | 3 |
| 21-45535757-C-T | c.792C>T | p.A264= | Synonymous | 7/21 | - | 3 |
| 21-45535763-G-A | c.798G>A | p.E266= | Synonymous | 7/21 | - | 2 |
| 21-45535757-CGAG-C | c.799_801del | p.E267del | InFrameDeletion | 7/21 | - | 1 |
| 21-45535771-C-T | c.806C>T | p.T269I | Missense | 7/21 | - | 1 |
| 21-45535782-A-G | c.817A>G | p.K273E | Missense | 7/21 | - | 1 |
| 21-45535786-A-G | c.821A>G | p.Y274C | Missense | 7/21 | - | 1 |
| 21-45535791-C-T | c.826C>T | p.R276W | Missense | 7/21 | - | 1 |
| 21-45535794-C-T | c.829C>T | p.L277= | Synonymous | 7/21 | - | 1 |
| 21-45535796-G-A | c.831G>A | p.L277= | Synonymous | 7/21 | - | 1 |
| 21-45535796-G-C | c.831G>C | p.L277= | Synonymous | 7/21 | - | 1 |
| 21-45535796-G-T | c.831G>T | p.L277= | Synonymous | 7/21 | - | 1 |
| 21-45535798-C-T | c.833C>T | p.A278V | Missense | 7/21 | - | 1 |
| 21-45535799-C-T | c.834C>T | p.A278= | Synonymous | 7/21 | - | 1 |
| 21-45535817-G-C | c.836+16G>C | - | IntronicSNV | - | 7/20 | 1 |
| 21-45535854-T-G | c.836+53T>G | - | IntronicSNV | - | 7/20 | 1 |
| 21-45537705-T-A | c.841T>A | p.F281I | Missense | 8/21 | - | 1 |
| 21-45537710-C-T | c.846C>T | p.F282= | Synonymous | 8/21 | - | 1 |
| 21-45537717-G-T | c.853G>T | p.E285* | Nonsense | 8/21 | - | 1 |
| 21-45537719-A-T | c.855A>T | p.E285D | Missense | 8/21 | - | 1 |
| 21-45537723-G-A | c.859G>A | p.D287N | Missense | 8/21 | - | 6 |
| 21-45537735-C-G | c.871C>G | p.L291V | Missense | 8/21 | - | 1 |
| 21-45537739-C-T | c.875C>T | p.T292I | Missense | 8/21 | - | 1 |
| 21-45537741-G-A | c.877G>A | p.A293T | Missense | 8/21 | - | 1 |
| 21-45537745-C-A | c.881C>A | p.A294E | Missense | 8/21 | - | 1 |
| 21-45537745-C-T | c.881C>T | p.A294V | Missense | 8/21 | - | 1 |
| 21-45537749-A-C | c.885A>C | p.A295= | Synonymous | 8/21 | - | 1 |
| 21-45537749-A-G | c.885A>G | p.A295= | Synonymous | 8/21 | - | 1 |
| 21-45537749-A-T | c.885A>T | p.A295= | Synonymous | 8/21 | - | 1 |
| 21-45537762-T-C | c.898T>C | p.S300P | Missense | 8/21 | - | 3 |
| 21-45537764-T-A | c.900T>A | p.S300= | Synonymous | 8/21 | - | 1 |
| 21-45537764-T-C | c.900T>C | p.S300= | Synonymous | 8/21 | - | 2 |
| 21-45537764-T-G | c.900T>G | p.S300= | Synonymous | 8/21 | - | 1 |
| 21-45537765-C-T | c.901C>T | p.H301Y | Missense | 8/21 | - | 3 |
| 21-45537774-GTC-ATG | c.910_912delinsATG | p.V304M | Missense | 8/21 | - | 1 |
| 21-45537779-T-A | c.915T>A | p.T305= | Synonymous | 8/21 | - | 1 |
| 21-45537779-T-C | c.915T>C | p.T305= | Synonymous | 8/21 | - | 1 |
| 21-45537779-T-G | c.915T>G | p.T305= | Synonymous | 8/21 | - | 1 |
| 21-45537781-G-T | c.917G>T | p.G306V | Missense | 8/21 | - | 1 |
| 21-45537783-T-C | c.919T>C | p.F307L | Missense | 8/21 | - | 1 |
| 21-45537785-T-A | c.921T>A | p.F307L | Missense | 8/21 | - | 1 |
| 21-45537785-T-G | c.921T>G | p.F307L | Missense | 8/21 | - | 1 |
| 21-45537786-G-A | c.922G>A | p.A308T | Missense | 8/21 | - | 1 |
| 21-45537792-G-A | c.928G>A | p.G310R | Missense | 8/21 | - | 1 |
| 21-45537792-G-C | c.928G>C | p.G310R | Missense | 8/21 | - | 1 |
| 21-45537793-G-A | c.929G>A | p.G310E | Missense | 8/21 | - | 1 |
| 21-45537797-C-A | c.933C>A | p.I311= | Synonymous | 8/21 | - | 1 |
| 21-45537797-C-T | c.933C>T | p.I311= | Synonymous | 8/21 | - | 1 |
| 21-45537798-T-A | c.934T>A | p.F312I | Missense | 8/21 | - | 1 |
| 21-45537800-C-T | c.936C>T | p.F312= | Synonymous | 8/21 | - | 1 |
| 21-45537804-C-T | c.940C>T | p.L314F | Missense | 8/21 | - | 1 |
| 21-45537807-C-T | c.943C>T | p.H315Y | Missense | 8/21 | - | 1 |
| 21-45537808-A-T | c.944A>T | p.H315L | Missense | 8/21 | - | 1 |
| 21-45537810-G-A | c.946G>A | p.E316K | Missense | 8/21 | - | 1 |
| 21-45537813-C-T | c.949C>T | p.L317= | Synonymous | 8/21 | - | 2 |
| 21-45537819-G-A | c.955G>A | p.E319K | Missense | 8/21 | - | 1 |
| 21-45537828-C-T | c.964C>T | p.L322F | Missense | 8/21 | - | 1 |
| 21-45537833-C-T | c.969C>T | p.I323= | Synonymous | 8/21 | - | 2 |
| 21-45537836-C-G | c.972C>G | p.H324Q | Missense | 8/21 | - | 1 |
| 21-45537838-C-T | c.974C>T | p.S325F | Missense | 8/21 | - | 2 |
| 21-45537842-TG-T | c.978del | p.S327Afs*63 | Frameshift | 8/21 | - | 1 |
| 21-45538058-G-A | c.980+214G>A | - | IntronicSNV | - | 8/20 | 1 |
| 21-45538646-T-C | c.983T>C | p.I328T | Missense | 9/21 | - | 1 |
| 21-45538647-T-C | c.984T>C | p.I328= | Synonymous | 9/21 | - | 18 |
| 21-45538647-T-G | c.984T>G | p.I328M | Missense | 9/21 | - | 4 |
| 21-45538649-C-A | c.986C>A | p.S329* | Nonsense | 9/21 | - | 1 |
| 21-45538649-C-G | c.986C>G | p.S329* | Nonsense | 9/21 | - | 1 |
| 21-45538649-C-T | c.986C>T | p.S329L | Missense | 9/21 | - | 4 |
| 21-45538651-G-A | c.988G>A | p.D330N | Missense | 9/21 | - | 1 |
| 21-45538660-A-C | c.997A>C | p.I333L | Missense | 9/21 | - | 1 |
| 21-45538663-G-A | c.1000G>A | p.A334T | Missense | 9/21 | - | 2 |
| 21-45538667-C-T | c.1004C>T | p.S335L | Missense | 9/21 | - | 1 |
| 21-45538672-GC-TG | c.1009_1010delinsTG | p.A337C | Missense | 9/21 | - | 1 |
| 21-45538679-A-G | c.1016A>G | p.N339S | Missense | 9/21 | - | 1 |
| 21-45538685-C-T | c.1022C>T | p.S341L | Missense | 9/21 | - | 2 |
| 21-45538691-A-G | c.1028A>G | p.D343G | Missense | 9/21 | - | 1 |
| 21-45538706-G-A | c.1043G>A | p.G348D | Missense | 9/21 | - | 1 |
| 21-45538706-GC-AG | c.1043_1044delinsAG | p.G348E | Missense | 9/21 | - | 1 |
| 21-45538708-T-A | c.1045T>A | p.C349S | Missense | 9/21 | - | 1 |
| 21-45538709-G-C | c.1046G>C | p.C349S | Missense | 9/21 | - | 1 |
| 21-45538725-C-A | c.1051+11C>A | - | IntronicSNV | - | 9/20 | 7 |
| 21-45538725-C-G | c.1051+11C>G | - | IntronicSNV | - | 9/20 | 5 |
| 21-45538725-C-T | c.1051+11C>T | - | IntronicSNV | - | 9/20 | 5 |
| 21-45538782-A-T | c.1051+68A>T | - | IntronicSNV | - | 9/20 | 5 |
| 21-45539029-C-G | c.1052-239C>G | - | IntronicSNV | - | 9/20 | 1 |
| 21-45539029-C-T | c.1052-239C>T | - | IntronicSNV | - | 9/20 | 1 |
| 21-45539240-G-A | c.1052-28G>A | - | IntronicSNV | - | 9/20 | 4 |
| 21-45539240-G-C | c.1052-28G>C | - | IntronicSNV | - | 9/20 | 4 |
| 21-45539240-G-T | c.1052-28G>T | - | IntronicSNV | - | 9/20 | 4 |
| 21-45539268-G-A | c.1052G>A | p.G351D | Missense | 10/21 | - | 1 |
| 21-45539271-T-A | c.1055T>A | p.L352Q | Missense | 10/21 | - | 1 |
| 21-45539278-G-C | c.1062G>C | p.Q354H | Missense | 10/21 | - | 4 |
| 21-45539278-G-T | c.1062G>T | p.Q354H | Missense | 10/21 | - | 4 |
| 21-45539282-CTG-TTT | c.1066_1068delinsTTT | p.L356F | Missense | 10/21 | - | 1 |
| 21-45539287-G-A | c.1071G>A | p.V357= | Synonymous | 10/21 | - | 1 |
| 21-45539303-G-T | c.1087G>T | p.E363* | Nonsense | 10/21 | - | 1 |
| 21-45539314-G-T | c.1098G>T | p.V366= | Synonymous | 10/21 | - | 1 |
| 21-45539315-C-T | c.1099C>T | p.L367F | Missense | 10/21 | - | 1 |
| 21-45539318-A-G | c.1102A>G | p.K368E | Missense | 10/21 | - | 2 |
| 21-45539360-T-G | c.1144T>G | p.S382A | Missense | 10/21 | - | 1 |
| 21-45539361-C-T | c.1145C>T | p.S382L | Missense | 10/21 | - | 1 |
| 21-45539368-C-T | c.1152C>T | p.D384= | Synonymous | 10/21 | - | 1 |
| 21-45539369-G-A | c.1153G>A | p.G385R | Missense | 10/21 | - | 2 |
| 21-45539369-G-C | c.1153G>C | p.G385R | Missense | 10/21 | - | 2 |
| 21-45539374-G-A | c.1158G>A | p.Q386= | Synonymous | 10/21 | - | 1 |
| 21-45539381-G-A | c.1165G>A | p.V389M | Missense | 10/21 | - | 1 |
| 21-45539385-C-T | c.1169C>T | p.T390I | Missense | 10/21 | - | 1 |
| 21-45539390-G-T | c.1174G>T | p.G392W | Missense | 10/21 | - | 1 |
| 21-45539394-A-G | c.1178A>G | p.D393G | Missense | 10/21 | - | 2 |
| 21-45539395-C-T | c.1179C>T | p.D393= | Synonymous | 10/21 | - | 2 |
| 21-45539396-G-A | c.1180G>A | p.D394N | Missense | 10/21 | - | 2 |
| 21-45539401-C-A | c.1185C>A | p.G395= | Synonymous | 10/21 | - | 1 |
| 21-45539401-C-G | c.1185C>G | p.G395= | Synonymous | 10/21 | - | 1 |
| 21-45539401-C-T | c.1185C>T | p.G395= | Synonymous | 10/21 | - | 1 |
| 21-45539426-G-A | c.1188+22G>A | - | IntronicSNV | - | 10/20 | 6 |
| 21-45539534-C-T | c.1188+130C>T | - | IntronicSNV | - | 10/20 | 1 |
| 21-45540143-G-A | c.1189-86G>A | - | IntronicSNV | - | 10/20 | 4 |
| 21-45540207-C-T | c.1189-22C>T | - | IntronicSNV | - | 10/20 | 5 |
| 21-45540231-C-A | c.1191C>A | p.V397= | Synonymous | 11/21 | - | 1 |
| 21-45540231-C-G | c.1191C>G | p.V397= | Synonymous | 11/21 | - | 1 |
| 21-45540231-C-T | c.1191C>T | p.V397= | Synonymous | 11/21 | - | 1 |
| 21-45540235-G-A | c.1195G>A | p.V399M | Missense | 11/21 | - | 3 |
| 21-45540235-G-T | c.1195G>T | p.V399L | Missense | 11/21 | - | 1 |
| 21-45540237-G-A | c.1197G>A | p.V399= | Synonymous | 11/21 | - | 1 |
| 21-45540237-G-C | c.1197G>C | p.V399= | Synonymous | 11/21 | - | 1 |
| 21-45540237-G-T | c.1197G>T | p.V399= | Synonymous | 11/21 | - | 1 |
| 21-45540240-G-A | c.1200G>A | p.W400* | Nonsense | 11/21 | - | 1 |
| 21-45540245-C-T | c.1205C>T | p.T402I | Missense | 11/21 | - | 1 |
| 21-45540253-G-A | c.1213G>A | p.G405S | Missense | 11/21 | - | 2 |
| 21-45540253-G-C | c.1213G>C | p.G405R | Missense | 11/21 | - | 1 |
| 21-45540253-G-T | c.1213G>T | p.G405C | Missense | 11/21 | - | 1 |
| 21-45540252-CG-C | c.1214del | p.G405Afs*14 | Frameshift | 11/21 | - | 1 |
| 21-45540254-GC-AG | c.1214_1215delinsAG | p.G405E | Missense | 11/21 | - | 1 |
| 21-45540259-T-G | c.1219T>G | p.C407G | Missense | 11/21 | - | 1 |
| 21-45540259-TG-AC | c.1219_1220delinsAC | p.C407T | Missense | 11/21 | - | 1 |
| 21-45540261-C-T | c.1221C>T | p.C407= | Synonymous | 11/21 | - | 1 |
| 21-45540264-C-T | c.1224C>T | p.F408= | Synonymous | 11/21 | - | 2 |
| 21-45540274-A-G | c.1234A>G | p.T412A | Missense | 11/21 | - | 1 |
| 21-45540277-G-A | c.1237G>A | p.E413K | Missense | 11/21 | - | 1 |
| 21-45540279-G-A | c.1239G>A | p.E413= | Synonymous | 11/21 | - | 2 |
| 21-45540284-C-G | c.1244C>G | p.S415C | Missense | 11/21 | - | 1 |
| 21-45540291-G-A | c.1251G>A | p.G417= | Synonymous | 11/21 | - | 1 |
| 21-45540293-T-C | c.1253T>C | p.V418A | Missense | 11/21 | - | 1 |
| 21-45540297-C-T | c.1257C>T | p.T419= | Synonymous | 11/21 | - | 1 |
| 21-45540298-G-A | c.1258G>A | p.G420S | Missense | 11/21 | - | 1 |
| 21-45540301-G-C | c.1261G>C | p.V421L | Missense | 11/21 | - | 1 |
| 21-45540301-G-T | c.1261G>T | p.V421L | Missense | 11/21 | - | 1 |
| 21-45540301-GTG-ATC | c.1261_1263delinsATC | p.V421I | Missense | 11/21 | - | 1 |
| 21-45540305-C-T | c.1265C>T | p.T422I | Missense | 11/21 | - | 1 |
| 21-45540306-C-T | c.1266C>T | p.T422= | Synonymous | 11/21 | - | 2 |
| 21-45540313-G-A | c.1273G>A | p.A425T | Missense | 11/21 | - | 3 |
| 21-45540313-G-C | c.1273G>C | p.A425P | Missense | 11/21 | - | 1 |
| 21-45540314-C-G | c.1274C>G | p.A425G | Missense | 11/21 | - | 1 |
| 21-45540318-C-T | c.1278C>T | p.T426= | Synonymous | 11/21 | - | 1 |
| 21-45540319-G-A | c.1279G>A | p.G427S | Missense | 11/21 | - | 1 |
| 21-45540324-C-T | c.1284C>T | p.Y428= | Synonymous | 11/21 | - | 1 |
| 21-45540325-G-T | c.1285G>T | p.V429F | Missense | 11/21 | - | 1 |
| 21-45540326-T-C | c.1286T>C | p.V429A | Missense | 11/21 | - | 1 |
| 21-45540332-T-C | c.1292T>C | p.V431A | Missense | 11/21 | - | 1 |
| 21-45540335-C-T | c.1295C>T | p.T432I | Missense | 11/21 | - | 2 |
| 21-45540342-C-T | c.1302C>T | p.S434= | Synonymous | 11/21 | - | 3 |
| 21-45540348-C-T | c.1308C>T | p.D436= | Synonymous | 11/21 | - | 1 |
| 21-45540349-G-A | c.1309G>A | p.G437R | Missense | 11/21 | - | 3 |
| 21-45540349-G-C | c.1309G>C | p.G437R | Missense | 11/21 | - | 3 |
| 21-45540354-C-G | c.1314C>G | p.T438= | Synonymous | 11/21 | - | 1 |
| 21-45540354-C-T | c.1314C>T | p.T438= | Synonymous | 11/21 | - | 1 |
| 21-45540355-G-A | c.1315G>A | p.V439M | Missense | 11/21 | - | 4 |
| 21-45540358-C-T | c.1318C>T | p.R440* | Nonsense | 11/21 | - | 2 |
| 21-45540359-G-GA | c.1320dup | p.A441Sfs*3 | Frameshift | 11/21 | - | 1 |
| 21-45540363-C-A | c.1323C>A | p.A441= | Synonymous | 11/21 | - | 1 |
| 21-45540365-T-C | c.1325T>C | p.F442S | Missense | 11/21 | - | 1 |
| 21-45540367-G-A | c.1327G>A | p.D443N | Missense | 11/21 | - | 1 |
| 21-45540369-C-T | c.1329C>T | p.D443= | Synonymous | 11/21 | - | 1 |
| 21-45540376-AG-CA | c.1336_1337delinsCA | p.R446Q | Missense | 11/21 | - | 1 |
| 21-45540376-A-T | c.1336A>T | p.R446W | Missense | 11/21 | - | 4 |
| 21-45540377-G-A | c.1337G>A | p.R446K | Missense | 11/21 | - | 1 |
| 21-45540377-G-T | c.1337G>T | p.R446M | Missense | 11/21 | - | 1 |
| 21-45540513-T-C | c.1339T>C | p.Y447H | Missense | 12/21 | - | 2 |
| 21-45540517-G-T | c.1343G>T | p.R448L | Missense | 12/21 | - | 1 |
| 21-45540525-C-T | c.1351C>T | p.R451C | Missense | 12/21 | - | 4 |
| 21-45540527-C-T | c.1353C>T | p.R451= | Synonymous | 12/21 | - | 1 |
| 21-45540528-A-T | c.1354A>T | p.T452S | Missense | 12/21 | - | 6 |
| 21-45540529-C-G | c.1355C>G | p.T452S | Missense | 12/21 | - | 4 |
| 21-45540530-C-A | c.1356C>A | p.T452= | Synonymous | 12/21 | - | 1 |
| 21-45540530-C-G | c.1356C>G | p.T452= | Synonymous | 12/21 | - | 1 |
| 21-45540530-C-T | c.1356C>T | p.T452= | Synonymous | 12/21 | - | 2 |
| 21-45540535-CC-TG | c.1361_1362delinsTG | p.T454M | Missense | 12/21 | - | 1 |
| 21-45540540-C-G | c.1366C>G | p.P456A | Missense | 12/21 | - | 2 |
| 21-45540540-C-T | c.1366C>T | p.P456S | Missense | 12/21 | - | 1 |
| 21-45540541-C-G | c.1367C>G | p.P456R | Missense | 12/21 | - | 1 |
| 21-45540543-CGC-TGG | c.1369_1371delinsTGG | p.R457W | Missense | 12/21 | - | 1 |
| 21-45540543-C-T | c.1369C>T | p.R457C | Missense | 12/21 | - | 3 |
| 21-45540544-G-A | c.1370G>A | p.R457H | Missense | 12/21 | - | 1 |
| 21-45540551-C-A | c.1377C>A | p.T459= | Synonymous | 12/21 | - | 1 |
| 21-45540551-C-G | c.1377C>G | p.T459= | Synonymous | 12/21 | - | 1 |
| 21-45540551-C-T | c.1377C>T | p.T459= | Synonymous | 12/21 | - | 2 |
| 21-45540563-T-C | c.1389T>C | p.C463= | Synonymous | 12/21 | - | 1 |
| 21-45540568-C-T | c.1394C>T | p.A465V | Missense | 12/21 | - | 2 |
| 21-45540569-G-A | c.1395G>A | p.A465= | Synonymous | 12/21 | - | 1 |
| 21-45540569-G-C | c.1395G>C | p.A465= | Synonymous | 12/21 | - | 1 |
| 21-45540569-G-T | c.1395G>T | p.A465= | Synonymous | 12/21 | - | 1 |
| 21-45540577-C-G | c.1403C>G | p.A468G | Missense | 12/21 | - | 2 |
| 21-45540582-G-A | c.1408G>A | p.G470S | Missense | 12/21 | - | 3 |
| 21-45540591-G-A | c.1417G>A | p.V473I | Missense | 12/21 | - | 1 |
| 21-45540597-G-A | c.1423G>A | p.A475T | Missense | 12/21 | - | 1 |
| 21-45540602-G-A | c.1428G>A | p.G476= | Synonymous | 12/21 | - | 1 |
| 21-45540602-G-C | c.1428G>C | p.G476= | Synonymous | 12/21 | - | 1 |
| 21-45540602-G-T | c.1428G>T | p.G476= | Synonymous | 12/21 | - | 1 |
| 21-45540603-G-T | c.1429G>T | p.A477S | Missense | 12/21 | - | 1 |
| 21-45540605-G-A | c.1431G>A | p.A477= | Synonymous | 12/21 | - | 1 |
| 21-45540605-G-T | c.1431G>T | p.A477= | Synonymous | 12/21 | - | 1 |
| 21-45540611-C-A | c.1437C>A | p.D479E | Missense | 12/21 | - | 1 |
| 21-45540611-C-G | c.1437C>G | p.D479E | Missense | 12/21 | - | 1 |
| 21-45540613-C-T | c.1439C>T | p.S480F | Missense | 12/21 | - | 1 |
| 21-45540615-T-C | c.1441T>C | p.F481L | Missense | 12/21 | - | 1 |
| 21-45540617-T-A | c.1443T>A | p.F481L | Missense | 12/21 | - | 1 |
| 21-45540617-T-G | c.1443T>G | p.F481L | Missense | 12/21 | - | 1 |
| 21-45540626-C-T | c.1452C>T | p.F484= | Synonymous | 12/21 | - | 3 |
| 21-45540635-C-T | c.1461C>T | p.S487= | Synonymous | 12/21 | - | 2 |
| 21-45540639-C-A | c.1465C>A | p.Q489K | Missense | 12/21 | - | 1 |
| 21-45540641-G-A | c.1467G>A | p.Q489= | Synonymous | 12/21 | - | 1 |
| 21-45540644-A-C | c.1470A>C | p.T490= | Synonymous | 12/21 | - | 1 |
| 21-45540644-A-G | c.1470A>G | p.T490= | Synonymous | 12/21 | - | 1 |
| 21-45540644-A-T | c.1470A>T | p.T490= | Synonymous | 12/21 | - | 1 |
| 21-45540648-A-C | c.1474A>C | p.R492= | Synonymous | 12/21 | - | 1 |
| 21-45540648-AGG-TGT | c.1474_1476delinsTGT | p.R492C | Missense | 12/21 | - | 1 |
| 21-45540650-G-A | c.1476G>A | p.R492= | Synonymous | 12/21 | - | 3 |
| 21-45540650-G-T | c.1476G>T | p.R492S | Missense | 12/21 | - | 1 |
| 21-45540652-T-C | c.1478T>C | p.L493P | Missense | 12/21 | - | 3 |
| 21-45540843-G-A | c.1496G>A | p.G499E | Missense | 13/21 | - | 1 |
| 21-45540843-G-C | c.1496G>C | p.G499A | Missense | 13/21 | - | 1 |
| 21-45540847-C-T | c.1500C>T | p.H500= | Synonymous | 13/21 | - | 2 |
| 21-45540848-G-A | c.1501G>A | p.E501K | Missense | 13/21 | - | 2 |
| 21-45540871-T-C | c.1524T>C | p.C508= | Synonymous | 13/21 | - | 1 |
| 21-45540881-A-G | c.1534A>G | p.M512V | Missense | 13/21 | - | 1 |
| 21-45540890-G-A | c.1543G>A | p.V515I | Missense | 13/21 | - | 3 |
| 21-45540893-C-T | c.1546C>T | p.L516= | Synonymous | 13/21 | - | 1 |
| 21-45540895-G-A | c.1548G>A | p.L516= | Synonymous | 13/21 | - | 1 |
| 21-45540895-G-C | c.1548G>C | p.L516= | Synonymous | 13/21 | - | 1 |
| 21-45540895-G-T | c.1548G>T | p.L516= | Synonymous | 13/21 | - | 1 |
| 21-45540901-GT-G | c.1554del | p.S518Rfs*25 | Frameshift | 13/21 | - | 1 |
| 21-45540906-C-T | c.1559C>T | p.S520F | Missense | 13/21 | - | 2 |
| 21-45540909-G-C | c.1562G>C | p.W521S | Missense | 13/21 | - | 1 |
| 21-45540918-C-T | c.1571C>T | p.T524I | Missense | 13/21 | - | 1 |
| 21-45540919-A-C | c.1572A>C | p.T524= | Synonymous | 13/21 | - | 14 |
| 21-45540919-A-G | c.1572A>G | p.T524= | Synonymous | 13/21 | - | 19 |
| 21-45540919-A-T | c.1572A>T | p.T524= | Synonymous | 13/21 | - | 14 |
| 21-45540923-CGC-TGG | c.1576_1578delinsTGG | p.R526W | Missense | 13/21 | - | 1 |
| 21-45540923-C-T | c.1576C>T | p.R526C | Missense | 13/21 | - | 2 |
| 21-45540924-G-A | c.1577G>A | p.R526H | Missense | 13/21 | - | 1 |
| 21-45540930-G-A | c.1583G>A | p.W528* | Nonsense | 13/21 | - | 3 |
| 21-45540931-G-A | c.1584G>A | p.W528* | Nonsense | 13/21 | - | 3 |
| 21-45540932-G-A | c.1585G>A | p.D529N | Missense | 13/21 | - | 2 |
| 21-45540936-T-C | c.1589T>C | p.M530T | Missense | 13/21 | - | 1 |
| 21-45540947-T-C | c.1600T>C | p.W534R | Missense | 13/21 | - | 1 |
| 21-45540950-A-C | c.1603A>C | p.R535= | Synonymous | 13/21 | - | 1 |
| 21-45540952-G-A | c.1605G>A | p.R535= | Synonymous | 13/21 | - | 1 |
| 21-45540959-G-A | c.1612G>A | p.E538K | Missense | 13/21 | - | 1 |
| 21-45540961-G-A | c.1614G>A | p.E538= | Synonymous | 13/21 | - | 1 |
| 21-45540962-A-G | c.1615A>G | p.T539A | Missense | 13/21 | - | 5 |
| 21-45540963-C-T | c.1616C>T | p.T539M | Missense | 13/21 | - | 2 |
| 21-45540973-G-A | c.1626G>A | p.L542= | Synonymous | 13/21 | - | 1 |
| 21-45540976-C-A | c.1629C>A | p.T543= | Synonymous | 13/21 | - | 1 |
| 21-45540976-C-G | c.1629C>G | p.T543= | Synonymous | 13/21 | - | 1 |
| 21-45540976-C-T | c.1629C>T | p.T543= | Synonymous | 13/21 | - | 1 |
| 21-45540978-C-T | c.1631C>T | p.S544F | Missense | 13/21 | - | 1 |
| 21-45540980-G-C | c.1633G>C | p.D545H | Missense | 13/21 | - | 2 |
| 21-45541012-C-T | c.1636+29C>T | - | IntronicSNV | - | 13/20 | 1 |
| 21-45541258-G-A | c.1636+275G>A | - | IntronicSNV | - | 13/20 | 1 |
| 21-45542062-G-A | c.1641G>A | p.L547= | Synonymous | 14/21 | - | 1 |
| 21-45542072-T-A | c.1651T>A | p.F551I | Missense | 14/21 | - | 9 |
| 21-45542074-T-C | c.1653T>C | p.F551= | Synonymous | 14/21 | - | 1 |
| 21-45542075-C-T | c.1654C>T | p.R552C | Missense | 14/21 | - | 2 |
| 21-45542076-G-A | c.1655G>A | p.R552H | Missense | 14/21 | - | 1 |
| 21-45542081-G-C | c.1660G>C | p.D554H | Missense | 14/21 | - | 4 |
| 21-45542088-C-T | c.1667C>T | p.A556V | Missense | 14/21 | - | 1 |
| 21-45542094-T-C | c.1673T>C | p.L558P | Missense | 14/21 | - | 1 |
| 21-45542096-G-A | c.1675G>A | p.A559T | Missense | 14/21 | - | 1 |
| 21-45542097-C-T | c.1676C>T | p.A559V | Missense | 14/21 | - | 2 |
| 21-45542107-A-C | c.1686A>C | p.T562= | Synonymous | 14/21 | - | 1 |
| 21-45542107-A-G | c.1686A>G | p.T562= | Synonymous | 14/21 | - | 1 |
| 21-45542107-A-T | c.1686A>T | p.T562= | Synonymous | 14/21 | - | 1 |
| 21-45542113-C-T | c.1692C>T | p.N564= | Synonymous | 14/21 | - | 1 |
| 21-45542117-C-A | c.1696C>A | p.Q566K | Missense | 14/21 | - | 1 |
| 21-45542117-C-G | c.1696C>G | p.Q566E | Missense | 14/21 | - | 2 |
| 21-45542121-T-C | c.1700T>C | p.I567T | Missense | 14/21 | - | 2 |
| 21-45542123-A-T | c.1702A>T | p.T568S | Missense | 14/21 | - | 2 |
| 21-45542128-C-T | c.1707C>T | p.F569= | Synonymous | 14/21 | - | 2 |
| 21-45542135-C-T | c.1714C>T | p.P572S | Missense | 14/21 | - | 1 |
| 21-45542136-C-A | c.1715C>A | p.P572H | Missense | 14/21 | - | 1 |
| 21-45542143-C-T | c.1722C>T | p.N574= | Synonymous | 14/21 | - | 2 |
| 21-45542144-G-A | c.1723G>A | p.A575T | Missense | 14/21 | - | 1 |
| 21-45542145-C-T | c.1724C>T | p.A575V | Missense | 14/21 | - | 1 |
| 21-45542148-T-A | c.1727T>A | p.V576E | Missense | 14/21 | - | 2 |
| 21-45542149-G-A | c.1728G>A | p.V576= | Synonymous | 14/21 | - | 1 |
| 21-45542149-G-C | c.1728G>C | p.V576= | Synonymous | 14/21 | - | 2 |
| 21-45542149-G-T | c.1728G>T | p.V576= | Synonymous | 14/21 | - | 1 |
| 21-45542152-G-C | c.1731G>C | p.Q577H | Missense | 14/21 | - | 1 |
| 21-45542152-G-T | c.1731G>T | p.Q577H | Missense | 14/21 | - | 1 |
| 21-45542154-C-T | c.1733C>T | p.T578M | Missense | 14/21 | - | 2 |
| 21-45542158-C-T | c.1737C>T | p.G579= | Synonymous | 14/21 | - | 1 |
| 21-45542165-G-T | c.1744G>T | p.E582* | Nonsense | 14/21 | - | 1 |
| 21-45542167-G-A | c.1746G>A | p.E582= | Synonymous | 14/21 | - | 2 |
| 21-45542167-G-C | c.1746G>C | p.E582D | Missense | 14/21 | - | 1 |
| 21-45542167-G-T | c.1746G>T | p.E582D | Missense | 14/21 | - | 1 |
| 21-45542168-G-C | c.1747G>C | p.G583R | Missense | 14/21 | - | 1 |
| 21-45542169-G-T | c.1748G>T | p.G583V | Missense | 14/21 | - | 2 |
| 21-45542172-G-T | c.1751G>T | p.R584M | Missense | 14/21 | - | 2 |
| 21-45542171-A-C | c.1750A>C | p.R584= | Synonymous | 14/21 | - | 1 |
| 21-45542173-G-A | c.1752G>A | p.R584= | Synonymous | 14/21 | - | 2 |
| 21-45542174-C-T | c.1753C>T | p.H585Y | Missense | 14/21 | - | 1 |
| 21-45542175-A-C | c.1754A>C | p.H585P | Missense | 14/21 | - | 2 |
| 21-45542178-A-C | c.1757A>C | p.D586A | Missense | 14/21 | - | 2 |
| 21-45542192-A-G | c.1771A>G | p.R591G | Missense | 14/21 | - | 1 |
| 21-45542193-G-A | c.1772G>A | p.R591K | Missense | 14/21 | - | 2 |
| 21-45542204-G-A | c.1783G>A | p.D595N | Missense | 14/21 | - | 3 |
| 21-45542206-C-A | c.1785C>A | p.D595E | Missense | 14/21 | - | 1 |
| 21-45542208-A-T | c.1787A>T | p.K596M | Missense | 14/21 | - | 1 |
| 21-45542210-AT-A | c.1791del | p.T598Qfs*43 | Frameshift | 14/21 | - | 1 |
| 21-45542213-A-T | c.1792A>T | p.T598S | Missense | 14/21 | - | 1 |
| 21-45542214-C-T | c.1793C>T | p.T598I | Missense | 14/21 | - | 1 |
| 21-45542227-G-A | c.1806G>A | p.A602= | Synonymous | 14/21 | - | 1 |
| 21-45542228-G-T | c.1807G>T | p.A603S | Missense | 14/21 | - | 1 |
| 21-45542234-G-A | c.1813G>A | p.G605R | Missense | 14/21 | - | 1 |
| 21-45542234-G-C | c.1813G>C | p.G605R | Missense | 14/21 | - | 1 |
| 21-45542235-G-C | c.1814G>C | p.G605A | Missense | 14/21 | - | 1 |
| 21-45542238-A-T | c.1817A>T | p.K606M | Missense | 14/21 | - | 1 |
| 21-45542239-G-A | c.1817+1G>A | - | IntronicSNV | - | 14/20 | 1 |
| 21-45544471-G-A | c.1828G>A | p.A610T | Missense | 15/21 | - | 2 |
| 21-45544482-C-T | c.1839C>T | p.Y613= | Synonymous | 15/21 | - | 1 |
| 21-45544491-C-T | c.1848C>T | p.D616= | Synonymous | 15/21 | - | 1 |
| 21-45544499-G-A | c.1856G>A | p.S619N | Missense | 15/21 | - | 1 |
| 21-45544498-A-C | c.1855A>C | p.S619R | Missense | 15/21 | - | 1 |
| 21-45544500-C-A | c.1857C>A | p.S619R | Missense | 15/21 | - | 1 |
| 21-45544500-C-G | c.1857C>G | p.S619R | Missense | 15/21 | - | 1 |
| 21-45544507-G-A | c.1864G>A | p.A622T | Missense | 15/21 | - | 1 |
| 21-45544508-C-T | c.1865C>T | p.A622V | Missense | 15/21 | - | 1 |
| 21-45544509-G-A | c.1866G>A | p.A622= | Synonymous | 15/21 | - | 1 |
| 21-45544509-G-C | c.1866G>C | p.A622= | Synonymous | 15/21 | - | 2 |
| 21-45544511-G-C | c.1868G>C | p.G623A | Missense | 15/21 | - | 1 |
| 21-45544523-A-T | c.1880A>T | p.K627M | Missense | 15/21 | - | 1 |
| 21-45544527-C-A | c.1884C>A | p.F628L | Missense | 15/21 | - | 1 |
| 21-45544527-C-T | c.1884C>T | p.F628= | Synonymous | 15/21 | - | 1 |
| 21-45544546-C-T | c.1903C>T | p.R635C | Missense | 15/21 | - | 1 |
| 21-45544547-G-C | c.1904G>C | p.R635P | Missense | 15/21 | - | 2 |
| 21-45544561-A-C | c.1918A>C | p.M640L | Missense | 15/21 | - | 1 |
| 21-45544561-A-T | c.1918A>T | p.M640L | Missense | 15/21 | - | 1 |
| 21-45544562-T-C | c.1919T>C | p.M640T | Missense | 15/21 | - | 2 |
| 21-45544572-C-T | c.1929C>T | p.F643= | Synonymous | 15/21 | - | 2 |
| 21-45544573-G-A | c.1930G>A | p.E644K | Missense | 15/21 | - | 2 |
| 21-45544580-C-T | c.1937C>T | p.S646F | Missense | 15/21 | - | 1 |
| 21-45544588-C-T | c.1945C>T | p.L649= | Synonymous | 15/21 | - | 2 |
| 21-45544590-G-A | c.1947G>A | p.L649= | Synonymous | 15/21 | - | 2 |
| 21-45544590-G-C | c.1947G>C | p.L649= | Synonymous | 15/21 | - | 2 |
| 21-45544590-G-T | c.1947G>T | p.L649= | Synonymous | 15/21 | - | 2 |
| 21-45544592-C-T | c.1949C>T | p.S650F | Missense | 15/21 | - | 1 |
| 21-45544594-T-C | c.1951T>C | p.L651= | Synonymous | 15/21 | - | 19 |
| 21-45544597-G-A | c.1954G>A | p.D652N | Missense | 15/21 | - | 1 |
| 21-45544599-C-T | c.1956C>T | p.D652= | Synonymous | 15/21 | - | 2 |
| 21-45544601-C-T | c.1958C>T | p.A653V | Missense | 15/21 | - | 2 |
| 21-45544604-T-A | c.1961T>A | p.M654K | Missense | 15/21 | - | 1 |
| 21-45544604-T-C | c.1961T>C | p.M654T | Missense | 15/21 | - | 1 |
| 21-45544606-G-A | c.1963G>A | p.E655K | Missense | 15/21 | - | 1 |
| 21-45544612-A-G | c.1965+4A>G | - | IntronicSNV | - | 15/20 | 1 |
| 21-45544786-A-G | c.1965+178A>G | - | IntronicSNV | - | 15/20 | 1 |
| 21-45545896-T-A | c.1970T>A | p.F657Y | Missense | 16/21 | - | 1 |
| 21-45545894-AT-A | c.1973del | p.L658* | Frameshift | 16/21 | - | 1 |
| 21-45545899-T-C | c.1973T>C | p.L658S | Missense | 16/21 | - | 3 |
| 21-45545904-C-T | c.1978C>T | p.R660* | Nonsense | 16/21 | - | 1 |
| 21-45545905-G-A | c.1979G>A | p.R660Q | Missense | 16/21 | - | 2 |
| 21-45545915-G-A | c.1989G>A | p.M663I | Missense | 16/21 | - | 6 |
| 21-45545915-G-C | c.1989G>C | p.M663I | Missense | 16/21 | - | 4 |
| 21-45545915-G-T | c.1989G>T | p.M663I | Missense | 16/21 | - | 4 |
| 21-45545937-C-T | c.2011C>T | p.L671= | Synonymous | 16/21 | - | 1 |
| 21-45545944-A-T | c.2018A>T | p.D673V | Missense | 16/21 | - | 1 |
| 21-45545954-T-A | c.2028T>A | p.A676= | Synonymous | 16/21 | - | 1 |
| 21-45545954-T-C | c.2028T>C | p.A676= | Synonymous | 16/21 | - | 1 |
| 21-45545954-T-G | c.2028T>G | p.A676= | Synonymous | 16/21 | - | 1 |
| 21-45545959-A-G | c.2033A>G | p.Q678R | Missense | 16/21 | - | 1 |
| 21-45545963-G-A | c.2037G>A | p.E679= | Synonymous | 16/21 | - | 1 |
| 21-45545974-C-T | c.2048C>T | p.A683V | Missense | 16/21 | - | 1 |
| 21-45545979-C-G | c.2053C>G | p.P685A | Missense | 16/21 | - | 1 |
| 21-45545991-G-A | c.2065G>A | p.V689I | Missense | 16/21 | - | 2 |
| 21-45545992-T-A | c.2066T>A | p.V689D | Missense | 16/21 | - | 1 |
| 21-45545995-G-A | c.2069G>A | p.R690K | Missense | 16/21 | - | 1 |
| 21-45546005-G-A | c.2074+5G>A | - | IntronicSNV | - | 16/20 | 1 |
| 21-45546787-T-C | c.2081T>C | p.M694T | Missense | 17/21 | - | 1 |
| 21-45546795-C-T | c.2089C>T | p.R697W | Missense | 17/21 | - | 2 |
| 21-45546796-G-T | c.2090G>T | p.R697L | Missense | 17/21 | - | 1 |
| 21-45546812-G-A | c.2106G>A | p.E702= | Synonymous | 17/21 | - | 3 |
| 21-45546826-C-T | c.2120C>T | p.S707L | Missense | 17/21 | - | 1 |
| 21-45546830-C-T | c.2124C>T | p.L708= | Synonymous | 17/21 | - | 3 |
| 21-45546833-C-T | c.2127C>T | p.R709= | Synonymous | 17/21 | - | 1 |
| 21-45546835-T-A | c.2129T>A | p.F710Y | Missense | 17/21 | - | 1 |
| 21-45546838-C-G | c.2132C>G | p.S711C | Missense | 17/21 | - | 1 |
| 21-45546840-C-T | c.2134C>T | p.P712S | Missense | 17/21 | - | 2 |
| 21-45546845-T-A | c.2139T>A | p.T713= | Synonymous | 17/21 | - | 1 |
| 21-45546845-T-C | c.2139T>C | p.T713= | Synonymous | 17/21 | - | 1 |
| 21-45546845-T-G | c.2139T>G | p.T713= | Synonymous | 17/21 | - | 1 |
| 21-45547563-G-C | c.2141-250G>C | - | IntronicSNV | - | 17/20 | 2 |
| 21-45547751-A-AAAG | c.2141-62_2141-61insAAG | - | IntronicInsertion | - | 17/20 | 1 |
| 21-45547751-A-AAG | c.2141-62_2141-61insAG | - | IntronicInsertion | - | 17/20 | 1 |
| 21-45547752-G-A | c.2141-61G>A | - | IntronicSNV | - | 17/20 | 1 |
| 21-45547815-C-T | c.2143C>T | p.R715C | Missense | 18/21 | - | 1 |
| 21-45547816-G-A | c.2144G>A | p.R715H | Missense | 18/21 | - | 3 |
| 21-45547820-C-T | c.2148C>T | p.C716= | Synonymous | 18/21 | - | 1 |
| 21-45547831-C-T | c.2159C>T | p.T720I | Missense | 18/21 | - | 2 |
| 21-45547833-A-G | c.2161A>G | p.T721A | Missense | 18/21 | - | 1 |
| 21-45547834-C-T | c.2162C>T | p.T721I | Missense | 18/21 | - | 1 |
| 21-45547835-C-T | c.2163C>T | p.T721= | Synonymous | 18/21 | - | 1 |
| 21-45547838-G-A | c.2166G>A | p.T722= | Synonymous | 18/21 | - | 1 |
| 21-45547841-G-C | c.2169G>C | p.E723D | Missense | 18/21 | - | 2 |
| 21-45547841-G-T | c.2169G>T | p.E723D | Missense | 18/21 | - | 2 |
| 21-45547852-T-C | c.2180T>C | p.I727T | Missense | 18/21 | - | 1 |
| 21-45547855-A-T | c.2183A>T | p.Y728F | Missense | 18/21 | - | 1 |
| 21-45547857-TC-CT | c.2185_2186delinsCT | p.S729L | Missense | 18/21 | - | 1 |
| 21-45547859-C-A | c.2187C>A | p.S729= | Synonymous | 18/21 | - | 1 |
| 21-45547859-C-G | c.2187C>G | p.S729= | Synonymous | 18/21 | - | 1 |
| 21-45547859-C-T | c.2187C>T | p.S729= | Synonymous | 18/21 | - | 1 |
| 21-45547860-C-G | c.2188C>G | p.L730V | Missense | 18/21 | - | 2 |
| 21-45547871-C-T | c.2199C>T | p.R733= | Synonymous | 18/21 | - | 1 |
| 21-45547872-G-A | c.2200G>A | p.V734M | Missense | 18/21 | - | 1 |
| 21-45547881-G-A | c.2209G>A | p.D737N | Missense | 18/21 | - | 3 |
| 21-45547886-G-A | c.2214G>A | p.P738= | Synonymous | 18/21 | - | 2 |
| 21-45547886-G-C | c.2214G>C | p.P738= | Synonymous | 18/21 | - | 2 |
| 21-45547886-G-T | c.2214G>T | p.P738= | Synonymous | 18/21 | - | 2 |
| 21-45547893-C-T | c.2221C>T | p.L741= | Synonymous | 18/21 | - | 1 |
| 21-45547895-G-A | c.2223G>A | p.L741= | Synonymous | 18/21 | - | 1 |
| 21-45547904-C-T | c.2232C>T | p.S744= | Synonymous | 18/21 | - | 3 |
| 21-45547905-G-A | c.2233G>A | p.V745I | Missense | 18/21 | - | 3 |
| 21-45547909-C-T | c.2237C>T | p.T746I | Missense | 18/21 | - | 1 |
| 21-45547912-C-T | c.2240C>T | p.P747L | Missense | 18/21 | - | 2 |
| 21-45547908-AC-A | c.2241del | p.R749Gfs*58 | Frameshift | 18/21 | - | 1 |
| 21-45547913-C-A | c.2241C>A | p.P747= | Synonymous | 18/21 | - | 9 |
| 21-45547913-C-G | c.2241C>G | p.P747= | Synonymous | 18/21 | - | 4 |
| 21-45547913-C-T | c.2241C>T | p.P747= | Synonymous | 18/21 | - | 8 |
| 21-45547915-G-A | c.2243G>A | p.G748E | Missense | 18/21 | - | 1 |
| 21-45547923-C-T | c.2251C>T | p.R751C | Missense | 18/21 | - | 1 |
| 21-45547925-C-T | c.2253C>T | p.R751= | Synonymous | 18/21 | - | 1 |
| 21-45547920-GTGCGCGAGGCAC-G | c.2254_2265del | p.E752_R755del | InFrameDeletion | 18/21 | - | 1 |
| 21-45547933-T-G | c.2261T>G | p.L754R | Missense | 18/21 | - | 1 |
| 21-45547932-C-T | c.2260C>T | p.L754= | Synonymous | 18/21 | - | 1 |
| 21-45547934-G-A | c.2262G>A | p.L754= | Synonymous | 18/21 | - | 1 |
| 21-45547934-G-C | c.2262G>C | p.L754= | Synonymous | 18/21 | - | 1 |
| 21-45547934-G-T | c.2262G>T | p.L754= | Synonymous | 18/21 | - | 1 |
| 21-45547946-C-T | c.2274C>T | p.D758= | Synonymous | 18/21 | - | 1 |
| 21-45547949-C-T | c.2277C>T | p.F759= | Synonymous | 18/21 | - | 3 |
| 21-45547956-G-A | c.2284G>A | p.A762T | Missense | 18/21 | - | 2 |
| 21-45547957-C-T | c.2285C>T | p.A762V | Missense | 18/21 | - | 1 |
| 21-45547958-C-T | c.2286C>T | p.A762= | Synonymous | 18/21 | - | 1 |
| 21-45547964-C-G | c.2292C>G | p.L764= | Synonymous | 18/21 | - | 1 |
| 21-45547964-C-T | c.2292C>T | p.L764= | Synonymous | 18/21 | - | 1 |
| 21-45547965-A-C | c.2293A>C | p.M765L | Missense | 18/21 | - | 1 |
| 21-45547965-A-T | c.2293A>T | p.M765L | Missense | 18/21 | - | 1 |
| 21-45547968-G-A | c.2296G>A | p.A766T | Missense | 18/21 | - | 1 |
| 21-45547971-C-G | c.2299C>G | p.L767V | Missense | 18/21 | - | 1 |
| 21-45547975-G-A | c.2303G>A | p.R768Q | Missense | 18/21 | - | 2 |
| 21-45547982-C-T | c.2310C>T | p.N770= | Synonymous | 18/21 | - | 1 |
| 21-45547983-G-A | c.2311G>A | p.E771K | Missense | 18/21 | - | 1 |
| 21-45547990-A-G | c.2318A>G | p.K773R | Missense | 18/21 | - | 2 |
| 21-45548014-C-T | c.2342C>T | p.A781V | Missense | 18/21 | - | 1 |
| 21-45548025-G-A | c.2353G>A | p.G785S | Missense | 18/21 | - | 1 |
| 21-45548025-G-T | c.2353G>T | p.G785C | Missense | 18/21 | - | 1 |
| 21-45548030-G-T | c.2358G>T | p.E786D | Missense | 18/21 | - | 1 |
| 21-45548140-C-T | c.2372C>T | p.T791I | Missense | 19/21 | - | 4 |
| 21-45548146-C-T | c.2378C>T | p.S793F | Missense | 19/21 | - | 1 |
| 21-45548177-G-A | c.2409G>A | p.L803= | Synonymous | 19/21 | - | 1 |
| 21-45548185-T-C | c.2417T>C | p.L806S | Missense | 19/21 | - | 4 |
| 21-45548188-C-T | c.2420C>T | p.A807V | Missense | 19/21 | - | 1 |
| 21-45548191-C-T | c.2423C>T | p.S808F | Missense | 19/21 | - | 1 |
| 21-45548195-C-T | c.2427C>T | p.S809= | Synonymous | 19/21 | - | 3 |
| 21-45548209-G-A | c.2441G>A | p.R814H | Missense | 19/21 | - | 4 |
| 21-45548215-T-G | c.2447T>G | p.L816R | Missense | 19/21 | - | 1 |
| 21-45548214-C-T | c.2446C>T | p.L816= | Synonymous | 19/21 | - | 1 |
| 21-45548216-G-A | c.2448G>A | p.L816= | Synonymous | 19/21 | - | 2 |
| 21-45548216-G-C | c.2448G>C | p.L816= | Synonymous | 19/21 | - | 1 |
| 21-45548216-G-T | c.2448G>T | p.L816= | Synonymous | 19/21 | - | 1 |
| 21-45548228-C-T | c.2460C>T | p.L820= | Synonymous | 19/21 | - | 1 |
| 21-45548229-C-A | c.2461C>A | p.L821I | Missense | 19/21 | - | 1 |
| 21-45548229-C-T | c.2461C>T | p.L821F | Missense | 19/21 | - | 1 |
| 21-45548234-G-T | c.2466G>T | p.W822C | Missense | 19/21 | - | 1 |
| 21-45548235-AC-GG | c.2467_2468delinsGG | p.T823G | Missense | 19/21 | - | 1 |
| 21-45548236-C-T | c.2468C>T | p.T823I | Missense | 19/21 | - | 1 |
| 21-45548240-C-A | c.2472C>A | p.H824Q | Missense | 19/21 | - | 1 |
| 21-45548263-A-G | c.2495A>G | p.Q832R | Missense | 19/21 | - | 1 |
| 21-45548275-C-T | c.2507C>T | p.S836F | Missense | 19/21 | - | 2 |
| 21-45548276-C-T | c.2508C>T | p.S836= | Synonymous | 19/21 | - | 1 |
| 21-45548277-AG-CA | c.2509_2510delinsCA | p.R837Q | Missense | 19/21 | - | 1 |
| 21-45548435-C-G | c.2513C>G | p.A838G | Missense | 20/21 | - | 1 |
| 21-45548437-G-A | c.2515G>A | p.G839R | Missense | 20/21 | - | 4 |
| 21-45548437-G-C | c.2515G>C | p.G839R | Missense | 20/21 | - | 1 |
| 21-45548441-C-T | c.2519C>T | p.T840M | Missense | 20/21 | - | 1 |
| 21-45548442-G-A | c.2520G>A | p.T840= | Synonymous | 20/21 | - | 2 |
| 21-45548442-G-C | c.2520G>C | p.T840= | Synonymous | 20/21 | - | 2 |
| 21-45548442-G-T | c.2520G>T | p.T840= | Synonymous | 20/21 | - | 2 |
| 21-45548443-C-T | c.2521C>T | p.L841= | Synonymous | 20/21 | - | 1 |
| 21-45548445-G-A | c.2523G>A | p.L841= | Synonymous | 20/21 | - | 1 |
| 21-45548445-G-C | c.2523G>C | p.L841= | Synonymous | 20/21 | - | 1 |
| 21-45548445-G-T | c.2523G>T | p.L841= | Synonymous | 20/21 | - | 1 |
| 21-45548452-TGTCA-T | c.2530_2533del | p.V844Ffs*30 | Frameshift | 20/21 | - | 1 |
| 21-45548456-T-C | c.2534T>C | p.I845T | Missense | 20/21 | - | 1 |
| 21-45548463-C-T | c.2541C>T | p.F847= | Synonymous | 20/21 | - | 2 |
| 21-45548472-G-C | c.2550G>C | p.K850N | Missense | 20/21 | - | 2 |
| 21-45548472-G-T | c.2550G>T | p.K850N | Missense | 20/21 | - | 1 |
| 21-45548478-C-T | c.2556C>T | p.I852= | Synonymous | 20/21 | - | 3 |
| 21-45548479-C-T | c.2557C>T | p.Q853* | Nonsense | 20/21 | - | 1 |
| 21-45548493-C-T | c.2571C>T | p.D857= | Synonymous | 20/21 | - | 1 |
| 21-45548494-G-A | c.2572G>A | p.D858N | Missense | 20/21 | - | 1 |
| 21-45548501-C-T | c.2579C>T | p.S860L | Missense | 20/21 | - | 1 |
| 21-45548502-G-A | c.2580G>A | p.S860= | Synonymous | 20/21 | - | 1 |
| 21-45548502-G-C | c.2580G>C | p.S860= | Synonymous | 20/21 | - | 1 |
| 21-45548502-G-T | c.2580G>T | p.S860= | Synonymous | 20/21 | - | 1 |
| 21-45548522-A-T | c.2585+15A>T | - | IntronicSNV | - | 20/20 | 1 |
| 21-45548599-G-A | c.2585+92G>A | - | IntronicSNV | - | 20/20 | 1 |
| 21-45548677-G-C | c.2585+170G>C | - | IntronicSNV | - | 20/20 | 2 |
| 21-45548796-C-T | c.2585+289C>T | - | IntronicSNV | - | 20/20 | 1 |
| 21-45549873-T-C | c.2586-606T>C | - | IntronicSNV | - | 20/20 | 2 |
| 21-45550493-A-G | c.2600A>G | p.H867R | Missense | 21/21 | - | 1 |
| 21-45550497-T-A | c.2604T>A | p.Y868* | Nonsense | 21/21 | - | 1 |
| 21-45550497-T-G | c.2604T>G | p.Y868* | Nonsense | 21/21 | - | 1 |
| 21-45550499-A-C | c.2606A>C | p.N869T | Missense | 21/21 | - | 1 |
| 21-45550504-C-G | c.2611C>G | p.Q871E | Missense | 21/21 | - | 2 |
| 21-45550509-C-T | c.2616C>T | p.Y872= | Synonymous | 21/21 | - | 1 |
| 21-45550510-G-A | c.2617G>A | p.A873T | Missense | 21/21 | - | 2 |
| 21-45550517-C-A | c.2624C>A | p.A875E | Missense | 21/21 | - | 1 |
| 21-45550523-C-T | c.2630C>T | p.S877F | Missense | 21/21 | - | 1 |
| 21-45550525-A-C | c.2632A>C | p.K878Q | Missense | 21/21 | - | 5 |
| 21-45550525-A-T | c.2632A>T | p.K878* | Nonsense | 21/21 | - | 1 |
| 21-45550528-C-T | c.2635C>T | p.Q879* | Nonsense | 21/21 | - | 1 |
| 21-45550531-C-T | c.2638C>T | p.R880W | Missense | 21/21 | - | 2 |
| 21-45550536-C-A | c.2643C>A | p.G881= | Synonymous | 21/21 | - | 1 |
| 21-45550536-C-G | c.2643C>G | p.G881= | Synonymous | 21/21 | - | 1 |
| 21-45550536-C-T | c.2643C>T | p.G881= | Synonymous | 21/21 | - | 1 |
| 21-45550544-G-A | c.2651G>A | p.R884H | Missense | 21/21 | - | 2 |
| 21-45550544-G-C | c.2651G>C | p.R884P | Missense | 21/21 | - | 4 |
| 21-45550545-C-T | c.2652C>T | p.R884= | Synonymous | 21/21 | - | 1 |
| 21-45550557-G-A | c.2664G>A | p.P888= | Synonymous | 21/21 | - | 1 |
| 21-45550557-G-C | c.2664G>C | p.P888= | Synonymous | 21/21 | - | 1 |
| 21-45550557-G-T | c.2664G>T | p.P888= | Synonymous | 21/21 | - | 1 |
| 21-45550558-C-A | c.2665C>A | p.L889M | Missense | 21/21 | - | 1 |
| 21-45550569-G-A | c.2676G>A | p.E892= | Synonymous | 21/21 | - | 1 |
| 21-45550587-T-A | c.2694T>A | p.S898= | Synonymous | 21/21 | - | 3 |
| 21-45550587-T-C | c.2694T>C | p.S898= | Synonymous | 21/21 | - | 3 |
| 21-45550587-T-G | c.2694T>G | p.S898= | Synonymous | 21/21 | - | 4 |
| 21-45550592-A-G | c.2699A>G | p.D900G | Missense | 21/21 | - | 1 |
| 21-45550597-AG-CT | c.2704_2705inv | p.S902L | Missense | 21/21 | - | 1 |
| 21-45550600-C-T | c.2707C>T | p.L903= | Synonymous | 21/21 | - | 1 |
| 21-45550602-G-A | c.2709G>A | p.L903= | Synonymous | 21/21 | - | 1 |
| 21-45550602-G-C | c.2709G>C | p.L903= | Synonymous | 21/21 | - | 1 |
| 21-45550602-G-T | c.2709G>T | p.L903= | Synonymous | 21/21 | - | 1 |
| 21-45550603-C-T | c.2710C>T | p.H904Y | Missense | 21/21 | - | 1 |
| 21-45550604-A-G | c.2711A>G | p.H904R | Missense | 21/21 | - | 2 |
| 21-45550606-C-G | c.2713C>G | p.L905V | Missense | 21/21 | - | 2 |
| 21-45550618-G-C | c.2725G>C | p.G909R | Missense | 21/21 | - | 1 |
| 21-45550618-GG-AC | c.2725_2726delinsAC | p.G909T | Missense | 21/21 | - | 1 |
| 21-45550619-G-T | c.2726G>T | p.G909V | Missense | 21/21 | - | 1 |
| 21-45550623-C-G | c.2730C>G | p.G910= | Synonymous | 21/21 | - | 1 |
| 21-45550626-A-C | c.2733A>C | p.R911S | Missense | 21/21 | - | 1 |
| 21-45550626-A-T | c.2733A>T | p.R911S | Missense | 21/21 | - | 1 |
| 21-45550639-G-A | c.2746G>A | p.E916K | Missense | 21/21 | - | 1 |
| 21-45550645-C-A | c.2752C>A | p.L918M | Missense | 21/21 | - | 1 |
| 21-45550650-C-T | c.2757C>T | p.A919= | Synonymous | 21/21 | - | 3 |
| 21-45550959-C-T | c.*306C>T | - | 3-UTRSNV | 21/21 | - | 5 |