Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
5-32711633-C-A | c.-250C>A | - | 5-UTRSNV | 1/8 | - | 4 |
5-32711651-G-T | c.-232G>T | - | 5-UTRSNV | 1/8 | - | 1 |
5-32711652-A-T | c.-231A>T | - | 5-UTRSNV | 1/8 | - | 1 |
5-32711653-A-T | c.-230A>T | - | 5-UTRSNV | 1/8 | - | 1 |
5-32711653-A-ACTTTT | c.-229_-225dup | - | 5-UTRInsertion | 1/8 | - | 1 |
5-32711653-A-ACTTTTCTTTTT | c.-225_-224insCTTTTTCTTTT | - | 5-UTRInsertion | 1/8 | - | 1 |
5-32711837-G-A | c.-46G>A | - | 5-UTRSNV | 1/8 | - | 1 |
5-32711887-C-T | c.5C>T | p.P2L | Missense | 1/8 | - | 2 |
5-32711888-G-A | c.6G>A | p.P2= | Synonymous | 1/8 | - | 1 |
5-32711888-G-C | c.6G>C | p.P2= | Synonymous | 1/8 | - | 1 |
5-32711888-G-T | c.6G>T | p.P2= | Synonymous | 1/8 | - | 1 |
5-32711890-C-G | c.8C>G | p.S3C | Missense | 1/8 | - | 1 |
5-32711892-C-T | c.10C>T | p.L4= | Synonymous | 1/8 | - | 1 |
5-32711894-G-A | c.12G>A | p.L4= | Synonymous | 1/8 | - | 1 |
5-32711894-G-C | c.12G>C | p.L4= | Synonymous | 1/8 | - | 1 |
5-32711894-G-T | c.12G>T | p.L4= | Synonymous | 1/8 | - | 1 |
5-32711898-G-T | c.16G>T | p.V6L | Missense | 1/8 | - | 1 |
5-32711910-T-A | c.28T>A | p.S10T | Missense | 1/8 | - | 1 |
5-32711910-TC-CA | c.28_29delinsCA | p.S10H | Missense | 1/8 | - | 1 |
5-32711910-TCC-ATG | c.28_30delinsATG | p.S10M | Missense | 1/8 | - | 1 |
5-32711910-TC-CG | c.28_29delinsCG | p.S10R | Missense | 1/8 | - | 1 |
5-32711910-TCC-GAG | c.28_30delinsGAG | p.S10E | Missense | 1/8 | - | 2 |
5-32711910-TC-GA | c.28_29inv | p.S10D | Missense | 1/8 | - | 1 |
5-32711910-T-G | c.28T>G | p.S10A | Missense | 1/8 | - | 3 |
5-32711911-C-G | c.29C>G | p.S10C | Missense | 1/8 | - | 1 |
5-32711914-C-T | c.32C>T | p.P11L | Missense | 1/8 | - | 2 |
5-32711916-T-C | c.34T>C | p.C12R | Missense | 1/8 | - | 1 |
5-32711918-C-T | c.36C>T | p.C12= | Synonymous | 1/8 | - | 1 |
5-32711928-G-A | c.46G>A | p.G16S | Missense | 1/8 | - | 1 |
5-32711930-C-A | c.48C>A | p.G16= | Synonymous | 1/8 | - | 1 |
5-32711930-C-G | c.48C>G | p.G16= | Synonymous | 1/8 | - | 1 |
5-32711930-C-T | c.48C>T | p.G16= | Synonymous | 1/8 | - | 2 |
5-32711934-GCG-TTT | c.52_54delinsTTT | p.A18F | Missense | 1/8 | - | 1 |
5-32711935-CG-AC | c.53_54delinsAC | p.A18D | Missense | 1/8 | - | 1 |
5-32711944-C-T | c.62C>T | p.A21V | Missense | 1/8 | - | 1 |
5-32711945-C-A | c.63C>A | p.A21= | Synonymous | 1/8 | - | 3 |
5-32711945-C-G | c.63C>G | p.A21= | Synonymous | 1/8 | - | 2 |
5-32711945-C-T | c.63C>T | p.A21= | Synonymous | 1/8 | - | 2 |
5-32711950-G-T | c.68G>T | p.G23V | Missense | 1/8 | - | 1 |
5-32711952-AC-CA | c.70_71delinsCA | p.T24H | Missense | 1/8 | - | 1 |
5-32711955-G-T | c.73G>T | p.G25C | Missense | 1/8 | - | 1 |
5-32711958-GG-CT | c.76_77delinsCT | p.G26L | Missense | 1/8 | - | 1 |
5-32711961-G-A | c.79G>A | p.G27S | Missense | 1/8 | - | 1 |
5-32711966-C-A | c.84C>A | p.G28= | Synonymous | 1/8 | - | 1 |
5-32711966-C-G | c.84C>G | p.G28= | Synonymous | 1/8 | - | 1 |
5-32711966-C-T | c.84C>T | p.G28= | Synonymous | 1/8 | - | 1 |
5-32711967-G-A | c.85G>A | p.V29I | Missense | 1/8 | - | 1 |
5-32711957-TGGCGGTGGCGTTGGCGGCGGC-T | c.86_106del | p.V29_G35del | InFrameDeletion | 1/8 | - | 1 |
5-32711978-C-T | c.96C>T | p.G32= | Synonymous | 1/8 | - | 1 |
5-32711969-TGGC-T | c.99_101del | p.G35del | InFrameDeletion | 1/8 | - | 1 |
5-32711981-C-A | c.99C>A | p.G33= | Synonymous | 1/8 | - | 3 |
5-32711981-C-G | c.99C>G | p.G33= | Synonymous | 1/8 | - | 2 |
5-32711981-C-T | c.99C>T | p.G33= | Synonymous | 1/8 | - | 3 |
5-32711984-T-A | c.102T>A | p.G34= | Synonymous | 1/8 | - | 1 |
5-32711984-T-C | c.102T>C | p.G34= | Synonymous | 1/8 | - | 2 |
5-32711984-T-G | c.102T>G | p.G34= | Synonymous | 1/8 | - | 2 |
5-32711984-TGGC-T | c.104_106del | p.G35del | InFrameDeletion | 1/8 | - | 1 |
5-32711991-G-A | c.109G>A | p.G37S | Missense | 1/8 | - | 1 |
5-32711995-T-G | c.113T>G | p.I38R | Missense | 1/8 | - | 1 |
5-32712003-G-A | c.121G>A | p.G41R | Missense | 1/8 | - | 1 |
5-32712006-C-T | c.124C>T | p.R42C | Missense | 1/8 | - | 1 |
5-32712011-G-A | c.129G>A | p.Q43= | Synonymous | 1/8 | - | 1 |
5-32712015-AG-CA | c.133_134delinsCA | p.R45Q | Missense | 1/8 | - | 1 |
5-32712023-G-A | c.141G>A | p.A47= | Synonymous | 1/8 | - | 1 |
5-32712023-G-C | c.141G>C | p.A47= | Synonymous | 1/8 | - | 1 |
5-32712023-G-T | c.141G>T | p.A47= | Synonymous | 1/8 | - | 1 |
5-32712027-CCG-AAC | c.145_147delinsAAC | p.P49N | Missense | 1/8 | - | 1 |
5-32712027-C-T | c.145C>T | p.P49S | Missense | 1/8 | - | 1 |
5-32712030-C-T | c.148C>T | p.P50S | Missense | 1/8 | - | 1 |
5-32712032-A-G | c.150A>G | p.P50= | Synonymous | 1/8 | - | 1 |
5-32712042-G-A | c.160G>A | p.E54K | Missense | 1/8 | - | 1 |
5-32712046-T-C | c.164T>C | p.V55A | Missense | 1/8 | - | 1 |
5-32712047-G-T | c.165G>T | p.V55= | Synonymous | 1/8 | - | 2 |
5-32712054-T-A | c.172T>A | p.L58I | Missense | 1/8 | - | 1 |
5-32712054-T-G | c.172T>G | p.L58V | Missense | 1/8 | - | 1 |
5-32712057-CTG-TTT | c.175_177delinsTTT | p.L59F | Missense | 1/8 | - | 1 |
5-32712058-T-C | c.176T>C | p.L59P | Missense | 1/8 | - | 1 |
5-32712069-G-T | c.187G>T | p.D63Y | Missense | 1/8 | - | 1 |
5-32712073-C-G | c.191C>G | p.S64W | Missense | 1/8 | - | 1 |
5-32712074-G-A | c.192G>A | p.S64= | Synonymous | 1/8 | - | 1 |
5-32712077-C-A | c.195C>A | p.Y65* | Nonsense | 1/8 | - | 1 |
5-32712085-C-T | c.203C>T | p.S68L | Missense | 1/8 | - | 1 |
5-32712087-C-A | c.205C>A | p.L69I | Missense | 1/8 | - | 1 |
5-32712100-G-T | c.218G>T | p.R73L | Missense | 1/8 | - | 1 |
5-32712101-G-A | c.219G>A | p.R73= | Synonymous | 1/8 | - | 1 |
5-32712102-C-G | c.220C>G | p.P74A | Missense | 1/8 | - | 2 |
5-32712103-CG-AT | c.221_222delinsAT | p.P74H | Missense | 1/8 | - | 1 |
5-32712104-G-A | c.222G>A | p.P74= | Synonymous | 1/8 | - | 1 |
5-32712104-G-C | c.222G>C | p.P74= | Synonymous | 1/8 | - | 1 |
5-32712104-G-T | c.222G>T | p.P74= | Synonymous | 1/8 | - | 1 |
5-32712105-G-A | c.223G>A | p.A75T | Missense | 1/8 | - | 2 |
5-32712119-T-C | c.237T>C | p.A79= | Synonymous | 1/8 | - | 2 |
5-32712120-C-T | c.238C>T | p.L80= | Synonymous | 1/8 | - | 1 |
5-32712122-G-A | c.240G>A | p.L80= | Synonymous | 1/8 | - | 1 |
5-32712122-G-C | c.240G>C | p.L80= | Synonymous | 1/8 | - | 1 |
5-32712122-G-T | c.240G>T | p.L80= | Synonymous | 1/8 | - | 1 |
5-32712124-G-A | c.242G>A | p.R81H | Missense | 1/8 | - | 6 |
5-32712129-GTG-ATC | c.247_249delinsATC | p.V83I | Missense | 1/8 | - | 1 |
5-32712130-GT-G | c.248del | p.V83Gfs*105 | Frameshift | 1/8 | - | 1 |
5-32712135-G-A | c.253G>A | p.G85S | Missense | 1/8 | - | 1 |
5-32712139-A-G | c.257A>G | p.N86S | Missense | 1/8 | - | 3 |
5-32712141-G-T | c.259G>T | p.G87W | Missense | 1/8 | - | 3 |
5-32712144-A-C | c.262A>C | p.T88P | Missense | 1/8 | - | 1 |
5-32712147-G-A | c.265G>A | p.G89R | Missense | 1/8 | - | 1 |
5-32712147-G-C | c.265G>C | p.G89R | Missense | 1/8 | - | 1 |
5-32712147-G-T | c.265G>T | p.G89W | Missense | 1/8 | - | 1 |
5-32712150-A-G | c.268A>G | p.R90G | Missense | 1/8 | - | 1 |
5-32712153-CG-TA | c.271_272delinsTA | p.R91* | Nonsense | 1/8 | - | 1 |
5-32712153-C-T | c.271C>T | p.R91W | Missense | 1/8 | - | 1 |
5-32712156-C-T | c.274C>T | p.L92F | Missense | 1/8 | - | 1 |
5-32712159-C-G | c.277C>G | p.L93V | Missense | 1/8 | - | 1 |
5-32712159-C-T | c.277C>T | p.L93= | Synonymous | 1/8 | - | 1 |
5-32712161-G-A | c.279G>A | p.L93= | Synonymous | 1/8 | - | 1 |
5-32712161-G-C | c.279G>C | p.L93= | Synonymous | 1/8 | - | 1 |
5-32712161-G-T | c.279G>T | p.L93= | Synonymous | 1/8 | - | 1 |
5-32712162-C-A | c.280C>A | p.P94T | Missense | 1/8 | - | 1 |
5-32712162-C-T | c.280C>T | p.P94S | Missense | 1/8 | - | 1 |
5-32712163-C-A | c.281C>A | p.P94Q | Missense | 1/8 | - | 3 |
5-32712164-G-A | c.282G>A | p.P94= | Synonymous | 1/8 | - | 2 |
5-32712164-G-C | c.282G>C | p.P94= | Synonymous | 1/8 | - | 1 |
5-32712164-G-T | c.282G>T | p.P94= | Synonymous | 1/8 | - | 2 |
5-32712169-G-C | c.287G>C | p.G96A | Missense | 1/8 | - | 1 |
5-32712169-G-T | c.287G>T | p.G96V | Missense | 1/8 | - | 1 |
5-32712170-C-A | c.288C>A | p.G96= | Synonymous | 1/8 | - | 2 |
5-32712170-C-T | c.288C>T | p.G96= | Synonymous | 1/8 | - | 1 |
5-32712173-T-A | c.291T>A | p.T97= | Synonymous | 1/8 | - | 1 |
5-32712173-T-C | c.291T>C | p.T97= | Synonymous | 1/8 | - | 1 |
5-32712173-T-G | c.291T>G | p.T97= | Synonymous | 1/8 | - | 1 |
5-32712174-CGC-TGG | c.292_294delinsTGG | p.R98W | Missense | 1/8 | - | 1 |
5-32712174-C-T | c.292C>T | p.R98C | Missense | 1/8 | - | 2 |
5-32712179-C-T | c.297C>T | p.F99= | Synonymous | 1/8 | - | 1 |
5-32712184-T-C | c.302T>C | p.V101A | Missense | 1/8 | - | 1 |
5-32712187-C-G | c.305C>G | p.A102G | Missense | 1/8 | - | 1 |
5-32712189-T-C | c.307T>C | p.Y103H | Missense | 1/8 | - | 1 |
5-32712192-G-A | c.310G>A | p.E104K | Missense | 1/8 | - | 3 |
5-32712194-G-A | c.312G>A | p.E104= | Synonymous | 1/8 | - | 2 |
5-32712195-G-A | c.313G>A | p.D105N | Missense | 1/8 | - | 3 |
5-32712199-C-T | c.317C>T | p.S106L | Missense | 1/8 | - | 1 |
5-32712202-A-C | c.320A>C | p.D107A | Missense | 1/8 | - | 1 |
5-32712202-A-T | c.320A>T | p.D107V | Missense | 1/8 | - | 1 |
5-32712207-G-T | c.325G>T | p.G109W | Missense | 1/8 | - | 1 |
5-32712212-C-A | c.330C>A | p.N110K | Missense | 1/8 | - | 1 |
5-32712212-C-G | c.330C>G | p.N110K | Missense | 1/8 | - | 1 |
5-32712213-C-A | c.331C>A | p.R111S | Missense | 1/8 | - | 1 |
5-32712213-C-T | c.331C>T | p.R111C | Missense | 1/8 | - | 2 |
5-32712217-C-T | c.335C>T | p.A112V | Missense | 1/8 | - | 1 |
5-32712218-G-A | c.336G>A | p.A112= | Synonymous | 1/8 | - | 1 |
5-32712218-G-C | c.336G>C | p.A112= | Synonymous | 1/8 | - | 1 |
5-32712218-G-T | c.336G>T | p.A112= | Synonymous | 1/8 | - | 1 |
5-32712228-T-C | c.346T>C | p.L116= | Synonymous | 1/8 | - | 1 |
5-32712230-G-A | c.348G>A | p.L116= | Synonymous | 1/8 | - | 1 |
5-32712232-T-C | c.350T>C | p.V117A | Missense | 1/8 | - | 1 |
5-32712236-C-A | c.354C>A | p.D118E | Missense | 1/8 | - | 2 |
5-32712236-C-G | c.354C>G | p.D118E | Missense | 1/8 | - | 1 |
5-32712237-CGC-AAG | c.355_357delinsAAG | p.R119K | Missense | 1/8 | - | 2 |
5-32712237-C-T | c.355C>T | p.R119C | Missense | 1/8 | - | 1 |
5-32712239-C-A | c.357C>A | p.R119= | Synonymous | 1/8 | - | 1 |
5-32712241-T-C | c.359T>C | p.V120A | Missense | 1/8 | - | 1 |
5-32712247-C-T | c.365C>T | p.A122V | Missense | 1/8 | - | 2 |
5-32712249-G-A | c.367G>A | p.A123T | Missense | 1/8 | - | 1 |
5-32712250-C-T | c.368C>T | p.A123V | Missense | 1/8 | - | 1 |
5-32712251-G-A | c.369G>A | p.A123= | Synonymous | 1/8 | - | 2 |
5-32712252-C-A | c.370C>A | p.R124= | Synonymous | 1/8 | - | 1 |
5-32712254-G-A | c.372G>A | p.R124= | Synonymous | 1/8 | - | 1 |
5-32712254-G-C | c.372G>C | p.R124= | Synonymous | 1/8 | - | 1 |
5-32712254-G-T | c.372G>T | p.R124= | Synonymous | 1/8 | - | 1 |
5-32712253-G-A | c.371G>A | p.R124Q | Missense | 1/8 | - | 1 |
5-32712257-C-A | c.375C>A | p.G125= | Synonymous | 1/8 | - | 1 |
5-32712257-C-G | c.375C>G | p.G125= | Synonymous | 1/8 | - | 1 |
5-32712257-C-T | c.375C>T | p.G125= | Synonymous | 1/8 | - | 1 |
5-32712258-G-A | c.376G>A | p.A126T | Missense | 1/8 | - | 1 |
5-32712258-G-T | c.376G>T | p.A126S | Missense | 1/8 | - | 1 |
5-32712261-A-C | c.379A>C | p.K127Q | Missense | 1/8 | - | 1 |
5-32712263-G-A | c.381G>A | p.K127= | Synonymous | 1/8 | - | 1 |
5-32712263-G-C | c.381G>C | p.K127N | Missense | 1/8 | - | 2 |
5-32712263-G-T | c.381G>T | p.K127N | Missense | 1/8 | - | 3 |
5-32712265-C-T | c.383C>T | p.P128L | Missense | 1/8 | - | 1 |
5-32712271-T-C | c.389T>C | p.L130P | Missense | 1/8 | - | 1 |
5-32712271-T-G | c.389T>G | p.L130R | Missense | 1/8 | - | 2 |
5-32712275-C-A | c.393C>A | p.I131= | Synonymous | 1/8 | - | 1 |
5-32712275-C-T | c.393C>T | p.I131= | Synonymous | 1/8 | - | 1 |
5-32712281-G-A | c.399G>A | p.G133= | Synonymous | 1/8 | - | 1 |
5-32712281-G-C | c.399G>C | p.G133= | Synonymous | 1/8 | - | 1 |
5-32712281-G-T | c.399G>T | p.G133= | Synonymous | 1/8 | - | 1 |
5-32712284-A-C | c.402A>C | p.P134= | Synonymous | 1/8 | - | 1 |
5-32712284-A-G | c.402A>G | p.P134= | Synonymous | 1/8 | - | 2 |
5-32712284-A-T | c.402A>T | p.P134= | Synonymous | 1/8 | - | 1 |
5-32712287-G-A | c.405G>A | p.V135= | Synonymous | 1/8 | - | 1 |
5-32712287-G-C | c.405G>C | p.V135= | Synonymous | 1/8 | - | 1 |
5-32712287-G-T | c.405G>T | p.V135= | Synonymous | 1/8 | - | 1 |
5-32712290-C-T | c.408C>T | p.C136= | Synonymous | 1/8 | - | 1 |
5-32712292-A-T | c.410A>T | p.E137V | Missense | 1/8 | - | 1 |
5-32712294-T-C | c.412T>C | p.Y138H | Missense | 1/8 | - | 9 |
5-32712303-G-A | c.421G>A | p.A141T | Missense | 1/8 | - | 1 |
5-32712305-G-A | c.423G>A | p.A141= | Synonymous | 1/8 | - | 2 |
5-32712305-G-C | c.423G>C | p.A141= | Synonymous | 1/8 | - | 2 |
5-32712305-G-T | c.423G>T | p.A141= | Synonymous | 1/8 | - | 1 |
5-32712308-A-C | c.426A>C | p.P142= | Synonymous | 1/8 | - | 1 |
5-32712308-A-G | c.426A>G | p.P142= | Synonymous | 1/8 | - | 1 |
5-32712308-A-T | c.426A>T | p.P142= | Synonymous | 1/8 | - | 1 |
5-32712311-G-A | c.429G>A | p.V143= | Synonymous | 1/8 | - | 1 |
5-32712313-C-G | c.431C>G | p.A144G | Missense | 1/8 | - | 1 |
5-32712315-CGG-TGT | c.433_435delinsTGT | p.R145C | Missense | 1/8 | - | 1 |
5-32712315-C-T | c.433C>T | p.R145W | Missense | 1/8 | - | 1 |
5-32712322-C-G | c.440C>G | p.A147G | Missense | 1/8 | - | 1 |
5-32712324-T-C | c.442T>C | p.S148P | Missense | 1/8 | - | 4 |
5-32712325-C-T | c.443C>T | p.S148L | Missense | 1/8 | - | 3 |
5-32712335-C-G | c.453C>G | p.D151E | Missense | 1/8 | - | 1 |
5-32712336-C-A | c.454C>A | p.L152M | Missense | 1/8 | - | 3 |
5-32712341-C-A | c.459C>A | p.P153= | Synonymous | 1/8 | - | 1 |
5-32712343-T-C | c.461T>C | p.M154T | Missense | 1/8 | - | 1 |
5-32712343-T-G | c.461T>G | p.M154R | Missense | 1/8 | - | 1 |
5-32712344-G-T | c.462G>T | p.M154I | Missense | 1/8 | - | 1 |
5-32712349-C-T | c.467C>T | p.S156L | Missense | 1/8 | - | 1 |
5-32712350-G-A | c.468G>A | p.S156= | Synonymous | 1/8 | - | 1 |
5-32712350-G-C | c.468G>C | p.S156= | Synonymous | 1/8 | - | 1 |
5-32712350-G-T | c.468G>T | p.S156= | Synonymous | 1/8 | - | 1 |
5-32712351-G-A | c.469G>A | p.A157T | Missense | 1/8 | - | 2 |
5-32712357-G-A | c.475G>A | p.A159T | Missense | 1/8 | - | 1 |
5-32712358-C-T | c.476C>T | p.A159V | Missense | 1/8 | - | 2 |
5-32712359-G-A | c.477G>A | p.A159= | Synonymous | 1/8 | - | 1 |
5-32712360-C-T | c.478C>T | p.L160= | Synonymous | 1/8 | - | 1 |
5-32712362-G-A | c.480G>A | p.L160= | Synonymous | 1/8 | - | 1 |
5-32712362-G-C | c.480G>C | p.L160= | Synonymous | 1/8 | - | 1 |
5-32712362-G-T | c.480G>T | p.L160= | Synonymous | 1/8 | - | 1 |
5-32712363-G-A | c.481G>A | p.A161T | Missense | 1/8 | - | 1 |
5-32712364-C-A | c.482C>A | p.A161D | Missense | 1/8 | - | 1 |
5-32712368-T-C | c.486T>C | p.A162= | Synonymous | 1/8 | - | 1 |
5-32712381-A-G | c.499A>G | p.K167E | Missense | 1/8 | - | 1 |
5-32712384-G-A | c.502G>A | p.D168N | Missense | 1/8 | - | 5 |
5-32712386-C-A | c.504C>A | p.D168E | Missense | 1/8 | - | 2 |
5-32712386-C-G | c.504C>G | p.D168E | Missense | 1/8 | - | 2 |
5-32712388-C-CT | c.507dup | p.E170* | Nonsense | 1/8 | - | 1 |
5-32712393-T-C | c.511T>C | p.Y171H | Missense | 1/8 | - | 2 |
5-32712393-T-G | c.511T>G | p.Y171D | Missense | 1/8 | - | 1 |
5-32712395-C-T | c.513C>T | p.Y171= | Synonymous | 1/8 | - | 1 |
5-32712397-C-T | c.515C>T | p.S172L | Missense | 1/8 | - | 1 |
5-32712399-C-G | c.517C>G | p.H173D | Missense | 1/8 | - | 1 |
5-32712404-C-A | c.522C>A | p.L174= | Synonymous | 1/8 | - | 1 |
5-32712404-C-G | c.522C>G | p.L174= | Synonymous | 1/8 | - | 2 |
5-32712404-C-T | c.522C>T | p.L174= | Synonymous | 1/8 | - | 1 |
5-32712406-C-A | c.524C>A | p.T175K | Missense | 1/8 | - | 2 |
5-32712408-C-T | c.526C>T | p.R176C | Missense | 1/8 | - | 3 |
5-32712409-G-A | c.527G>A | p.R176H | Missense | 1/8 | - | 6 |
5-32712412-T-C | c.530T>C | p.V177A | Missense | 1/8 | - | 1 |
5-32712413-G-A | c.531G>A | p.V177= | Synonymous | 1/8 | - | 1 |
5-32712420-G-T | c.538G>T | p.A180S | Missense | 1/8 | - | 1 |
5-32712426-G-A | c.544G>A | p.A182T | Missense | 1/8 | - | 1 |
5-32712432-A-C | c.550A>C | p.M184L | Missense | 1/8 | - | 1 |
5-32712435-G-A | c.553G>A | p.G185S | Missense | 1/8 | - | 1 |
5-32712437-C-A | c.555C>A | p.G185= | Synonymous | 1/8 | - | 1 |
5-32712437-C-G | c.555C>G | p.G185= | Synonymous | 1/8 | - | 1 |
5-32712437-C-T | c.555C>T | p.G185= | Synonymous | 1/8 | - | 1 |
5-32712438-G-A | c.556G>A | p.E186K | Missense | 1/8 | - | 4 |
5-32712443-G-A | c.561G>A | p.M187I | Missense | 1/8 | - | 1 |
5-32712443-G-C | c.561G>C | p.M187I | Missense | 1/8 | - | 1 |
5-32712443-G-T | c.561G>T | p.M187I | Missense | 1/8 | - | 1 |
5-32712446-G-A | c.564G>A | p.M188I | Missense | 1/8 | - | 1 |
5-32712446-G-C | c.564G>C | p.M188I | Missense | 1/8 | - | 1 |
5-32712446-G-T | c.564G>T | p.M188I | Missense | 1/8 | - | 2 |
5-32712449-C-A | c.567C>A | p.L189= | Synonymous | 1/8 | - | 1 |
5-32712449-C-G | c.567C>G | p.L189= | Synonymous | 1/8 | - | 1 |
5-32712449-C-T | c.567C>T | p.L189= | Synonymous | 1/8 | - | 1 |
5-32712450-G-A | c.568G>A | p.A190T | Missense | 1/8 | - | 1 |
5-32712450-G-T | c.568G>T | p.A190S | Missense | 1/8 | - | 1 |
5-32712456-T-C | c.574T>C | p.F192L | Missense | 1/8 | - | 1 |
5-32712458-C-A | c.576C>A | p.F192L | Missense | 1/8 | - | 1 |
5-32712458-C-G | c.576C>G | p.F192L | Missense | 1/8 | - | 1 |
5-32712464-C-T | c.582C>T | p.H194= | Synonymous | 1/8 | - | 1 |
5-32712466-A-G | c.584A>G | p.H195R | Missense | 1/8 | - | 1 |
5-32712467-C-T | c.585C>T | p.H195= | Synonymous | 1/8 | - | 1 |
5-32712470-C-A | c.588C>A | p.H196Q | Missense | 1/8 | - | 1 |
5-32712470-C-G | c.588C>G | p.H196Q | Missense | 1/8 | - | 1 |
5-32712473-G-A | c.591G>A | p.W197* | Nonsense | 1/8 | - | 1 |
5-32712478-G-A | c.596G>A | p.R199H | Missense | 1/8 | - | 2 |
5-32712485-A-G | c.603A>G | p.A201= | Synonymous | 1/8 | - | 1 |
5-32712488-G-T | c.606G>T | p.L202= | Synonymous | 1/8 | - | 2 |
5-32712493-A-G | c.611A>G | p.Y204C | Missense | 1/8 | - | 2 |
5-32712495-A-C | c.613A>C | p.S205R | Missense | 1/8 | - | 1 |
5-32712497-C-A | c.615C>A | p.S205R | Missense | 1/8 | - | 1 |
5-32712497-C-G | c.615C>G | p.S205R | Missense | 1/8 | - | 1 |
5-32712498-G-A | c.616G>A | p.D206N | Missense | 1/8 | - | 2 |
5-32712501-G-A | c.619G>A | p.D207N | Missense | 1/8 | - | 1 |
5-32712503-C-A | c.621C>A | p.D207E | Missense | 1/8 | - | 2 |
5-32712508-T-C | c.626T>C | p.L209P | Missense | 1/8 | - | 2 |
5-32712513-C-T | c.631C>T | p.R211W | Missense | 1/8 | - | 2 |
5-32712514-G-A | c.632G>A | p.R211Q | Missense | 1/8 | - | 1 |
5-32712519-T-A | c.637T>A | p.C213S | Missense | 1/8 | - | 1 |
5-32712521-C-A | c.639C>A | p.C213* | Nonsense | 1/8 | - | 1 |
5-32712521-C-T | c.639C>T | p.C213= | Synonymous | 1/8 | - | 1 |
5-32712520-GCTA-G | c.641_643del | p.Y214del | InFrameDeletion | 1/8 | - | 2 |
5-32712526-T-A | c.644T>A | p.F215Y | Missense | 1/8 | - | 1 |
5-32712531-C-G | c.649C>G | p.L217V | Missense | 1/8 | - | 1 |
5-32712533-C-A | c.651C>A | p.L217= | Synonymous | 1/8 | - | 1 |
5-32712533-C-G | c.651C>G | p.L217= | Synonymous | 1/8 | - | 2 |
5-32712533-C-T | c.651C>T | p.L217= | Synonymous | 1/8 | - | 1 |
5-32712534-G-A | c.652G>A | p.E218K | Missense | 1/8 | - | 2 |
5-32712534-G-C | c.652G>C | p.E218Q | Missense | 1/8 | - | 1 |
5-32712535-A-C | c.653A>C | p.E218A | Missense | 1/8 | - | 1 |
5-32712537-G-GCCT | c.655_656insCCT | p.G219delinsAW | MultiAAMissense | 1/8 | - | 1 |
5-32712539-G-T | c.657G>T | p.G219= | Synonymous | 1/8 | - | 1 |
5-32712540-G-A | c.658G>A | p.V220I | Missense | 1/8 | - | 2 |
5-32712541-T-TATTG | c.659_660insATTG | p.H221Lfs*36 | Frameshift | 1/8 | - | 1 |
5-32712542-C-CG | c.660_661insG | p.H221Afs*35 | Frameshift | 1/8 | - | 1 |
5-32712545-C-T | c.663C>T | p.H221= | Synonymous | 1/8 | - | 1 |
5-32712548-G-T | c.666G>T | p.E222D | Missense | 1/8 | - | 1 |
5-32712551-C-A | c.669C>A | p.V223= | Synonymous | 1/8 | - | 1 |
5-32712551-C-G | c.669C>G | p.V223= | Synonymous | 1/8 | - | 1 |
5-32712551-C-T | c.669C>T | p.V223= | Synonymous | 1/8 | - | 1 |
5-32712554-C-T | c.672C>T | p.F224= | Synonymous | 1/8 | - | 1 |
5-32712556-A-T | c.674A>T | p.Q225L | Missense | 1/8 | - | 5 |
5-32712557-G-A | c.675G>A | p.Q225= | Synonymous | 1/8 | - | 1 |
5-32712557-G-C | c.675G>C | p.Q225H | Missense | 1/8 | - | 1 |
5-32712557-G-T | c.675G>T | p.Q225H | Missense | 1/8 | - | 1 |
5-32712561-G-T | c.679G>T | p.E227* | Nonsense | 1/8 | - | 5 |
5-32712570-C-G | c.688C>G | p.H230D | Missense | 1/8 | - | 1 |
5-32712570-C-T | c.688C>T | p.H230Y | Missense | 1/8 | - | 2 |
5-32712572-C-A | c.690C>A | p.H230Q | Missense | 1/8 | - | 1 |
5-32712572-C-G | c.690C>G | p.H230Q | Missense | 1/8 | - | 1 |
5-32712574-C-T | c.692C>T | p.T231M | Missense | 1/8 | - | 1 |
5-32712575-G-A | c.693G>A | p.T231= | Synonymous | 1/8 | - | 1 |
5-32712575-G-C | c.693G>C | p.T231= | Synonymous | 1/8 | - | 1 |
5-32712575-G-T | c.693G>T | p.T231= | Synonymous | 1/8 | - | 1 |
5-32712576-T-C | c.694T>C | p.S232P | Missense | 1/8 | - | 1 |
5-32712579-AT-GC | c.697_698delinsGC | p.I233A | Missense | 1/8 | - | 1 |
5-32712584-C-A | c.702C>A | p.Y234* | Nonsense | 1/8 | - | 5 |
5-32712584-C-G | c.702C>G | p.Y234* | Nonsense | 1/8 | - | 3 |
5-32712585-AG-TT | c.703_704delinsTT | p.S235F | Missense | 1/8 | - | 1 |
5-32712586-G-A | c.704G>A | p.S235N | Missense | 1/8 | - | 1 |
5-32712588-T-C | c.706T>C | p.F236L | Missense | 1/8 | - | 1 |
5-32712590-C-A | c.708C>A | p.F236L | Missense | 1/8 | - | 1 |
5-32712590-C-G | c.708C>G | p.F236L | Missense | 1/8 | - | 1 |
5-32712590-C-T | c.708C>T | p.F236= | Synonymous | 1/8 | - | 1 |
5-32712591-G-A | c.709G>A | p.D237N | Missense | 1/8 | - | 1 |
5-32712591-G-T | c.709G>T | p.D237Y | Missense | 1/8 | - | 3 |
5-32712594-G-A | c.712G>A | p.E238K | Missense | 1/8 | - | 1 |
5-32712598-CC-TG | c.716_717delinsTG | p.T239M | Missense | 1/8 | - | 1 |
5-32712603-G-T | c.721G>T | p.D241Y | Missense | 1/8 | - | 1 |
5-32712611-T-C | c.729T>C | p.D243= | Synonymous | 1/8 | - | 1 |
5-32712612-TCTGGAAGAC-T | c.730_738del | p.L244_D246del | InFrameDeletion | 1/8 | - | 1 |
5-32712620-C-A | c.738C>A | p.D246E | Missense | 1/8 | - | 1 |
5-32712620-C-G | c.738C>G | p.D246E | Missense | 1/8 | - | 1 |
5-32712620-C-T | c.738C>T | p.D246= | Synonymous | 1/8 | - | 1 |
5-32712621-A-C | c.739A>C | p.I247L | Missense | 1/8 | - | 1 |
5-32712623-C-A | c.741C>A | p.I247= | Synonymous | 1/8 | - | 2 |
5-32712623-C-G | c.741C>G | p.I247M | Missense | 1/8 | - | 7 |
5-32712623-C-T | c.741C>T | p.I247= | Synonymous | 1/8 | - | 2 |
5-32712624-G-A | c.742G>A | p.V248M | Missense | 1/8 | - | 1 |
5-32712628-G-A | c.746G>A | p.R249H | Missense | 1/8 | - | 6 |
5-32712636-C-T | c.754C>T | p.Q252* | Nonsense | 1/8 | - | 1 |
5-32712649-G-T | c.767G>T | p.R256I | Missense | 1/8 | - | 1 |
5-32712831-C-T | c.769+180C>T | - | IntronicSNV | - | 1/7 | 2 |
5-32713039-C-G | c.769+388C>G | - | IntronicSNV | - | 1/7 | 1 |
5-32713108-G-C | c.769+457G>C | - | IntronicSNV | - | 1/7 | 1 |
5-32714270-C-G | c.769+1619C>G | - | IntronicSNV | - | 1/7 | 7 |
5-32714270-C-T | c.769+1619C>T | - | IntronicSNV | - | 1/7 | 7 |
5-32714661-C-T | c.769+2010C>T | - | IntronicSNV | - | 1/7 | 1 |
5-32716474-CT-C | c.769+3835del | - | IntronicDeletion | - | 1/7 | 1 |
5-32716535-C-T | c.769+3884C>T | - | IntronicSNV | - | 1/7 | 5 |
5-32716576-C-G | c.769+3925C>G | - | IntronicSNV | - | 1/7 | 1 |
5-32716589-T-C | c.769+3938T>C | - | IntronicSNV | - | 1/7 | 1 |
5-32719693-C-T | c.770-5111C>T | - | IntronicSNV | - | 1/7 | 3 |
5-32722499-T-A | c.770-2305T>A | - | IntronicSNV | - | 1/7 | 1 |
5-32722499-T-C | c.770-2305T>C | - | IntronicSNV | - | 1/7 | 1 |
5-32724078-C-A | c.770-726C>A | - | IntronicSNV | - | 1/7 | 1 |
5-32724078-C-G | c.770-726C>G | - | IntronicSNV | - | 1/7 | 1 |
5-32724806-G-C | c.772G>C | p.V258L | Missense | 2/8 | - | 1 |
5-32724806-G-T | c.772G>T | p.V258L | Missense | 2/8 | - | 2 |
5-32724811-C-T | c.777C>T | p.I259= | Synonymous | 2/8 | - | 2 |
5-32724814-G-A | c.780G>A | p.M260I | Missense | 2/8 | - | 1 |
5-32724814-G-C | c.780G>C | p.M260I | Missense | 2/8 | - | 1 |
5-32724814-G-T | c.780G>T | p.M260I | Missense | 2/8 | - | 1 |
5-32724817-T-A | c.783T>A | p.C261* | Nonsense | 2/8 | - | 2 |
5-32724819-C-T | c.785C>T | p.A262V | Missense | 2/8 | - | 7 |
5-32724820-G-A | c.786G>A | p.A262= | Synonymous | 2/8 | - | 1 |
5-32724823-C-T | c.789C>T | p.S263= | Synonymous | 2/8 | - | 1 |
5-32724830-A-C | c.796A>C | p.T266P | Missense | 2/8 | - | 1 |
5-32724832-C-A | c.798C>A | p.T266= | Synonymous | 2/8 | - | 1 |
5-32724832-C-G | c.798C>G | p.T266= | Synonymous | 2/8 | - | 1 |
5-32724832-C-T | c.798C>T | p.T266= | Synonymous | 2/8 | - | 2 |
5-32724835-C-G | c.801C>G | p.I267M | Missense | 2/8 | - | 1 |
5-32724835-C-T | c.801C>T | p.I267= | Synonymous | 2/8 | - | 1 |
5-32724836-CGG-TGT | c.802_804delinsTGT | p.R268C | Missense | 2/8 | - | 1 |
5-32724836-C-T | c.802C>T | p.R268W | Missense | 2/8 | - | 2 |
5-32724837-G-A | c.803G>A | p.R268Q | Missense | 2/8 | - | 4 |
5-32724840-G-T | c.806G>T | p.S269I | Missense | 2/8 | - | 1 |
5-32724845-A-G | c.811A>G | p.M271V | Missense | 2/8 | - | 1 |
5-32724853-G-A | c.819G>A | p.V273= | Synonymous | 2/8 | - | 1 |
5-32724853-G-C | c.819G>C | p.V273= | Synonymous | 2/8 | - | 1 |
5-32724853-G-T | c.819G>T | p.V273= | Synonymous | 2/8 | - | 3 |
5-32724855-C-T | c.821C>T | p.A274V | Missense | 2/8 | - | 5 |
5-32724856-G-A | c.822G>A | p.A274= | Synonymous | 2/8 | - | 1 |
5-32724858-A-G | c.824A>G | p.H275R | Missense | 2/8 | - | 1 |
5-32724861-G-A | c.827G>A | p.R276K | Missense | 2/8 | - | 1 |
5-32724875-A-C | c.841A>C | p.S281R | Missense | 2/8 | - | 1 |
5-32724876-G-A | c.842G>A | p.S281N | Missense | 2/8 | - | 2 |
5-32724881-G-C | c.847G>C | p.D283H | Missense | 2/8 | - | 1 |
5-32724886-C-T | c.852C>T | p.Y284= | Synonymous | 2/8 | - | 2 |
5-32724887-G-A | c.853G>A | p.A285T | Missense | 2/8 | - | 3 |
5-32724887-G-C | c.853G>C | p.A285P | Missense | 2/8 | - | 1 |
5-32724888-C-T | c.854C>T | p.A285V | Missense | 2/8 | - | 1 |
5-32724892-C-T | c.858C>T | p.F286= | Synonymous | 2/8 | - | 1 |
5-32724900-T-A | c.866T>A | p.I289N | Missense | 2/8 | - | 1 |
5-32724901-T-G | c.867T>G | p.I289M | Missense | 2/8 | - | 2 |
5-32724903-A-G | c.869A>G | p.E290G | Missense | 2/8 | - | 1 |
5-32724915-G-T | c.881G>T | p.S294I | Missense | 2/8 | - | 1 |
5-32724925-ATG-A | c.891_892del | p.Y297* | SpliceDonorDeletion | 2/8 | - | 1 |
5-32725072-T-A | c.892+146T>A | - | IntronicSNV | - | 2/7 | 2 |
5-32725072-T-C | c.892+146T>C | - | IntronicSNV | - | 2/7 | 3 |
5-32725352-G-A | c.892+426G>A | - | IntronicSNV | - | 2/7 | 1 |
5-32725352-G-C | c.892+426G>C | - | IntronicSNV | - | 2/7 | 1 |
5-32725352-G-T | c.892+426G>T | - | IntronicSNV | - | 2/7 | 1 |
5-32725531-G-A | c.892+605G>A | - | IntronicSNV | - | 2/7 | 3 |
5-32726637-G-A | c.892+1711G>A | - | IntronicSNV | - | 2/7 | 1 |
5-32733075-C-G | c.893-5895C>G | - | IntronicSNV | - | 2/7 | 1 |
5-32733075-C-T | c.893-5895C>T | - | IntronicSNV | - | 2/7 | 1 |
5-32733418-C-T | c.893-5552C>T | - | IntronicSNV | - | 2/7 | 1 |
5-32734140-A-G | c.893-4830A>G | - | IntronicSNV | - | 2/7 | 1 |
5-32734327-A-G | c.893-4643A>G | - | IntronicSNV | - | 2/7 | 1 |
5-32734408-T-G | c.893-4562T>G | - | IntronicSNV | - | 2/7 | 1 |
5-32734511-G-A | c.893-4459G>A | - | IntronicSNV | - | 2/7 | 1 |
5-32734868-A-G | c.893-4102A>G | - | IntronicSNV | - | 2/7 | 5 |
5-32735119-T-A | c.893-3851T>A | - | IntronicSNV | - | 2/7 | 1 |
5-32738351-G-A | c.893-619G>A | - | IntronicSNV | - | 2/7 | 1 |
5-32738539-C-G | c.893-431C>G | - | IntronicSNV | - | 2/7 | 1 |
5-32738539-C-T | c.893-431C>T | - | IntronicSNV | - | 2/7 | 1 |
5-32738654-G-A | c.893-316G>A | - | IntronicSNV | - | 2/7 | 1 |
5-32738886-G-A | c.893-84G>A | - | IntronicSNV | - | 2/7 | 2 |
5-32738891-C-T | c.893-79C>T | - | IntronicSNV | - | 2/7 | 3 |
5-32738971-A-C | c.894A>C | p.G298= | Synonymous | 3/8 | - | 1 |
5-32738971-A-G | c.894A>G | p.G298= | Synonymous | 3/8 | - | 1 |
5-32738971-A-T | c.894A>T | p.G298= | Synonymous | 3/8 | - | 1 |
5-32738972-G-A | c.895G>A | p.D299N | Missense | 3/8 | - | 4 |
5-32738972-G-T | c.895G>T | p.D299Y | Missense | 3/8 | - | 1 |
5-32738974-T-A | c.897T>A | p.D299E | Missense | 3/8 | - | 1 |
5-32738976-G-A | c.899G>A | p.G300D | Missense | 3/8 | - | 1 |
5-32738979-C-A | c.902C>A | p.S301* | Nonsense | 3/8 | - | 1 |
5-32738979-C-G | c.902C>G | p.S301* | Nonsense | 3/8 | - | 1 |
5-32738985-A-G | c.908A>G | p.K303R | Missense | 3/8 | - | 1 |
5-32738988-G-C | c.911G>C | p.R304T | Missense | 3/8 | - | 1 |
5-32738990-G-A | c.913G>A | p.G305R | Missense | 3/8 | - | 1 |
5-32738990-G-C | c.913G>C | p.G305R | Missense | 3/8 | - | 1 |
5-32738990-G-T | c.913G>T | p.G305* | Nonsense | 3/8 | - | 1 |
5-32738991-G-A | c.914G>A | p.G305E | Missense | 3/8 | - | 1 |
5-32738999-C-T | c.922C>T | p.H308Y | Missense | 3/8 | - | 1 |
5-32739001-C-T | c.924C>T | p.H308= | Synonymous | 3/8 | - | 4 |
5-32739002-G-A | c.925G>A | p.D309N | Missense | 3/8 | - | 1 |
5-32739004-C-A | c.927C>A | p.D309E | Missense | 3/8 | - | 1 |
5-32739006-T-C | c.929T>C | p.F310S | Missense | 3/8 | - | 1 |
5-32739008-G-A | c.931G>A | p.E311K | Missense | 3/8 | - | 2 |
5-32739012-C-G | c.935C>G | p.A312G | Missense | 3/8 | - | 2 |
5-32739016-G-A | c.939G>A | p.K313= | Synonymous | 3/8 | - | 1 |
5-32739020-G-A | c.943G>A | p.A315T | Missense | 3/8 | - | 2 |
5-32739020-G-C | c.943G>C | p.A315P | Missense | 3/8 | - | 1 |
5-32739023-T-A | c.946T>A | p.Y316N | Missense | 3/8 | - | 1 |
5-32739032-C-A | c.955C>A | p.L319I | Missense | 3/8 | - | 2 |
5-32739033-T-C | c.956T>C | p.L319P | Missense | 3/8 | - | 1 |
5-32739038-A-C | c.961A>C | p.T321P | Missense | 3/8 | - | 1 |
5-32739039-C-T | c.962C>T | p.T321I | Missense | 3/8 | - | 1 |
5-32739042-T-C | c.965T>C | p.V322A | Missense | 3/8 | - | 1 |
5-32739048-T-G | c.971T>G | p.L324R | Missense | 3/8 | - | 1 |
5-32739047-C-T | c.970C>T | p.L324= | Synonymous | 3/8 | - | 1 |
5-32739049-A-C | c.972A>C | p.L324= | Synonymous | 3/8 | - | 1 |
5-32739049-A-G | c.972A>G | p.L324= | Synonymous | 3/8 | - | 1 |
5-32739049-A-T | c.972A>T | p.L324= | Synonymous | 3/8 | - | 1 |
5-32739052-G-A | c.975G>A | p.L325= | Synonymous | 3/8 | - | 1 |
5-32739054-G-A | c.977G>A | p.R326K | Missense | 3/8 | - | 1 |
5-32739058-A-C | c.981A>C | p.T327= | Synonymous | 3/8 | - | 1 |
5-32739059-G-T | c.982G>T | p.V328L | Missense | 3/8 | - | 1 |
5-32739060-T-C | c.983T>C | p.V328A | Missense | 3/8 | - | 1 |
5-32739067-T-A | c.990T>A | p.P330= | Synonymous | 3/8 | - | 2 |
5-32739072-T-C | c.995T>C | p.F332S | Missense | 3/8 | - | 3 |
5-32739073-T-C | c.996T>C | p.F332= | Synonymous | 3/8 | - | 1 |
5-32739074-G-A | c.997G>A | p.E333K | Missense | 3/8 | - | 1 |
5-32739076-G-A | c.999G>A | p.E333= | Synonymous | 3/8 | - | 1 |
5-32739084-CC-AA | c.1007_1008delinsAA | p.S336* | Nonsense | 3/8 | - | 1 |
5-32739084-C-T | c.1007C>T | p.S336F | Missense | 3/8 | - | 5 |
5-32739085-C-T | c.1008C>T | p.S336= | Synonymous | 3/8 | - | 3 |
5-32739087-T-C | c.1010T>C | p.M337T | Missense | 3/8 | - | 1 |
5-32739098-AG-CT | c.1021_1022inv | p.S341L | Missense | 3/8 | - | 1 |
5-32739099-G-C | c.1022G>C | p.S341T | Missense | 3/8 | - | 1 |
5-32739101-T-C | c.1024T>C | p.S342P | Missense | 3/8 | - | 1 |
5-32739102-C-T | c.1025C>T | p.S342L | Missense | 3/8 | - | 2 |
5-32739104-G-T | c.1027G>T | p.V343F | Missense | 3/8 | - | 1 |
5-32739107-G-A | c.1030G>A | p.E344K | Missense | 3/8 | - | 1 |
5-32739107-G-C | c.1030G>C | p.E344Q | Missense | 3/8 | - | 1 |
5-32739112-A-G | c.1035A>G | p.K345= | Synonymous | 3/8 | - | 1 |
5-32739117-G-T | c.1040G>T | p.G347V | Missense | 3/8 | - | 4 |
5-32739121-C-A | c.1044C>A | p.L348= | Synonymous | 3/8 | - | 1 |
5-32739121-C-G | c.1044C>G | p.L348= | Synonymous | 3/8 | - | 2 |
5-32739121-C-T | c.1044C>T | p.L348= | Synonymous | 3/8 | - | 1 |
5-32739129-A-T | c.1052A>T | p.E351V | Missense | 3/8 | - | 1 |
5-32739134-T-A | c.1057T>A | p.Y353N | Missense | 3/8 | - | 2 |
5-32739134-T-G | c.1057T>G | p.Y353D | Missense | 3/8 | - | 1 |
5-32739136-C-A | c.1059C>A | p.Y353* | Nonsense | 3/8 | - | 2 |
5-32739136-C-T | c.1059C>T | p.Y353= | Synonymous | 3/8 | - | 2 |
5-32739137-G-A | c.1059+1G>A | - | IntronicSNV | - | 3/7 | 1 |
5-32739227-A-G | c.1059+91A>G | - | IntronicSNV | - | 3/7 | 1 |
5-32739289-G-T | c.1059+153G>T | - | IntronicSNV | - | 3/7 | 1 |
5-32739289-GTT-G | c.1059+164_1059+165del | - | IntronicDeletion | - | 3/7 | 1 |
5-32739458-C-T | c.1059+322C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32739537-T-C | c.1059+401T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32739661-A-C | c.1059+525A>C | - | IntronicSNV | - | 3/7 | 4 |
5-32739661-A-G | c.1059+525A>G | - | IntronicSNV | - | 3/7 | 4 |
5-32740346-G-T | c.1059+1210G>T | - | IntronicSNV | - | 3/7 | 1 |
5-32740361-T-C | c.1059+1225T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32740468-T-C | c.1059+1332T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32740714-GA-G | c.1059+1588del | - | IntronicDeletion | - | 3/7 | 1 |
5-32741083-T-A | c.1059+1947T>A | - | IntronicSNV | - | 3/7 | 1 |
5-32741083-T-C | c.1059+1947T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32742465-C-T | c.1059+3329C>T | - | IntronicSNV | - | 3/7 | 3 |
5-32743177-G-A | c.1059+4041G>A | - | IntronicSNV | - | 3/7 | 1 |
5-32745283-A-C | c.1059+6147A>C | - | IntronicSNV | - | 3/7 | 3 |
5-32745752-C-A | c.1059+6616C>A | - | IntronicSNV | - | 3/7 | 1 |
5-32745752-C-T | c.1059+6616C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32746547-A-G | c.1059+7411A>G | - | IntronicSNV | - | 3/7 | 1 |
5-32748637-G-A | c.1059+9501G>A | - | IntronicSNV | - | 3/7 | 3 |
5-32749592-G-A | c.1059+10456G>A | - | IntronicSNV | - | 3/7 | 1 |
5-32750889-T-C | c.1059+11753T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32750983-T-A | c.1059+11847T>A | - | IntronicSNV | - | 3/7 | 2 |
5-32750983-T-C | c.1059+11847T>C | - | IntronicSNV | - | 3/7 | 2 |
5-32753672-T-A | c.1059+14536T>A | - | IntronicSNV | - | 3/7 | 3 |
5-32753672-T-C | c.1059+14536T>C | - | IntronicSNV | - | 3/7 | 3 |
5-32754032-T-G | c.1059+14896T>G | - | IntronicSNV | - | 3/7 | 1 |
5-32755589-T-C | c.1059+16453T>C | - | IntronicSNV | - | 3/7 | 2 |
5-32761429-C-T | c.1060-13385C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32765457-C-A | c.1060-9357C>A | - | IntronicSNV | - | 3/7 | 1 |
5-32765457-C-T | c.1060-9357C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32765489-C-A | c.1060-9325C>A | - | IntronicSNV | - | 3/7 | 1 |
5-32766097-C-A | c.1060-8717C>A | - | IntronicSNV | - | 3/7 | 1 |
5-32766097-C-G | c.1060-8717C>G | - | IntronicSNV | - | 3/7 | 1 |
5-32766097-C-T | c.1060-8717C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32766822-T-C | c.1060-7992T>C | - | IntronicSNV | - | 3/7 | 1 |
5-32767727-A-G | c.1060-7087A>G | - | IntronicSNV | - | 3/7 | 2 |
5-32768634-A-G | c.1060-6180A>G | - | IntronicSNV | - | 3/7 | 2 |
5-32771379-A-G | c.1060-3435A>G | - | IntronicSNV | - | 3/7 | 1 |
5-32771938-A-G | c.1060-2876A>G | - | IntronicSNV | - | 3/7 | 1 |
5-32772043-A-G | c.1060-2771A>G | - | IntronicSNV | - | 3/7 | 2 |
5-32773275-A-G | c.1060-1539A>G | - | IntronicSNV | - | 3/7 | 1 |
5-32774737-C-T | c.1060-77C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32774789-C-T | c.1060-25C>T | - | IntronicSNV | - | 3/7 | 1 |
5-32774814-G-T | c.1060G>T | p.V354F | Missense | 4/8 | - | 3 |
5-32774815-T-A | c.1061T>A | p.V354D | Missense | 4/8 | - | 1 |
5-32774815-T-C | c.1061T>C | p.V354A | Missense | 4/8 | - | 2 |
5-32774815-T-G | c.1061T>G | p.V354G | Missense | 4/8 | - | 1 |
5-32774819-C-T | c.1065C>T | p.N355= | Synonymous | 4/8 | - | 1 |
5-32774820-A-G | c.1066A>G | p.M356V | Missense | 4/8 | - | 1 |
5-32774825-T-C | c.1071T>C | p.F357= | Synonymous | 4/8 | - | 1 |
5-32774829-G-A | c.1075G>A | p.E359K | Missense | 4/8 | - | 1 |
5-32774829-G-C | c.1075G>C | p.E359Q | Missense | 4/8 | - | 2 |
5-32774833-G-A | c.1079G>A | p.G360E | Missense | 4/8 | - | 1 |
5-32774833-G-C | c.1079G>C | p.G360A | Missense | 4/8 | - | 2 |
5-32774833-G-T | c.1079G>T | p.G360V | Missense | 4/8 | - | 1 |
5-32774834-A-C | c.1080A>C | p.G360= | Synonymous | 4/8 | - | 1 |
5-32774834-A-G | c.1080A>G | p.G360= | Synonymous | 4/8 | - | 1 |
5-32774834-A-T | c.1080A>T | p.G360= | Synonymous | 4/8 | - | 1 |
5-32774837-C-T | c.1083C>T | p.F361= | Synonymous | 4/8 | - | 1 |
5-32774840-C-T | c.1086C>T | p.H362= | Synonymous | 4/8 | - | 4 |
5-32774841-G-A | c.1087G>A | p.D363N | Missense | 4/8 | - | 6 |
5-32774842-A-T | c.1088A>T | p.D363V | Missense | 4/8 | - | 2 |
5-32774844-G-A | c.1090G>A | p.A364T | Missense | 4/8 | - | 1 |
5-32774844-G-T | c.1090G>T | p.A364S | Missense | 4/8 | - | 1 |
5-32774849-C-A | c.1095C>A | p.I365= | Synonymous | 4/8 | - | 1 |
5-32774849-C-T | c.1095C>T | p.I365= | Synonymous | 4/8 | - | 1 |
5-32774851-T-C | c.1097T>C | p.L366P | Missense | 4/8 | - | 1 |
5-32774852-C-T | c.1098C>T | p.L366= | Synonymous | 4/8 | - | 2 |
5-32774855-C-G | c.1101C>G | p.L367= | Synonymous | 4/8 | - | 3 |
5-32774857-A-G | c.1103A>G | p.Y368C | Missense | 4/8 | - | 1 |
5-32774858-C-A | c.1104C>A | p.Y368* | Nonsense | 4/8 | - | 1 |
5-32774858-C-G | c.1104C>G | p.Y368* | Nonsense | 4/8 | - | 1 |
5-32774858-C-T | c.1104C>T | p.Y368= | Synonymous | 4/8 | - | 2 |
5-32774859-G-A | c.1105G>A | p.V369I | Missense | 4/8 | - | 6 |
5-32774863-T-G | c.1109T>G | p.L370W | Missense | 4/8 | - | 1 |
5-32774868-C-G | c.1114C>G | p.L372V | Missense | 4/8 | - | 1 |
5-32774874-G-A | c.1120G>A | p.E374K | Missense | 4/8 | - | 3 |
5-32774874-G-T | c.1120G>T | p.E374* | Nonsense | 4/8 | - | 1 |
5-32774884-G-T | c.1130G>T | p.R377I | Missense | 4/8 | - | 1 |
5-32774886-G-A | c.1132G>A | p.A378T | Missense | 4/8 | - | 1 |
5-32774890-G-T | c.1136G>T | p.G379V | Missense | 4/8 | - | 1 |
5-32774893-A-C | c.1139A>C | p.Y380S | Missense | 4/8 | - | 1 |
5-32774895-A-C | c.1141A>C | p.S381R | Missense | 4/8 | - | 1 |
5-32774897-C-A | c.1143C>A | p.S381R | Missense | 4/8 | - | 1 |
5-32774897-C-G | c.1143C>G | p.S381R | Missense | 4/8 | - | 1 |
5-32774897-C-T | c.1143C>T | p.S381= | Synonymous | 4/8 | - | 1 |
5-32774898-A-G | c.1144A>G | p.K382E | Missense | 4/8 | - | 1 |
5-32774901-A-G | c.1147A>G | p.K383E | Missense | 4/8 | - | 1 |
5-32774912-G-A | c.1158G>A | p.G386= | Synonymous | 4/8 | - | 4 |
5-32774912-G-T | c.1158G>T | p.G386= | Synonymous | 4/8 | - | 1 |
5-32774916-A-G | c.1162A>G | p.I388V | Missense | 4/8 | - | 5 |
5-32774917-T-G | c.1163T>G | p.I388S | Missense | 4/8 | - | 1 |
5-32774923-A-G | c.1169A>G | p.Q390R | Missense | 4/8 | - | 1 |
5-32774923-A-T | c.1169A>T | p.Q390L | Missense | 4/8 | - | 1 |
5-32774925-C-A | c.1171C>A | p.Q391K | Missense | 4/8 | - | 1 |
5-32774927-G-A | c.1173G>A | p.Q391= | Synonymous | 4/8 | - | 1 |
5-32774933-G-C | c.1179G>C | p.W393C | Missense | 4/8 | - | 1 |
5-32774933-G-T | c.1179G>T | p.W393C | Missense | 4/8 | - | 3 |
5-32774937-AGA-TGT | c.1183_1185delinsTGT | p.R395C | Missense | 4/8 | - | 1 |
5-32774938-G-A | c.1184G>A | p.R395K | Missense | 4/8 | - | 3 |
5-32774938-G-T | c.1184G>T | p.R395I | Missense | 4/8 | - | 4 |
5-32774949-G-A | c.1195G>A | p.G399S | Missense | 4/8 | - | 1 |
5-32774995-G-A | c.1195+46G>A | - | IntronicSNV | - | 4/7 | 1 |
5-32775047-G-A | c.1195+98G>A | - | IntronicSNV | - | 4/7 | 6 |
5-32775047-G-T | c.1195+98G>T | - | IntronicSNV | - | 4/7 | 7 |
5-32775261-G-A | c.1195+312G>A | - | IntronicSNV | - | 4/7 | 1 |
5-32775309-A-G | c.1195+360A>G | - | IntronicSNV | - | 4/7 | 1 |
5-32776015-T-A | c.1195+1066T>A | - | IntronicSNV | - | 4/7 | 1 |
5-32780708-T-G | c.1196-120T>G | - | IntronicSNV | - | 4/7 | 1 |
5-32780828-G-A | c.1196G>A | p.G399D | Missense | 5/8 | - | 1 |
5-32780832-C-A | c.1200C>A | p.I400= | Synonymous | 5/8 | - | 1 |
5-32780832-C-T | c.1200C>T | p.I400= | Synonymous | 5/8 | - | 2 |
5-32780835-C-A | c.1203C>A | p.A401= | Synonymous | 5/8 | - | 1 |
5-32780835-C-G | c.1203C>G | p.A401= | Synonymous | 5/8 | - | 1 |
5-32780835-C-T | c.1203C>T | p.A401= | Synonymous | 5/8 | - | 4 |
5-32780837-G-A | c.1205G>A | p.G402E | Missense | 5/8 | - | 1 |
5-32780839-C-A | c.1207C>A | p.Q403K | Missense | 5/8 | - | 1 |
5-32780843-T-A | c.1211T>A | p.V404E | Missense | 5/8 | - | 4 |
5-32780845-GTCC-G | c.1213_1215del | p.S405del | InFrameDeletion | 5/8 | - | 2 |
5-32780845-TC-AT | c.1213_1214delinsAT | p.S405I | Missense | 5/8 | - | 1 |
5-32780846-C-T | c.1214C>T | p.S405F | Missense | 5/8 | - | 1 |
5-32780847-C-A | c.1215C>A | p.S405= | Synonymous | 5/8 | - | 2 |
5-32780847-C-T | c.1215C>T | p.S405= | Synonymous | 5/8 | - | 1 |
5-32780858-A-G | c.1226A>G | p.N409S | Missense | 5/8 | - | 1 |
5-32780860-G-A | c.1228G>A | p.G410R | Missense | 5/8 | - | 2 |
5-32780860-G-C | c.1228G>C | p.G410R | Missense | 5/8 | - | 2 |
5-32780862-AGACC-A | c.1233_1236del | p.R412Mfs*6 | Frameshift | 5/8 | - | 1 |
5-32780866-C-T | c.1234C>T | p.R412* | Nonsense | 5/8 | - | 4 |
5-32780867-G-A | c.1235G>A | p.R412Q | Missense | 5/8 | - | 1 |
5-32780871-T-C | c.1239T>C | p.Y413= | Synonymous | 5/8 | - | 2 |
5-32780872-G-A | c.1240G>A | p.G414R | Missense | 5/8 | - | 4 |
5-32780872-G-C | c.1240G>C | p.G414R | Missense | 5/8 | - | 4 |
5-32780872-GGG-AGC | c.1240_1242delinsAGC | p.G414S | Missense | 5/8 | - | 1 |
5-32780875-G-A | c.1243G>A | p.D415N | Missense | 5/8 | - | 3 |
5-32780878-T-C | c.1246T>C | p.F416L | Missense | 5/8 | - | 1 |
5-32780880-C-G | c.1248C>G | p.F416L | Missense | 5/8 | - | 1 |
5-32780879-T-C | c.1247T>C | p.F416S | Missense | 5/8 | - | 1 |
5-32780880-C-A | c.1248C>A | p.F416L | Missense | 5/8 | - | 2 |
5-32780886-G-A | c.1254G>A | p.V418= | Synonymous | 5/8 | - | 2 |
5-32780886-G-C | c.1254G>C | p.V418= | Synonymous | 5/8 | - | 1 |
5-32780886-G-T | c.1254G>T | p.V418= | Synonymous | 5/8 | - | 1 |
5-32780897-C-T | c.1265C>T | p.T422I | Missense | 5/8 | - | 5 |
5-32780905-G-T | c.1273G>T | p.E425* | Nonsense | 5/8 | - | 1 |
5-32780908-G-C | c.1276G>C | p.A426P | Missense | 5/8 | - | 4 |
5-32780908-G-T | c.1276G>T | p.A426S | Missense | 5/8 | - | 3 |
5-32780909-C-T | c.1277C>T | p.A426V | Missense | 5/8 | - | 1 |
5-32780913-C-T | c.1281C>T | p.G427= | Synonymous | 5/8 | - | 1 |
5-32780914-A-T | c.1282A>T | p.T428S | Missense | 5/8 | - | 1 |
5-32780920-G-A | c.1288G>A | p.E430K | Missense | 5/8 | - | 3 |
5-32781002-A-T | c.1290+80A>T | - | IntronicSNV | - | 5/7 | 1 |
5-32781019-A-T | c.1290+97A>T | - | IntronicSNV | - | 5/7 | 1 |
5-32781196-T-G | c.1290+274T>G | - | IntronicSNV | - | 5/7 | 1 |
5-32782152-C-A | c.1291-847C>A | - | IntronicSNV | - | 5/7 | 1 |
5-32782889-C-T | c.1291-110C>T | - | IntronicSNV | - | 5/7 | 1 |
5-32782940-C-T | c.1291-59C>T | - | IntronicSNV | - | 5/7 | 1 |
5-32782999-G-T | c.1291G>T | p.V431F | Missense | 6/8 | - | 1 |
5-32783002-A-G | c.1294A>G | p.I432V | Missense | 6/8 | - | 3 |
5-32783002-A-T | c.1294A>T | p.I432F | Missense | 6/8 | - | 1 |
5-32783006-G-T | c.1298G>T | p.G433V | Missense | 6/8 | - | 2 |
5-32783017-G-A | c.1309G>A | p.G437R | Missense | 6/8 | - | 1 |
5-32783018-G-A | c.1310G>A | p.G437E | Missense | 6/8 | - | 3 |
5-32783018-G-T | c.1310G>T | p.G437V | Missense | 6/8 | - | 1 |
5-32783022-A-G | c.1314A>G | p.K438= | Synonymous | 6/8 | - | 1 |
5-32783024-A-G | c.1316A>G | p.E439G | Missense | 6/8 | - | 2 |
5-32783029-C-G | c.1321C>G | p.R441G | Missense | 6/8 | - | 1 |
5-32783029-C-T | c.1321C>T | p.R441C | Missense | 6/8 | - | 5 |
5-32783030-G-A | c.1322G>A | p.R441H | Missense | 6/8 | - | 2 |
5-32783032-T-C | c.1324T>C | p.F442L | Missense | 6/8 | - | 1 |
5-32783032-TT-GC | c.1324_1325delinsGC | p.F442A | Missense | 6/8 | - | 2 |
5-32783035-G-A | c.1327G>A | p.E443K | Missense | 6/8 | - | 1 |
5-32783039-T-A | c.1331T>A | p.M444K | Missense | 6/8 | - | 1 |
5-32783041-C-T | c.1333C>T | p.R445W | Missense | 6/8 | - | 1 |
5-32783045-C-T | c.1337C>T | p.P446L | Missense | 6/8 | - | 1 |
5-32783059-C-T | c.1351C>T | p.P451S | Missense | 6/8 | - | 3 |
5-32783061-T-C | c.1353T>C | p.P451= | Synonymous | 6/8 | - | 1 |
5-32783062-T-A | c.1354T>A | p.W452R | Missense | 6/8 | - | 1 |
5-32783062-T-C | c.1354T>C | p.W452R | Missense | 6/8 | - | 1 |
5-32783065-G-T | c.1357G>T | p.G453C | Missense | 6/8 | - | 1 |
5-32783066-G-A | c.1358G>A | p.G453D | Missense | 6/8 | - | 1 |
5-32783069-C-A | c.1361C>A | p.P454H | Missense | 6/8 | - | 1 |
5-32783071-TTA-GAC | c.1363_1365delinsGAC | p.L455D | Missense | 6/8 | - | 1 |
5-32783095-C-G | c.1387C>G | p.R463G | Missense | 6/8 | - | 2 |
5-32783096-G-A | c.1388G>A | p.R463Q | Missense | 6/8 | - | 8 |
5-32783096-G-T | c.1388G>T | p.R463L | Missense | 6/8 | - | 1 |
5-32783106-G-A | c.1398G>A | p.E466= | Synonymous | 6/8 | - | 2 |
5-32783106-G-C | c.1398G>C | p.E466D | Missense | 6/8 | - | 1 |
5-32783116-A-T | c.1408A>T | p.S470C | Missense | 6/8 | - | 1 |
5-32783123-C-T | c.1415C>T | p.P472L | Missense | 6/8 | - | 2 |
5-32783124-C-A | c.1416C>A | p.P472= | Synonymous | 6/8 | - | 1 |
5-32783124-C-G | c.1416C>G | p.P472= | Synonymous | 6/8 | - | 1 |
5-32783124-C-T | c.1416C>T | p.P472= | Synonymous | 6/8 | - | 1 |
5-32783126-G-A | c.1418G>A | p.C473Y | Missense | 6/8 | - | 1 |
5-32783126-G-T | c.1418G>T | p.C473F | Missense | 6/8 | - | 2 |
5-32783132-C-A | c.1424C>A | p.S475* | Nonsense | 6/8 | - | 1 |
5-32783830-T-C | c.1426+696T>C | - | IntronicSNV | - | 6/7 | 1 |
5-32784776-A-G | c.1427-126A>G | - | IntronicSNV | - | 6/7 | 3 |
5-32784903-A-C | c.1428A>C | p.S476= | Synonymous | 7/8 | - | 1 |
5-32784903-A-G | c.1428A>G | p.S476= | Synonymous | 7/8 | - | 1 |
5-32784903-A-T | c.1428A>T | p.S476= | Synonymous | 7/8 | - | 2 |
5-32784904-G-A | c.1429G>A | p.G477S | Missense | 7/8 | - | 4 |
5-32784907-G-A | c.1432G>A | p.G478S | Missense | 7/8 | - | 6 |
5-32784914-A-G | c.1439A>G | p.E480G | Missense | 7/8 | - | 1 |
5-32784921-G-A | c.1446G>A | p.S482= | Synonymous | 7/8 | - | 3 |
5-32784921-G-C | c.1446G>C | p.S482= | Synonymous | 7/8 | - | 2 |
5-32784921-G-T | c.1446G>T | p.S482= | Synonymous | 7/8 | - | 2 |
5-32784925-G-A | c.1450G>A | p.V484M | Missense | 7/8 | - | 1 |
5-32784934-A-C | c.1459A>C | p.I487L | Missense | 7/8 | - | 1 |
5-32784940-G-C | c.1465G>C | p.V489L | Missense | 7/8 | - | 2 |
5-32784940-G-T | c.1465G>T | p.V489L | Missense | 7/8 | - | 3 |
5-32784951-A-T | c.1476A>T | p.L492F | Missense | 7/8 | - | 1 |
5-32784961-G-A | c.1486G>A | p.G496S | Missense | 7/8 | - | 3 |
5-32784963-C-A | c.1488C>A | p.G496= | Synonymous | 7/8 | - | 1 |
5-32784974-C-T | c.1499C>T | p.A500V | Missense | 7/8 | - | 2 |
5-32784991-T-C | c.1514+2T>C | - | IntronicSNV | - | 7/7 | 1 |
5-32784997-C-T | c.1514+8C>T | - | IntronicSNV | - | 7/7 | 1 |
5-32785097-G-A | c.1514+108G>A | - | IntronicSNV | - | 7/7 | 1 |
5-32786340-G-A | c.1515G>A | p.R505= | Synonymous | 8/8 | - | 1 |
5-32786349-AC-A | c.1524del | p.Y508* | Frameshift | 8/8 | - | 2 |
5-32786351-G-C | c.1526G>C | p.R509T | Missense | 8/8 | - | 1 |
5-32786350-A-C | c.1525A>C | p.R509= | Synonymous | 8/8 | - | 1 |
5-32786352-A-G | c.1527A>G | p.R509= | Synonymous | 8/8 | - | 1 |
5-32786354-T-A | c.1529T>A | p.I510K | Missense | 8/8 | - | 1 |
5-32786356-A-T | c.1531A>T | p.T511S | Missense | 8/8 | - | 1 |
5-32786357-C-G | c.1532C>G | p.T511S | Missense | 8/8 | - | 1 |
5-32786360-T-C | c.1535T>C | p.I512T | Missense | 8/8 | - | 1 |
5-32786365-AGG-CAT | c.1540_1542delinsCAT | p.R514H | Missense | 8/8 | - | 1 |
5-32786366-G-T | c.1541G>T | p.R514M | Missense | 8/8 | - | 5 |
5-32786369-G-A | c.1544G>A | p.R515Q | Missense | 8/8 | - | 3 |
5-32786373-C-T | c.1548C>T | p.T516= | Synonymous | 8/8 | - | 1 |
5-32786388-T-G | c.1563T>G | p.S521R | Missense | 8/8 | - | 2 |
5-32786389-A-C | c.1564A>C | p.N522H | Missense | 8/8 | - | 14 |
5-32786389-A-G | c.1564A>G | p.N522D | Missense | 8/8 | - | 27 |
5-32786389-A-T | c.1564A>T | p.N522Y | Missense | 8/8 | - | 14 |
5-32786391-C-T | c.1566C>T | p.N522= | Synonymous | 8/8 | - | 1 |
5-32786392-C-T | c.1567C>T | p.L523F | Missense | 8/8 | - | 1 |
5-32786396-G-A | c.1571G>A | p.G524E | Missense | 8/8 | - | 1 |
5-32786405-G-A | c.1580G>A | p.R527Q | Missense | 8/8 | - | 1 |
5-32786405-G-C | c.1580G>C | p.R527P | Missense | 8/8 | - | 1 |
5-32786405-G-T | c.1580G>T | p.R527L | Missense | 8/8 | - | 1 |
5-32786407-G-A | c.1582G>A | p.E528K | Missense | 8/8 | - | 3 |
5-32786413-CGG-AGC | c.1588_1590delinsAGC | p.R530S | Missense | 8/8 | - | 1 |
5-32786413-C-T | c.1588C>T | p.R530W | Missense | 8/8 | - | 7 |
5-32786414-G-A | c.1589G>A | p.R530Q | Missense | 8/8 | - | 1 |
5-32786414-G-C | c.1589G>C | p.R530P | Missense | 8/8 | - | 7 |
5-32786415-G-GT | c.1590_1591insT | p.E531* | Nonsense | 8/8 | - | 1 |
5-32786416-G-T | c.1591G>T | p.E531* | Nonsense | 8/8 | - | 1 |
5-32786423-C-T | c.1598C>T | p.S533F | Missense | 8/8 | - | 2 |
5-32786427-C-A | c.1602C>A | p.I534= | Synonymous | 8/8 | - | 1 |
5-32786430-A-G | c.1605A>G | p.R535= | Synonymous | 8/8 | - | 1 |
5-32786432-C-CT | c.1607_1608insT | p.H537Pfs*41 | Frameshift | 8/8 | - | 1 |
5-32786431-TCC-T | c.1608_1609del | p.H537Ffs*40 | Frameshift | 8/8 | - | 1 |
5-32786434-C-A | c.1609C>A | p.H537N | Missense | 8/8 | - | 5 |
5-32786434-C-T | c.1609C>T | p.H537Y | Missense | 8/8 | - | 1 |
5-32786437-T-A | c.1612T>A | p.F538I | Missense | 8/8 | - | 1 |
5-32786440-T-A | c.1615T>A | p.S539T | Missense | 8/8 | - | 1 |
5-32788045-T-G | c.*1594T>G | - | 3-UTRSNV | 8/8 | - | 1 |
5-32788184-C-G | c.*1733C>G | - | 3-UTRSNV | 8/8 | - | 1 |
5-32788184-C-T | c.*1733C>T | - | 3-UTRSNV | 8/8 | - | 1 |
5-32788369-G-A | c.*1918G>A | - | 3-UTRSNV | 8/8 | - | 2 |
5-32788696-G-A | c.*2245G>A | - | 3-UTRSNV | 8/8 | - | 1 |
5-32789392-G-A | c.*2941G>A | - | 3-UTRSNV | 8/8 | - | 4 |
5-32789392-G-C | c.*2941G>C | - | 3-UTRSNV | 8/8 | - | 4 |
5-32789573-C-T | c.*3122C>T | - | 3-UTRSNV | 8/8 | - | 1 |
5-32789659-G-T | c.*3208G>T | - | 3-UTRSNV | 8/8 | - | 1 |
5-32789852-T-C | c.*3401T>C | - | 3-UTRSNV | 8/8 | - | 13 |
5-32790114-G-A | c.*3663G>A | - | 3-UTRSNV | 8/8 | - | 1 |
5-32790616-T-C | c.*4165T>C | - | 3-UTRSNV | 8/8 | - | 3 |
5-32791253-T-G | c.*4802T>G | - | 3-UTRSNV | 8/8 | - | 1 |