Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
22-44319752-C-G | c.-40C>G | - | 5-UTRSNV | 1/9 | - | 1 |
22-44319810-G-T | c.19G>T | p.G7C | Missense | 1/9 | - | 1 |
22-44319822-TCC-GAG | c.31_33delinsGAG | p.S11E | Missense | 1/9 | - | 1 |
22-44319822-TC-GA | c.31_32inv | p.S11D | Missense | 1/9 | - | 1 |
22-44319822-T-G | c.31T>G | p.S11A | Missense | 1/9 | - | 3 |
22-44319823-C-G | c.32C>G | p.S11C | Missense | 1/9 | - | 2 |
22-44319828-GCG-TGT | c.37_39delinsTGT | p.A13C | Missense | 1/9 | - | 1 |
22-44319837-G-C | c.46G>C | p.G16R | Missense | 1/9 | - | 1 |
22-44319847-G-C | c.56G>C | p.G19A | Missense | 1/9 | - | 1 |
22-44319858-G-A | c.67G>A | p.V23I | Missense | 1/9 | - | 1 |
22-44319865-C-A | c.74C>A | p.A25E | Missense | 1/9 | - | 1 |
22-44319873-TGC-GAG | c.82_84delinsGAG | p.C28E | Missense | 1/9 | - | 1 |
22-44319876-CTG-ATC | c.85_87delinsATC | p.L29I | Missense | 1/9 | - | 1 |
22-44319885-C-T | c.94C>T | p.H32Y | Missense | 1/9 | - | 1 |
22-44319925-G-A | c.134G>A | p.G45D | Missense | 1/9 | - | 1 |
22-44319930-T-G | c.139T>G | p.S47A | Missense | 1/9 | - | 15 |
22-44319934-CC-AG | c.143_144delinsAG | p.A48E | Missense | 1/9 | - | 1 |
22-44319950-C-G | c.159C>G | p.C53W | Missense | 1/9 | - | 1 |
22-44322841-CTT-ATG | c.214_216delinsATG | p.L72M | Missense | 2/9 | - | 1 |
22-44322862-C-T | c.235C>T | p.R79W | Missense | 2/9 | - | 1 |
22-44322883-C-T | c.256C>T | p.P86S | Missense | 2/9 | - | 1 |
22-44322901-A-G | c.274A>G | p.K92E | Missense | 2/9 | - | 1 |
22-44322909-C-A | c.282C>A | p.L94= | Synonymous | 2/9 | - | 1 |
22-44322909-C-G | c.282C>G | p.L94= | Synonymous | 2/9 | - | 1 |
22-44322909-C-T | c.282C>T | p.L94= | Synonymous | 2/9 | - | 1 |
22-44322922-T-A | c.295T>A | p.C99S | Missense | 2/9 | - | 1 |
22-44322922-T-C | c.295T>C | p.C99R | Missense | 2/9 | - | 1 |
22-44322922-T-G | c.295T>G | p.C99G | Missense | 2/9 | - | 2 |
22-44322943-G-A | c.316G>A | p.V106I | Missense | 2/9 | - | 1 |
22-44322946-C-A | c.319C>A | p.H107N | Missense | 2/9 | - | 1 |
22-44322955-A-C | c.328A>C | p.I110L | Missense | 2/9 | - | 1 |
22-44322970-G-T | c.343G>T | p.G115C | Missense | 2/9 | - | 3 |
22-44323006-G-A | c.379G>A | p.V127I | Missense | 2/9 | - | 1 |
22-44323025-G-A | c.398G>A | p.R133Q | Missense | 2/9 | - | 2 |
22-44323042-G-A | c.415G>A | p.V139M | Missense | 2/9 | - | 1 |
22-44323042-G-T | c.415G>T | p.V139L | Missense | 2/9 | - | 1 |
22-44323048-G-A | c.420+1G>A | - | IntronicSNV | - | 2/8 | 1 |
22-44323070-C-T | c.420+23C>T | - | IntronicSNV | - | 2/8 | 1 |
22-44323074-G-A | c.420+27G>A | - | IntronicSNV | - | 2/8 | 2 |
22-44323219-A-C | c.420+172A>C | - | IntronicSNV | - | 2/8 | 1 |
22-44323219-A-G | c.420+172A>G | - | IntronicSNV | - | 2/8 | 1 |
22-44323955-T-A | c.421-749T>A | - | IntronicSNV | - | 2/8 | 3 |
22-44323955-T-C | c.421-749T>C | - | IntronicSNV | - | 2/8 | 3 |
22-44323955-T-G | c.421-749T>G | - | IntronicSNV | - | 2/8 | 3 |
22-44324104-C-T | c.421-600C>T | - | IntronicSNV | - | 2/8 | 1 |
22-44324181-G-A | c.421-523G>A | - | IntronicSNV | - | 2/8 | 1 |
22-44324676-A-G | c.421-28A>G | - | IntronicSNV | - | 2/8 | 11 |
22-44324718-C-T | c.435C>T | p.S145= | Synonymous | 3/9 | - | 1 |
22-44324725-AT-TG | c.442_443delinsTG | p.I148C | Missense | 3/9 | - | 1 |
22-44324727-C-A | c.444C>A | p.I148= | Synonymous | 3/9 | - | 1 |
22-44324727-C-G | c.444C>G | p.I148M | Missense | 3/9 | - | 1240 |
22-44324727-C-T | c.444C>T | p.I148= | Synonymous | 3/9 | - | 6 |
22-44324730-C-T | c.447C>T | p.P149= | Synonymous | 3/9 | - | 35 |
22-44324743-C-T | c.460C>T | p.L154F | Missense | 3/9 | - | 1 |
22-44324767-G-A | c.484G>A | p.V162M | Missense | 3/9 | - | 2 |
22-44324769-G-A | c.486G>A | p.V162= | Synonymous | 3/9 | - | 1 |
22-44324769-G-C | c.486G>C | p.V162= | Synonymous | 3/9 | - | 1 |
22-44324769-G-T | c.486G>T | p.V162= | Synonymous | 3/9 | - | 1 |
22-44324855-G-A | c.486+86G>A | - | IntronicSNV | - | 3/8 | 11 |
22-44325631-C-T | c.486+862C>T | - | IntronicSNV | - | 3/8 | 1 |
22-44325855-C-A | c.486+1086C>A | - | IntronicSNV | - | 3/8 | 1 |
22-44325996-G-A | c.486+1227G>A | - | IntronicSNV | - | 3/8 | 6 |
22-44325996-G-C | c.486+1227G>C | - | IntronicSNV | - | 3/8 | 6 |
22-44325996-G-T | c.486+1227G>T | - | IntronicSNV | - | 3/8 | 6 |
22-44327179-G-A | c.487-1579G>A | - | IntronicSNV | - | 3/8 | 1 |
22-44328043-T-C | c.487-715T>C | - | IntronicSNV | - | 3/8 | 3 |
22-44328730-G-A | c.487-28G>A | - | IntronicSNV | - | 3/8 | 13 |
22-44328791-C-T | c.520C>T | p.P174S | Missense | 4/9 | - | 1 |
22-44328812-A-G | c.541A>G | p.T181A | Missense | 4/9 | - | 1 |
22-44328820-C-T | c.549C>T | p.T183= | Synonymous | 4/9 | - | 1 |
22-44328832-C-G | c.561C>G | p.F187L | Missense | 4/9 | - | 1 |
22-44328832-C-T | c.561C>T | p.F187= | Synonymous | 4/9 | - | 1 |
22-44328845-G-A | c.574G>A | p.D192N | Missense | 4/9 | - | 2 |
22-44328854-C-T | c.583C>T | p.P195S | Missense | 4/9 | - | 1 |
22-44328860-GTC-ATG | c.589_591delinsATG | p.V197M | Missense | 4/9 | - | 1 |
22-44328899-CTC-TGG | c.628_630delinsTGG | p.L210W | Missense | 4/9 | - | 1 |
22-44328908-C-G | c.637C>G | p.R213G | Missense | 4/9 | - | 1 |
22-44328911-C-T | c.640C>T | p.L214F | Missense | 4/9 | - | 1 |
22-44328930-A-G | c.659A>G | p.Y220C | Missense | 4/9 | - | 2 |
22-44328933-TT-AA | c.662_663inv | p.L221Q | Missense | 4/9 | - | 1 |
22-44328951-T-C | c.680T>C | p.V227A | Missense | 4/9 | - | 4 |
22-44329078-C-A | c.696+111C>A | - | IntronicSNV | - | 4/8 | 4 |
22-44329078-C-T | c.696+111C>T | - | IntronicSNV | - | 4/8 | 4 |
22-44329275-G-A | c.696+308G>A | - | IntronicSNV | - | 4/8 | 1 |
22-44329275-G-T | c.696+308G>T | - | IntronicSNV | - | 4/8 | 1 |
22-44330031-C-T | c.697-455C>T | - | IntronicSNV | - | 4/8 | 1 |
22-44330128-T-C | c.697-358T>C | - | IntronicSNV | - | 4/8 | 1 |
22-44330128-T-G | c.697-358T>G | - | IntronicSNV | - | 4/8 | 1 |
22-44330481-C-A | c.697-5C>A | - | IntronicSNV | - | 4/8 | 1 |
22-44330490-T-C | c.701T>C | p.L234P | Missense | 5/9 | - | 1 |
22-44330522-G-C | c.733G>C | p.A245P | Missense | 5/9 | - | 1 |
22-44331060-G-A | c.757+514G>A | - | IntronicSNV | - | 5/8 | 1 |
22-44331060-G-C | c.757+514G>C | - | IntronicSNV | - | 5/8 | 1 |
22-44331943-G-A | c.758-988G>A | - | IntronicSNV | - | 5/8 | 1 |
22-44332570-G-A | c.758-361G>A | - | IntronicSNV | - | 5/8 | 42 |
22-44332653-C-G | c.758-278C>G | - | IntronicSNV | - | 5/8 | 4 |
22-44332878-C-A | c.758-53C>A | - | IntronicSNV | - | 5/8 | 1 |
22-44332878-C-G | c.758-53C>G | - | IntronicSNV | - | 5/8 | 1 |
22-44332878-C-T | c.758-53C>T | - | IntronicSNV | - | 5/8 | 1 |
22-44332951-C-T | c.778C>T | p.P260S | Missense | 6/9 | - | 1 |
22-44332955-GC-AG | c.782_783delinsAG | p.G261E | Missense | 6/9 | - | 1 |
22-44332972-G-A | c.799G>A | p.E267K | Missense | 6/9 | - | 1 |
22-44332988-A-T | c.815A>T | p.E272V | Missense | 6/9 | - | 1 |
22-44332999-C-G | c.826C>G | p.P276A | Missense | 6/9 | - | 1 |
22-44333065-GGA-TGT | c.892_894delinsTGT | p.G298C | Missense | 6/9 | - | 1 |
22-44333069-A-G | c.896A>G | p.D299G | Missense | 6/9 | - | 1 |
22-44333069-A-T | c.896A>T | p.D299V | Missense | 6/9 | - | 1 |
22-44333086-C-A | c.913C>A | p.L305M | Missense | 6/9 | - | 1 |
22-44333122-CTG-TTT | c.949_951delinsTTT | p.L317F | Missense | 6/9 | - | 1 |
22-44333135-C-T | c.962C>T | p.S321L | Missense | 6/9 | - | 1 |
22-44333172-A-G | c.979+20A>G | - | IntronicSNV | - | 6/8 | 6 |
22-44333694-T-G | c.979+542T>G | - | IntronicSNV | - | 6/8 | 23 |
22-44334842-T-C | c.980-1031T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44335744-T-C | c.980-129T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44335885-A-G | c.992A>G | p.E331G | Missense | 7/9 | - | 1 |
22-44335894-A-C | c.1001A>C | p.D334A | Missense | 7/9 | - | 1 |
22-44335894-A-G | c.1001A>G | p.D334G | Missense | 7/9 | - | 1 |
22-44335895-C-A | c.1002C>A | p.D334E | Missense | 7/9 | - | 1 |
22-44335895-C-G | c.1002C>G | p.D334E | Missense | 7/9 | - | 1 |
22-44335899-G-A | c.1006G>A | p.G336S | Missense | 7/9 | - | 1 |
22-44336001-C-T | c.1108C>T | p.Q370* | Nonsense | 7/9 | - | 1 |
22-44336098-T-C | c.1112+93T>C | - | IntronicSNV | - | 7/8 | 6 |
22-44336310-A-G | c.1112+305A>G | - | IntronicSNV | - | 7/8 | 1 |
22-44337533-G-A | c.1112+1528G>A | - | IntronicSNV | - | 7/8 | 2 |
22-44338134-T-C | c.1112+2129T>C | - | IntronicSNV | - | 7/8 | 6 |
22-44338134-T-G | c.1112+2129T>G | - | IntronicSNV | - | 7/8 | 6 |
22-44340618-A-G | c.1160A>G | p.Q387R | Missense | 8/9 | - | 1 |
22-44340642-C-G | c.1184C>G | p.T395S | Missense | 8/9 | - | 1 |
22-44340904-C-G | c.1217+229C>G | - | IntronicSNV | - | 8/8 | 8 |
22-44340904-C-T | c.1217+229C>T | - | IntronicSNV | - | 8/8 | 8 |
22-44341398-C-A | c.1218-636C>A | - | IntronicSNV | - | 8/8 | 1 |
22-44341398-C-T | c.1218-636C>T | - | IntronicSNV | - | 8/8 | 1 |
22-44341986-T-C | c.1218-48T>C | - | IntronicSNV | - | 8/8 | 1 |
22-44341986-T-G | c.1218-48T>G | - | IntronicSNV | - | 8/8 | 1 |
22-44342111-C-T | c.1295C>T | p.S432F | Missense | 9/9 | - | 1 |
22-44342116-A-G | c.1300A>G | p.K434E | Missense | 9/9 | - | 36 |
22-44342150-C-T | c.1334C>T | p.T445I | Missense | 9/9 | - | 1 |
22-44342153-C-T | c.1337C>T | p.P446L | Missense | 9/9 | - | 77 |
22-44342156-G-A | c.1340G>A | p.R447Q | Missense | 9/9 | - | 1 |
22-44342174-G-T | c.1358G>T | p.S453I | Missense | 9/9 | - | 39 |
22-44342175-C-G | c.1359C>G | p.S453R | Missense | 9/9 | - | 1 |
22-44342175-C-T | c.1359C>T | p.S453= | Synonymous | 9/9 | - | 1 |
22-44342180-A-G | c.1364A>G | p.N455S | Missense | 9/9 | - | 1 |
22-44342236-AGT-TGA | c.1420_1422delinsTGA | p.S474* | Nonsense | 9/9 | - | 1 |
22-44342313-C-G | c.*51C>G | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342313-C-T | c.*51C>T | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342325-C-T | c.*63C>T | - | 3-UTRSNV | 9/9 | - | 2 |
22-44342394-T-A | c.*132T>A | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342394-T-C | c.*132T>C | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342655-G-C | c.*393G>C | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342691-T-C | c.*429T>C | - | 3-UTRSNV | 9/9 | - | 1 |