Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
22-44319752-C-G | c.-40C>G | - | 5-UTRSNV | 1/9 | - | 1 |
22-44319797-C-T | c.6C>T | p.Y2= | Synonymous | 1/9 | - | 1 |
22-44319798-G-C | c.7G>C | p.D3H | Missense | 1/9 | - | 1 |
22-44319804-G-A | c.13G>A | p.E5K | Missense | 1/9 | - | 1 |
22-44319810-G-T | c.19G>T | p.G7C | Missense | 1/9 | - | 1 |
22-44319814-G-T | c.23G>T | p.W8L | Missense | 1/9 | - | 1 |
22-44319819-TT-CC | c.28_29delinsCC | p.L10P | Missense | 1/9 | - | 2 |
22-44319821-G-T | c.30G>T | p.L10F | 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 | - | 2 |
22-44319822-T-G | c.31T>G | p.S11A | Missense | 1/9 | - | 4 |
22-44319823-C-G | c.32C>G | p.S11C | Missense | 1/9 | - | 3 |
22-44319823-C-T | c.32C>T | p.S11F | Missense | 1/9 | - | 1 |
22-44319826-T-C | c.35T>C | p.F12S | Missense | 1/9 | - | 1 |
22-44319828-GC-CT | c.37_38delinsCT | p.A13L | Missense | 1/9 | - | 2 |
22-44319828-GCG-TGT | c.37_39delinsTGT | p.A13C | Missense | 1/9 | - | 1 |
22-44319830-G-A | c.39G>A | p.A13= | Synonymous | 1/9 | - | 1 |
22-44319830-G-C | c.39G>C | p.A13= | Synonymous | 1/9 | - | 1 |
22-44319830-G-T | c.39G>T | p.A13= | Synonymous | 1/9 | - | 1 |
22-44319832-G-T | c.41G>T | p.G14V | Missense | 1/9 | - | 2 |
22-44319836-C-T | c.45C>T | p.C15= | Synonymous | 1/9 | - | 1 |
22-44319837-G-C | c.46G>C | p.G16R | Missense | 1/9 | - | 1 |
22-44319840-T-C | c.49T>C | p.F17L | Missense | 1/9 | - | 1 |
22-44319842-C-A | c.51C>A | p.F17L | Missense | 1/9 | - | 1 |
22-44319842-C-G | c.51C>G | p.F17L | Missense | 1/9 | - | 1 |
22-44319842-C-T | c.51C>T | p.F17= | Synonymous | 1/9 | - | 1 |
22-44319847-G-C | c.56G>C | p.G19A | Missense | 1/9 | - | 1 |
22-44319852-T-C | c.61T>C | p.Y21H | Missense | 1/9 | - | 1 |
22-44319855-C-T | c.64C>T | p.H22Y | Missense | 1/9 | - | 2 |
22-44319858-G-A | c.67G>A | p.V23I | Missense | 1/9 | - | 2 |
22-44319858-G-C | c.67G>C | p.V23L | Missense | 1/9 | - | 1 |
22-44319860-C-T | c.69C>T | p.V23= | Synonymous | 1/9 | - | 1 |
22-44319861-G-T | c.70G>T | p.G24W | Missense | 1/9 | - | 1 |
22-44319865-C-A | c.74C>A | p.A25E | Missense | 1/9 | - | 2 |
22-44319865-CG-AC | c.74_75delinsAC | p.A25D | 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 |
22-44319877-T-C | c.86T>C | p.L29P | Missense | 1/9 | - | 1 |
22-44319874-GCCTGAGCGAGCACGCCCCGCACCT-G | c.87_110del | p.S30_L37del | InFrameDeletion | 1/9 | - | 1 |
22-44319876-C-T | c.85C>T | p.L29= | Synonymous | 1/9 | - | 2 |
22-44319878-G-A | c.87G>A | p.L29= | Synonymous | 1/9 | - | 4 |
22-44319878-G-C | c.87G>C | p.L29= | Synonymous | 1/9 | - | 2 |
22-44319878-G-T | c.87G>T | p.L29= | Synonymous | 1/9 | - | 2 |
22-44319880-G-A | c.89G>A | p.S30N | Missense | 1/9 | - | 1 |
22-44319880-G-C | c.89G>C | p.S30T | Missense | 1/9 | - | 1 |
22-44319882-G-C | c.91G>C | p.E31Q | Missense | 1/9 | - | 1 |
22-44319882-G-T | c.91G>T | p.E31* | Nonsense | 1/9 | - | 1 |
22-44319885-C-T | c.94C>T | p.H32Y | Missense | 1/9 | - | 1 |
22-44319901-T-A | c.110T>A | p.L37H | Missense | 1/9 | - | 1 |
22-44319903-C-G | c.112C>G | p.R38G | Missense | 1/9 | - | 1 |
22-44319904-G-A | c.113G>A | p.R38H | Missense | 1/9 | - | 1 |
22-44319905-C-A | c.114C>A | p.R38= | Synonymous | 1/9 | - | 1 |
22-44319905-C-G | c.114C>G | p.R38= | Synonymous | 1/9 | - | 1 |
22-44319905-C-T | c.114C>T | p.R38= | Synonymous | 1/9 | - | 1 |
22-44319906-G-T | c.115G>T | p.D39Y | Missense | 1/9 | - | 1 |
22-44319907-A-G | c.116A>G | p.D39G | Missense | 1/9 | - | 1 |
22-44319913-G-T | c.122G>T | p.R41L | Missense | 1/9 | - | 1 |
22-44319915-A-G | c.124A>G | p.M42V | Missense | 1/9 | - | 2 |
22-44319918-T-A | c.127T>A | p.L43M | Missense | 1/9 | - | 1 |
22-44319923-C-A | c.132C>A | p.F44L | Missense | 1/9 | - | 1 |
22-44319927-G-A | c.136G>A | p.A46T | Missense | 1/9 | - | 1 |
22-44319930-T-G | c.139T>G | p.S47A | Missense | 1/9 | - | 17 |
22-44319931-C-T | c.140C>T | p.S47L | Missense | 1/9 | - | 1 |
22-44319933-GCC-TAA | c.142_144delinsTAA | p.A48* | Nonsense | 1/9 | - | 1 |
22-44319934-CC-AG | c.143_144delinsAG | p.A48E | Missense | 1/9 | - | 1 |
22-44319935-C-A | c.144C>A | p.A48= | Synonymous | 1/9 | - | 1 |
22-44319936-G-T | c.145G>T | p.G49W | Missense | 1/9 | - | 1 |
22-44319946-A-G | c.155A>G | p.H52R | Missense | 1/9 | - | 1 |
22-44319950-C-G | c.159C>G | p.C53W | Missense | 1/9 | - | 1 |
22-44319951-G-C | c.160G>C | p.V54L | Missense | 1/9 | - | 1 |
22-44319953-C-T | c.162C>T | p.V54= | Synonymous | 1/9 | - | 1 |
22-44319955-G-A | c.164G>A | p.G55D | Missense | 1/9 | - | 1 |
22-44319958-T-C | c.167T>C | p.V56A | Missense | 1/9 | - | 2 |
22-44319960-C-T | c.169C>T | p.L57F | Missense | 1/9 | - | 1 |
22-44319964-C-T | c.173C>T | p.S58F | Missense | 1/9 | - | 1 |
22-44319967-GT-AG | c.176_177delinsAG | p.G59E | Missense | 1/9 | - | 1 |
22-44320199-G-A | c.187+221G>A | - | IntronicSNV | - | 1/8 | 1 |
22-44321641-G-A | c.188-1174G>A | - | IntronicSNV | - | 1/8 | 1 |
22-44322821-C-A | c.194C>A | p.T65N | Missense | 2/9 | - | 1 |
22-44322821-C-T | c.194C>T | p.T65I | Missense | 2/9 | - | 1 |
22-44322826-C-T | c.199C>T | p.Q67* | Nonsense | 2/9 | - | 3 |
22-44322827-A-G | c.200A>G | p.Q67R | Missense | 2/9 | - | 1 |
22-44322827-A-T | c.200A>T | p.Q67L | Missense | 2/9 | - | 3 |
22-44322828-G-C | c.201G>C | p.Q67H | Missense | 2/9 | - | 1 |
22-44322828-G-T | c.201G>T | p.Q67H | Missense | 2/9 | - | 1 |
22-44322834-C-A | c.207C>A | p.L69= | Synonymous | 2/9 | - | 1 |
22-44322834-C-G | c.207C>G | p.L69= | Synonymous | 2/9 | - | 1 |
22-44322834-C-T | c.207C>T | p.L69= | Synonymous | 2/9 | - | 1 |
22-44322836-C-G | c.209C>G | p.S70* | Nonsense | 2/9 | - | 1 |
22-44322841-CTT-ATG | c.214_216delinsATG | p.L72M | Missense | 2/9 | - | 1 |
22-44322843-T-C | c.216T>C | p.L72= | Synonymous | 2/9 | - | 2 |
22-44322846-G-T | c.219G>T | p.V73= | Synonymous | 2/9 | - | 1 |
22-44322848-G-A | c.221G>A | p.R74Q | Missense | 2/9 | - | 1 |
22-44322850-A-C | c.223A>C | p.K75Q | Missense | 2/9 | - | 1 |
22-44322859-AG-TT | c.232_233delinsTT | p.S78F | Missense | 2/9 | - | 1 |
22-44322860-G-T | c.233G>T | p.S78I | Missense | 2/9 | - | 2 |
22-44322862-C-T | c.235C>T | p.R79W | Missense | 2/9 | - | 2 |
22-44322869-T-G | c.242T>G | p.I81S | Missense | 2/9 | - | 1 |
22-44322872-G-A | c.245G>A | p.G82D | Missense | 2/9 | - | 1 |
22-44322874-A-G | c.247A>G | p.I83V | Missense | 2/9 | - | 2 |
22-44322883-C-T | c.256C>T | p.P86S | Missense | 2/9 | - | 1 |
22-44322890-T-C | c.263T>C | p.F88S | Missense | 2/9 | - | 1 |
22-44322897-TAAG-T | c.270_272del | p.L90_S91delinsF | MultiAAMissense | 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 |
22-44322910-C-T | c.283C>T | p.R95* | Nonsense | 2/9 | - | 4 |
22-44322911-G-A | c.284G>A | p.R95Q | Missense | 2/9 | - | 1 |
22-44322913-C-T | c.286C>T | p.Q96* | Nonsense | 2/9 | - | 1 |
22-44322914-A-G | c.287A>G | p.Q96R | Missense | 2/9 | - | 1 |
22-44322915-G-C | c.288G>C | p.Q96H | Missense | 2/9 | - | 1 |
22-44322915-G-T | c.288G>T | p.Q96H | Missense | 2/9 | - | 1 |
22-44322916-G-A | c.289G>A | p.G97S | Missense | 2/9 | - | 1 |
22-44322922-T-A | c.295T>A | p.C99S | Missense | 2/9 | - | 6 |
22-44322922-T-C | c.295T>C | p.C99R | Missense | 2/9 | - | 8 |
22-44322922-T-G | c.295T>G | p.C99G | Missense | 2/9 | - | 19 |
22-44322924-C-T | c.297C>T | p.C99= | Synonymous | 2/9 | - | 1 |
22-44322931-C-A | c.304C>A | p.L102I | Missense | 2/9 | - | 2 |
22-44322935-C-T | c.308C>T | p.P103L | Missense | 2/9 | - | 4 |
22-44322937-G-A | c.310G>A | p.A104T | Missense | 2/9 | - | 1 |
22-44322938-C-T | c.311C>T | p.A104V | Missense | 2/9 | - | 1 |
22-44322939-C-A | c.312C>A | p.A104= | Synonymous | 2/9 | - | 1 |
22-44322939-C-G | c.312C>G | p.A104= | Synonymous | 2/9 | - | 1 |
22-44322939-C-T | c.312C>T | p.A104= | Synonymous | 2/9 | - | 1 |
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 |
22-44322954-C-A | c.327C>A | p.L109= | Synonymous | 2/9 | - | 3 |
22-44322954-C-G | c.327C>G | p.L109= | Synonymous | 2/9 | - | 2 |
22-44322954-C-T | c.327C>T | p.L109= | Synonymous | 2/9 | - | 2 |
22-44322955-A-C | c.328A>C | p.I110L | Missense | 2/9 | - | 1 |
22-44322958-T-C | c.331T>C | p.S111P | Missense | 2/9 | - | 1 |
22-44322959-C-A | c.332C>A | p.S111Y | Missense | 2/9 | - | 3 |
22-44322960-C-T | c.333C>T | p.S111= | Synonymous | 2/9 | - | 1 |
22-44322961-G-A | c.334G>A | p.G112S | Missense | 2/9 | - | 5 |
22-44322966-A-C | c.339A>C | p.K113N | Missense | 2/9 | - | 1 |
22-44322966-A-T | c.339A>T | p.K113N | Missense | 2/9 | - | 1 |
22-44322967-A-G | c.340A>G | p.I114V | Missense | 2/9 | - | 1 |
22-44322970-G-T | c.343G>T | p.G115C | Missense | 2/9 | - | 20 |
22-44322971-G-A | c.344G>A | p.G115D | Missense | 2/9 | - | 1 |
22-44322972-C-A | c.345C>A | p.G115= | Synonymous | 2/9 | - | 2 |
22-44322972-C-G | c.345C>G | p.G115= | Synonymous | 2/9 | - | 2 |
22-44322972-C-T | c.345C>T | p.G115= | Synonymous | 2/9 | - | 2 |
22-44322977-C-A | c.350C>A | p.S117Y | Missense | 2/9 | - | 1 |
22-44322977-C-G | c.350C>G | p.S117C | Missense | 2/9 | - | 1 |
22-44322977-C-T | c.350C>T | p.S117F | Missense | 2/9 | - | 2 |
22-44322980-T-C | c.353T>C | p.L118P | Missense | 2/9 | - | 1 |
22-44322980-T-G | c.353T>G | p.L118R | Missense | 2/9 | - | 1 |
22-44322984-C-T | c.357C>T | p.T119= | Synonymous | 2/9 | - | 2 |
22-44322994-G-A | c.367G>A | p.D123N | Missense | 2/9 | - | 1 |
22-44322996-T-A | c.369T>A | p.D123E | Missense | 2/9 | - | 2 |
22-44322997-G-T | c.370G>T | p.G124W | Missense | 2/9 | - | 1 |
22-44322998-G-A | c.371G>A | p.G124E | Missense | 2/9 | - | 2 |
22-44323000-G-A | c.373G>A | p.E125K | Missense | 2/9 | - | 2 |
22-44323006-G-A | c.379G>A | p.V127I | Missense | 2/9 | - | 1 |
22-44323011-G-T | c.384G>T | p.L128= | Synonymous | 2/9 | - | 1 |
22-44323012-G-C | c.385G>C | p.V129L | Missense | 2/9 | - | 1 |
22-44323012-G-T | c.385G>T | p.V129L | Missense | 2/9 | - | 1 |
22-44323020-C-A | c.393C>A | p.D131E | Missense | 2/9 | - | 1 |
22-44323020-C-G | c.393C>G | p.D131E | Missense | 2/9 | - | 1 |
22-44323025-G-A | c.398G>A | p.R133Q | Missense | 2/9 | - | 3 |
22-44323026-G-T | c.399G>T | p.R133= | Synonymous | 2/9 | - | 2 |
22-44323027-TC-AA | c.400_401delinsAA | p.S134N | Missense | 2/9 | - | 1 |
22-44323028-CC-GT | c.401_402delinsGT | p.S134C | Missense | 2/9 | - | 1 |
22-44323028-C-G | c.401C>G | p.S134C | Missense | 2/9 | - | 4 |
22-44323033-G-T | c.406G>T | p.D136Y | Missense | 2/9 | - | 3 |
22-44323035-C-A | c.408C>A | p.D136E | Missense | 2/9 | - | 2 |
22-44323035-C-G | c.408C>G | p.D136E | Missense | 2/9 | - | 2 |
22-44323035-C-T | c.408C>T | p.D136= | Synonymous | 2/9 | - | 1 |
22-44323036-G-A | c.409G>A | p.E137K | Missense | 2/9 | - | 1 |
22-44323041-C-T | c.414C>T | p.V138= | Synonymous | 2/9 | - | 1 |
22-44323042-G-A | c.415G>A | p.V139M | Missense | 2/9 | - | 2 |
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 | 10 |
22-44323129-G-A | c.420+82G>A | - | IntronicSNV | - | 2/8 | 1 |
22-44323129-G-C | c.420+82G>C | - | IntronicSNV | - | 2/8 | 1 |
22-44323219-A-C | c.420+172A>C | - | IntronicSNV | - | 2/8 | 2 |
22-44323219-A-G | c.420+172A>G | - | IntronicSNV | - | 2/8 | 2 |
22-44323955-T-A | c.421-749T>A | - | IntronicSNV | - | 2/8 | 4 |
22-44323955-T-C | c.421-749T>C | - | IntronicSNV | - | 2/8 | 4 |
22-44323955-T-G | c.421-749T>G | - | IntronicSNV | - | 2/8 | 4 |
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 | 22 |
22-44324704-G-A | c.421G>A | p.A141T | Missense | 3/9 | - | 1 |
22-44324709-G-C | c.426G>C | p.L142F | Missense | 3/9 | - | 1 |
22-44324709-G-T | c.426G>T | p.L142F | Missense | 3/9 | - | 1 |
22-44324713-T-G | c.430T>G | p.C144G | Missense | 3/9 | - | 1 |
22-44324716-TC-CT | c.433_434delinsCT | p.S145L | Missense | 3/9 | - | 1 |
22-44324718-C-T | c.435C>T | p.S145= | Synonymous | 3/9 | - | 1 |
22-44324725-A-G | c.442A>G | p.I148V | Missense | 3/9 | - | 3 |
22-44324725-AT-TG | c.442_443delinsTG | p.I148C | Missense | 3/9 | - | 1 |
22-44324726-T-C | c.443T>C | p.I148T | Missense | 3/9 | - | 1 |
22-44324727-C-A | c.444C>A | p.I148= | Synonymous | 3/9 | - | 3 |
22-44324727-C-G | c.444C>G | p.I148M | Missense | 3/9 | - | 1210 |
22-44324727-C-T | c.444C>T | p.I148= | Synonymous | 3/9 | - | 12 |
22-44324728-C-G | c.445C>G | p.P149A | Missense | 3/9 | - | 1 |
22-44324729-C-T | c.446C>T | p.P149L | Missense | 3/9 | - | 1 |
22-44324730-C-A | c.447C>A | p.P149= | Synonymous | 3/9 | - | 1 |
22-44324730-C-G | c.447C>G | p.P149= | Synonymous | 3/9 | - | 1 |
22-44324730-C-T | c.447C>T | p.P149= | Synonymous | 3/9 | - | 55 |
22-44324736-C-A | c.453C>A | p.Y151* | Nonsense | 3/9 | - | 1 |
22-44324736-C-G | c.453C>G | p.Y151* | Nonsense | 3/9 | - | 2 |
22-44324738-G-A | c.455G>A | p.S152N | Missense | 3/9 | - | 1 |
22-44324738-G-T | c.455G>T | p.S152I | Missense | 3/9 | - | 1 |
22-44324740-G-A | c.457G>A | p.G153S | Missense | 3/9 | - | 1 |
22-44324741-G-A | c.458G>A | p.G153D | Missense | 3/9 | - | 1 |
22-44324743-C-T | c.460C>T | p.L154F | Missense | 3/9 | - | 1 |
22-44324747-T-C | c.464T>C | p.I155T | Missense | 3/9 | - | 1 |
22-44324748-C-G | c.465C>G | p.I155M | Missense | 3/9 | - | 1 |
22-44324752-C-T | c.469C>T | p.P157S | Missense | 3/9 | - | 1 |
22-44324756-C-T | c.473C>T | p.S158F | Missense | 3/9 | - | 1 |
22-44324757-C-T | c.474C>T | p.S158= | Synonymous | 3/9 | - | 1 |
22-44324760-C-A | c.477C>A | p.F159L | Missense | 3/9 | - | 1 |
22-44324761-AGA-TGT | c.478_480delinsTGT | p.R160C | Missense | 3/9 | - | 1 |
22-44324762-G-T | c.479G>T | p.R160I | Missense | 3/9 | - | 1 |
22-44324764-G-A | c.481G>A | p.G161S | Missense | 3/9 | - | 2 |
22-44324766-C-T | c.483C>T | p.G161= | Synonymous | 3/9 | - | 1 |
22-44324767-G-A | c.484G>A | p.V162M | Missense | 3/9 | - | 8 |
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 |
22-44324842-G-A | c.486+73G>A | - | IntronicSNV | - | 3/8 | 1 |
22-44324855-G-A | c.486+86G>A | - | IntronicSNV | - | 3/8 | 21 |
22-44325516-G-A | c.486+747G>A | - | IntronicSNV | - | 3/8 | 1 |
22-44325516-G-T | c.486+747G>T | - | IntronicSNV | - | 3/8 | 1 |
22-44325565-C-T | c.486+796C>T | - | IntronicSNV | - | 3/8 | 1 |
22-44325631-C-T | c.486+862C>T | - | IntronicSNV | - | 3/8 | 2 |
22-44325855-C-A | c.486+1086C>A | - | IntronicSNV | - | 3/8 | 1 |
22-44325996-G-A | c.486+1227G>A | - | IntronicSNV | - | 3/8 | 11 |
22-44325996-G-C | c.486+1227G>C | - | IntronicSNV | - | 3/8 | 11 |
22-44325996-G-T | c.486+1227G>T | - | IntronicSNV | - | 3/8 | 11 |
22-44326272-T-C | c.486+1503T>C | - | IntronicSNV | - | 3/8 | 1 |
22-44326700-C-T | c.486+1931C>T | - | IntronicSNV | - | 3/8 | 1 |
22-44327179-G-A | c.487-1579G>A | - | IntronicSNV | - | 3/8 | 1 |
22-44327192-A-G | c.487-1566A>G | - | IntronicSNV | - | 3/8 | 1 |
22-44327273-A-G | c.487-1485A>G | - | 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 | 24 |
22-44328758-C-T | c.487C>T | p.R163* | Nonsense | 4/9 | - | 2 |
22-44328764-G-A | c.493G>A | p.V165M | Missense | 4/9 | - | 1 |
22-44328772-A-C | c.501A>C | p.G167= | Synonymous | 4/9 | - | 1 |
22-44328772-A-G | c.501A>G | p.G167= | Synonymous | 4/9 | - | 1 |
22-44328772-A-T | c.501A>T | p.G167= | Synonymous | 4/9 | - | 1 |
22-44328777-T-C | c.506T>C | p.V169A | Missense | 4/9 | - | 1 |
22-44328779-A-C | c.508A>C | p.S170R | Missense | 4/9 | - | 1 |
22-44328781-T-A | c.510T>A | p.S170R | Missense | 4/9 | - | 1 |
22-44328781-T-G | c.510T>G | p.S170R | Missense | 4/9 | - | 1 |
22-44328788-G-A | c.517G>A | p.V173I | Missense | 4/9 | - | 2 |
22-44328791-C-T | c.520C>T | p.P174S | Missense | 4/9 | - | 2 |
22-44328793-C-A | c.522C>A | p.P174= | Synonymous | 4/9 | - | 3 |
22-44328793-C-G | c.522C>G | p.P174= | Synonymous | 4/9 | - | 2 |
22-44328793-C-T | c.522C>T | p.P174= | Synonymous | 4/9 | - | 2 |
22-44328797-A-C | c.526A>C | p.I176L | Missense | 4/9 | - | 1 |
22-44328798-T-C | c.527T>C | p.I176T | Missense | 4/9 | - | 1 |
22-44328800-G-T | c.529G>T | p.D177Y | Missense | 4/9 | - | 1 |
22-44328812-A-G | c.541A>G | p.T181A | Missense | 4/9 | - | 1 |
22-44328816-T-C | c.545T>C | p.I182T | Missense | 4/9 | - | 1 |
22-44328818-A-T | c.547A>T | p.T183S | Missense | 4/9 | - | 1 |
22-44328819-C-G | c.548C>G | p.T183S | Missense | 4/9 | - | 1 |
22-44328819-C-T | c.548C>T | p.T183I | Missense | 4/9 | - | 1 |
22-44328820-C-T | c.549C>T | p.T183= | Synonymous | 4/9 | - | 1 |
22-44328821-G-A | c.550G>A | p.V184M | Missense | 4/9 | - | 1 |
22-44328823-G-T | c.552G>T | p.V184= | Synonymous | 4/9 | - | 1 |
22-44328824-T-C | c.553T>C | p.S185P | Missense | 4/9 | - | 2 |
22-44328825-C-T | c.554C>T | p.S185F | Missense | 4/9 | - | 2 |
22-44328827-C-T | c.556C>T | p.P186S | Missense | 4/9 | - | 3 |
22-44328828-C-A | c.557C>A | p.P186H | Missense | 4/9 | - | 1 |
22-44328828-C-T | c.557C>T | p.P186L | Missense | 4/9 | - | 1 |
22-44328830-T-C | c.559T>C | p.F187L | Missense | 4/9 | - | 1 |
22-44328832-C-A | c.561C>A | p.F187L | Missense | 4/9 | - | 1 |
22-44328832-C-G | c.561C>G | p.F187L | Missense | 4/9 | - | 3 |
22-44328832-C-T | c.561C>T | p.F187= | Synonymous | 4/9 | - | 7 |
22-44328833-T-C | c.562T>C | p.Y188H | Missense | 4/9 | - | 1 |
22-44328835-T-TG | c.568dup | p.E190Gfs*7 | Frameshift | 4/9 | - | 1 |
22-44328839-G-A | c.568G>A | p.E190K | Missense | 4/9 | - | 2 |
22-44328845-G-A | c.574G>A | p.D192N | Missense | 4/9 | - | 4 |
22-44328850-C-G | c.579C>G | p.I193M | Missense | 4/9 | - | 1 |
22-44328851-T-C | c.580T>C | p.C194R | Missense | 4/9 | - | 2 |
22-44328851-T-G | c.580T>G | p.C194G | Missense | 4/9 | - | 1 |
22-44328853-C-T | c.582C>T | p.C194= | Synonymous | 4/9 | - | 2 |
22-44328854-C-T | c.583C>T | p.P195S | Missense | 4/9 | - | 1 |
22-44328855-C-T | c.584C>T | p.P195L | Missense | 4/9 | - | 2 |
22-44328860-G-T | c.589G>T | p.V197F | Missense | 4/9 | - | 1 |
22-44328860-GTC-ATG | c.589_591delinsATG | p.V197M | Missense | 4/9 | - | 1 |
22-44328870-C-T | c.599C>T | p.T200M | Missense | 4/9 | - | 2 |
22-44328871-G-A | c.600G>A | p.T200= | Synonymous | 4/9 | - | 4 |
22-44328871-G-C | c.600G>C | p.T200= | Synonymous | 4/9 | - | 2 |
22-44328871-G-T | c.600G>T | p.T200= | Synonymous | 4/9 | - | 2 |
22-44328879-T-A | c.608T>A | p.L203H | Missense | 4/9 | - | 1 |
22-44328887-G-A | c.616G>A | p.D206N | Missense | 4/9 | - | 1 |
22-44328889-C-A | c.618C>A | p.D206E | Missense | 4/9 | - | 1 |
22-44328889-C-G | c.618C>G | p.D206E | Missense | 4/9 | - | 1 |
22-44328892-C-T | c.621C>T | p.I207= | Synonymous | 4/9 | - | 1 |
22-44328893-A-G | c.622A>G | p.T208A | Missense | 4/9 | - | 4 |
22-44328896-A-G | c.625A>G | p.K209E | Missense | 4/9 | - | 1 |
22-44328899-C-T | c.628C>T | p.L210F | Missense | 4/9 | - | 2 |
22-44328899-CTC-TGG | c.628_630delinsTGG | p.L210W | Missense | 4/9 | - | 1 |
22-44328900-T-C | c.629T>C | p.L210P | Missense | 4/9 | - | 1 |
22-44328905-C-G | c.634C>G | p.L212V | Missense | 4/9 | - | 3 |
22-44328908-C-G | c.637C>G | p.R213G | Missense | 4/9 | - | 1 |
22-44328908-C-T | c.637C>T | p.R213C | Missense | 4/9 | - | 1 |
22-44328909-G-A | c.638G>A | p.R213H | Missense | 4/9 | - | 1 |
22-44328911-C-T | c.640C>T | p.L214F | Missense | 4/9 | - | 1 |
22-44328917-A-C | c.646A>C | p.T216P | Missense | 4/9 | - | 3 |
22-44328919-A-G | c.648A>G | p.T216= | Synonymous | 4/9 | - | 1 |
22-44328921-G-T | c.650G>T | p.G217V | Missense | 4/9 | - | 1 |
22-44328930-A-G | c.659A>G | p.Y220C | Missense | 4/9 | - | 6 |
22-44328933-TT-AA | c.662_663inv | p.L221Q | Missense | 4/9 | - | 1 |
22-44328939-C-T | c.668C>T | p.S223L | Missense | 4/9 | - | 1 |
22-44328940-G-A | c.669G>A | p.S223= | Synonymous | 4/9 | - | 1 |
22-44328950-G-A | c.679G>A | p.V227I | Missense | 4/9 | - | 1 |
22-44328951-T-C | c.680T>C | p.V227A | Missense | 4/9 | - | 6 |
22-44328952-C-A | c.681C>A | p.V227= | Synonymous | 4/9 | - | 2 |
22-44328952-C-G | c.681C>G | p.V227= | Synonymous | 4/9 | - | 2 |
22-44328952-C-T | c.681C>T | p.V227= | Synonymous | 4/9 | - | 2 |
22-44328953-C-T | c.682C>T | p.P228S | Missense | 4/9 | - | 7 |
22-44328954-C-T | c.683C>T | p.P228L | Missense | 4/9 | - | 1 |
22-44328955-C-A | c.684C>A | p.P228= | Synonymous | 4/9 | - | 1 |
22-44328955-C-G | c.684C>G | p.P228= | Synonymous | 4/9 | - | 1 |
22-44328955-C-T | c.684C>T | p.P228= | Synonymous | 4/9 | - | 3 |
22-44328951-TC-T | c.686del | p.P229Rfs*34 | Frameshift | 4/9 | - | 3 |
22-44328957-C-G | c.686C>G | p.P229R | Missense | 4/9 | - | 1 |
22-44328957-C-T | c.686C>T | p.P229L | Missense | 4/9 | - | 1 |
22-44328958-G-C | c.687G>C | p.P229= | Synonymous | 4/9 | - | 3 |
22-44328960-A-G | c.689A>G | p.D230G | Missense | 4/9 | - | 4 |
22-44328962-C-A | c.691C>A | p.L231I | Missense | 4/9 | - | 1 |
22-44328965-AA-GC | c.694_695delinsGC | p.K232A | Missense | 4/9 | - | 1 |
22-44329078-C-A | c.696+111C>A | - | IntronicSNV | - | 4/8 | 5 |
22-44329078-C-T | c.696+111C>T | - | IntronicSNV | - | 4/8 | 5 |
22-44329264-AT-A | c.696+306del | - | IntronicDeletion | - | 4/8 | 1 |
22-44329275-G-A | c.696+308G>A | - | IntronicSNV | - | 4/8 | 2 |
22-44329275-G-T | c.696+308G>T | - | IntronicSNV | - | 4/8 | 2 |
22-44330031-C-T | c.697-455C>T | - | IntronicSNV | - | 4/8 | 2 |
22-44330128-T-C | c.697-358T>C | - | IntronicSNV | - | 4/8 | 2 |
22-44330128-T-G | c.697-358T>G | - | IntronicSNV | - | 4/8 | 2 |
22-44330274-G-A | c.697-212G>A | - | IntronicSNV | - | 4/8 | 1 |
22-44330481-C-A | c.697-5C>A | - | IntronicSNV | - | 4/8 | 1 |
22-44330488-G-A | c.699G>A | p.V233= | Synonymous | 5/9 | - | 1 |
22-44330488-G-C | c.699G>C | p.V233= | Synonymous | 5/9 | - | 1 |
22-44330488-G-T | c.699G>T | p.V233= | Synonymous | 5/9 | - | 1 |
22-44330489-C-A | c.700C>A | p.L234M | Missense | 5/9 | - | 1 |
22-44330490-T-C | c.701T>C | p.L234P | Missense | 5/9 | - | 2 |
22-44330492-G-T | c.703G>T | p.G235* | Nonsense | 5/9 | - | 1 |
22-44330494-A-T | c.705A>T | p.G235= | Synonymous | 5/9 | - | 1 |
22-44330498-A-G | c.709A>G | p.I237V | Missense | 5/9 | - | 1 |
22-44330500-A-G | c.711A>G | p.I237M | Missense | 5/9 | - | 3 |
22-44330502-G-A | c.713G>A | p.C238Y | Missense | 5/9 | - | 1 |
22-44330507-CGA-TGT | c.718_720delinsTGT | p.R240C | Missense | 5/9 | - | 1 |
22-44330507-C-T | c.718C>T | p.R240* | Nonsense | 5/9 | - | 4 |
22-44330508-G-A | c.719G>A | p.R240Q | Missense | 5/9 | - | 1 |
22-44330510-G-A | c.721G>A | p.G241R | Missense | 5/9 | - | 1 |
22-44330510-G-C | c.721G>C | p.G241R | Missense | 5/9 | - | 1 |
22-44330515-T-A | c.726T>A | p.Y242* | Nonsense | 5/9 | - | 3 |
22-44330515-T-G | c.726T>G | p.Y242* | Nonsense | 5/9 | - | 1 |
22-44330522-G-C | c.733G>C | p.A245P | Missense | 5/9 | - | 1 |
22-44330532-T-G | c.743T>G | p.F248C | Missense | 5/9 | - | 1 |
22-44330533-C-T | c.744C>T | p.F248= | Synonymous | 5/9 | - | 2 |
22-44330535-T-G | c.746T>G | p.L249W | Missense | 5/9 | - | 1 |
22-44330536-G-A | c.747G>A | p.L249= | Synonymous | 5/9 | - | 1 |
22-44330537-G-A | c.748G>A | p.E250K | Missense | 5/9 | - | 1 |
22-44330537-G-T | c.748G>T | p.E250* | Nonsense | 5/9 | - | 1 |
22-44330540-G-C | c.751G>C | p.E251Q | Missense | 5/9 | - | 1 |
22-44330541-A-G | c.752A>G | p.E251G | Missense | 5/9 | - | 1 |
22-44330542-G-C | c.753G>C | p.E251D | Missense | 5/9 | - | 1 |
22-44330542-G-T | c.753G>T | p.E251D | Missense | 5/9 | - | 1 |
22-44330545-G-T | c.756G>T | p.K252N | Missense | 5/9 | - | 1 |
22-44330546-G-A | c.757G>A | p.G253S | 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 |
22-44331513-C-G | c.757+967C>G | - | IntronicSNV | - | 5/8 | 1 |
22-44331778-C-A | c.758-1153C>A | - | IntronicSNV | - | 5/8 | 2 |
22-44331778-C-G | c.758-1153C>G | - | IntronicSNV | - | 5/8 | 2 |
22-44331778-C-T | c.758-1153C>T | - | IntronicSNV | - | 5/8 | 2 |
22-44331815-C-G | c.758-1116C>G | - | IntronicSNV | - | 5/8 | 2 |
22-44331943-G-A | c.758-988G>A | - | IntronicSNV | - | 5/8 | 2 |
22-44332477-T-C | c.758-454T>C | - | IntronicSNV | - | 5/8 | 1 |
22-44332493-T-C | c.758-438T>C | - | IntronicSNV | - | 5/8 | 1 |
22-44332570-G-A | c.758-361G>A | - | IntronicSNV | - | 5/8 | 48 |
22-44332653-C-G | c.758-278C>G | - | IntronicSNV | - | 5/8 | 6 |
22-44332685-A-C | c.758-246A>C | - | IntronicSNV | - | 5/8 | 2 |
22-44332685-A-G | c.758-246A>G | - | IntronicSNV | - | 5/8 | 2 |
22-44332685-A-T | c.758-246A>T | - | IntronicSNV | - | 5/8 | 2 |
22-44332878-C-A | c.758-53C>A | - | IntronicSNV | - | 5/8 | 4 |
22-44332878-C-G | c.758-53C>G | - | IntronicSNV | - | 5/8 | 4 |
22-44332878-C-T | c.758-53C>T | - | IntronicSNV | - | 5/8 | 4 |
22-44332888-T-TC | c.758-40dup | - | IntronicInsertion | - | 5/8 | 4 |
22-44332931-G-A | c.758G>A | p.G253D | Missense | 6/9 | - | 1 |
22-44332942-A-T | c.769A>T | p.R257W | Missense | 6/9 | - | 2 |
22-44332945-C-T | c.772C>T | p.P258S | Missense | 6/9 | - | 1 |
22-44332946-C-T | c.773C>T | p.P258L | Missense | 6/9 | - | 4 |
22-44332948-C-A | c.775C>A | p.Q259K | Missense | 6/9 | - | 1 |
22-44332949-CA-C | c.776del | p.Q259Rfs*4 | Frameshift | 6/9 | - | 1 |
22-44332951-C-T | c.778C>T | p.P260S | Missense | 6/9 | - | 3 |
22-44332955-GC-AG | c.782_783delinsAG | p.G261E | Missense | 6/9 | - | 1 |
22-44332960-A-C | c.787A>C | p.K263Q | Missense | 6/9 | - | 1 |
22-44332964-C-T | c.791C>T | p.S264L | Missense | 6/9 | - | 2 |
22-44332967-C-G | c.794C>G | p.S265C | Missense | 6/9 | - | 1 |
22-44332967-C-T | c.794C>T | p.S265F | Missense | 6/9 | - | 2 |
22-44332968-C-A | c.795C>A | p.S265= | Synonymous | 6/9 | - | 1 |
22-44332968-C-G | c.795C>G | p.S265= | Synonymous | 6/9 | - | 1 |
22-44332968-C-T | c.795C>T | p.S265= | Synonymous | 6/9 | - | 3 |
22-44332970-C-T | c.797C>T | p.S266L | Missense | 6/9 | - | 2 |
22-44332972-G-A | c.799G>A | p.E267K | Missense | 6/9 | - | 1 |
22-44332975-G-A | c.802G>A | p.G268R | Missense | 6/9 | - | 3 |
22-44332975-G-C | c.802G>C | p.G268R | Missense | 6/9 | - | 1 |
22-44332976-G-A | c.803G>A | p.G268E | Missense | 6/9 | - | 2 |
22-44332978-A-T | c.805A>T | p.M269L | Missense | 6/9 | - | 4 |
22-44332985-C-A | c.812C>A | p.P271H | Missense | 6/9 | - | 1 |
22-44332985-C-T | c.812C>T | p.P271L | Missense | 6/9 | - | 1 |
22-44332986-T-C | c.813T>C | p.P271= | Synonymous | 6/9 | - | 1 |
22-44332987-G-A | c.814G>A | p.E272K | Missense | 6/9 | - | 1 |
22-44332988-A-T | c.815A>T | p.E272V | Missense | 6/9 | - | 1 |
22-44332992-C-A | c.819C>A | p.V273= | Synonymous | 6/9 | - | 1 |
22-44332992-C-G | c.819C>G | p.V273= | Synonymous | 6/9 | - | 1 |
22-44332992-C-T | c.819C>T | p.V273= | Synonymous | 6/9 | - | 2 |
22-44332993-G-A | c.820G>A | p.A274T | Missense | 6/9 | - | 2 |
22-44332999-C-G | c.826C>G | p.P276A | Missense | 6/9 | - | 1 |
22-44333000-C-A | c.827C>A | p.P276H | Missense | 6/9 | - | 1 |
22-44333008-G-T | c.835G>T | p.A279S | Missense | 6/9 | - | 1 |
22-44333014-A-G | c.841A>G | p.M281V | Missense | 6/9 | - | 2 |
22-44333018-G-A | c.845G>A | p.S282N | Missense | 6/9 | - | 3 |
22-44333018-G-C | c.845G>C | p.S282T | Missense | 6/9 | - | 1 |
22-44333020-C-A | c.847C>A | p.L283M | Missense | 6/9 | - | 1 |
22-44333022-G-A | c.849G>A | p.L283= | Synonymous | 6/9 | - | 1 |
22-44333026-TC-CT | c.853_854delinsCT | p.S285L | Missense | 6/9 | - | 1 |
22-44333027-C-A | c.854C>A | p.S285Y | Missense | 6/9 | - | 1 |
22-44333031-C-T | c.858C>T | p.S286= | Synonymous | 6/9 | - | 1 |
22-44333032-C-T | c.859C>T | p.P287S | Missense | 6/9 | - | 3 |
22-44333033-C-T | c.860C>T | p.P287L | Missense | 6/9 | - | 1 |
22-44333034-G-A | c.861G>A | p.P287= | Synonymous | 6/9 | - | 1 |
22-44333035-G-A | c.862G>A | p.E288K | Missense | 6/9 | - | 1 |
22-44333036-A-T | c.863A>T | p.E288V | Missense | 6/9 | - | 1 |
22-44333039-C-T | c.866C>T | p.S289L | Missense | 6/9 | - | 1 |
22-44333040-G-A | c.867G>A | p.S289= | Synonymous | 6/9 | - | 2 |
22-44333040-G-C | c.867G>C | p.S289= | Synonymous | 6/9 | - | 1 |
22-44333040-G-T | c.867G>T | p.S289= | Synonymous | 6/9 | - | 1 |
22-44333044-G-T | c.871G>T | p.A291S | Missense | 6/9 | - | 1 |
22-44333050-G-A | c.877G>A | p.A293T | Missense | 6/9 | - | 1 |
22-44333050-G-C | c.877G>C | p.A293P | Missense | 6/9 | - | 1 |
22-44333053-GTG-ATC | c.880_882delinsATC | p.V294I | Missense | 6/9 | - | 1 |
22-44333060-T-C | c.887T>C | p.L296P | Missense | 6/9 | - | 4 |
22-44333062-G-A | c.889G>A | p.E297K | Missense | 6/9 | - | 1 |
22-44333062-G-C | c.889G>C | p.E297Q | Missense | 6/9 | - | 1 |
22-44333063-A-G | c.890A>G | p.E297G | 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 |
22-44333089-C-T | c.916C>T | p.R306C | Missense | 6/9 | - | 1 |
22-44333090-G-A | c.917G>A | p.R306H | Missense | 6/9 | - | 2 |
22-44333094-C-G | c.921C>G | p.L307= | Synonymous | 6/9 | - | 1 |
22-44333103-G-T | c.930G>T | p.L310= | Synonymous | 6/9 | - | 1 |
22-44333104-C-T | c.931C>T | p.P311S | Missense | 6/9 | - | 2 |
22-44333108-G-A | c.935G>A | p.W312* | Nonsense | 6/9 | - | 1 |
22-44333109-G-A | c.936G>A | p.W312* | Nonsense | 6/9 | - | 1 |
22-44333110-G-A | c.937G>A | p.D313N | Missense | 6/9 | - | 1 |
22-44333111-A-T | c.938A>T | p.D313V | Missense | 6/9 | - | 1 |
22-44333113-G-A | c.940G>A | p.E314K | Missense | 6/9 | - | 1 |
22-44333116-A-C | c.943A>C | p.S315R | Missense | 6/9 | - | 3 |
22-44333117-G-T | c.944G>T | p.S315I | Missense | 6/9 | - | 1 |
22-44333118-C-A | c.945C>A | p.S315R | Missense | 6/9 | - | 1 |
22-44333118-C-G | c.945C>G | p.S315R | Missense | 6/9 | - | 1 |
22-44333119-A-C | c.946A>C | p.I316L | Missense | 6/9 | - | 1 |
22-44333121-C-A | c.948C>A | p.I316= | Synonymous | 6/9 | - | 1 |
22-44333121-C-T | c.948C>T | p.I316= | Synonymous | 6/9 | - | 1 |
22-44333122-CTG-TTT | c.949_951delinsTTT | p.L317F | Missense | 6/9 | - | 1 |
22-44333128-A-T | c.955A>T | p.T319S | Missense | 6/9 | - | 1 |
22-44333129-C-G | c.956C>G | p.T319S | Missense | 6/9 | - | 1 |
22-44333129-C-T | c.956C>T | p.T319I | Missense | 6/9 | - | 4 |
22-44333130-C-T | c.957C>T | p.T319= | Synonymous | 6/9 | - | 1 |
22-44333132-T-C | c.959T>C | p.L320P | Missense | 6/9 | - | 1 |
22-44333133-C-A | c.960C>A | p.L320= | Synonymous | 6/9 | - | 2 |
22-44333133-C-G | c.960C>G | p.L320= | Synonymous | 6/9 | - | 2 |
22-44333133-C-T | c.960C>T | p.L320= | Synonymous | 6/9 | - | 2 |
22-44333134-T-C | c.961T>C | p.S321P | Missense | 6/9 | - | 2 |
22-44333135-C-T | c.962C>T | p.S321L | Missense | 6/9 | - | 1 |
22-44333136-G-T | c.963G>T | p.S321= | Synonymous | 6/9 | - | 1 |
22-44333137-C-T | c.964C>T | p.P322S | Missense | 6/9 | - | 1 |
22-44333143-C-T | c.970C>T | p.L324F | Missense | 6/9 | - | 1 |
22-44333149-A-T | c.976A>T | p.T326S | Missense | 6/9 | - | 1 |
22-44333161-T-A | c.979+9T>A | - | IntronicSNV | - | 6/8 | 1 |
22-44333172-A-G | c.979+20A>G | - | IntronicSNV | - | 6/8 | 11 |
22-44333370-A-G | c.979+218A>G | - | IntronicSNV | - | 6/8 | 1 |
22-44333479-C-G | c.979+327C>G | - | IntronicSNV | - | 6/8 | 1 |
22-44333479-C-T | c.979+327C>T | - | IntronicSNV | - | 6/8 | 1 |
22-44333694-T-G | c.979+542T>G | - | IntronicSNV | - | 6/8 | 30 |
22-44333945-C-G | c.979+793C>G | - | IntronicSNV | - | 6/8 | 1 |
22-44333968-T-C | c.979+816T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44334476-T-C | c.979+1324T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44334476-T-G | c.979+1324T>G | - | IntronicSNV | - | 6/8 | 1 |
22-44334486-T-C | c.979+1334T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44334486-T-G | c.979+1334T>G | - | IntronicSNV | - | 6/8 | 1 |
22-44334529-T-C | c.980-1344T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44334842-T-C | c.980-1031T>C | - | IntronicSNV | - | 6/8 | 2 |
22-44335331-T-C | c.980-542T>C | - | IntronicSNV | - | 6/8 | 1 |
22-44335406-C-A | c.980-467C>A | - | IntronicSNV | - | 6/8 | 1 |
22-44335416-C-T | c.980-457C>T | - | IntronicSNV | - | 6/8 | 1 |
22-44335453-G-T | c.980-420G>T | - | IntronicSNV | - | 6/8 | 1 |
22-44335744-T-C | c.980-129T>C | - | IntronicSNV | - | 6/8 | 3 |
22-44335873-C-A | c.980C>A | p.A327E | Missense | 7/9 | - | 1 |
22-44335884-G-A | c.991G>A | p.E331K | Missense | 7/9 | - | 1 |
22-44335884-G-C | c.991G>C | p.E331Q | Missense | 7/9 | - | 1 |
22-44335885-A-G | c.992A>G | p.E331G | Missense | 7/9 | - | 7 |
22-44335887-A-G | c.994A>G | p.M332V | Missense | 7/9 | - | 1 |
22-44335888-T-C | c.995T>C | p.M332T | 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 |
22-44335896-A-G | c.1003A>G | p.K335E | Missense | 7/9 | - | 1 |
22-44335899-G-A | c.1006G>A | p.G336S | Missense | 7/9 | - | 1 |
22-44335908-A-C | c.1015A>C | p.M339L | Missense | 7/9 | - | 1 |
22-44335908-A-T | c.1015A>T | p.M339L | Missense | 7/9 | - | 1 |
22-44335929-CTA-TTT | c.1036_1038delinsTTT | p.L346F | Missense | 7/9 | - | 1 |
22-44335929-C-T | c.1036C>T | p.L346= | Synonymous | 7/9 | - | 3 |
22-44335931-A-C | c.1038A>C | p.L346= | Synonymous | 7/9 | - | 2 |
22-44335931-A-G | c.1038A>G | p.L346= | Synonymous | 7/9 | - | 2 |
22-44335931-A-T | c.1038A>T | p.L346= | Synonymous | 7/9 | - | 2 |
22-44335934-C-T | c.1041C>T | p.P347= | Synonymous | 7/9 | - | 1 |
22-44335936-T-G | c.1043T>G | p.I348S | Missense | 7/9 | - | 2 |
22-44335941-A-G | c.1048A>G | p.I350V | Missense | 7/9 | - | 1 |
22-44335948-C-G | c.1055C>G | p.S352C | Missense | 7/9 | - | 1 |
22-44335951-A-G | c.1058A>G | p.Y353C | Missense | 7/9 | - | 3 |
22-44335956-A-G | c.1063A>G | p.M355V | Missense | 7/9 | - | 1 |
22-44335962-C-T | c.1069C>T | p.P357S | Missense | 7/9 | - | 1 |
22-44335963-C-A | c.1070C>A | p.P357H | Missense | 7/9 | - | 1 |
22-44335965-TG-GC | c.1072_1073delinsGC | p.C358A | Missense | 7/9 | - | 1 |
22-44335970-C-A | c.1077C>A | p.T359= | Synonymous | 7/9 | - | 1 |
22-44335971-C-T | c.1078C>T | p.L360= | Synonymous | 7/9 | - | 2 |
22-44335973-G-A | c.1080G>A | p.L360= | Synonymous | 7/9 | - | 2 |
22-44335973-G-C | c.1080G>C | p.L360= | Synonymous | 7/9 | - | 2 |
22-44335973-G-T | c.1080G>T | p.L360= | Synonymous | 7/9 | - | 2 |
22-44335974-C-T | c.1081C>T | p.P361S | Missense | 7/9 | - | 1 |
22-44335975-C-T | c.1082C>T | p.P361L | Missense | 7/9 | - | 1 |
22-44335977-GTG-ATC | c.1084_1086delinsATC | p.V362I | Missense | 7/9 | - | 1 |
22-44335980-G-T | c.1087G>T | p.E363* | Nonsense | 7/9 | - | 1 |
22-44335984-C-T | c.1091C>T | p.S364F | Missense | 7/9 | - | 1 |
22-44335986-G-C | c.1093G>C | p.A365P | Missense | 7/9 | - | 1 |
22-44335994-G-A | c.1101G>A | p.A367= | Synonymous | 7/9 | - | 1 |
22-44335994-G-C | c.1101G>C | p.A367= | Synonymous | 7/9 | - | 1 |
22-44335994-G-T | c.1101G>T | p.A367= | Synonymous | 7/9 | - | 1 |
22-44335998-G-A | c.1105G>A | p.V369I | Missense | 7/9 | - | 2 |
22-44336001-C-T | c.1108C>T | p.Q370* | Nonsense | 7/9 | - | 1 |
22-44336098-T-C | c.1112+93T>C | - | IntronicSNV | - | 7/8 | 11 |
22-44336310-A-G | c.1112+305A>G | - | IntronicSNV | - | 7/8 | 2 |
22-44336496-T-C | c.1112+491T>C | - | IntronicSNV | - | 7/8 | 1 |
22-44336957-G-A | c.1112+952G>A | - | IntronicSNV | - | 7/8 | 1 |
22-44337533-G-A | c.1112+1528G>A | - | IntronicSNV | - | 7/8 | 3 |
22-44338134-T-C | c.1112+2129T>C | - | IntronicSNV | - | 7/8 | 7 |
22-44338134-T-G | c.1112+2129T>G | - | IntronicSNV | - | 7/8 | 7 |
22-44339526-C-G | c.1113-1045C>G | - | IntronicSNV | - | 7/8 | 1 |
22-44339526-C-T | c.1113-1045C>T | - | IntronicSNV | - | 7/8 | 1 |
22-44340086-C-G | c.1113-485C>G | - | IntronicSNV | - | 7/8 | 1 |
22-44340086-C-T | c.1113-485C>T | - | IntronicSNV | - | 7/8 | 1 |
22-44340575-G-T | c.1117G>T | p.V373L | Missense | 8/9 | - | 1 |
22-44340578-A-G | c.1120A>G | p.T374A | Missense | 8/9 | - | 1 |
22-44340586-T-A | c.1128T>A | p.L376= | Synonymous | 8/9 | - | 1 |
22-44340586-T-C | c.1128T>C | p.L376= | Synonymous | 8/9 | - | 1 |
22-44340586-T-G | c.1128T>G | p.L376= | Synonymous | 8/9 | - | 1 |
22-44340589-A-C | c.1131A>C | p.P377= | Synonymous | 8/9 | - | 2 |
22-44340589-A-G | c.1131A>G | p.P377= | Synonymous | 8/9 | - | 1 |
22-44340589-A-T | c.1131A>T | p.P377= | Synonymous | 8/9 | - | 1 |
22-44340590-G-A | c.1132G>A | p.D378N | Missense | 8/9 | - | 1 |
22-44340593-A-G | c.1135A>G | p.M379V | Missense | 8/9 | - | 1 |
22-44340599-G-A | c.1141G>A | p.D381N | Missense | 8/9 | - | 1 |
22-44340602-G-A | c.1144G>A | p.D382N | Missense | 8/9 | - | 4 |
22-44340602-G-T | c.1144G>T | p.D382Y | Missense | 8/9 | - | 2 |
22-44340608-C-T | c.1150C>T | p.L384= | Synonymous | 8/9 | - | 1 |
22-44340610-G-A | c.1152G>A | p.L384= | Synonymous | 8/9 | - | 1 |
22-44340610-G-C | c.1152G>C | p.L384= | Synonymous | 8/9 | - | 1 |
22-44340610-G-T | c.1152G>T | p.L384= | Synonymous | 8/9 | - | 1 |
22-44340613-G-C | c.1155G>C | p.W385C | Missense | 8/9 | - | 1 |
22-44340613-G-T | c.1155G>T | p.W385C | Missense | 8/9 | - | 1 |
22-44340616-G-A | c.1158G>A | p.L386= | Synonymous | 8/9 | - | 1 |
22-44340617-C-T | c.1159C>T | p.Q387* | Nonsense | 8/9 | - | 1 |
22-44340618-A-G | c.1160A>G | p.Q387R | Missense | 8/9 | - | 2 |
22-44340621-GG-AT | c.1163_1164delinsAT | p.W388Y | Missense | 8/9 | - | 2 |
22-44340623-G-A | c.1165G>A | p.V389M | Missense | 8/9 | - | 2 |
22-44340626-A-G | c.1168A>G | p.T390A | Missense | 8/9 | - | 1 |
22-44340627-C-T | c.1169C>T | p.T390I | Missense | 8/9 | - | 1 |
22-44340631-A-G | c.1173A>G | p.S391= | Synonymous | 8/9 | - | 1 |
22-44340631-CACAGG-C | c.1173_1177del | p.Q392Vfs*29 | Frameshift | 8/9 | - | 1 |
22-44340638-GTT-G | c.1180_1181del | p.F394Hfs*28 | Frameshift | 8/9 | - | 1 |
22-44340640-C-T | c.1182C>T | p.F394= | Synonymous | 8/9 | - | 2 |
22-44340640-C-CA | c.1183dup | p.T395Nfs*28 | Frameshift | 8/9 | - | 3 |
22-44340642-C-G | c.1184C>G | p.T395S | Missense | 8/9 | - | 1 |
22-44340642-C-T | c.1184C>T | p.T395I | Missense | 8/9 | - | 1 |
22-44340644-C-A | c.1186C>A | p.R396= | Synonymous | 8/9 | - | 1 |
22-44340646-A-C | c.1188A>C | p.R396= | Synonymous | 8/9 | - | 1 |
22-44340646-A-G | c.1188A>G | p.R396= | Synonymous | 8/9 | - | 1 |
22-44340646-A-T | c.1188A>T | p.R396= | Synonymous | 8/9 | - | 1 |
22-44340645-GA-AT | c.1187_1188delinsAT | p.R396H | Missense | 8/9 | - | 1 |
22-44340645-G-T | c.1187G>T | p.R396L | Missense | 8/9 | - | 1 |
22-44340647-G-A | c.1189G>A | p.V397M | Missense | 8/9 | - | 1 |
22-44340649-G-T | c.1191G>T | p.V397= | Synonymous | 8/9 | - | 1 |
22-44340650-C-T | c.1192C>T | p.L398= | Synonymous | 8/9 | - | 3 |
22-44340652-G-A | c.1194G>A | p.L398= | Synonymous | 8/9 | - | 2 |
22-44340652-G-C | c.1194G>C | p.L398= | Synonymous | 8/9 | - | 2 |
22-44340652-G-T | c.1194G>T | p.L398= | Synonymous | 8/9 | - | 2 |
22-44340667-C-T | c.1209C>T | p.P403= | Synonymous | 8/9 | - | 1 |
22-44340668-G-A | c.1210G>A | p.A404T | Missense | 8/9 | - | 1 |
22-44340668-G-T | c.1210G>T | p.A404S | Missense | 8/9 | - | 1 |
22-44340904-C-G | c.1217+229C>G | - | IntronicSNV | - | 8/8 | 10 |
22-44340904-C-T | c.1217+229C>T | - | IntronicSNV | - | 8/8 | 10 |
22-44340922-T-G | c.1217+247T>G | - | IntronicSNV | - | 8/8 | 1 |
22-44341193-T-C | c.1217+518T>C | - | IntronicSNV | - | 8/8 | 1 |
22-44341298-G-A | c.1217+623G>A | - | IntronicSNV | - | 8/8 | 1 |
22-44341398-C-A | c.1218-636C>A | - | IntronicSNV | - | 8/8 | 1 |
22-44341398-C-T | c.1218-636C>T | - | IntronicSNV | - | 8/8 | 1 |
22-44341606-T-C | c.1218-428T>C | - | IntronicSNV | - | 8/8 | 1 |
22-44341666-A-G | c.1218-368A>G | - | IntronicSNV | - | 8/8 | 1 |
22-44341672-T-C | c.1218-362T>C | - | IntronicSNV | - | 8/8 | 1 |
22-44341986-T-C | c.1218-48T>C | - | IntronicSNV | - | 8/8 | 10 |
22-44341986-T-G | c.1218-48T>G | - | IntronicSNV | - | 8/8 | 10 |
22-44342036-C-T | c.1220C>T | p.S407F | Missense | 9/9 | - | 3 |
22-44342038-C-A | c.1222C>A | p.Q408K | Missense | 9/9 | - | 1 |
22-44342044-C-T | c.1228C>T | p.P410S | Missense | 9/9 | - | 1 |
22-44342049-G-C | c.1233G>C | p.V411= | Synonymous | 9/9 | - | 1 |
22-44342052-C-T | c.1236C>T | p.S412= | Synonymous | 9/9 | - | 1 |
22-44342055-C-T | c.1239C>T | p.S413= | Synonymous | 9/9 | - | 1 |
22-44342062-G-A | c.1246G>A | p.A416T | Missense | 9/9 | - | 2 |
22-44342069-C-A | c.1253C>A | p.P418Q | Missense | 9/9 | - | 1 |
22-44342069-C-G | c.1253C>G | p.P418R | Missense | 9/9 | - | 1 |
22-44342070-A-G | c.1254A>G | p.P418= | Synonymous | 9/9 | - | 1 |
22-44342078-C-T | c.1262C>T | p.P421L | Missense | 9/9 | - | 1 |
22-44342080-G-C | c.1264G>C | p.E422Q | Missense | 9/9 | - | 1 |
22-44342086-G-A | c.1270G>A | p.D424N | Missense | 9/9 | - | 1 |
22-44342092-C-T | c.1276C>T | p.P426S | Missense | 9/9 | - | 1 |
22-44342093-C-T | c.1277C>T | p.P426L | Missense | 9/9 | - | 1 |
22-44342094-C-A | c.1278C>A | p.P426= | Synonymous | 9/9 | - | 1 |
22-44342101-A-ACAGCC | c.1286_1287insAGCCC | p.P430Afs*27 | Frameshift | 9/9 | - | 1 |
22-44342102-C-CA | c.1286_1287insA | p.P430Sfs*32 | Frameshift | 9/9 | - | 1 |
22-44342104-C-T | c.1288C>T | p.P430S | Missense | 9/9 | - | 6 |
22-44342107-T-TCGGGGGA | c.1291_1292insCGGGGGA | p.C431Sfs*33 | Frameshift | 9/9 | - | 1 |
22-44342107-T-TTGGGGGA | c.1291_1292insTGGGGGA | p.C431Lfs*33 | Frameshift | 9/9 | - | 1 |
22-44342110-CTCCCCCA-C | c.1294_1300del | p.S432Rfs*21 | Frameshift | 9/9 | - | 1 |
22-44342110-TC-CG | c.1294_1295delinsCG | p.S432R | Missense | 9/9 | - | 1 |
22-44342111-C-T | c.1295C>T | p.S432F | Missense | 9/9 | - | 2 |
22-44342112-C-A | c.1296C>A | p.S432= | Synonymous | 9/9 | - | 3 |
22-44342112-C-G | c.1296C>G | p.S432= | Synonymous | 9/9 | - | 1 |
22-44342112-C-T | c.1296C>T | p.S432= | Synonymous | 9/9 | - | 4 |
22-44342116-A-G | c.1300A>G | p.K434E | Missense | 9/9 | - | 84 |
22-44342118-G-A | c.1302G>A | p.K434= | Synonymous | 9/9 | - | 2 |
22-44342119-G-A | c.1303G>A | p.G435S | Missense | 9/9 | - | 1 |
22-44342119-G-T | c.1303G>T | p.G435C | Missense | 9/9 | - | 1 |
22-44342121-GC-G | c.1305del | p.C436Vfs*19 | Frameshift | 9/9 | - | 1 |
22-44342122-T-A | c.1306T>A | p.C436S | Missense | 9/9 | - | 1 |
22-44342131-G-A | c.1315G>A | p.E439K | Missense | 9/9 | - | 1 |
22-44342138-A-G | c.1322A>G | p.K441R | Missense | 9/9 | - | 1 |
22-44342143-G-A | c.1327G>A | p.E443K | Missense | 9/9 | - | 1 |
22-44342144-A-T | c.1328A>T | p.E443V | Missense | 9/9 | - | 1 |
22-44342146-G-A | c.1330G>A | p.A444T | Missense | 9/9 | - | 1 |
22-44342147-C-T | c.1331C>T | p.A444V | Missense | 9/9 | - | 1 |
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 | - | 98 |
22-44342154-G-A | c.1338G>A | p.P446= | Synonymous | 9/9 | - | 3 |
22-44342154-G-C | c.1338G>C | p.P446= | Synonymous | 9/9 | - | 1 |
22-44342154-G-T | c.1338G>T | p.P446= | Synonymous | 9/9 | - | 1 |
22-44342155-C-T | c.1339C>T | p.R447W | Missense | 9/9 | - | 1 |
22-44342156-G-A | c.1340G>A | p.R447Q | Missense | 9/9 | - | 2 |
22-44342156-G-C | c.1340G>C | p.R447P | Missense | 9/9 | - | 1 |
22-44342166-C-G | c.1350C>G | p.L450= | Synonymous | 9/9 | - | 1 |
22-44342167-AG-A | c.1353del | p.R451Sfs*4 | Frameshift | 9/9 | - | 1 |
22-44342174-G-A | c.1358G>A | p.S453N | Missense | 9/9 | - | 2 |
22-44342174-G-T | c.1358G>T | p.S453I | Missense | 9/9 | - | 52 |
22-44342173-A-C | c.1357A>C | p.S453R | Missense | 9/9 | - | 1 |
22-44342175-C-A | c.1359C>A | p.S453R | Missense | 9/9 | - | 1 |
22-44342175-C-G | c.1359C>G | p.S453R | Missense | 9/9 | - | 3 |
22-44342175-C-T | c.1359C>T | p.S453= | Synonymous | 9/9 | - | 2 |
22-44342180-A-G | c.1364A>G | p.N455S | Missense | 9/9 | - | 4 |
22-44342182-T-A | c.1366T>A | p.F456I | Missense | 9/9 | - | 1 |
22-44342183-T-A | c.1367T>A | p.F456Y | Missense | 9/9 | - | 4 |
22-44342180-ACTT-A | c.1371_1373del | p.F457del | InFrameDeletion | 9/9 | - | 1 |
22-44342187-C-A | c.1371C>A | p.F457L | Missense | 9/9 | - | 1 |
22-44342187-C-T | c.1371C>T | p.F457= | Synonymous | 9/9 | - | 1 |
22-44342192-G-A | c.1376G>A | p.G459D | Missense | 9/9 | - | 1 |
22-44342198-A-G | c.1382A>G | p.K461R | Missense | 9/9 | - | 4 |
22-44342200-G-A | c.1384G>A | p.V462I | Missense | 9/9 | - | 1 |
22-44342203-C-T | c.1387C>T | p.P463S | Missense | 9/9 | - | 1 |
22-44342205-T-A | c.1389T>A | p.P463= | Synonymous | 9/9 | - | 1 |
22-44342205-T-C | c.1389T>C | p.P463= | Synonymous | 9/9 | - | 1 |
22-44342205-T-G | c.1389T>G | p.P463= | Synonymous | 9/9 | - | 1 |
22-44342208-T-A | c.1392T>A | p.A464= | Synonymous | 9/9 | - | 1 |
22-44342208-T-C | c.1392T>C | p.A464= | Synonymous | 9/9 | - | 1 |
22-44342208-T-G | c.1392T>G | p.A464= | Synonymous | 9/9 | - | 1 |
22-44342211-T-A | c.1395T>A | p.G465= | Synonymous | 9/9 | - | 1 |
22-44342211-T-C | c.1395T>C | p.G465= | Synonymous | 9/9 | - | 2 |
22-44342211-T-G | c.1395T>G | p.G465= | Synonymous | 9/9 | - | 1 |
22-44342213-C-T | c.1397C>T | p.A466V | Missense | 9/9 | - | 1 |
22-44342214-T-TG | c.1399dup | p.E467Gfs*24 | Frameshift | 9/9 | - | 1 |
22-44342215-G-C | c.1399G>C | p.E467Q | Missense | 9/9 | - | 3 |
22-44342218-G-A | c.1402G>A | p.G468R | Missense | 9/9 | - | 2 |
22-44342225-C-T | c.1409C>T | p.S470F | Missense | 9/9 | - | 1 |
22-44342233-C-T | c.1417C>T | p.P473S | Missense | 9/9 | - | 1 |
22-44342235-C-G | c.1419C>G | p.P473= | Synonymous | 9/9 | - | 1 |
22-44342235-C-T | c.1419C>T | p.P473= | Synonymous | 9/9 | - | 1 |
22-44342236-AGT-TGA | c.1420_1422delinsTGA | p.S474* | Nonsense | 9/9 | - | 1 |
22-44342237-G-A | c.1421G>A | p.S474N | Missense | 9/9 | - | 1 |
22-44342250-G-A | c.1434G>A | p.E478= | Synonymous | 9/9 | - | 2 |
22-44342253-G-A | c.1437G>A | p.K479= | Synonymous | 9/9 | - | 3 |
22-44342253-G-T | c.1437G>T | p.K479N | Missense | 9/9 | - | 1 |
22-44342257-C-A | c.1441C>A | p.L481M | Missense | 9/9 | - | 2 |
22-44342313-C-G | c.*51C>G | - | 3-UTRSNV | 9/9 | - | 2 |
22-44342313-C-T | c.*51C>T | - | 3-UTRSNV | 9/9 | - | 2 |
22-44342325-C-T | c.*63C>T | - | 3-UTRSNV | 9/9 | - | 19 |
22-44342367-G-A | c.*105G>A | - | 3-UTRSNV | 9/9 | - | 1 |
22-44342367-G-T | c.*105G>T | - | 3-UTRSNV | 9/9 | - | 1 |
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 | - | 2 |
22-44342969-T-C | c.*707T>C | - | 3-UTRSNV | 9/9 | - | 3 |
22-44342969-T-G | c.*707T>G | - | 3-UTRSNV | 9/9 | - | 3 |
22-44343009-T-A | c.*747T>A | - | 3-UTRSNV | 9/9 | - | 1 |
22-44343151-A-G | c.*889A>G | - | 3-UTRSNV | 9/9 | - | 2 |
22-44343352-A-G | c.*1090A>G | - | 3-UTRSNV | 9/9 | - | 1 |