Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-67351297-G-A | c.-18G>A | - | 5-UTRSNV | 1/7 | - | 3 |
11-67351540-A-G | c.2-65A>G | - | IntronicSNV | - | 1/6 | 1 |
11-67351540-A-T | c.2-65A>T | - | IntronicSNV | - | 1/6 | 1 |
11-67351585-C-G | c.2-20C>G | - | IntronicSNV | - | 1/6 | 19 |
11-67351612-C-A | c.9C>A | p.P3= | Synonymous | 2/7 | - | 1 |
11-67351612-C-G | c.9C>G | p.P3= | Synonymous | 2/7 | - | 1 |
11-67351612-C-T | c.9C>T | p.P3= | Synonymous | 2/7 | - | 1 |
11-67351624-C-G | c.21C>G | p.V7= | Synonymous | 2/7 | - | 1 |
11-67351626-A-G | c.23A>G | p.Y8C | Missense | 2/7 | - | 1 |
11-67351674-G-A | c.37+34G>A | - | IntronicSNV | - | 2/6 | 1 |
11-67351702-C-T | c.37+62C>T | - | IntronicSNV | - | 2/6 | 1 |
11-67351774-C-T | c.37+134C>T | - | IntronicSNV | - | 2/6 | 1 |
11-67351827-G-C | c.38-108G>C | - | IntronicSNV | - | 2/6 | 1 |
11-67351935-G-A | c.38G>A | p.G13D | Missense | 3/7 | - | 1 |
11-67351937-C-T | c.40C>T | p.R14C | Missense | 3/7 | - | 1 |
11-67351940-TG-CA | c.43_44inv | p.C15H | Missense | 3/7 | - | 1 |
11-67351943-G-A | c.46G>A | p.A16T | Missense | 3/7 | - | 1 |
11-67351944-C-T | c.47C>T | p.A16V | Missense | 3/7 | - | 16 |
11-67351945-G-A | c.48G>A | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351945-G-C | c.48G>C | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351945-G-T | c.48G>T | p.A16= | Synonymous | 3/7 | - | 2 |
11-67351949-C-G | c.52C>G | p.L18V | Missense | 3/7 | - | 1 |
11-67351949-C-T | c.52C>T | p.L18= | Synonymous | 3/7 | - | 1 |
11-67351949-CT-GC | c.52_53delinsGC | p.L18A | Missense | 3/7 | - | 2 |
11-67351952-GCGC-G | c.55_57del | p.R19del | InFrameDeletion | 3/7 | - | 2 |
11-67351955-A-G | c.58A>G | p.M20V | Missense | 3/7 | - | 1 |
11-67351961-C-A | c.64C>A | p.L22M | Missense | 3/7 | - | 1 |
11-67351964-GCA-AAC | c.67_69delinsAAC | p.A23N | Missense | 3/7 | - | 1 |
11-67351965-C-G | c.68C>G | p.A23G | Missense | 3/7 | - | 3 |
11-67351965-C-T | c.68C>T | p.A23V | Missense | 3/7 | - | 1 |
11-67351966-A-C | c.69A>C | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351966-A-G | c.69A>G | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351966-A-T | c.69A>T | p.A23= | Synonymous | 3/7 | - | 1 |
11-67351970-C-G | c.73C>G | p.Q25E | Missense | 3/7 | - | 2 |
11-67351992-A-T | c.95A>T | p.E32V | Missense | 3/7 | - | 1 |
11-67351997-G-C | c.100G>C | p.V34L | Missense | 3/7 | - | 1 |
11-67351997-G-T | c.100G>T | p.V34L | Missense | 3/7 | - | 1 |
11-67352009-AC-GG | c.112_113delinsGG | p.T38G | Missense | 3/7 | - | 1 |
11-67352015-CAGG-C | c.122_124del | p.E41del | InFrameDeletion | 3/7 | - | 1 |
11-67352029-C-A | c.132C>A | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352029-C-G | c.132C>G | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352029-C-T | c.132C>T | p.L44= | Synonymous | 3/7 | - | 1 |
11-67352039-TG-AC | c.142_143delinsAC | p.C48T | Missense | 3/7 | - | 1 |
11-67352045-A-G | c.144+4A>G | - | IntronicSNV | - | 3/6 | 1 |
11-67352161-C-G | c.150C>G | p.Y50* | Nonsense | 4/7 | - | 2 |
11-67352161-C-T | c.150C>T | p.Y50= | Synonymous | 4/7 | - | 2 |
11-67352167-G-GC | c.157dup | p.L53Pfs*43 | Frameshift | 4/7 | - | 1 |
11-67352170-C-A | c.159C>A | p.L53= | Synonymous | 4/7 | - | 1 |
11-67352170-C-G | c.159C>G | p.L53= | Synonymous | 4/7 | - | 1 |
11-67352170-C-T | c.159C>T | p.L53= | Synonymous | 4/7 | - | 1 |
11-67352183-G-A | c.172G>A | p.D58N | Missense | 4/7 | - | 2 |
11-67352220-T-C | c.209T>C | p.L70P | Missense | 4/7 | - | 1 |
11-67352225-C-T | c.214C>T | p.H72Y | Missense | 4/7 | - | 3 |
11-67352256-C-A | c.232+13C>A | - | IntronicSNV | - | 4/6 | 16 |
11-67352256-C-T | c.232+13C>T | - | IntronicSNV | - | 4/6 | 15 |
11-67352609-G-A | c.233G>A | p.G78E | Missense | 5/7 | - | 1 |
11-67352609-GG-AC | c.233_234delinsAC | p.G78D | Missense | 5/7 | - | 1 |
11-67352615-A-G | c.239A>G | p.Y80C | Missense | 5/7 | - | 1 |
11-67352632-GA-AG | c.256_257delinsAG | p.E86R | Missense | 5/7 | - | 1 |
11-67352638-G-A | c.262G>A | p.A88T | Missense | 5/7 | - | 1 |
11-67352638-GCC-TGG | c.262_264delinsTGG | p.A88W | Missense | 5/7 | - | 1 |
11-67352638-GC-TA | c.262_263delinsTA | p.A88Y | Missense | 5/7 | - | 1 |
11-67352638-G-T | c.262G>T | p.A88S | Missense | 5/7 | - | 1 |
11-67352639-C-T | c.263C>T | p.A88V | Missense | 5/7 | - | 1 |
11-67352640-C-A | c.264C>A | p.A88= | Synonymous | 5/7 | - | 1 |
11-67352640-C-G | c.264C>G | p.A88= | Synonymous | 5/7 | - | 1 |
11-67352640-C-T | c.264C>T | p.A88= | Synonymous | 5/7 | - | 1 |
11-67352665-G-A | c.289G>A | p.V97M | Missense | 5/7 | - | 1 |
11-67352674-C-A | c.298C>A | p.L100I | Missense | 5/7 | - | 1 |
11-67352678-G-C | c.302G>C | p.R101P | Missense | 5/7 | - | 1 |
11-67352689-A-C | c.313A>C | p.I105L | Missense | 5/7 | - | 1 |
11-67352689-A-G | c.313A>G | p.I105V | Missense | 5/7 | - | 879 |
11-67352689-AT-GC | c.313_314delinsGC | p.I105A | Missense | 5/7 | - | 2 |
11-67352691-C-A | c.315C>A | p.I105= | Synonymous | 5/7 | - | 16 |
11-67352691-C-T | c.315C>T | p.I105= | Synonymous | 5/7 | - | 16 |
11-67352695-C-A | c.319C>A | p.L107I | Missense | 5/7 | - | 1 |
11-67352698-A-G | c.322A>G | p.I108V | Missense | 5/7 | - | 2 |
11-67352698-A-T | c.322A>T | p.I108F | Missense | 5/7 | - | 1 |
11-67352704-A-T | c.328A>T | p.T110S | Missense | 5/7 | - | 2 |
11-67352705-C-G | c.329C>G | p.T110S | Missense | 5/7 | - | 2 |
11-67352711-A-G | c.335A>G | p.Y112C | Missense | 5/7 | - | 1 |
11-67352712-T-C | c.336T>C | p.Y112= | Synonymous | 5/7 | - | 1 |
11-67353253-G-A | c.337-322G>A | - | IntronicSNV | - | 5/6 | 18 |
11-67353579-C-T | c.341C>T | p.A114V | Missense | 6/7 | - | 224 |
11-67353580-G-A | c.342G>A | p.A114= | Synonymous | 6/7 | - | 1 |
11-67353580-G-C | c.342G>C | p.A114= | Synonymous | 6/7 | - | 1 |
11-67353580-G-T | c.342G>T | p.A114= | Synonymous | 6/7 | - | 1 |
11-67353589-T-A | c.351T>A | p.D117E | Missense | 6/7 | - | 1 |
11-67353589-T-G | c.351T>G | p.D117E | Missense | 6/7 | - | 1 |
11-67353590-G-A | c.352G>A | p.D118N | Missense | 6/7 | - | 1 |
11-67353598-G-C | c.360G>C | p.V120= | Synonymous | 6/7 | - | 1 |
11-67353599-A-C | c.361A>C | p.K121Q | Missense | 6/7 | - | 2 |
11-67353608-C-G | c.370C>G | p.P124A | Missense | 6/7 | - | 1 |
11-67353610-C-T | c.372C>T | p.P124= | Synonymous | 6/7 | - | 1 |
11-67353612-G-A | c.374G>A | p.G125E | Missense | 6/7 | - | 1 |
11-67353638-C-T | c.400C>T | p.L134= | Synonymous | 6/7 | - | 1 |
11-67353640-G-A | c.402G>A | p.L134= | Synonymous | 6/7 | - | 1 |
11-67353640-G-C | c.402G>C | p.L134= | Synonymous | 6/7 | - | 1 |
11-67353640-G-T | c.402G>T | p.L134= | Synonymous | 6/7 | - | 1 |
11-67353677-G-T | c.439G>T | p.D147Y | Missense | 6/7 | - | 8 |
11-67353844-C-A | c.445-16C>A | - | IntronicSNV | - | 6/6 | 14 |
11-67353844-C-T | c.445-16C>T | - | IntronicSNV | - | 6/6 | 14 |
11-67353869-G-T | c.454G>T | p.A152S | Missense | 7/7 | - | 1 |
11-67353887-G-C | c.472G>C | p.D158H | Missense | 7/7 | - | 1 |
11-67353896-C-T | c.481C>T | p.L161= | Synonymous | 7/7 | - | 1 |
11-67353932-GC-TG | c.517_518delinsTG | p.A173W | Missense | 7/7 | - | 1 |
11-67353941-C-A | c.526C>A | p.L176M | Missense | 7/7 | - | 2 |
11-67353963-G-A | c.548G>A | p.R183H | Missense | 7/7 | - | 2 |
11-67353968-A-C | c.553A>C | p.S185R | Missense | 7/7 | - | 1 |
11-67353970-T-A | c.555T>A | p.S185R | Missense | 7/7 | - | 1 |
11-67353970-T-C | c.555T>C | p.S185= | Synonymous | 7/7 | - | 14 |
11-67353970-T-G | c.555T>G | p.S185R | Missense | 7/7 | - | 1 |
11-67353974-C-G | c.559C>G | p.R187G | Missense | 7/7 | - | 1 |
11-67353974-C-T | c.559C>T | p.R187W | Missense | 7/7 | - | 3 |
11-67353983-C-T | c.568C>T | p.L190F | Missense | 7/7 | - | 1 |
11-67354004-C-G | c.589C>G | p.P197A | Missense | 7/7 | - | 1 |
11-67354005-C-T | c.590C>T | p.P197L | Missense | 7/7 | - | 3 |
11-67354006-T-A | c.591T>A | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354006-T-C | c.591T>C | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354006-T-G | c.591T>G | p.P197= | Synonymous | 7/7 | - | 1 |
11-67354038-G-C | c.623G>C | p.G208A | Missense | 7/7 | - | 1 |
11-67354038-G-T | c.623G>T | p.G208V | Missense | 7/7 | - | 1 |
11-67354104-A-G | c.*56A>G | - | 3-UTRSNV | 7/7 | - | 1 |
11-67354109-A-C | c.*61A>C | - | 3-UTRSNV | 7/7 | - | 1 |
11-67354109-A-G | c.*61A>G | - | 3-UTRSNV | 7/7 | - | 1 |