Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
X-18660121-G-A | c.*3C>T | - | 3-UTRSNV | 6/6 | - | 1 |
X-18660128-G-T | c.671C>A | p.A224D | Missense | 6/6 | - | 1 |
X-18660131-C-T | c.668G>A | p.C223Y | Missense | 6/6 | - | 2 |
X-18660131-C-G | c.668G>C | p.C223S | Missense | 6/6 | - | 3 |
X-18660132-A-G | c.667T>C | p.C223R | Missense | 6/6 | - | 9 |
X-18660132-A-T | c.667T>A | p.C223S | Missense | 6/6 | - | 3 |
X-18660133-C-A | c.666G>T | p.K222N | Missense | 6/6 | - | 1 |
X-18660133-C-G | c.666G>C | p.K222N | Missense | 6/6 | - | 2 |
X-18660135-T-TG | c.663dup | p.K222Qfs*42 | Frameshift | 6/6 | - | 1 |
X-18660139-G-A | c.660C>T | p.V220= | Synonymous | 6/6 | - | 1 |
X-18660141-C-T | c.658G>A | p.V220I | Missense | 6/6 | - | 1 |
X-18660142-G-A | c.657C>T | p.C219= | Synonymous | 6/6 | - | 1 |
X-18660142-G-C | c.657C>G | p.C219W | Missense | 6/6 | - | 3 |
X-18660142-G-T | c.657C>A | p.C219* | Nonsense | 6/6 | - | 2 |
X-18660143-C-T | c.656G>A | p.C219Y | Missense | 6/6 | - | 2 |
X-18660143-C-G | c.656G>C | p.C219S | Missense | 6/6 | - | 1 |
X-18660144-A-C | c.655T>G | p.C219G | Missense | 6/6 | - | 4 |
X-18660144-A-G | c.655T>C | p.C219R | Missense | 6/6 | - | 3 |
X-18660144-A-T | c.655T>A | p.C219S | Missense | 6/6 | - | 1 |
X-18660145-C-A | c.654G>T | p.E218D | Missense | 6/6 | - | 2 |
X-18660145-C-CG | c.653_654insC | p.E218Dfs*46 | Frameshift | 6/6 | - | 1 |
X-18660145-C-G | c.654G>C | p.E218D | Missense | 6/6 | - | 3 |
X-18660151-C-A | c.648G>T | p.L216= | Synonymous | 6/6 | - | 1 |
X-18660151-C-G | c.648G>C | p.L216= | Synonymous | 6/6 | - | 1 |
X-18660151-C-T | c.648G>A | p.L216= | Synonymous | 6/6 | - | 1 |
X-18660153-G-A | c.646C>T | p.L216= | Synonymous | 6/6 | - | 1 |
X-18660152-A-G | c.647T>C | p.L216P | Missense | 6/6 | - | 5 |
X-18660154-C-CT | c.644dup | p.L216Afs*48 | Frameshift | 6/6 | - | 1 |
X-18660155-T-A | c.644A>T | p.E215V | Missense | 6/6 | - | 2 |
X-18660156-C-G | c.643G>C | p.E215Q | Missense | 6/6 | - | 2 |
X-18660156-C-T | c.643G>A | p.E215K | Missense | 6/6 | - | 3 |
X-18660157-C-A | c.642G>T | p.M214I | Missense | 6/6 | - | 1 |
X-18660157-C-G | c.642G>C | p.M214I | Missense | 6/6 | - | 1 |
X-18660157-C-T | c.642G>A | p.M214I | Missense | 6/6 | - | 3 |
X-18660161-CG-TC | c.637_638delinsGA | p.R213E | Missense | 6/6 | - | 1 |
X-18660161-C-T | c.638G>A | p.R213Q | Missense | 6/6 | - | 13 |
X-18660160-C-A | c.639G>T | p.R213= | Synonymous | 6/6 | - | 1 |
X-18660160-C-G | c.639G>C | p.R213= | Synonymous | 6/6 | - | 1 |
X-18660160-C-T | c.639G>A | p.R213= | Synonymous | 6/6 | - | 1 |
X-18660162-G-A | c.637C>T | p.R213W | Missense | 6/6 | - | 34 |
X-18660162-G-T | c.637C>A | p.R213= | Synonymous | 6/6 | - | 1 |
X-18660164-A-T | c.635T>A | p.I212N | Missense | 6/6 | - | 1 |
X-18660166-G-A | c.633C>T | p.A211= | Synonymous | 6/6 | - | 1 |
X-18660166-G-C | c.633C>G | p.A211= | Synonymous | 6/6 | - | 1 |
X-18660166-G-T | c.633C>A | p.A211= | Synonymous | 6/6 | - | 1 |
X-18660168-C-T | c.631G>A | p.A211T | Missense | 6/6 | - | 3 |
X-18660170-A-C | c.629T>G | p.I210S | Missense | 6/6 | - | 1 |
X-18660173-C-A | c.626G>T | p.R209L | Missense | 6/6 | - | 5 |
X-18660173-C-G | c.626G>C | p.R209P | Missense | 6/6 | - | 2 |
X-18660173-C-T | c.626G>A | p.R209H | Missense | 6/6 | - | 22 |
X-18660174-G-A | c.625C>T | p.R209C | Missense | 6/6 | - | 17 |
X-18660174-G-C | c.625C>G | p.R209G | Missense | 6/6 | - | 2 |
X-18660174-G-T | c.625C>A | p.R209S | Missense | 6/6 | - | 1 |
X-18660177-C-T | c.622G>A | p.V208I | Missense | 6/6 | - | 5 |
X-18660178-G-C | c.621C>G | p.H207Q | Missense | 6/6 | - | 8 |
X-18660178-G-T | c.621C>A | p.H207Q | Missense | 6/6 | - | 8 |
X-18660180-G-C | c.619C>G | p.H207D | Missense | 6/6 | - | 1 |
X-18660181-C-T | c.618G>A | p.W206* | Nonsense | 6/6 | - | 2 |
X-18660182-C-T | c.617G>A | p.W206* | Nonsense | 6/6 | - | 1 |
X-18660187-C-T | c.612G>A | p.L204= | Synonymous | 6/6 | - | 3 |
X-18660190-C-A | c.609G>T | p.P203= | Synonymous | 6/6 | - | 1 |
X-18660190-C-G | c.609G>C | p.P203= | Synonymous | 6/6 | - | 1 |
X-18660190-CGG-ACA | c.607_609delinsTGT | p.P203C | Missense | 6/6 | - | 1 |
X-18660190-C-T | c.609G>A | p.P203= | Synonymous | 6/6 | - | 1 |
X-18660191-G-A | c.608C>T | p.P203L | Missense | 6/6 | - | 15 |
X-18660192-G-A | c.607C>T | p.P203S | Missense | 6/6 | - | 2 |
X-18660192-G-C | c.607C>G | p.P203A | Missense | 6/6 | - | 1 |
X-18660196-G-A | c.603C>T | p.L201= | Synonymous | 6/6 | - | 1 |
X-18660197-A-ACAT | c.601_602insATG | p.L201delinsHV | MultiAAMissense | 6/6 | - | 1 |
X-18660197-A-T | c.602T>A | p.L201H | Missense | 6/6 | - | 1 |
X-18660198-G-T | c.601C>A | p.L201I | Missense | 6/6 | - | 1 |
X-18660200-C-A | c.599G>T | p.R200L | Missense | 6/6 | - | 1 |
X-18660200-C-T | c.599G>A | p.R200H | Missense | 6/6 | - | 6 |
X-18660201-G-A | c.598C>T | p.R200C | Missense | 6/6 | - | 17 |
X-18660202-G-A | c.597C>T | p.I199= | Synonymous | 6/6 | - | 1 |
X-18660202-G-T | c.597C>A | p.I199= | Synonymous | 6/6 | - | 1 |
X-18660198-GGCGGATGAA-G | c.592_600del | p.F198_R200del | InFrameDeletion | 6/6 | - | 1 |
X-18660203-A-G | c.596T>C | p.I199T | Missense | 6/6 | - | 3 |
X-18660205-G-A | c.594C>T | p.F198= | Synonymous | 6/6 | - | 1 |
X-18660209-C-G | c.590G>C | p.R197P | Missense | 6/6 | - | 2 |
X-18660209-C-T | c.590G>A | p.R197H | Missense | 6/6 | - | 15 |
X-18660210-G-A | c.589C>T | p.R197C | Missense | 6/6 | - | 11 |
X-18660211-G-A | c.588C>T | p.S196= | Synonymous | 6/6 | - | 1 |
X-18660212-G-A | c.587C>T | p.S196F | Missense | 6/6 | - | 2 |
X-18660213-A-C | c.586T>G | p.S196A | Missense | 6/6 | - | 5 |
X-18660214-G-A | c.585C>T | p.I195= | Synonymous | 6/6 | - | 1 |
X-18660214-G-T | c.585C>A | p.I195= | Synonymous | 6/6 | - | 1 |
X-18660216-T-C | c.583A>G | p.I195V | Missense | 6/6 | - | 2 |
X-18660218-A-T | c.581T>A | p.I194N | Missense | 6/6 | - | 2 |
X-18660218-AT-TG | c.580_581delinsCA | p.I194H | Missense | 6/6 | - | 1 |
X-18660221-G-A | c.578C>T | p.P193L | Missense | 6/6 | - | 8 |
X-18660222-G-A | c.577C>T | p.P193S | Missense | 6/6 | - | 4 |
X-18660222-G-T | c.577C>A | p.P193T | Missense | 6/6 | - | 1 |
X-18660219-TGGG-T | c.577_579del | p.P193del | InFrameDeletion | 6/6 | - | 1 |
X-18660223-G-A | c.576C>T | p.P192= | Synonymous | 6/6 | - | 2 |
X-18660223-G-C | c.576C>G | p.P192= | Synonymous | 6/6 | - | 1 |
X-18660223-G-GA | c.575_576insT | p.I194Hfs*70 | Frameshift | 6/6 | - | 1 |
X-18660223-G-T | c.576C>A | p.P192= | Synonymous | 6/6 | - | 2 |
X-18660224-G-A | c.575C>T | p.P192L | Missense | 6/6 | - | 4 |
X-18660224-G-C | c.575C>G | p.P192R | Missense | 6/6 | - | 1 |
X-18660224-G-T | c.575C>A | p.P192H | Missense | 6/6 | - | 2 |
X-18660219-TG-T | c.579del | p.I194Sfs*43 | Frameshift | 6/6 | - | 2 |
X-18660219-T-TG | c.579dup | p.I194Hfs*70 | Frameshift | 6/6 | - | 5 |
X-18660225-G-A | c.574C>T | p.P192S | Missense | 6/6 | - | 16 |
X-18660225-G-C | c.574C>G | p.P192A | Missense | 6/6 | - | 2 |
X-18660225-G-T | c.574C>A | p.P192T | Missense | 6/6 | - | 1 |
X-18660225-GC-G | c.573del | p.I194Sfs*43 | Frameshift | 6/6 | - | 2 |
X-18660227-C-G | c.572G>C | p.R191P | Missense | 6/6 | - | 1 |
X-18660227-C-T | c.572G>A | p.R191Q | Missense | 6/6 | - | 6 |
X-18660228-G-A | c.571C>T | p.R191W | Missense | 6/6 | - | 3 |
X-18660232-C-G | c.567G>C | p.L189= | Synonymous | 6/6 | - | 1 |
X-18660234-G-A | c.565C>T | p.L189= | Synonymous | 6/6 | - | 1 |
X-18660235-G-T | c.564C>A | p.N188K | Missense | 6/6 | - | 1 |
X-18660240-G-A | c.559C>T | p.Q187* | Nonsense | 6/6 | - | 1 |
X-18660242-A-G | c.557T>C | p.V186A | Missense | 6/6 | - | 1 |
X-18660243-C-T | c.556G>A | p.V186I | Missense | 6/6 | - | 3 |
X-18660244-C-A | c.555G>T | p.T185= | Synonymous | 6/6 | - | 2 |
X-18660244-C-G | c.555G>C | p.T185= | Synonymous | 6/6 | - | 2 |
X-18660244-C-T | c.555G>A | p.T185= | Synonymous | 6/6 | - | 2 |
X-18660245-G-A | c.554C>T | p.T185M | Missense | 6/6 | - | 3 |
X-18660245-G-T | c.554C>A | p.T185K | Missense | 6/6 | - | 3 |
X-18660248-G-A | c.551C>T | p.S184F | Missense | 6/6 | - | 2 |
X-18660249-A-T | c.550T>A | p.S184T | Missense | 6/6 | - | 3 |
X-18660255-G-A | c.544C>T | p.R182C | Missense | 6/6 | - | 14 |
X-18660259-C-A | c.540G>T | p.S180= | Synonymous | 6/6 | - | 3 |
X-18660259-C-G | c.540G>C | p.S180= | Synonymous | 6/6 | - | 3 |
X-18660259-C-T | c.540G>A | p.S180= | Synonymous | 6/6 | - | 3 |
X-18660260-G-T | c.539C>A | p.S180* | Nonsense | 6/6 | - | 1 |
X-18660261-A-T | c.538T>A | p.S180T | Missense | 6/6 | - | 2 |
X-18660262-G-A | c.537C>T | p.N179= | Synonymous | 6/6 | - | 1 |
X-18660264-T-C | c.535A>G | p.N179D | Missense | 6/6 | - | 7 |
X-18660266-C-T | c.533G>A | p.G178D | Missense | 6/6 | - | 6 |
X-18660268-A-C | c.531T>G | p.Y177* | Nonsense | 6/6 | - | 2 |
X-18660268-A-G | c.531T>C | p.Y177= | Synonymous | 6/6 | - | 1 |
X-18660270-A-C | c.529T>G | p.Y177D | Missense | 6/6 | - | 1 |
X-18660271-G-C | c.528C>G | p.F176L | Missense | 6/6 | - | 1 |
X-18660271-G-T | c.528C>A | p.F176L | Missense | 6/6 | - | 1 |
X-18660273-A-G | c.526T>C | p.F176L | Missense | 6/6 | - | 1 |
X-18660401-C-T | c.523-125G>A | - | IntronicSNV | - | 5/5 | 1 |
X-18660705-AG-A | c.523-430del | - | IntronicDeletion | - | 5/5 | 1 |
X-18662054-G-A | c.522+496C>T | - | IntronicSNV | - | 5/5 | 1 |
X-18662547-T-G | c.522+3A>C | - | IntronicSNV | - | 5/5 | 1 |
X-18662549-C-A | c.522+1G>T | - | IntronicSNV | - | 5/5 | 1 |
X-18662549-C-T | c.522+1G>A | - | IntronicSNV | - | 5/5 | 6 |
X-18662551-CG-TA | c.520_521delinsTA | p.R174* | Nonsense | 5/6 | - | 1 |
X-18662551-C-T | c.521G>A | p.R174Q | Missense | 5/6 | - | 1 |
X-18662552-G-A | c.520C>T | p.R174W | Missense | 5/6 | - | 2 |
X-18662552-G-C | c.520C>G | p.R174G | Missense | 5/6 | - | 1 |
X-18662551-CG-C | c.520del | p.R174Gfs*63 | Frameshift | 5/6 | - | 3 |
X-18662560-C-T | c.512G>A | p.G171E | Missense | 5/6 | - | 6 |
X-18662561-C-T | c.511G>A | p.G171R | Missense | 5/6 | - | 2 |
X-18662565-C-T | c.507G>A | p.Q169= | Synonymous | 5/6 | - | 1 |
X-18662566-T-C | c.506A>G | p.Q169R | Missense | 5/6 | - | 1 |
X-18662568-G-T | c.504C>A | p.D168E | Missense | 5/6 | - | 1 |
X-18662570-C-G | c.502G>C | p.D168H | Missense | 5/6 | - | 1 |
X-18662573-T-C | c.499A>G | p.K167E | Missense | 5/6 | - | 2 |
X-18662574-G-C | c.498C>G | p.Y166* | Nonsense | 5/6 | - | 4 |
X-18662574-G-T | c.498C>A | p.Y166* | Nonsense | 5/6 | - | 3 |
X-18662576-A-G | c.496T>C | p.Y166H | Missense | 5/6 | - | 2 |
X-18662576-A-T | c.496T>A | p.Y166N | Missense | 5/6 | - | 1 |
X-18662572-TTGTAGTAAATCCAGTTCAGGCGCTCATCGGTCC-T | c.467_499del | p.R156_Y166del | InFrameDeletion | 5/6 | - | 1 |
X-18662580-AAT-CTC | c.490_492delinsGAG | p.I164E | Missense | 5/6 | - | 1 |
X-18662582-T-C | c.490A>G | p.I164V | Missense | 5/6 | - | 1 |
X-18662582-T-G | c.490A>C | p.I164L | Missense | 5/6 | - | 1 |
X-18662583-C-A | c.489G>T | p.W163C | Missense | 5/6 | - | 3 |
X-18662583-C-G | c.489G>C | p.W163C | Missense | 5/6 | - | 4 |
X-18662582-TC-T | c.489del | p.W163* | Frameshift | 5/6 | - | 1 |
X-18662583-C-T | c.489G>A | p.W163* | Nonsense | 5/6 | - | 5 |
X-18662584-C-G | c.488G>C | p.W163S | Missense | 5/6 | - | 1 |
X-18662584-C-T | c.488G>A | p.W163* | Nonsense | 5/6 | - | 10 |
X-18662585-A-G | c.487T>C | p.W163R | Missense | 5/6 | - | 1 |
X-18662589-C-A | c.483G>T | p.L161= | Synonymous | 5/6 | - | 1 |
X-18662589-C-G | c.483G>C | p.L161= | Synonymous | 5/6 | - | 1 |
X-18662589-C-T | c.483G>A | p.L161= | Synonymous | 5/6 | - | 1 |
X-18662591-G-A | c.481C>T | p.L161= | Synonymous | 5/6 | - | 1 |
X-18662590-A-C | c.482T>G | p.L161R | Missense | 5/6 | - | 3 |
X-18662593-C-T | c.479G>A | p.R160H | Missense | 5/6 | - | 1 |
X-18662597-C-T | c.475G>A | p.E159K | Missense | 5/6 | - | 5 |
X-18662600-C-T | c.472G>A | p.D158N | Missense | 5/6 | - | 4 |
X-18662602-G-A | c.470C>T | p.T157I | Missense | 5/6 | - | 1 |
X-18662604-C-T | c.468G>A | p.R156= | Synonymous | 5/6 | - | 1 |
X-18662606-T-C | c.466A>G | p.R156G | Missense | 5/6 | - | 3 |
X-18662607-G-C | c.465C>G | p.Y155* | Nonsense | 5/6 | - | 1 |
X-18662608-T-C | c.464A>G | p.Y155C | Missense | 5/6 | - | 2 |
X-18662610-C-G | c.462G>C | p.Q154H | Missense | 5/6 | - | 1 |
X-18662611-T-C | c.461A>G | p.Q154R | Missense | 5/6 | - | 1 |
X-18662611-T-G | c.461A>C | p.Q154P | Missense | 5/6 | - | 2 |
X-18662614-A-G | c.458T>C | p.V153A | Missense | 5/6 | - | 2 |
X-18662615-C-A | c.457G>T | p.V153L | Missense | 5/6 | - | 1 |
X-18662615-C-G | c.457G>C | p.V153L | Missense | 5/6 | - | 1 |
X-18662615-C-T | c.457G>A | p.V153M | Missense | 5/6 | - | 1 |
X-18662616-CG-C | c.456del | p.S152Rfs*10 | Frameshift | 5/6 | - | 1 |
X-18662616-G-A | c.456C>T | p.S152= | Synonymous | 5/6 | - | 1 |
X-18662617-C-A | c.455G>T | p.S152I | Missense | 5/6 | - | 1 |
X-18662619-G-T | c.453C>A | p.Y151* | Nonsense | 5/6 | - | 1 |
X-18662620-T-G | c.452A>C | p.Y151S | Missense | 5/6 | - | 1 |
X-18662621-A-C | c.451T>G | p.Y151D | Missense | 5/6 | - | 1 |
X-18662621-A-G | c.451T>C | p.Y151H | Missense | 5/6 | - | 1 |
X-18662621-A-T | c.451T>A | p.Y151N | Missense | 5/6 | - | 1 |
X-18662623-T-A | c.449A>T | p.K150M | Missense | 5/6 | - | 1 |
X-18662625-G-T | c.447C>A | p.T149= | Synonymous | 5/6 | - | 1 |
X-18662629-A-C | c.443T>G | p.M148R | Missense | 5/6 | - | 1 |
X-18662629-A-G | c.443T>C | p.M148T | Missense | 5/6 | - | 1 |
X-18662631-C-A | c.441G>T | p.W147C | Missense | 5/6 | - | 1 |
X-18662631-C-T | c.441G>A | p.W147* | Nonsense | 5/6 | - | 1 |
X-18662633-A-G | c.439T>C | p.W147R | Missense | 5/6 | - | 1 |
X-18662634-C-A | c.438G>T | p.E146D | Missense | 5/6 | - | 1 |
X-18662634-C-G | c.438G>C | p.E146D | Missense | 5/6 | - | 2 |
X-18662635-T-C | c.437A>G | p.E146G | Missense | 5/6 | - | 1 |
X-18662636-C-T | c.436G>A | p.E146K | Missense | 5/6 | - | 3 |
X-18662639-C-G | c.433G>C | p.D145H | Missense | 5/6 | - | 5 |
X-18662639-C-T | c.433G>A | p.D145N | Missense | 5/6 | - | 2 |
X-18662640-G-A | c.432C>T | p.I144= | Synonymous | 5/6 | - | 2 |
X-18662640-G-T | c.432C>A | p.I144= | Synonymous | 5/6 | - | 2 |
X-18662644-T-A | c.428A>T | p.D143V | Missense | 5/6 | - | 6 |
X-18662644-T-G | c.428A>C | p.D143A | Missense | 5/6 | - | 1 |
X-18662646-A-C | c.426T>G | p.C142W | Missense | 5/6 | - | 4 |
X-18662647-C-T | c.425G>A | p.C142Y | Missense | 5/6 | - | 1 |
X-18662648-A-G | c.424T>C | p.C142R | Missense | 5/6 | - | 2 |
X-18662649-GCG-CTC | c.421_423delinsGAG | p.R141E | Missense | 5/6 | - | 1 |
X-18662649-GCG-CTT | c.421_423delinsAAG | p.R141K | Missense | 5/6 | - | 1 |
X-18662649-GC-TT | c.422_423delinsAA | p.R141Q | Missense | 5/6 | - | 2 |
X-18662650-C-G | c.422G>C | p.R141P | Missense | 5/6 | - | 1 |
X-18662650-CG-AC | c.421_422delinsGT | p.R141V | Missense | 5/6 | - | 2 |
X-18662650-CG-GC | c.421_422delinsGC | p.R141A | Missense | 5/6 | - | 3 |
X-18662650-C-T | c.422G>A | p.R141H | Missense | 5/6 | - | 23 |
X-18662651-G-A | c.421C>T | p.R141C | Missense | 5/6 | - | 18 |
X-18662651-G-C | c.421C>G | p.R141G | Missense | 5/6 | - | 12 |
X-18662651-G-T | c.421C>A | p.R141S | Missense | 5/6 | - | 4 |
X-18662653-C-T | c.419G>A | p.G140E | Missense | 5/6 | - | 4 |
X-18662654-C-G | c.418G>C | p.G140R | Missense | 5/6 | - | 2 |
X-18662654-C-T | c.418G>A | p.G140R | Missense | 5/6 | - | 4 |
X-18662655-C-A | c.417G>T | p.Q139H | Missense | 5/6 | - | 2 |
X-18662655-C-G | c.417G>C | p.Q139H | Missense | 5/6 | - | 1 |
X-18662656-CT-C | c.416del | p.Q139Rfs*10 | Frameshift | 5/6 | - | 3 |
X-18662656-T-C | c.416A>G | p.Q139R | Missense | 5/6 | - | 1 |
X-18662652-CCCCTGGGTGAGGAT-C | c.406_419del | p.I136Afs*3 | Frameshift | 5/6 | - | 1 |
X-18662659-G-T | c.413C>A | p.T138N | Missense | 5/6 | - | 2 |
X-18662660-T-C | c.412A>G | p.T138A | Missense | 5/6 | - | 3 |
X-18662662-A-G | c.410T>C | p.L137P | Missense | 5/6 | - | 1 |
X-18662662-GAGGATCCCTGAAATCACTTTGATCTCCTTCAGATCTATCTGTAACCACTGGCTACTGTC-G | c.352_410del | p.D118Hfs*6 | SpliceAcceptorDeletion | 5/6 | - | 1 |
X-18662660-TGAG-T | c.409_411del | p.L137del | InFrameDeletion | 5/6 | - | 1 |
X-18662663-G-T | c.409C>A | p.L137I | Missense | 5/6 | - | 1 |
X-18662665-A-G | c.407T>C | p.I136T | Missense | 5/6 | - | 3 |
X-18662668-C-A | c.404G>T | p.G135V | Missense | 5/6 | - | 1 |
X-18662668-C-T | c.404G>A | p.G135E | Missense | 5/6 | - | 1 |
X-18662669-C-T | c.403G>A | p.G135R | Missense | 5/6 | - | 1 |
X-18662670-T-C | c.402A>G | p.S134= | Synonymous | 5/6 | - | 1 |
X-18662672-A-C | c.400T>G | p.S134A | Missense | 5/6 | - | 1 |
X-18662681-T-G | c.391A>C | p.K131Q | Missense | 5/6 | - | 2 |
X-18662682-TG-T | c.390del | p.V132* | Frameshift | 5/6 | - | 1 |
X-18662687-C-T | c.385G>A | p.E129K | Missense | 5/6 | - | 1 |
X-18662687-CCTT-C | c.382_384del | p.K128del | InFrameDeletion | 5/6 | - | 1 |
X-18662692-A-G | c.380T>C | p.L127P | Missense | 5/6 | - | 3 |
X-18662692-CAGA-C | c.378_380del | p.D126_L127delinsE | MultiAAMissense | 5/6 | - | 1 |
X-18662693-AGATCT-A | c.375_379del | p.D126Efs*16 | Frameshift | 5/6 | - | 1 |
X-18662693-G-A | c.379C>T | p.L127= | Synonymous | 5/6 | - | 1 |
X-18662693-G-C | c.379C>G | p.L127V | Missense | 5/6 | - | 3 |
X-18662694-GA-G | c.378del | p.L127* | Frameshift | 5/6 | - | 1 |
X-18662696-C-G | c.376G>C | p.D126H | Missense | 5/6 | - | 2 |
X-18662693-GATCT-G | c.375_378del | p.D126* | Frameshift | 5/6 | - | 1 |
X-18662698-A-C | c.374T>G | p.I125R | Missense | 5/6 | - | 1 |
X-18662698-A-G | c.374T>C | p.I125T | Missense | 5/6 | - | 2 |
X-18662698-AT-GC | c.373_374delinsGC | p.I125A | Missense | 5/6 | - | 1 |
X-18662702-G-A | c.370C>T | p.Q124* | Nonsense | 5/6 | - | 1 |
X-18662706-C-A | c.366G>T | p.W122C | Missense | 5/6 | - | 2 |
X-18662706-C-G | c.366G>C | p.W122C | Missense | 5/6 | - | 2 |
X-18662706-C-T | c.366G>A | p.W122* | Nonsense | 5/6 | - | 2 |
X-18662707-C-A | c.365G>T | p.W122L | Missense | 5/6 | - | 1 |
X-18662710-CT-C | c.362del | p.Q121Rfs*5 | Frameshift | 5/6 | - | 1 |
X-18662713-CT-TA | c.358_359delinsTA | p.S120Y | Missense | 5/6 | - | 1 |
X-18662716-CTG-C | c.354_355del | p.D118Efs*2 | Frameshift | 5/6 | - | 1 |
X-18662718-G-C | c.354C>G | p.D118E | Missense | 5/6 | - | 9 |
X-18662718-G-T | c.354C>A | p.D118E | Missense | 5/6 | - | 6 |
X-18662718-TG-T | c.354del | p.D118Efs*8 | Frameshift | 5/6 | - | 2 |
X-18662720-C-G | c.352G>C | p.D118H | Missense | 5/6 | - | 1 |
X-18662720-C-T | c.352G>A | p.D118N | Missense | 5/6 | - | 1 |
X-18662721-C-A | c.351G>T | p.Q117H | Missense | 5/6 | - | 1 |
X-18662723-G-A | c.349C>T | p.Q117* | Nonsense | 5/6 | - | 1 |
X-18662727-CTT-ACA | c.343_345delinsTGT | p.K115C | Missense | 5/6 | - | 1 |
X-18662735-G-A | c.337C>T | p.L113F | Missense | 5/6 | - | 5 |
X-18662736-C-A | c.336G>T | p.W112C | Missense | 5/6 | - | 11 |
X-18662736-C-G | c.336G>C | p.W112C | Missense | 5/6 | - | 9 |
X-18662736-C-T | c.336G>A | p.W112* | Nonsense | 5/6 | - | 1 |
X-18662737-C-G | c.335G>C | p.W112S | Missense | 5/6 | - | 2 |
X-18662737-C-T | c.335G>A | p.W112* | Nonsense | 5/6 | - | 1 |
X-18662742-A-C | c.330T>G | p.C110W | Missense | 5/6 | - | 1 |
X-18662742-A-G | c.330T>C | p.C110= | Synonymous | 5/6 | - | 2 |
X-18662742-A-T | c.330T>A | p.C110* | Nonsense | 5/6 | - | 1 |
X-18662742-CA-C | c.330del | p.C110Wfs*16 | Frameshift | 5/6 | - | 1 |
X-18662743-C-T | c.329G>A | p.C110Y | Missense | 5/6 | - | 7 |
X-18662744-A-C | c.328T>G | p.C110G | Missense | 5/6 | - | 2 |
X-18662744-A-G | c.328T>C | p.C110R | Missense | 5/6 | - | 1 |
X-18662760-C-T | c.327-15G>A | - | IntronicSNV | - | 4/5 | 1 |
X-18664129-G-A | c.326+1182C>T | - | IntronicSNV | - | 4/5 | 3 |
X-18664129-G-C | c.326+1182C>G | - | IntronicSNV | - | 4/5 | 3 |
X-18664154-G-C | c.326+1157C>G | - | IntronicSNV | - | 4/5 | 1 |
X-18664157-A-G | c.326+1154T>C | - | IntronicSNV | - | 4/5 | 1 |
X-18664168-C-A | c.326+1143G>T | - | IntronicSNV | - | 4/5 | 1 |
X-18664179-A-T | c.326+1132T>A | - | IntronicSNV | - | 4/5 | 1 |
X-18664180-C-A | c.326+1131G>T | - | IntronicSNV | - | 4/5 | 1 |
X-18664180-C-T | c.326+1131G>A | - | IntronicSNV | - | 4/5 | 1 |
X-18664196-C-T | c.326+1115G>A | - | IntronicSNV | - | 4/5 | 1 |
X-18665264-AT-A | c.326+46del | - | IntronicDeletion | - | 4/5 | 1 |
X-18665289-AAAATCCCCGGGCCCTGCTTACCC-A | c.325_326+21del | - | SpliceDonorDeletion | 4/6 | 4/5 | 1 |
X-18665305-G-C | c.326+6C>G | - | IntronicSNV | - | 4/5 | 1 |
X-18665308-TTACCCAAA-T | c.322_326+3del | - | SpliceDonorDeletion | 4/6 | 4/5 | 1 |
X-18665310-C-T | c.326+1G>A | - | IntronicSNV | - | 4/5 | 2 |
X-18665311-C-G | c.326G>C | p.G109A | Missense | 4/6 | - | 1 |
X-18665311-C-T | c.326G>A | p.G109E | Missense | 4/6 | - | 6 |
X-18665312-C-A | c.325G>T | p.G109W | Missense | 4/6 | - | 2 |
X-18665312-C-G | c.325G>C | p.G109R | Missense | 4/6 | - | 9 |
X-18665312-C-T | c.325G>A | p.G109R | Missense | 4/6 | - | 9 |
X-18665314-A-C | c.323T>G | p.F108C | Missense | 4/6 | - | 6 |
X-18665317-C-A | c.320G>T | p.G107V | Missense | 4/6 | - | 2 |
X-18665321-G-A | c.316C>T | p.Q106* | Nonsense | 4/6 | - | 1 |
X-18665325-G-C | c.312C>G | p.N104K | Missense | 4/6 | - | 5 |
X-18665325-G-T | c.312C>A | p.N104K | Missense | 4/6 | - | 4 |
X-18665328-G-A | c.309C>T | p.L103= | Synonymous | 4/6 | - | 1 |
X-18665328-G-C | c.309C>G | p.L103= | Synonymous | 4/6 | - | 1 |
X-18665328-G-T | c.309C>A | p.L103= | Synonymous | 4/6 | - | 1 |
X-18665329-A-C | c.308T>G | p.L103R | Missense | 4/6 | - | 2 |
X-18665330-G-A | c.307C>T | p.L103F | Missense | 4/6 | - | 2 |
X-18665331-CCG-ACA | c.304_306delinsTGT | p.R102C | Missense | 4/6 | - | 2 |
X-18665332-C-G | c.305G>C | p.R102P | Missense | 4/6 | - | 1 |
X-18665332-CG-TC | c.304_305delinsGA | p.R102E | Missense | 4/6 | - | 1 |
X-18665332-C-T | c.305G>A | p.R102Q | Missense | 4/6 | - | 24 |
X-18665333-G-A | c.304C>T | p.R102W | Missense | 4/6 | - | 31 |
X-18665334-G-T | c.303C>A | p.A101= | Synonymous | 4/6 | - | 2 |
X-18665335-G-T | c.302C>A | p.A101D | Missense | 4/6 | - | 1 |
X-18665336-C-G | c.301G>C | p.A101P | Missense | 4/6 | - | 1 |
X-18665335-GC-G | c.301del | p.A101Pfs*25 | Frameshift | 4/6 | - | 1 |
X-18665339-T-A | c.298A>T | p.K100* | Nonsense | 4/6 | - | 1 |
X-18665341-T-C | c.296A>G | p.N99S | Missense | 4/6 | - | 2 |
X-18665341-T-G | c.296A>C | p.N99T | Missense | 4/6 | - | 1 |
X-18665341-TT-CA | c.295_296delinsTG | p.N99C | Missense | 4/6 | - | 1 |
X-18665342-T-C | c.295A>G | p.N99D | Missense | 4/6 | - | 3 |
X-18665340-GT-G | c.296del | p.N99Tfs*27 | Frameshift | 4/6 | - | 1 |
X-18665344-G-T | c.293C>A | p.A98E | Missense | 4/6 | - | 3 |
X-18665348-T-G | c.289A>C | p.T97P | Missense | 4/6 | - | 1 |
X-18665349-C-A | c.288G>T | p.W96C | Missense | 4/6 | - | 2 |
X-18665349-C-G | c.288G>C | p.W96C | Missense | 4/6 | - | 4 |
X-18665349-C-T | c.288G>A | p.W96* | Nonsense | 4/6 | - | 2 |
X-18665351-A-C | c.286T>G | p.W96G | Missense | 4/6 | - | 1 |
X-18665351-A-G | c.286T>C | p.W96R | Missense | 4/6 | - | 15 |
X-18665351-A-T | c.286T>A | p.W96R | Missense | 4/6 | - | 7 |
X-18665352-AC-A | c.285del | p.W96Gfs*30 | Frameshift | 4/6 | - | 1 |
X-18665352-C-A | c.285G>T | p.S95= | Synonymous | 4/6 | - | 1 |
X-18665353-G-A | c.284C>T | p.S95L | Missense | 4/6 | - | 1 |
X-18665352-CGAA-C | c.282_284del | p.S95del | InFrameDeletion | 4/6 | - | 1 |
X-18665359-TA-GC | c.277_278delinsGC | p.Y93A | Missense | 4/6 | - | 1 |
X-18665359-T-C | c.278A>G | p.Y93C | Missense | 4/6 | - | 7 |
X-18665359-T-G | c.278A>C | p.Y93S | Missense | 4/6 | - | 1 |
X-18665361-C-A | c.276G>T | p.W92C | Missense | 4/6 | - | 7 |
X-18665361-C-G | c.276G>C | p.W92C | Missense | 4/6 | - | 9 |
X-18665362-C-G | c.275G>C | p.W92S | Missense | 4/6 | - | 1 |
X-18665362-C-T | c.275G>A | p.W92* | Nonsense | 4/6 | - | 1 |
X-18665363-A-G | c.274T>C | p.W92R | Missense | 4/6 | - | 1 |
X-18665363-A-T | c.274T>A | p.W92R | Missense | 4/6 | - | 1 |
X-18665365-C-A | c.272G>T | p.G91V | Missense | 4/6 | - | 2 |
X-18665366-C-A | c.271G>T | p.G91C | Missense | 4/6 | - | 2 |
X-18665370-A-T | c.267T>A | p.Y89* | Nonsense | 4/6 | - | 2 |
X-18665371-T-C | c.266A>G | p.Y89C | Missense | 4/6 | - | 7 |
X-18665373-C-A | c.264G>T | p.Q88H | Missense | 4/6 | - | 1 |
X-18665373-C-G | c.264G>C | p.Q88H | Missense | 4/6 | - | 4 |
X-18665376-C-T | c.261G>A | p.E87= | Synonymous | 4/6 | - | 1 |
X-18665380-G-A | c.257C>T | p.P86L | Missense | 4/6 | - | 2 |
X-18665382-GGTT-G | c.253_255del | p.N85del | InFrameDeletion | 4/6 | - | 1 |
X-18665383-T-C | c.254A>G | p.N85S | Missense | 4/6 | - | 2 |
X-18665384-T-C | c.253A>G | p.N85D | Missense | 4/6 | - | 1 |
X-18665384-T-G | c.253A>C | p.N85H | Missense | 4/6 | - | 1 |
X-18665388-G-T | c.249C>A | p.C83* | Nonsense | 4/6 | - | 1 |
X-18665389-C-T | c.248G>A | p.C83Y | Missense | 4/6 | - | 1 |
X-18665389-C-G | c.248G>C | p.C83S | Missense | 4/6 | - | 1 |
X-18665390-A-T | c.247T>A | p.C83S | Missense | 4/6 | - | 1 |
X-18665395-A-T | c.242T>A | p.I81N | Missense | 4/6 | - | 1 |
X-18665395-AT-TC | c.241_242delinsGA | p.I81D | Missense | 4/6 | - | 1 |
X-18665397-C-G | c.240G>C | p.Q80H | Missense | 4/6 | - | 1 |
X-18665399-G-A | c.238C>T | p.Q80* | Nonsense | 4/6 | - | 2 |
X-18665400-GGTCCGGTGTGACCTCCC-G | c.221_237del | p.G74Afs*6 | Frameshift | 4/6 | - | 1 |
X-18665402-C-T | c.235G>A | p.D79N | Missense | 4/6 | - | 1 |
X-18665403-C-A | c.234G>T | p.P78= | Synonymous | 4/6 | - | 1 |
X-18665403-C-G | c.234G>C | p.P78= | Synonymous | 4/6 | - | 1 |
X-18665403-C-T | c.234G>A | p.P78= | Synonymous | 4/6 | - | 1 |
X-18665404-G-C | c.233C>G | p.P78R | Missense | 4/6 | - | 1 |
X-18665410-A-C | c.227T>G | p.V76G | Missense | 4/6 | - | 4 |
X-18665412-C-T | c.225G>A | p.E75= | Synonymous | 4/6 | - | 1 |
X-18665413-T-C | c.224A>G | p.E75G | Missense | 4/6 | - | 1 |
X-18665414-C-A | c.223G>T | p.E75* | Nonsense | 4/6 | - | 1 |
X-18665413-TCCC-T | c.221_223del | p.G74del | InFrameDeletion | 4/6 | - | 1 |
X-18665416-C-A | c.221G>T | p.G74V | Missense | 4/6 | - | 6 |
X-18665413-T-TC | c.223dup | p.E75Gfs*11 | Frameshift | 4/6 | - | 2 |
X-18665417-C-G | c.220G>C | p.G74R | Missense | 4/6 | - | 4 |
X-18665417-C-T | c.220G>A | p.G74R | Missense | 4/6 | - | 3 |
X-18665418-CT-C | c.219del | p.E75Rfs*51 | Frameshift | 4/6 | - | 2 |
X-18665419-G-A | c.218C>T | p.S73L | Missense | 4/6 | - | 1 |
X-18665419-G-T | c.218C>A | p.S73* | Nonsense | 4/6 | - | 3 |
X-18665419-TG-T | c.218del | p.S73* | Frameshift | 4/6 | - | 1 |
X-18665420-A-C | c.217T>G | p.S73A | Missense | 4/6 | - | 1 |
X-18665420-A-G | c.217T>C | p.S73P | Missense | 4/6 | - | 4 |
X-18665421-C-A | c.216G>T | p.E72D | Missense | 4/6 | - | 2 |
X-18665421-C-G | c.216G>C | p.E72D | Missense | 4/6 | - | 3 |
X-18665423-C-G | c.214G>C | p.E72Q | Missense | 4/6 | - | 4 |
X-18665423-C-T | c.214G>A | p.E72K | Missense | 4/6 | - | 35 |
X-18665428-C-G | c.209G>C | p.G70A | Missense | 4/6 | - | 1 |
X-18665428-C-T | c.209G>A | p.G70D | Missense | 4/6 | - | 4 |
X-18665429-C-G | c.208G>C | p.G70R | Missense | 4/6 | - | 1 |
X-18665429-C-T | c.208G>A | p.G70S | Missense | 4/6 | - | 15 |
X-18665430-CAG-ATA | c.205_207delinsTAT | p.L69Y | Missense | 4/6 | - | 1 |
X-18665430-CCA-C | c.206_207del | p.L69Rfs*16 | Frameshift | 4/6 | - | 2 |
X-18665431-A-G | c.206T>C | p.L69P | Missense | 4/6 | - | 2 |
X-18665434-G-C | c.203C>G | p.P68R | Missense | 4/6 | - | 2 |
X-18665435-G-A | c.202C>T | p.P68S | Missense | 4/6 | - | 1 |
X-18665436-C-A | c.201G>T | p.K67N | Missense | 4/6 | - | 1 |
X-18665436-C-G | c.201G>C | p.K67N | Missense | 4/6 | - | 1 |
X-18665441-G-C | c.196C>G | p.H66D | Missense | 4/6 | - | 1 |
X-18665442-A-C | c.195T>G | p.Y65* | Nonsense | 4/6 | - | 5 |
X-18665442-A-T | c.195T>A | p.Y65* | Nonsense | 4/6 | - | 4 |
X-18665442-GA-G | c.195del | p.H66Tfs*60 | Frameshift | 4/6 | - | 1 |
X-18665443-AT-A | c.194del | p.Y65Ffs*61 | Frameshift | 4/6 | - | 1 |
X-18665443-T-C | c.194A>G | p.Y65C | Missense | 4/6 | - | 4 |
X-18665444-A-G | c.193T>C | p.Y65H | Missense | 4/6 | - | 1 |
X-18665448-G-T | c.189C>A | p.C63* | Nonsense | 4/6 | - | 1 |
X-18665450-A-G | c.187T>C | p.C63R | Missense | 4/6 | - | 3 |
X-18665451-T-TA | c.185_186insT | p.E62Dfs*24 | SpliceAcceptorInsertion | 4/6 | - | 2 |
X-18665551-G-A | c.185-99C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18668488-G-A | c.185-3036C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18668566-A-G | c.185-3114T>C | - | IntronicSNV | - | 3/5 | 1 |
X-18668586-C-T | c.185-3134G>A | - | IntronicSNV | - | 3/5 | 2 |
X-18668641-G-A | c.185-3189C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18668659-C-T | c.185-3207G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18668660-G-A | c.185-3208C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18668712-G-A | c.185-3260C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18668712-G-T | c.185-3260C>A | - | IntronicSNV | - | 3/5 | 1 |
X-18668733-G-A | c.185-3281C>T | - | IntronicSNV | - | 3/5 | 2 |
X-18668733-G-C | c.185-3281C>G | - | IntronicSNV | - | 3/5 | 2 |
X-18671289-G-T | c.184+3484C>A | - | IntronicSNV | - | 3/5 | 2 |
X-18671565-C-T | c.184+3208G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18671566-G-A | c.184+3207C>T | - | IntronicSNV | - | 3/5 | 2 |
X-18671566-G-T | c.184+3207C>A | - | IntronicSNV | - | 3/5 | 2 |
X-18671568-G-A | c.184+3205C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18671570-G-A | c.184+3203C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18671579-T-C | c.184+3194A>G | - | IntronicSNV | - | 3/5 | 1 |
X-18671596-C-T | c.184+3177G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18671621-C-T | c.184+3152G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18671630-C-A | c.184+3143G>T | - | IntronicSNV | - | 3/5 | 1 |
X-18671639-A-G | c.184+3134T>C | - | IntronicSNV | - | 3/5 | 1 |
X-18671656-G-A | c.184+3117C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18671696-C-T | c.184+3077G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18671754-G-A | c.184+3019C>T | - | IntronicSNV | - | 3/5 | 1 |
X-18671795-A-G | c.184+2978T>C | - | IntronicSNV | - | 3/5 | 3 |
X-18671796-T-A | c.184+2977A>T | - | IntronicSNV | - | 3/5 | 3 |
X-18671796-T-C | c.184+2977A>G | - | IntronicSNV | - | 3/5 | 2 |
X-18674644-A-C | c.184+129T>G | - | IntronicSNV | - | 3/5 | 4 |
X-18674738-A-G | c.184+35T>C | - | IntronicSNV | - | 3/5 | 4 |
X-18674772-C-A | c.184+1G>T | - | IntronicSNV | - | 3/5 | 1 |
X-18674772-C-T | c.184+1G>A | - | IntronicSNV | - | 3/5 | 1 |
X-18674775-G-A | c.182C>T | p.P61L | Missense | 3/6 | - | 5 |
X-18674776-G-A | c.181C>T | p.P61S | Missense | 3/6 | - | 2 |
X-18674776-G-T | c.181C>A | p.P61T | Missense | 3/6 | - | 1 |
X-18674781-C-T | c.176G>A | p.C59Y | Missense | 3/6 | - | 5 |
X-18674781-C-G | c.176G>C | p.C59S | Missense | 3/6 | - | 9 |
X-18674782-A-C | c.175T>G | p.C59G | Missense | 3/6 | - | 3 |
X-18674782-A-T | c.175T>A | p.C59S | Missense | 3/6 | - | 11 |
X-18674783-G-T | c.174C>A | p.D58E | Missense | 3/6 | - | 1 |
X-18674787-A-G | c.170T>C | p.L57S | Missense | 3/6 | - | 1 |
X-18674786-CA-C | c.170del | p.L57Wfs*69 | Frameshift | 3/6 | - | 1 |
X-18674789-G-A | c.168C>T | p.S56= | Synonymous | 3/6 | - | 3 |
X-18674789-G-C | c.168C>G | p.S56= | Synonymous | 3/6 | - | 3 |
X-18674789-G-T | c.168C>A | p.S56= | Synonymous | 3/6 | - | 3 |
X-18674799-CC-AA | c.157_158delinsTT | p.G53F | Missense | 3/6 | - | 1 |
X-18674807-C-A | c.150G>T | p.W50C | Missense | 3/6 | - | 2 |
X-18674807-C-T | c.150G>A | p.W50* | Nonsense | 3/6 | - | 1 |
X-18674812-G-A | c.145C>T | p.L49= | Synonymous | 3/6 | - | 3 |
X-18674814-G-C | c.143C>G | p.A48G | Missense | 3/6 | - | 1 |
X-18674815-C-T | c.142G>A | p.A48T | Missense | 3/6 | - | 1 |
X-18674816-A-AT | c.140dup | p.N47Kfs*39 | Frameshift | 3/6 | - | 1 |
X-18674818-T-TG | c.138dup | p.N47Qfs*39 | Frameshift | 3/6 | - | 1 |
X-18674821-GTCCTCC-G | c.130_135del | p.G44_G45del | InFrameDeletion | 3/6 | - | 1 |
X-18674831-G-A | c.126C>T | p.C42= | Synonymous | 3/6 | - | 1 |
X-18674831-G-T | c.126C>A | p.C42* | Nonsense | 3/6 | - | 1 |
X-18674832-C-G | c.125G>C | p.C42S | Missense | 3/6 | - | 1 |
X-18674833-A-T | c.124T>A | p.C42S | Missense | 3/6 | - | 1 |
X-18674836-C-T | c.121G>A | p.D41N | Missense | 3/6 | - | 1 |
X-18674837-G-A | c.120C>T | p.C40= | Synonymous | 3/6 | - | 3 |
X-18674837-GCA-CTC | c.118_120delinsGAG | p.C40E | Missense | 3/6 | - | 1 |
X-18674837-G-T | c.120C>A | p.C40* | Nonsense | 3/6 | - | 1 |
X-18674838-C-G | c.119G>C | p.C40S | Missense | 3/6 | - | 2 |
X-18674839-A-T | c.118T>A | p.C40S | Missense | 3/6 | - | 2 |
X-18674844-C-G | c.113G>C | p.C38S | Missense | 3/6 | - | 1 |
X-18674845-A-G | c.112T>C | p.C38R | Missense | 3/6 | - | 1 |
X-18674845-A-T | c.112T>A | p.C38S | Missense | 3/6 | - | 1 |
X-18674848-C-T | c.109G>A | p.A37T | Missense | 3/6 | - | 2 |
X-18674850-T-G | c.107A>C | p.K36T | Missense | 3/6 | - | 1 |
X-18674851-T-C | c.106A>G | p.K36E | Missense | 3/6 | - | 1 |
X-18674851-T-TA | c.105_106insT | p.K36* | Nonsense | 3/6 | - | 1 |
X-18674848-CT-C | c.108del | p.A37Hfs*89 | Frameshift | 3/6 | - | 2 |
X-18674854-G-A | c.103C>T | p.Q35* | Nonsense | 3/6 | - | 2 |
X-18674856-T-C | c.101A>G | p.Y34C | Missense | 3/6 | - | 1 |
X-18674859-C-A | c.98G>T | p.W33L | Missense | 3/6 | - | 1 |
X-18674859-C-T | c.98G>A | p.W33* | Nonsense | 3/6 | - | 5 |
X-18674860-CA-C | c.97del | p.W33Gfs*93 | Frameshift | 3/6 | - | 2 |
X-18674860-A-AG | c.96dup | p.W33Lfs*53 | Frameshift | 3/6 | - | 1 |
X-18674866-C-A | c.91G>T | p.D31Y | Missense | 3/6 | - | 1 |
X-18674867-C-T | c.90G>A | p.E30= | Synonymous | 3/6 | - | 1 |
X-18674875-C-T | c.82G>A | p.E28K | Missense | 3/6 | - | 1 |
X-18674878-C-T | c.79G>A | p.D27N | Missense | 3/6 | - | 5 |
X-18675755-C-A | c.78+5G>T | - | IntronicSNV | - | 2/5 | 2 |
X-18675755-C-G | c.78+5G>C | - | IntronicSNV | - | 2/5 | 1 |
X-18675755-C-T | c.78+5G>A | - | IntronicSNV | - | 2/5 | 1 |
X-18675758-A-G | c.78+2T>C | - | IntronicSNV | - | 2/5 | 1 |
X-18675759-C-A | c.78+1G>T | - | IntronicSNV | - | 2/5 | 2 |
X-18675759-C-G | c.78+1G>C | - | IntronicSNV | - | 2/5 | 2 |
X-18675759-C-T | c.78+1G>A | - | IntronicSNV | - | 2/5 | 1 |
X-18675762-C-T | c.76G>A | p.E26K | Missense | 2/6 | - | 1 |
X-18675767-G-T | c.71C>A | p.S24Y | Missense | 2/6 | - | 2 |
X-18675769-C-A | c.69G>T | p.S23= | Synonymous | 2/6 | - | 1 |
X-18675769-C-G | c.69G>C | p.S23= | Synonymous | 2/6 | - | 1 |
X-18675769-C-T | c.69G>A | p.S23= | Synonymous | 2/6 | - | 2 |
X-18675770-G-A | c.68C>T | p.S23L | Missense | 2/6 | - | 2 |
X-18675776-C-A | c.62G>T | p.G21V | Missense | 2/6 | - | 3 |
X-18675778-C-T | c.60G>A | p.L20= | Synonymous | 2/6 | - | 1 |
X-18675780-A-G | c.58T>C | p.L20= | Synonymous | 2/6 | - | 1 |
X-18675782-G-C | c.56C>G | p.T19R | Missense | 2/6 | - | 1 |
X-18675785-G-A | c.53C>T | p.A18V | Missense | 2/6 | - | 1 |
X-18675835-C-G | c.53-50G>C | - | IntronicSNV | - | 1/5 | 1 |
X-18676205-GT-G | c.53-421del | - | IntronicDeletion | - | 1/5 | 1 |
X-18684580-GGA-G | c.52+5555_52+5556del | - | IntronicDeletion | - | 1/5 | 1 |
X-18685708-GACC-G | c.52+4426_52+4428del | - | IntronicDeletion | - | 1/5 | 1 |
X-18685773-C-T | c.52+4364G>A | - | IntronicSNV | - | 1/5 | 5 |
X-18686659-T-C | c.52+3478A>G | - | IntronicSNV | - | 1/5 | 1 |
X-18690132-C-T | c.52+5G>A | - | IntronicSNV | - | 1/5 | 1 |
X-18690134-T-C | c.52+3A>G | - | IntronicSNV | - | 1/5 | 1 |
X-18690135-A-G | c.52+2T>C | - | IntronicSNV | - | 1/5 | 1 |
X-18690135-A-T | c.52+2T>A | - | IntronicSNV | - | 1/5 | 1 |
X-18690136-C-G | c.52+1G>C | - | IntronicSNV | - | 1/5 | 1 |
X-18690136-C-T | c.52+1G>A | - | IntronicSNV | - | 1/5 | 2 |
X-18690137-C-A | c.52G>T | p.A18S | Missense | 1/6 | - | 1 |
X-18690137-C-T | c.52G>A | p.A18T | Missense | 1/6 | - | 1 |
X-18690140-C-A | c.49G>T | p.E17* | Nonsense | 1/6 | - | 1 |
X-18690142-T-C | c.47A>G | p.Y16C | Missense | 1/6 | - | 1 |
X-18690147-A-C | c.42T>G | p.F14L | Missense | 1/6 | - | 1 |
X-18690147-A-T | c.42T>A | p.F14L | Missense | 1/6 | - | 1 |
X-18690149-A-G | c.40T>C | p.F14L | Missense | 1/6 | - | 1 |
X-18690150-G-A | c.39C>T | p.L13= | Synonymous | 1/6 | - | 1 |
X-18690150-G-C | c.39C>G | p.L13= | Synonymous | 1/6 | - | 1 |
X-18690150-G-T | c.39C>A | p.L13= | Synonymous | 1/6 | - | 2 |
X-18690151-A-G | c.38T>C | p.L13P | Missense | 1/6 | - | 8 |
X-18690151-AG-GC | c.37_38delinsGC | p.L13A | Missense | 1/6 | - | 2 |
X-18690152-G-A | c.37C>T | p.L13F | Missense | 1/6 | - | 2 |
X-18690152-G-T | c.37C>A | p.L13I | Missense | 1/6 | - | 2 |
X-18690154-A-G | c.35T>C | p.L12P | Missense | 1/6 | - | 1 |
X-18690154-A-T | c.35T>A | p.L12H | Missense | 1/6 | - | 11 |
X-18690152-GAAGT-G | c.33_36del | p.L11Ffs*114 | Frameshift | 1/6 | - | 1 |
X-18690163-A-G | c.26T>C | p.L9S | Missense | 1/6 | - | 1 |
X-18690163-A-T | c.26T>A | p.L9* | Nonsense | 1/6 | - | 1 |
X-18690166-A-T | c.23T>A | p.F8Y | Missense | 1/6 | - | 2 |
X-18690162-CA-C | c.26del | p.L9Cfs*117 | Frameshift | 1/6 | - | 1 |
X-18690168-G-T | c.21C>A | p.G7= | Synonymous | 1/6 | - | 1 |
X-18690168-GC-G | c.20del | p.G7Afs*119 | Frameshift | 1/6 | - | 1 |
X-18690170-C-T | c.19G>A | p.G7S | Missense | 1/6 | - | 1 |
X-18690175-TA-T | c.14del | p.I5Kfs*121 | Frameshift | 1/6 | - | 1 |
X-18690181-C-G | c.8G>C | p.R3P | Missense | 1/6 | - | 2 |
X-18690181-C-T | c.8G>A | p.R3H | Missense | 1/6 | - | 1 |
X-18690182-G-A | c.7C>T | p.R3C | Missense | 1/6 | - | 3 |
X-18690182-G-C | c.7C>G | p.R3G | Missense | 1/6 | - | 1 |
X-18690183-T-A | c.6A>T | p.S2= | Synonymous | 1/6 | - | 7 |
X-18690183-T-C | c.6A>G | p.S2= | Synonymous | 1/6 | - | 7 |
X-18690183-T-G | c.6A>C | p.S2= | Synonymous | 1/6 | - | 7 |
X-18690186-C-A | c.3G>T | p.M1? | Missense | 1/6 | - | 1 |
X-18690186-C-G | c.3G>C | p.M1? | Missense | 1/6 | - | 1 |
X-18690186-C-T | c.3G>A | p.M1? | Missense | 1/6 | - | 2 |
X-18690187-A-G | c.2T>C | p.M1? | Missense | 1/6 | - | 1 |
X-18690188-T-A | c.1A>T | p.M1? | Missense | 1/6 | - | 4 |
X-18690188-T-C | c.1A>G | p.M1? | Missense | 1/6 | - | 1 |
X-18690188-T-G | c.1A>C | p.M1? | Missense | 1/6 | - | 1 |