Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
14-52734424-G-A | c.-109G>A | - | IntergenicSNV | 1/2 | - | 1 |
14-52734435-C-T | c.-98C>T | - | 5-UTRSNV | 1/2 | - | 1 |
14-52734438-G-T | c.-95G>T | - | 5-UTRSNV | 1/2 | - | 2 |
14-52734443-G-A | c.-90G>A | - | 5-UTRSNV | 1/2 | - | 1 |
14-52734460-G-A | c.-73G>A | - | 5-UTRSNV | 1/2 | - | 1 |
14-52734537-A-C | c.5A>C | p.K2T | Missense | 1/2 | - | 1 |
14-52734542-C-T | c.10C>T | p.P4S | Missense | 1/2 | - | 1 |
14-52734550-C-A | c.18C>A | p.Y6* | Nonsense | 1/2 | - | 2 |
14-52734551-C-A | c.19C>A | p.R7S | Missense | 1/2 | - | 2 |
14-52734551-C-G | c.19C>G | p.R7G | Missense | 1/2 | - | 2 |
14-52734551-C-T | c.19C>T | p.R7C | Missense | 1/2 | - | 4 |
14-52734566-A-G | c.34A>G | p.T12A | Missense | 1/2 | - | 1 |
14-52734567-C-A | c.35C>A | p.T12N | Missense | 1/2 | - | 3 |
14-52734569-T-G | c.37T>G | p.S13A | Missense | 1/2 | - | 1 |
14-52734574-G-A | c.42G>A | p.V14= | Synonymous | 1/2 | - | 1 |
14-52734574-G-C | c.42G>C | p.V14= | Synonymous | 1/2 | - | 1 |
14-52734574-G-GT | c.42_43insT | p.E15* | Nonsense | 1/2 | - | 1 |
14-52734574-G-T | c.42G>T | p.V14= | Synonymous | 1/2 | - | 1 |
14-52734575-G-A | c.43G>A | p.E15K | Missense | 1/2 | - | 1 |
14-52734579-A-T | c.47A>T | p.K16I | Missense | 1/2 | - | 1 |
14-52734575-GA-G | c.48del | p.G17Afs*5 | Frameshift | 1/2 | - | 1 |
14-52734581-G-A | c.49G>A | p.G17S | Missense | 1/2 | - | 3 |
14-52734584-A-C | c.52A>C | p.N18H | Missense | 1/2 | - | 1 |
14-52734584-A-G | c.52A>G | p.N18D | Missense | 1/2 | - | 1 |
14-52734587-TCG-AAC | c.55_57delinsAAC | p.S19N | Missense | 1/2 | - | 1 |
14-52734588-C-G | c.56C>G | p.S19W | Missense | 1/2 | - | 1 |
14-52734590-GC-CA | c.58_59delinsCA | p.A20Q | Missense | 1/2 | - | 1 |
14-52734590-GCG-AAC | c.58_60delinsAAC | p.A20N | Missense | 1/2 | - | 1 |
14-52734590-GCG-TGT | c.58_60delinsTGT | p.A20C | Missense | 1/2 | - | 3 |
14-52734590-GCG-TTT | c.58_60delinsTTT | p.A20F | Missense | 1/2 | - | 4 |
14-52734591-CG-AC | c.59_60delinsAC | p.A20D | Missense | 1/2 | - | 2 |
14-52734594-T-G | c.62T>G | p.V21G | Missense | 1/2 | - | 1 |
14-52734598-G-A | c.66G>A | p.M22I | Missense | 1/2 | - | 1 |
14-52734598-G-C | c.66G>C | p.M22I | Missense | 1/2 | - | 1 |
14-52734598-G-GT | c.66_67insT | p.G23Wfs*269 | Frameshift | 1/2 | - | 1 |
14-52734598-G-T | c.66G>T | p.M22I | Missense | 1/2 | - | 1 |
14-52734599-G-C | c.67G>C | p.G23R | Missense | 1/2 | - | 1 |
14-52734600-G-A | c.68G>A | p.G23D | Missense | 1/2 | - | 2 |
14-52734601-C-A | c.69C>A | p.G23= | Synonymous | 1/2 | - | 2 |
14-52734601-C-G | c.69C>G | p.G23= | Synonymous | 1/2 | - | 1 |
14-52734601-C-T | c.69C>T | p.G23= | Synonymous | 1/2 | - | 1 |
14-52734602-G-A | c.70G>A | p.G24R | Missense | 1/2 | - | 1 |
14-52734605-G-C | c.73G>C | p.V25L | Missense | 1/2 | - | 1 |
14-52734605-G-T | c.73G>T | p.V25L | Missense | 1/2 | - | 1 |
14-52734611-T-C | c.79T>C | p.F27L | Missense | 1/2 | - | 2 |
14-52734613-C-A | c.81C>A | p.F27L | Missense | 1/2 | - | 2 |
14-52734613-C-G | c.81C>G | p.F27L | Missense | 1/2 | - | 2 |
14-52734613-C-T | c.81C>T | p.F27= | Synonymous | 1/2 | - | 2 |
14-52734614-A-G | c.82A>G | p.S28G | Missense | 1/2 | - | 1 |
14-52734614-AG-CC | c.82_83delinsCC | p.S28P | Missense | 1/2 | - | 1 |
14-52734621-G-T | c.89G>T | p.G30V | Missense | 1/2 | - | 2 |
14-52734622-C-T | c.90C>T | p.G30= | Synonymous | 1/2 | - | 1 |
14-52734626-C-T | c.94C>T | p.L32= | Synonymous | 1/2 | - | 2 |
14-52734628-G-A | c.96G>A | p.L32= | Synonymous | 1/2 | - | 1 |
14-52734628-G-C | c.96G>C | p.L32= | Synonymous | 1/2 | - | 1 |
14-52734628-G-T | c.96G>T | p.L32= | Synonymous | 1/2 | - | 1 |
14-52734656-GCG-CAT | c.124_126delinsCAT | p.A42H | Missense | 1/2 | - | 1 |
14-52734657-C-T | c.125C>T | p.A42V | Missense | 1/2 | - | 1 |
14-52734659-C-T | c.127C>T | p.R43C | Missense | 1/2 | - | 2 |
14-52734660-G-A | c.128G>A | p.R43H | Missense | 1/2 | - | 1 |
14-52734663-C-A | c.131C>A | p.S44* | Nonsense | 1/2 | - | 2 |
14-52734664-G-A | c.132G>A | p.S44= | Synonymous | 1/2 | - | 2 |
14-52734664-G-C | c.132G>C | p.S44= | Synonymous | 1/2 | - | 1 |
14-52734664-G-T | c.132G>T | p.S44= | Synonymous | 1/2 | - | 1 |
14-52734674-T-G | c.142T>G | p.W48G | Missense | 1/2 | - | 1 |
14-52734675-G-A | c.143G>A | p.W48* | Nonsense | 1/2 | - | 3 |
14-52734675-G-T | c.143G>T | p.W48L | Missense | 1/2 | - | 2 |
14-52734677-T-G | c.145T>G | p.C49G | Missense | 1/2 | - | 3 |
14-52734679-C-T | c.147C>T | p.C49= | Synonymous | 1/2 | - | 2 |
14-52734681-C-A | c.149C>A | p.S50* | Nonsense | 1/2 | - | 1 |
14-52734681-C-T | c.149C>T | p.S50L | Missense | 1/2 | - | 1 |
14-52734682-G-T | c.150G>T | p.S50= | Synonymous | 1/2 | - | 1 |
14-52734683-C-T | c.151C>T | p.R51W | Missense | 1/2 | - | 3 |
14-52734686-C-A | c.154C>A | p.R52S | Missense | 1/2 | - | 1 |
14-52734686-CG-AT | c.154_155delinsAT | p.R52I | Missense | 1/2 | - | 1 |
14-52734687-G-A | c.155G>A | p.R52H | Missense | 1/2 | - | 2 |
14-52734689-C-T | c.157C>T | p.P53S | Missense | 1/2 | - | 5 |
14-52734696-G-A | c.164G>A | p.R55H | Missense | 1/2 | - | 1 |
14-52734699-C-T | c.167C>T | p.P56L | Missense | 1/2 | - | 1 |
14-52734706-C-A | c.174C>A | p.P58= | Synonymous | 1/2 | - | 1 |
14-52734706-C-G | c.174C>G | p.P58= | Synonymous | 1/2 | - | 1 |
14-52734706-C-T | c.174C>T | p.P58= | Synonymous | 1/2 | - | 3 |
14-52734708-C-A | c.176C>A | p.S59* | Nonsense | 1/2 | - | 1 |
14-52734708-C-T | c.176C>T | p.S59L | Missense | 1/2 | - | 4 |
14-52734715-C-T | c.183C>T | p.F61= | Synonymous | 1/2 | - | 1 |
14-52734726-T-C | c.194T>C | p.V65A | Missense | 1/2 | - | 1 |
14-52734731-G-T | c.199G>T | p.G67C | Missense | 1/2 | - | 1 |
14-52734732-G-A | c.200G>A | p.G67D | Missense | 1/2 | - | 1 |
14-52734734-C-T | c.202C>T | p.L68= | Synonymous | 1/2 | - | 2 |
14-52734736-G-A | c.204G>A | p.L68= | Synonymous | 1/2 | - | 2 |
14-52734736-G-C | c.204G>C | p.L68= | Synonymous | 1/2 | - | 2 |
14-52734736-G-T | c.204G>T | p.L68= | Synonymous | 1/2 | - | 3 |
14-52734738-C-T | c.206C>T | p.T69M | Missense | 1/2 | - | 3 |
14-52734740-G-A | c.208G>A | p.V70I | Missense | 1/2 | - | 1 |
14-52734744-C-T | c.212C>T | p.T71I | Missense | 1/2 | - | 1 |
14-52734746-G-A | c.214G>A | p.D72N | Missense | 1/2 | - | 1 |
14-52734748-C-T | c.216C>T | p.D72= | Synonymous | 1/2 | - | 1 |
14-52734752-C-T | c.220C>T | p.L74= | Synonymous | 1/2 | - | 1 |
14-52734755-G-A | c.223G>A | p.G75S | Missense | 1/2 | - | 2 |
14-52734755-G-T | c.223G>T | p.G75C | Missense | 1/2 | - | 2 |
14-52734759-A-C | c.227A>C | p.K76T | Missense | 1/2 | - | 1 |
14-52734759-A-G | c.227A>G | p.K76R | Missense | 1/2 | - | 3 |
14-52734762-G-A | c.230G>A | p.C77Y | Missense | 1/2 | - | 1 |
14-52734763-C-A | c.231C>A | p.C77* | Nonsense | 1/2 | - | 1 |
14-52734764-C-T | c.232C>T | p.L78F | Missense | 1/2 | - | 1 |
14-52734766-C-T | c.234C>T | p.L78= | Synonymous | 1/2 | - | 2 |
14-52734770-A-G | c.238A>G | p.S80G | Missense | 1/2 | - | 4 |
14-52734771-G-T | c.239G>T | p.S80I | Missense | 1/2 | - | 1 |
14-52734770-A-C | c.238A>C | p.S80R | Missense | 1/2 | - | 1 |
14-52734772-C-A | c.240C>A | p.S80R | Missense | 1/2 | - | 1 |
14-52734772-C-G | c.240C>G | p.S80R | Missense | 1/2 | - | 1 |
14-52734774-C-T | c.242C>T | p.P81L | Missense | 1/2 | - | 2 |
14-52734780-T-C | c.248T>C | p.V83A | Missense | 1/2 | - | 1 |
14-52734788-G-A | c.256G>A | p.A86T | Missense | 1/2 | - | 1 |
14-52734789-C-G | c.257C>G | p.A86G | Missense | 1/2 | - | 1 |
14-52734790-C-T | c.258C>T | p.A86= | Synonymous | 1/2 | - | 1 |
14-52734794-G-A | c.262G>A | p.A88T | Missense | 1/2 | - | 1 |
14-52734794-G-T | c.262G>T | p.A88S | Missense | 1/2 | - | 2 |
14-52734795-C-G | c.263C>G | p.A88G | Missense | 1/2 | - | 1 |
14-52734808-T-A | c.276T>A | p.S92R | Missense | 1/2 | - | 1 |
14-52734813-G-A | c.281G>A | p.R94Q | Missense | 1/2 | - | 1 |
14-52734813-G-C | c.281G>C | p.R94P | Missense | 1/2 | - | 1 |
14-52734813-G-T | c.281G>T | p.R94L | Missense | 1/2 | - | 4 |
14-52734824-C-T | c.292C>T | p.P98S | Missense | 1/2 | - | 1 |
14-52734827-G-A | c.295G>A | p.A99T | Missense | 1/2 | - | 3 |
14-52734831-T-G | c.299T>G | p.L100W | Missense | 1/2 | - | 1 |
14-52734833-G-A | c.301G>A | p.D101N | Missense | 1/2 | - | 2 |
14-52734838-C-T | c.306C>T | p.N102= | Synonymous | 1/2 | - | 1 |
14-52734839-TCG-AAC | c.307_309delinsAAC | p.S103N | Missense | 1/2 | - | 1 |
14-52734840-C-T | c.308C>T | p.S103L | Missense | 1/2 | - | 4 |
14-52734846-G-A | c.314G>A | p.C105Y | Missense | 1/2 | - | 1 |
14-52734848-C-T | c.316C>T | p.Q106* | Nonsense | 1/2 | - | 6 |
14-52734851-G-T | c.319G>T | p.A107S | Missense | 1/2 | - | 1 |
14-52734853-C-A | c.321C>A | p.A107= | Synonymous | 1/2 | - | 1 |
14-52734853-C-G | c.321C>G | p.A107= | Synonymous | 1/2 | - | 1 |
14-52734853-C-T | c.321C>T | p.A107= | Synonymous | 1/2 | - | 2 |
14-52734854-T-C | c.322T>C | p.F108L | Missense | 1/2 | - | 1 |
14-52734856-C-A | c.324C>A | p.F108L | Missense | 1/2 | - | 1 |
14-52734856-C-G | c.324C>G | p.F108L | Missense | 1/2 | - | 2 |
14-52734860-T-C | c.328T>C | p.F110L | Missense | 1/2 | - | 1 |
14-52734862-C-A | c.330C>A | p.F110L | Missense | 1/2 | - | 1 |
14-52734862-C-G | c.330C>G | p.F110L | Missense | 1/2 | - | 1 |
14-52734861-T-A | c.329T>A | p.F110Y | Missense | 1/2 | - | 1 |
14-52734863-T-C | c.331T>C | p.F111L | Missense | 1/2 | - | 1 |
14-52734865-C-A | c.333C>A | p.F111L | Missense | 1/2 | - | 1 |
14-52734865-C-G | c.333C>G | p.F111L | Missense | 1/2 | - | 1 |
14-52734864-T-C | c.332T>C | p.F111S | Missense | 1/2 | - | 1 |
14-52734866-A-G | c.334A>G | p.M112V | Missense | 1/2 | - | 4 |
14-52734868-G-A | c.336G>A | p.M112I | Missense | 1/2 | - | 1 |
14-52734868-G-C | c.336G>C | p.M112I | Missense | 1/2 | - | 1 |
14-52734868-G-T | c.336G>T | p.M112I | Missense | 1/2 | - | 1 |
14-52734869-T-A | c.337T>A | p.S113T | Missense | 1/2 | - | 1 |
14-52734872-T-C | c.340T>C | p.F114L | Missense | 1/2 | - | 1 |
14-52734875-T-G | c.343T>G | p.F115V | Missense | 1/2 | - | 1 |
14-52734878-G-A | c.346G>A | p.G116R | Missense | 1/2 | - | 2 |
14-52734877-TG-T | c.348del | p.L117Sfs*18 | Frameshift | 1/2 | - | 1 |
14-52734884-T-C | c.352T>C | p.S118P | Missense | 1/2 | - | 3 |
14-52734885-C-G | c.353C>G | p.S118C | Missense | 1/2 | - | 1 |
14-52734888-C-G | c.356C>G | p.S119W | Missense | 1/2 | - | 1 |
14-52734888-C-T | c.356C>T | p.S119L | Missense | 1/2 | - | 3 |
14-52734889-G-A | c.357G>A | p.S119= | Synonymous | 1/2 | - | 2 |
14-52734889-G-C | c.357G>C | p.S119= | Synonymous | 1/2 | - | 1 |
14-52734889-G-T | c.357G>T | p.S119= | Synonymous | 1/2 | - | 1 |
14-52734892-A-C | c.360A>C | p.T120= | Synonymous | 1/2 | - | 1 |
14-52734892-A-G | c.360A>G | p.T120= | Synonymous | 1/2 | - | 1 |
14-52734892-A-T | c.360A>T | p.T120= | Synonymous | 1/2 | - | 2 |
14-52734893-C-A | c.361C>A | p.L121M | Missense | 1/2 | - | 2 |
14-52734893-C-T | c.361C>T | p.L121= | Synonymous | 1/2 | - | 1 |
14-52734894-T-G | c.362T>G | p.L121R | Missense | 1/2 | - | 2 |
14-52734897-A-G | c.365A>G | p.Q122R | Missense | 1/2 | - | 1 |
14-52734899-C-A | c.367C>A | p.L123I | Missense | 1/2 | - | 2 |
14-52734901-C-T | c.369C>T | p.L123= | Synonymous | 1/2 | - | 2 |
14-52734905-G-A | c.373G>A | p.A125T | Missense | 1/2 | - | 1 |
14-52734906-C-T | c.374C>T | p.A125V | Missense | 1/2 | - | 1 |
14-52734909-T-C | c.377T>C | p.M126T | Missense | 1/2 | - | 1 |
14-52734911-G-A | c.379G>A | p.A127T | Missense | 1/2 | - | 2 |
14-52734922-C-T | c.390C>T | p.C130= | Synonymous | 1/2 | - | 1 |
14-52734923-T-C | c.391T>C | p.W131R | Missense | 1/2 | - | 1 |
14-52734924-G-A | c.392G>A | p.W131* | Nonsense | 1/2 | - | 1 |
14-52734924-G-C | c.392G>C | p.W131S | Missense | 1/2 | - | 1 |
14-52734924-G-T | c.392G>T | p.W131L | Missense | 1/2 | - | 8 |
14-52734925-G-A | c.393G>A | p.W131* | Nonsense | 1/2 | - | 1 |
14-52734926-C-T | c.394C>T | p.L132F | Missense | 1/2 | - | 7 |
14-52734927-T-G | c.395T>G | p.L132R | Missense | 1/2 | - | 1 |
14-52734929-TC-GG | c.397_398delinsGG | p.S133G | Missense | 1/2 | - | 1 |
14-52734930-C-T | c.398C>T | p.S133F | Missense | 1/2 | - | 2 |
14-52734931-C-T | c.399C>T | p.S133= | Synonymous | 1/2 | - | 2 |
14-52734932-C-A | c.400C>A | p.L134I | Missense | 1/2 | - | 1 |
14-52734935-G-A | c.403G>A | p.G135R | Missense | 1/2 | - | 2 |
14-52734935-G-C | c.403G>C | p.G135R | Missense | 1/2 | - | 2 |
14-52734937-G-A | c.405G>A | p.G135= | Synonymous | 1/2 | - | 1 |
14-52734937-G-C | c.405G>C | p.G135= | Synonymous | 1/2 | - | 1 |
14-52734937-G-T | c.405G>T | p.G135= | Synonymous | 1/2 | - | 1 |
14-52734938-C-T | c.406C>T | p.H136Y | Missense | 1/2 | - | 1 |
14-52734942-C-G | c.410C>G | p.P137R | Missense | 1/2 | - | 1 |
14-52734946-C-A | c.414C>A | p.F138L | Missense | 1/2 | - | 1 |
14-52734953-C-T | c.421C>T | p.R141* | Nonsense | 1/2 | - | 1 |
14-52734954-G-A | c.422G>A | p.R141Q | Missense | 1/2 | - | 2 |
14-52734956-C-A | c.424C>A | p.R142= | Synonymous | 1/2 | - | 1 |
14-52734958-G-A | c.426G>A | p.R142= | Synonymous | 1/2 | - | 1 |
14-52734958-G-C | c.426G>C | p.R142= | Synonymous | 1/2 | - | 1 |
14-52734958-G-T | c.426G>T | p.R142= | Synonymous | 1/2 | - | 1 |
14-52734960-A-C | c.428A>C | p.H143P | Missense | 1/2 | - | 1 |
14-52734961-C-A | c.429C>A | p.H143Q | Missense | 1/2 | - | 1 |
14-52734968-C-T | c.436C>T | p.L146= | Synonymous | 1/2 | - | 1 |
14-52734971-C-T | c.439C>T | p.R147C | Missense | 1/2 | - | 6 |
14-52734972-G-A | c.440G>A | p.R147H | Missense | 1/2 | - | 1 |
14-52734972-G-T | c.440G>T | p.R147L | Missense | 1/2 | - | 1 |
14-52734980-G-A | c.448G>A | p.A150T | Missense | 1/2 | - | 2 |
14-52734986-G-C | c.454G>C | p.V152L | Missense | 1/2 | - | 1 |
14-52734986-G-T | c.454G>T | p.V152L | Missense | 1/2 | - | 1 |
14-52734991-C-A | c.459C>A | p.A153= | Synonymous | 1/2 | - | 2 |
14-52734992-C-T | c.460C>T | p.P154S | Missense | 1/2 | - | 3 |
14-52735001-A-C | c.469A>C | p.S157R | Missense | 1/2 | - | 3 |
14-52735003-C-A | c.471C>A | p.S157R | Missense | 1/2 | - | 5 |
14-52735003-C-G | c.471C>G | p.S157R | Missense | 1/2 | - | 3 |
14-52735003-C-T | c.471C>T | p.S157= | Synonymous | 1/2 | - | 1 |
14-52735007-T-C | c.475T>C | p.F159L | Missense | 1/2 | - | 2 |
14-52735009-C-T | c.477C>T | p.F159= | Synonymous | 1/2 | - | 1 |
14-52735012-C-A | c.480C>A | p.S160= | Synonymous | 1/2 | - | 1 |
14-52735012-C-G | c.480C>G | p.S160= | Synonymous | 1/2 | - | 1 |
14-52735012-C-T | c.480C>T | p.S160= | Synonymous | 1/2 | - | 1 |
14-52735015-G-T | c.483G>T | p.L161= | Synonymous | 1/2 | - | 2 |
14-52735016-G-T | c.484G>T | p.A162S | Missense | 1/2 | - | 1 |
14-52735022-T-A | c.490T>A | p.C164S | Missense | 1/2 | - | 1 |
14-52735023-G-C | c.491G>C | p.C164S | Missense | 1/2 | - | 1 |
14-52735023-G-A | c.491G>A | p.C164Y | Missense | 1/2 | - | 1 |
14-52735025-G-A | c.493G>A | p.A165T | Missense | 1/2 | - | 1 |
14-52735026-C-T | c.494C>T | p.A165V | Missense | 1/2 | - | 5 |
14-52735027-G-A | c.495G>A | p.A165= | Synonymous | 1/2 | - | 2 |
14-52735027-G-C | c.495G>C | p.A165= | Synonymous | 1/2 | - | 1 |
14-52735027-G-T | c.495G>T | p.A165= | Synonymous | 1/2 | - | 1 |
14-52735035-T-A | c.503T>A | p.F168Y | Missense | 1/2 | - | 1 |
14-52735040-G-T | c.508G>T | p.G170C | Missense | 1/2 | - | 1 |
14-52735041-GC-AG | c.509_510delinsAG | p.G170E | Missense | 1/2 | - | 1 |
14-52735042-C-A | c.510C>A | p.G170= | Synonymous | 1/2 | - | 1 |
14-52735042-C-G | c.510C>G | p.G170= | Synonymous | 1/2 | - | 1 |
14-52735042-C-T | c.510C>T | p.G170= | Synonymous | 1/2 | - | 2 |
14-52735045-C-T | c.513C>T | p.F171= | Synonymous | 1/2 | - | 1 |
14-52735046-G-A | c.514G>A | p.G172R | Missense | 1/2 | - | 3 |
14-52735046-GG-AA | c.514_515delinsAA | p.G172K | Missense | 1/2 | - | 3 |
14-52735047-G-A | c.515G>A | p.G172E | Missense | 1/2 | - | 2 |
14-52735048-G-A | c.516G>A | p.G172= | Synonymous | 1/2 | - | 2 |
14-52735054-C-T | c.522C>T | p.F174= | Synonymous | 1/2 | - | 3 |
14-52735060-G-A | c.528G>A | p.Q176= | Synonymous | 1/2 | - | 2 |
14-52735063-C-A | c.531C>A | p.Y177* | Nonsense | 1/2 | - | 1 |
14-52735063-C-G | c.531C>G | p.Y177* | Nonsense | 1/2 | - | 5 |
14-52735064-T-G | c.532T>G | p.C178G | Missense | 1/2 | - | 9 |
14-52735066-C-T | c.534C>T | p.C178= | Synonymous | 1/2 | - | 1 |
14-52735067-C-A | c.535C>A | p.P179T | Missense | 1/2 | - | 3 |
14-52735067-C-T | c.535C>T | p.P179S | Missense | 1/2 | - | 2 |
14-52735068-C-A | c.536C>A | p.P179H | Missense | 1/2 | - | 1 |
14-52735070-G-T | c.538G>T | p.G180C | Missense | 1/2 | - | 4 |
14-52735074-C-T | c.542C>T | p.T181I | Missense | 1/2 | - | 1 |
14-52735082-T-C | c.550T>C | p.F184L | Missense | 1/2 | - | 1 |
14-52735083-T-A | c.551T>A | p.F184Y | Missense | 1/2 | - | 1 |
14-52735086-T-C | c.554T>C | p.I185T | Missense | 1/2 | - | 1 |
14-52735090-G-A | c.558G>A | p.Q186= | Synonymous | 1/2 | - | 2 |
14-52735094-G-A | c.562G>A | p.V188I | Missense | 1/2 | - | 1 |
14-52735100-G-A | c.568G>A | p.E190K | Missense | 1/2 | - | 3 |
14-52735100-G-T | c.568G>T | p.E190* | Nonsense | 1/2 | - | 3 |
14-52735102-G-A | c.570G>A | p.E190= | Synonymous | 1/2 | - | 2 |
14-52735104-A-G | c.572A>G | p.E191G | Missense | 1/2 | - | 1 |
14-52735104-A-T | c.572A>T | p.E191V | Missense | 1/2 | - | 1 |
14-52735105-G-T | c.573G>T | p.E191D | Missense | 1/2 | - | 1 |
14-52735106-G-A | c.574G>A | p.G192S | Missense | 1/2 | - | 2 |
14-52735108-C-A | c.576C>A | p.G192= | Synonymous | 1/2 | - | 1 |
14-52735108-C-G | c.576C>G | p.G192= | Synonymous | 1/2 | - | 1 |
14-52735108-C-T | c.576C>T | p.G192= | Synonymous | 1/2 | - | 8 |
14-52735110-C-T | c.578C>T | p.S193L | Missense | 1/2 | - | 2 |
14-52735116-C-T | c.584C>T | p.S195L | Missense | 1/2 | - | 2 |
14-52735119-T-G | c.587T>G | p.V196G | Missense | 1/2 | - | 3 |
14-52735124-G-A | c.592G>A | p.G198R | Missense | 1/2 | - | 1 |
14-52735125-G-A | c.593G>A | p.G198E | Missense | 1/2 | - | 3 |
14-52735126-G-A | c.594G>A | p.G198= | Synonymous | 1/2 | - | 1 |
14-52735126-G-C | c.594G>C | p.G198= | Synonymous | 1/2 | - | 1 |
14-52735126-G-T | c.594G>T | p.G198= | Synonymous | 1/2 | - | 1 |
14-52735128-A-G | c.596A>G | p.Y199C | Missense | 1/2 | - | 3 |
14-52735128-A-T | c.596A>T | p.Y199F | Missense | 1/2 | - | 1 |
14-52735143-C-A | c.611C>A | p.S204Y | Missense | 1/2 | - | 2 |
14-52735144-C-A | c.612C>A | p.S204= | Synonymous | 1/2 | - | 2 |
14-52735144-C-G | c.612C>G | p.S204= | Synonymous | 1/2 | - | 2 |
14-52735144-C-T | c.612C>T | p.S204= | Synonymous | 1/2 | - | 3 |
14-52735150-C-A | c.618C>A | p.L206= | Synonymous | 1/2 | - | 1 |
14-52735156-G-A | c.624G>A | p.A208= | Synonymous | 1/2 | - | 1 |
14-52735156-G-C | c.624G>C | p.A208= | Synonymous | 1/2 | - | 1 |
14-52735156-G-T | c.624G>T | p.A208= | Synonymous | 1/2 | - | 1 |
14-52735161-T-A | c.629T>A | p.L210Q | Missense | 1/2 | - | 1 |
14-52735162-G-T | c.630G>T | p.L210= | Synonymous | 1/2 | - | 1 |
14-52735165-C-T | c.633C>T | p.V211= | Synonymous | 1/2 | - | 1 |
14-52735174-C-A | c.642C>A | p.T214= | Synonymous | 1/2 | - | 2 |
14-52735174-C-G | c.642C>G | p.T214= | Synonymous | 1/2 | - | 1 |
14-52735174-C-T | c.642C>T | p.T214= | Synonymous | 1/2 | - | 1 |
14-52735183-C-A | c.651C>A | p.C217* | Nonsense | 1/2 | - | 2 |
14-52735190-G-A | c.658G>A | p.G220S | Missense | 1/2 | - | 2 |
14-52735193-G-A | c.661G>A | p.A221T | Missense | 1/2 | - | 2 |
14-52735195-C-T | c.663C>T | p.A221= | Synonymous | 1/2 | - | 2 |
14-52735199-C-T | c.667C>T | p.R223C | Missense | 1/2 | - | 1 |
14-52735205-C-A | c.673C>A | p.L225I | Missense | 1/2 | - | 1 |
14-52735209-A-G | c.677A>G | p.Y226C | Missense | 1/2 | - | 5 |
14-52735212-C-A | c.680C>A | p.A227E | Missense | 1/2 | - | 1 |
14-52735213-G-C | c.681G>C | p.A227= | Synonymous | 1/2 | - | 1 |
14-52735216-G-A | c.684G>A | p.M228I | Missense | 1/2 | - | 2 |
14-52735216-G-C | c.684G>C | p.M228I | Missense | 1/2 | - | 1 |
14-52735216-G-T | c.684G>T | p.M228I | Missense | 1/2 | - | 1 |
14-52735217-C-T | c.685C>T | p.H229Y | Missense | 1/2 | - | 2 |
14-52735221-G-A | c.689G>A | p.R230Q | Missense | 1/2 | - | 1 |
14-52735221-GG-AT | c.689_690delinsAT | p.R230H | Missense | 1/2 | - | 1 |
14-52735226-C-T | c.694C>T | p.L232= | Synonymous | 1/2 | - | 1 |
14-52735224-GGCT-G | c.695_697del | p.L232del | InFrameDeletion | 1/2 | - | 1 |
14-52735232-C-T | c.700C>T | p.R234W | Missense | 1/2 | - | 1 |
14-52735240-G-A | c.708G>A | p.P236= | Synonymous | 1/2 | - | 3 |
14-52735240-G-C | c.708G>C | p.P236= | Synonymous | 1/2 | - | 1 |
14-52735240-G-T | c.708G>T | p.P236= | Synonymous | 1/2 | - | 1 |
14-52735241-C-T | c.709C>T | p.R237C | Missense | 1/2 | - | 1 |
14-52735242-G-A | c.710G>A | p.R237H | Missense | 1/2 | - | 2 |
14-52735243-C-A | c.711C>A | p.R237= | Synonymous | 1/2 | - | 2 |
14-52735251-C-T | c.719C>T | p.T240I | Missense | 1/2 | - | 3 |
14-52735256-G-A | c.724G>A | p.D242N | Missense | 1/2 | - | 3 |
14-52735256-G-T | c.724G>T | p.D242Y | Missense | 1/2 | - | 1 |
14-52735261-T-C | c.729T>C | p.C243= | Synonymous | 1/2 | - | 2 |
14-52735263-C-T | c.731C>T | p.A244V | Missense | 1/2 | - | 4 |
14-52735264-C-T | c.732C>T | p.A244= | Synonymous | 1/2 | - | 1 |
14-52735269-C-A | c.737C>A | p.P246Q | Missense | 1/2 | - | 4 |
14-52735271-C-T | c.739C>T | p.R247C | Missense | 1/2 | - | 3 |
14-52735272-G-A | c.740G>A | p.R247H | Missense | 1/2 | - | 1 |
14-52735275-C-T | c.743C>T | p.A248V | Missense | 1/2 | - | 2 |
14-52735279-C-A | c.747C>A | p.D249E | Missense | 1/2 | - | 2 |
14-52735279-C-G | c.747C>G | p.D249E | Missense | 1/2 | - | 1 |
14-52735279-C-T | c.747C>T | p.D249= | Synonymous | 1/2 | - | 2 |
14-52735280-G-A | c.748G>A | p.G250R | Missense | 1/2 | - | 3 |
14-52735280-G-C | c.748G>C | p.G250R | Missense | 1/2 | - | 3 |
14-52735281-G-A | c.749G>A | p.G250E | Missense | 1/2 | - | 5 |
14-52735282-G-A | c.750G>A | p.G250= | Synonymous | 1/2 | - | 1 |
14-52735282-G-C | c.750G>C | p.G250= | Synonymous | 1/2 | - | 1 |
14-52735282-G-T | c.750G>T | p.G250= | Synonymous | 1/2 | - | 1 |
14-52735283-A-C | c.751A>C | p.R251= | Synonymous | 1/2 | - | 1 |
14-52735285-G-A | c.753G>A | p.R251= | Synonymous | 1/2 | - | 2 |
14-52735286-G-A | c.754G>A | p.E252K | Missense | 1/2 | - | 1 |
14-52735290-C-G | c.758C>G | p.A253G | Missense | 1/2 | - | 8 |
14-52735290-C-T | c.758C>T | p.A253V | Missense | 1/2 | - | 1 |
14-52735293-C-G | c.761C>G | p.S254C | Missense | 1/2 | - | 2 |
14-52735294-C-T | c.762C>T | p.S254= | Synonymous | 1/2 | - | 3 |
14-52735296-C-T | c.764C>T | p.P255L | Missense | 1/2 | - | 1 |
14-52735298-C-T | c.766C>T | p.Q256* | Nonsense | 1/2 | - | 5 |
14-52735302-C-T | c.770C>T | p.P257L | Missense | 1/2 | - | 6 |
14-52735304-C-CA | c.772_773insA | p.L258Hfs*34 | Frameshift | 1/2 | - | 1 |
14-52735305-T-C | c.773T>C | p.L258P | Missense | 1/2 | - | 1 |
14-52735307-G-A | c.775G>A | p.E259K | Missense | 1/2 | - | 2 |
14-52735319-C-T | c.787C>T | p.H263Y | Missense | 1/2 | - | 6 |
14-52735330-G-C | c.798G>C | p.L266= | Synonymous | 1/2 | - | 1 |
14-52735331-C-A | c.799C>A | p.L267M | Missense | 1/2 | - | 4 |
14-52735331-C-T | c.799C>T | p.L267= | Synonymous | 1/2 | - | 3 |
14-52735333-G-A | c.801G>A | p.L267= | Synonymous | 1/2 | - | 1 |
14-52735333-G-C | c.801G>C | p.L267= | Synonymous | 1/2 | - | 1 |
14-52735333-G-T | c.801G>T | p.L267= | Synonymous | 1/2 | - | 1 |
14-52735334-G-A | c.802G>A | p.A268T | Missense | 1/2 | - | 1 |
14-52735335-C-T | c.803C>T | p.A268V | Missense | 1/2 | - | 1 |
14-52735336-G-A | c.804G>A | p.A268= | Synonymous | 1/2 | - | 1 |
14-52735336-G-C | c.804G>C | p.A268= | Synonymous | 1/2 | - | 1 |
14-52735336-G-T | c.804G>T | p.A268= | Synonymous | 1/2 | - | 1 |
14-52735339-G-T | c.807G>T | p.L269= | Synonymous | 1/2 | - | 1 |
14-52735356-C-A | c.824C>A | p.T275N | Missense | 1/2 | - | 1 |
14-52735356-C-G | c.824C>G | p.T275S | Missense | 1/2 | - | 1 |
14-52735360-G-A | c.828G>A | p.M276I | Missense | 1/2 | - | 1 |
14-52735365-C-A | c.833C>A | p.S278Y | Missense | 1/2 | - | 1 |
14-52735365-C-T | c.833C>T | p.S278F | Missense | 1/2 | - | 6 |
14-52735366-T-C | c.834T>C | p.S278= | Synonymous | 1/2 | - | 1 |
14-52735370-C-A | c.838C>A | p.P280T | Missense | 1/2 | - | 1 |
14-52735388-C-T | c.846+10C>T | - | IntronicSNV | - | 1/1 | 1 |
14-52735517-C-T | c.846+139C>T | - | IntronicSNV | - | 1/1 | 1 |
14-52735656-A-T | c.846+278A>T | - | IntronicSNV | - | 1/1 | 1 |
14-52736128-G-A | c.846+750G>A | - | IntronicSNV | - | 1/1 | 1 |
14-52736153-TCTC-T | c.846+779_846+781del | - | IntronicDeletion | - | 1/1 | 1 |
14-52736310-C-A | c.846+932C>A | - | IntronicSNV | - | 1/1 | 2 |
14-52736310-C-T | c.846+932C>T | - | IntronicSNV | - | 1/1 | 3 |
14-52736768-A-G | c.846+1390A>G | - | IntronicSNV | - | 1/1 | 3 |
14-52736987-C-T | c.846+1609C>T | - | IntronicSNV | - | 1/1 | 1 |
14-52737115-C-G | c.846+1737C>G | - | IntronicSNV | - | 1/1 | 1 |
14-52740441-C-A | c.847-1008C>A | - | IntronicSNV | - | 1/1 | 1 |
14-52740441-C-G | c.847-1008C>G | - | IntronicSNV | - | 1/1 | 1 |
14-52740971-A-G | c.847-478A>G | - | IntronicSNV | - | 1/1 | 3 |
14-52741081-A-G | c.847-368A>G | - | IntronicSNV | - | 1/1 | 1 |
14-52741449-T-C | c.847T>C | p.Y283H | Missense | 2/2 | - | 1 |
14-52741452-C-T | c.850C>T | p.R284C | Missense | 2/2 | - | 6 |
14-52741453-G-A | c.851G>A | p.R284H | Missense | 2/2 | - | 3 |
14-52741454-C-T | c.852C>T | p.R284= | Synonymous | 2/2 | - | 3 |
14-52741455-G-A | c.853G>A | p.A285T | Missense | 2/2 | - | 4 |
14-52741455-G-C | c.853G>C | p.A285P | Missense | 2/2 | - | 3 |
14-52741461-T-C | c.859T>C | p.Y287H | Missense | 2/2 | - | 1 |
14-52741463-T-A | c.861T>A | p.Y287* | Nonsense | 2/2 | - | 1 |
14-52741463-T-G | c.861T>G | p.Y287* | Nonsense | 2/2 | - | 1 |
14-52741467-G-T | c.865G>T | p.A289S | Missense | 2/2 | - | 2 |
14-52741475-G-A | c.873G>A | p.K291= | Synonymous | 2/2 | - | 1 |
14-52741475-G-C | c.873G>C | p.K291N | Missense | 2/2 | - | 1 |
14-52741475-G-T | c.873G>T | p.K291N | Missense | 2/2 | - | 1 |
14-52741476-G-A | c.874G>A | p.D292N | Missense | 2/2 | - | 4 |
14-52741485-G-A | c.883G>A | p.E295K | Missense | 2/2 | - | 6 |
14-52741487-G-A | c.885G>A | p.E295= | Synonymous | 2/2 | - | 3 |
14-52741490-A-G | c.888A>G | p.K296= | Synonymous | 2/2 | - | 1 |
14-52741494-A-C | c.892A>C | p.R298= | Synonymous | 2/2 | - | 3 |
14-52741496-G-A | c.894G>A | p.R298= | Synonymous | 2/2 | - | 4 |
14-52741504-A-C | c.902A>C | p.E301A | Missense | 2/2 | - | 2 |
14-52741506-G-T | c.904G>T | p.E302* | Nonsense | 2/2 | - | 1 |
14-52741512-G-C | c.910G>C | p.E304Q | Missense | 2/2 | - | 1 |
14-52741517-C-A | c.915C>A | p.D305E | Missense | 2/2 | - | 2 |
14-52741517-C-G | c.915C>G | p.D305E | Missense | 2/2 | - | 2 |
14-52741518-C-A | c.916C>A | p.L306I | Missense | 2/2 | - | 1 |
14-52741519-T-A | c.917T>A | p.L306H | Missense | 2/2 | - | 1 |
14-52741521-C-T | c.919C>T | p.R307* | Nonsense | 2/2 | - | 6 |
14-52741522-G-T | c.920G>T | p.R307L | Missense | 2/2 | - | 1 |
14-52741526-C-T | c.924C>T | p.A308= | Synonymous | 2/2 | - | 1 |
14-52741527-T-A | c.925T>A | p.L309M | Missense | 2/2 | - | 1 |
14-52741527-T-C | c.925T>C | p.L309= | Synonymous | 2/2 | - | 2 |
14-52741529-G-A | c.927G>A | p.L309= | Synonymous | 2/2 | - | 1 |
14-52741530-C-A | c.928C>A | p.R310= | Synonymous | 2/2 | - | 1 |
14-52741530-C-G | c.928C>G | p.R310G | Missense | 2/2 | - | 2 |
14-52741530-C-T | c.928C>T | p.R310* | Nonsense | 2/2 | - | 3 |
14-52741532-A-C | c.930A>C | p.R310= | Synonymous | 2/2 | - | 1 |
14-52741532-A-G | c.930A>G | p.R310= | Synonymous | 2/2 | - | 1 |
14-52741532-A-T | c.930A>T | p.R310= | Synonymous | 2/2 | - | 1 |
14-52741531-G-A | c.929G>A | p.R310Q | Missense | 2/2 | - | 5 |
14-52741531-G-T | c.929G>T | p.R310L | Missense | 2/2 | - | 1 |
14-52741533-T-C | c.931T>C | p.F311L | Missense | 2/2 | - | 1 |
14-52741536-C-A | c.934C>A | p.L312I | Missense | 2/2 | - | 1 |
14-52741537-T-G | c.935T>G | p.L312R | Missense | 2/2 | - | 1 |
14-52741540-C-T | c.938C>T | p.S313F | Missense | 2/2 | - | 1 |
14-52741544-G-A | c.942G>A | p.V314= | Synonymous | 2/2 | - | 2 |
14-52741544-G-C | c.942G>C | p.V314= | Synonymous | 2/2 | - | 3 |
14-52741544-G-T | c.942G>T | p.V314= | Synonymous | 2/2 | - | 2 |
14-52741546-T-C | c.944T>C | p.I315T | Missense | 2/2 | - | 1 |
14-52741549-C-T | c.947C>T | p.S316L | Missense | 2/2 | - | 1 |
14-52741554-G-GGCCTCAGCCTCCCGAGTAGC | c.952_953insGCCTCAGCCTCCCGAGTAGC | p.V318Gfs*59 | Frameshift | 2/2 | - | 1 |
14-52741561-C-A | c.959C>A | p.P320H | Missense | 2/2 | - | 2 |
14-52741564-G-C | c.962G>C | p.W321S | Missense | 2/2 | - | 1 |
14-52741564-G-GA | c.962_963insA | p.W321* | Nonsense | 2/2 | - | 1 |
14-52741565-G-A | c.963G>A | p.W321* | Nonsense | 2/2 | - | 1 |
14-52741568-T-TC | c.966_967insC | p.F323Lfs*19 | Frameshift | 2/2 | - | 1 |
14-52741574-C-T | c.972C>T | p.I324= | Synonymous | 2/2 | - | 2 |
14-52741582-G-A | c.980G>A | p.R327K | Missense | 2/2 | - | 1 |
14-52741592-A-G | c.990A>G | p.V330= | Synonymous | 2/2 | - | 1 |
14-52741596-C-T | c.994C>T | p.R332W | Missense | 2/2 | - | 8 |
14-52741597-G-A | c.995G>A | p.R332Q | Missense | 2/2 | - | 8 |
14-52741597-G-T | c.995G>T | p.R332L | Missense | 2/2 | - | 2 |
14-52741617-T-C | c.1015T>C | p.F339L | Missense | 2/2 | - | 3 |
14-52741619-C-G | c.1017C>G | p.F339L | Missense | 2/2 | - | 3 |
14-52741619-C-A | c.1017C>A | p.F339L | Missense | 2/2 | - | 5 |
14-52741619-C-T | c.1017C>T | p.F339= | Synonymous | 2/2 | - | 3 |
14-52741620-A-G | c.1018A>G | p.I340V | Missense | 2/2 | - | 1 |
14-52741627-C-T | c.1025C>T | p.P342L | Missense | 2/2 | - | 2 |
14-52741629-C-T | c.1027C>T | p.L343F | Missense | 2/2 | - | 4 |
14-52741638-AGG-TGT | c.1036_1038delinsTGT | p.R346C | Missense | 2/2 | - | 1 |
14-52741639-G-T | c.1037G>T | p.R346M | Missense | 2/2 | - | 1 |
14-52741643-C-T | c.1041C>T | p.S347= | Synonymous | 2/2 | - | 1 |
14-52741644-C-A | c.1042C>A | p.R348= | Synonymous | 2/2 | - | 1 |
14-52741644-CGG-TGT | c.1042_1044delinsTGT | p.R348C | Missense | 2/2 | - | 1 |
14-52741644-C-T | c.1042C>T | p.R348W | Missense | 2/2 | - | 1 |
14-52741646-G-C | c.1044G>C | p.R348= | Synonymous | 2/2 | - | 1 |
14-52741646-G-T | c.1044G>T | p.R348= | Synonymous | 2/2 | - | 1 |
14-52741645-G-A | c.1043G>A | p.R348Q | Missense | 2/2 | - | 1 |
14-52741645-GG-AT | c.1043_1044delinsAT | p.R348H | Missense | 2/2 | - | 1 |
14-52741646-G-A | c.1044G>A | p.R348= | Synonymous | 2/2 | - | 12 |
14-52741649-C-A | c.1047C>A | p.C349* | Nonsense | 2/2 | - | 1 |
14-52741650-A-C | c.1048A>C | p.S350R | Missense | 2/2 | - | 1 |
14-52741652-C-A | c.1050C>A | p.S350R | Missense | 2/2 | - | 1 |
14-52741652-C-G | c.1050C>G | p.S350R | Missense | 2/2 | - | 1 |
14-52741653-A-G | c.1051A>G | p.N351D | Missense | 2/2 | - | 1 |
14-52741658-C-T | c.1056C>T | p.S352= | Synonymous | 2/2 | - | 3 |
14-52741669-A-G | c.1067A>G | p.E356G | Missense | 2/2 | - | 2 |
14-52741670-A-T | c.1068A>T | p.E356D | Missense | 2/2 | - | 1 |
14-52741675-G-T | c.1073G>T | p.S358I | Missense | 2/2 | - | 1 |
14-52741950-A-G | c.*268A>G | - | 3-UTRSNV | 2/2 | - | 2 |
14-52742151-G-A | c.*469G>A | - | 3-UTRSNV | 2/2 | - | 3 |
14-52742180-T-C | c.*498T>C | - | 3-UTRSNV | 2/2 | - | 2 |
14-52742369-G-A | c.*687G>A | - | 3-UTRSNV | 2/2 | - | 1 |