Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-3918475-G-A | c.*2814C>T | - | 3-UTRSNV | 8/8 | - | 3 |
12-3918552-A-C | c.*2737T>G | - | 3-UTRSNV | 8/8 | - | 1 |
12-3918552-A-G | c.*2737T>C | - | 3-UTRSNV | 8/8 | - | 1 |
12-3918722-A-AT | c.*2566_*2567insA | - | 3-UTRInsertion | 8/8 | - | 2 |
12-3918722-A-T | c.*2567T>A | - | 3-UTRSNV | 8/8 | - | 1 |
12-3918872-C-A | c.*2417G>T | - | 3-UTRSNV | 8/8 | - | 2 |
12-3919816-G-A | c.*1473C>T | - | 3-UTRSNV | 8/8 | - | 1 |
12-3919881-G-GA | c.*1407dup | - | 3-UTRInsertion | 8/8 | - | 1 |
12-3919881-G-GAAAGAGA | c.*1407_*1408insTCTCTTT | - | 3-UTRInsertion | 8/8 | - | 1 |
12-3919881-G-GAAAGAGAAAGAGA | c.*1407_*1408insTCTCTTTCTCTTT | - | 3-UTRInsertion | 8/8 | - | 1 |
12-3919954-G-A | c.*1335C>T | - | 3-UTRSNV | 8/8 | - | 1 |
12-3921299-T-C | c.1007A>G | p.D336G | Missense | 8/8 | - | 1 |
12-3921310-C-A | c.996G>T | p.E332D | Missense | 8/8 | - | 1 |
12-3921310-C-G | c.996G>C | p.E332D | Missense | 8/8 | - | 1 |
12-3921313-A-G | c.993T>C | p.P331= | Synonymous | 8/8 | - | 1 |
12-3921314-G-A | c.992C>T | p.P331L | Missense | 8/8 | - | 1 |
12-3921318-A-G | c.988T>C | p.Y330H | Missense | 8/8 | - | 1 |
12-3921319-G-A | c.987C>T | p.I329= | Synonymous | 8/8 | - | 2 |
12-3921319-G-T | c.987C>A | p.I329= | Synonymous | 8/8 | - | 2 |
12-3921320-A-T | c.986T>A | p.I329N | Missense | 8/8 | - | 1 |
12-3921325-G-A | c.981C>T | p.N327= | Synonymous | 8/8 | - | 2 |
12-3921329-G-A | c.977C>T | p.A326V | Missense | 8/8 | - | 1 |
12-3921333-CA-C | c.972del | p.F324Lfs*11 | Frameshift | 8/8 | - | 1 |
12-3921333-C-CA | c.972dup | p.D325* | Nonsense | 8/8 | - | 1 |
12-3921339-C-A | c.967G>T | p.V323F | Missense | 8/8 | - | 1 |
12-3921342-C-A | c.964G>T | p.V322L | Missense | 8/8 | - | 1 |
12-3921342-C-G | c.964G>C | p.V322L | Missense | 8/8 | - | 1 |
12-3921342-C-T | c.964G>A | p.V322M | Missense | 8/8 | - | 1 |
12-3921349-C-CT | c.956dup | p.I320Dfs*6 | Frameshift | 8/8 | - | 1 |
12-3921353-G-A | c.953C>T | p.P318L | Missense | 8/8 | - | 1 |
12-3921355-G-A | c.951C>T | p.N317= | Synonymous | 8/8 | - | 1 |
12-3921356-T-A | c.950A>T | p.N317I | Missense | 8/8 | - | 2 |
12-3921376-G-A | c.930C>T | p.S310= | Synonymous | 8/8 | - | 1 |
12-3921383-T-C | c.923A>G | p.Y308C | Missense | 8/8 | - | 1 |
12-3921387-A-C | c.919T>G | p.L307V | Missense | 8/8 | - | 1 |
12-3921397-G-A | c.909C>T | p.S303= | Synonymous | 8/8 | - | 1 |
12-3921401-C-T | c.905G>A | p.G302E | Missense | 8/8 | - | 7 |
12-3921402-C-A | c.904G>T | p.G302W | Missense | 8/8 | - | 1 |
12-3921402-C-G | c.904G>C | p.G302R | Missense | 8/8 | - | 3 |
12-3921402-C-T | c.904G>A | p.G302R | Missense | 8/8 | - | 2 |
12-3921403-G-A | c.903C>T | p.D301= | Synonymous | 8/8 | - | 1 |
12-3921407-T-A | c.899A>T | p.K300I | Missense | 8/8 | - | 1 |
12-3921413-G-A | c.893C>T | p.P298L | Missense | 8/8 | - | 2 |
12-3921414-G-A | c.892C>T | p.P298S | Missense | 8/8 | - | 5 |
12-3921416-G-A | c.890C>T | p.P297L | Missense | 8/8 | - | 2 |
12-3921420-G-A | c.886C>T | p.R296* | Nonsense | 8/8 | - | 5 |
12-3921420-G-C | c.886C>G | p.R296G | Missense | 8/8 | - | 1 |
12-3921424-G-A | c.882C>T | p.Y294= | Synonymous | 8/8 | - | 2 |
12-3921427-T-C | c.879A>G | p.K293= | Synonymous | 8/8 | - | 1 |
12-3921428-T-C | c.878A>G | p.K293R | Missense | 8/8 | - | 1 |
12-3921430-G-A | c.876C>T | p.S292= | Synonymous | 8/8 | - | 1 |
12-3921430-G-C | c.876C>G | p.S292= | Synonymous | 8/8 | - | 1 |
12-3921430-G-T | c.876C>A | p.S292= | Synonymous | 8/8 | - | 1 |
12-3921434-T-C | c.872A>G | p.D291G | Missense | 8/8 | - | 1 |
12-3921435-C-A | c.871G>T | p.D291Y | Missense | 8/8 | - | 1 |
12-3921438-C-G | c.868G>C | p.G290R | Missense | 8/8 | - | 1 |
12-3921438-C-T | c.868G>A | p.G290R | Missense | 8/8 | - | 1 |
12-3921453-C-T | c.853G>A | p.G285R | Missense | 8/8 | - | 1 |
12-3921462-C-T | c.844G>A | p.V282M | Missense | 8/8 | - | 1 |
12-3921464-C-A | c.842G>T | p.R281L | Missense | 8/8 | - | 2 |
12-3921465-G-A | c.841C>T | p.R281* | Nonsense | 8/8 | - | 1 |
12-3921471-G-A | c.835C>T | p.L279F | Missense | 8/8 | - | 1 |
12-3921482-T-G | c.824A>C | p.K275T | Missense | 8/8 | - | 1 |
12-3921487-T-A | c.819A>T | p.T273= | Synonymous | 8/8 | - | 1 |
12-3921487-T-C | c.819A>G | p.T273= | Synonymous | 8/8 | - | 1 |
12-3921487-T-G | c.819A>C | p.T273= | Synonymous | 8/8 | - | 1 |
12-3921500-T-TG | c.805dup | p.H269Pfs*4 | Frameshift | 8/8 | - | 1 |
12-3921503-C-T | c.803G>A | p.R268Q | Missense | 8/8 | - | 2 |
12-3921504-G-A | c.802C>T | p.R268W | Missense | 8/8 | - | 1 |
12-3921508-T-C | c.798A>G | p.Q266= | Synonymous | 8/8 | - | 1 |
12-3921524-T-C | c.782A>G | p.H261R | Missense | 8/8 | - | 1 |
12-3921530-T-G | c.776A>C | p.Q259P | Missense | 8/8 | - | 1 |
12-3921542-C-A | c.764G>T | p.G255V | Missense | 8/8 | - | 1 |
12-3921545-T-C | c.761A>G | p.H254R | Missense | 8/8 | - | 1 |
12-3921558-C-A | c.748G>T | p.D250Y | Missense | 8/8 | - | 1 |
12-3921560-T-C | c.746A>G | p.K249R | Missense | 8/8 | - | 1 |
12-3921561-T-C | c.745A>G | p.K249E | Missense | 8/8 | - | 2 |
12-3921570-G-A | c.736C>T | p.R246C | Missense | 8/8 | - | 2 |
12-3921570-G-T | c.736C>A | p.R246S | Missense | 8/8 | - | 1 |
12-3921573-T-C | c.733A>G | p.S245G | Missense | 8/8 | - | 1 |
12-3921577-A-C | c.729T>G | p.Y243* | Nonsense | 8/8 | - | 2 |
12-3921577-A-T | c.729T>A | p.Y243* | Nonsense | 8/8 | - | 2 |
12-3921589-TCT-ACA | c.715_717delinsTGT | p.R239C | Missense | 8/8 | - | 2 |
12-3922444-C-A | c.700+759G>T | - | IntronicSNV | - | 7/7 | 1 |
12-3923061-G-A | c.700+142C>T | - | IntronicSNV | - | 7/7 | 1 |
12-3923203-C-A | c.700G>T | p.G234* | Nonsense | 7/8 | - | 5 |
12-3923203-C-G | c.700G>C | p.G234R | Missense | 7/8 | - | 2 |
12-3923203-C-T | c.700G>A | p.G234R | Missense | 7/8 | - | 4 |
12-3923210-A-C | c.693T>G | p.F231L | Missense | 7/8 | - | 1 |
12-3923212-A-G | c.691T>C | p.F231L | Missense | 7/8 | - | 1 |
12-3923216-A-G | c.687T>C | p.A229= | Synonymous | 7/8 | - | 1 |
12-3923217-G-T | c.686C>A | p.A229D | Missense | 7/8 | - | 1 |
12-3923223-T-A | c.680A>T | p.H227L | Missense | 7/8 | - | 2 |
12-3923225-T-C | c.678A>G | p.I226M | Missense | 7/8 | - | 1 |
12-3923232-T-C | c.671A>G | p.N224S | Missense | 7/8 | - | 1 |
12-3923240-C-A | c.663G>T | p.W221C | Missense | 7/8 | - | 1 |
12-3923240-C-G | c.663G>C | p.W221C | Missense | 7/8 | - | 1 |
12-3923240-C-T | c.663G>A | p.W221* | Nonsense | 7/8 | - | 1 |
12-3923241-C-T | c.662G>A | p.W221* | Nonsense | 7/8 | - | 1 |
12-3923243-A-G | c.660T>C | p.D220= | Synonymous | 7/8 | - | 1 |
12-3923254-G-A | c.649C>T | p.H217Y | Missense | 7/8 | - | 1 |
12-3923263-T-G | c.640A>C | p.I214L | Missense | 7/8 | - | 1 |
12-3923269-C-T | c.634G>A | p.E212K | Missense | 7/8 | - | 1 |
12-3923283-C-T | c.620G>A | p.S207N | Missense | 7/8 | - | 1 |
12-3923289-C-G | c.614G>C | p.G205A | Missense | 7/8 | - | 1 |
12-3923292-T-A | c.611A>T | p.H204L | Missense | 7/8 | - | 1 |
12-3923292-T-G | c.611A>C | p.H204P | Missense | 7/8 | - | 1 |
12-3923304-T-C | c.599A>G | p.Q200R | Missense | 7/8 | - | 1 |
12-3923320-G-A | c.583C>T | p.P195S | Missense | 7/8 | - | 1 |
12-3923325-C-T | c.578G>A | p.G193D | Missense | 7/8 | - | 1 |
12-3923327-T-A | c.576A>T | p.R192S | Missense | 7/8 | - | 1 |
12-3923327-T-G | c.576A>C | p.R192S | Missense | 7/8 | - | 1 |
12-3923328-CT-C | c.574del | p.R192Efs*32 | Frameshift | 7/8 | - | 1 |
12-3923337-T-C | c.566A>G | p.K189R | Missense | 7/8 | - | 1 |
12-3923342-C-A | c.561G>T | p.Q187H | Missense | 7/8 | - | 1 |
12-3923342-C-G | c.561G>C | p.Q187H | Missense | 7/8 | - | 1 |
12-3923346-G-A | c.557C>T | p.A186V | Missense | 7/8 | - | 1 |
12-3923349-T-C | c.554A>G | p.K185R | Missense | 7/8 | - | 1 |
12-3923353-T-C | c.550A>G | p.K184E | Missense | 7/8 | - | 1 |
12-3924358-A-C | c.549-1004T>G | - | IntronicSNV | - | 6/7 | 1 |
12-3924367-C-G | c.549-1013G>C | - | IntronicSNV | - | 6/7 | 3 |
12-3931026-G-A | c.548+13C>T | - | IntronicSNV | - | 6/7 | 1 |
12-3931045-A-C | c.542T>G | p.F181C | Missense | 6/8 | - | 1 |
12-3931045-A-G | c.542T>C | p.F181S | Missense | 6/8 | - | 1 |
12-3931047-G-C | c.540C>G | p.F180L | Missense | 6/8 | - | 2 |
12-3931047-G-T | c.540C>A | p.F180L | Missense | 6/8 | - | 2 |
12-3931049-A-C | c.538T>G | p.F180V | Missense | 6/8 | - | 1 |
12-3931049-A-G | c.538T>C | p.F180L | Missense | 6/8 | - | 2 |
12-3931052-C-A | c.535G>T | p.E179* | Nonsense | 6/8 | - | 1 |
12-3931054-C-A | c.533G>T | p.W178L | Missense | 6/8 | - | 2 |
12-3931058-A-C | c.529T>G | p.L177V | Missense | 6/8 | - | 1 |
12-3931059-A-C | c.528T>G | p.D176E | Missense | 6/8 | - | 1 |
12-3931059-A-T | c.528T>A | p.D176E | Missense | 6/8 | - | 1 |
12-3931070-G-C | c.517C>G | p.Q173E | Missense | 6/8 | - | 1 |
12-3931092-TCG-ACA | c.493_495delinsTGT | p.R165C | Missense | 6/8 | - | 2 |
12-3931093-C-A | c.494G>T | p.R165L | Missense | 6/8 | - | 2 |
12-3931093-C-T | c.494G>A | p.R165Q | Missense | 6/8 | - | 12 |
12-3931094-G-A | c.493C>T | p.R165* | Nonsense | 6/8 | - | 3 |
12-3931094-G-T | c.493C>A | p.R165= | Synonymous | 6/8 | - | 1 |
12-3931099-C-T | c.488G>A | p.R163H | Missense | 6/8 | - | 1 |
12-3931100-G-A | c.487C>T | p.R163C | Missense | 6/8 | - | 4 |
12-3931101-A-G | c.486T>C | p.D162= | Synonymous | 6/8 | - | 1 |
12-3931103-C-A | c.484G>T | p.D162Y | Missense | 6/8 | - | 1 |
12-3931108-G-A | c.479C>T | p.T160M | Missense | 6/8 | - | 5 |
12-3931113-C-A | c.474G>T | p.G158= | Synonymous | 6/8 | - | 2 |
12-3931114-C-T | c.473G>A | p.G158E | Missense | 6/8 | - | 1 |
12-3931119-G-A | c.468C>T | p.L156= | Synonymous | 6/8 | - | 2 |
12-3931119-G-C | c.468C>G | p.L156= | Synonymous | 6/8 | - | 1 |
12-3931119-G-T | c.468C>A | p.L156= | Synonymous | 6/8 | - | 1 |
12-3931121-G-A | c.466C>T | p.L156F | Missense | 6/8 | - | 1 |
12-3931121-G-T | c.466C>A | p.L156I | Missense | 6/8 | - | 1 |
12-3931123-T-A | c.464A>T | p.N155I | Missense | 6/8 | - | 1 |
12-3931124-T-C | c.463A>G | p.N155D | Missense | 6/8 | - | 1 |
12-3931149-T-A | c.438A>T | p.Q146H | Missense | 6/8 | - | 1 |
12-3931149-T-G | c.438A>C | p.Q146H | Missense | 6/8 | - | 1 |
12-3931156-T-C | c.431A>G | p.H144R | Missense | 6/8 | - | 2 |
12-3931157-G-A | c.430C>T | p.H144Y | Missense | 6/8 | - | 1 |
12-3931160-G-T | c.427C>A | p.L143M | Missense | 6/8 | - | 1 |
12-3931251-C-A | c.417G>T | p.Q139H | Missense | 5/8 | - | 2 |
12-3931251-C-G | c.417G>C | p.Q139H | Missense | 5/8 | - | 1 |
12-3931251-C-T | c.417G>A | p.Q139= | Synonymous | 5/8 | - | 1 |
12-3931253-G-A | c.415C>T | p.Q139* | Nonsense | 5/8 | - | 3 |
12-3931255-T-A | c.413A>T | p.Y138F | Missense | 5/8 | - | 1 |
12-3931258-G-A | c.410C>T | p.P137L | Missense | 5/8 | - | 1 |
12-3931269-A-C | c.399T>G | p.N133K | Missense | 5/8 | - | 1 |
12-3931269-A-T | c.399T>A | p.N133K | Missense | 5/8 | - | 1 |
12-3931275-A-G | c.393T>C | p.N131= | Synonymous | 5/8 | - | 1 |
12-3931277-T-TA | c.390_391insT | p.N131* | Nonsense | 5/8 | - | 1 |
12-3931289-G-A | c.379C>T | p.P127S | Missense | 5/8 | - | 3 |
12-3931291-G-A | c.377C>T | p.P126L | Missense | 5/8 | - | 1 |
12-3931292-G-A | c.376C>T | p.P126S | Missense | 5/8 | - | 1 |
12-3931295-T-C | c.373A>G | p.M125V | Missense | 5/8 | - | 1 |
12-3931303-G-A | c.365C>T | p.A122V | Missense | 5/8 | - | 2 |
12-3931303-G-T | c.365C>A | p.A122D | Missense | 5/8 | - | 1 |
12-3931309-T-C | c.359A>G | p.N120S | Missense | 5/8 | - | 1 |
12-3931537-A-G | c.345-214T>C | - | IntronicSNV | - | 4/7 | 1 |
12-3935326-G-A | c.342C>T | p.F114= | Synonymous | 4/8 | - | 2 |
12-3935335-G-A | c.333C>T | p.I111= | Synonymous | 4/8 | - | 2 |
12-3935339-G-T | c.329C>A | p.S110Y | Missense | 4/8 | - | 1 |
12-3935347-G-A | c.321C>T | p.A107= | Synonymous | 4/8 | - | 1 |
12-3935351-C-T | c.317G>A | p.R106K | Missense | 4/8 | - | 1 |
12-3935363-C-T | c.305G>A | p.R102H | Missense | 4/8 | - | 1 |
12-3935364-G-A | c.304C>T | p.R102C | Missense | 4/8 | - | 1 |
12-3935364-G-T | c.304C>A | p.R102S | Missense | 4/8 | - | 1 |
12-3935365-C-A | c.303G>T | p.Q101H | Missense | 4/8 | - | 1 |
12-3935365-C-G | c.303G>C | p.Q101H | Missense | 4/8 | - | 1 |
12-3935375-GT-CC | c.292_293delinsGG | p.T98G | Missense | 4/8 | - | 3 |
12-3935380-G-A | c.288C>T | p.L96= | Synonymous | 4/8 | - | 2 |
12-3935380-G-C | c.288C>G | p.L96= | Synonymous | 4/8 | - | 1 |
12-3935380-G-T | c.288C>A | p.L96= | Synonymous | 4/8 | - | 1 |
12-3935382-G-C | c.286C>G | p.L96V | Missense | 4/8 | - | 2 |
12-3935386-C-T | c.282G>A | p.M94I | Missense | 4/8 | - | 1 |
12-3935395-C-A | c.273G>T | p.M91I | Missense | 4/8 | - | 1 |
12-3935395-C-G | c.273G>C | p.M91I | Missense | 4/8 | - | 1 |
12-3935395-C-T | c.273G>A | p.M91I | Missense | 4/8 | - | 1 |
12-3938075-C-A | c.268+1G>T | - | IntronicSNV | - | 3/7 | 1 |
12-3938078-G-T | c.266C>A | p.A89E | Missense | 3/8 | - | 1 |
12-3938098-G-A | c.246C>T | p.F82= | Synonymous | 3/8 | - | 2 |
12-3938104-G-A | c.240C>T | p.S80= | Synonymous | 3/8 | - | 2 |
12-3938104-G-C | c.240C>G | p.S80= | Synonymous | 3/8 | - | 2 |
12-3938104-G-T | c.240C>A | p.S80= | Synonymous | 3/8 | - | 2 |
12-3938116-A-C | c.228T>G | p.S76= | Synonymous | 3/8 | - | 1 |
12-3938117-G-T | c.227C>A | p.S76Y | Missense | 3/8 | - | 5 |
12-3938119-A-C | c.225T>G | p.I75M | Missense | 3/8 | - | 1 |
12-3938125-G-A | c.219C>T | p.G73= | Synonymous | 3/8 | - | 2 |
12-3938126-C-T | c.218G>A | p.G73D | Missense | 3/8 | - | 1 |
12-3938131-A-G | c.213T>C | p.P71= | Synonymous | 3/8 | - | 1 |
12-3938132-G-A | c.212C>T | p.P71L | Missense | 3/8 | - | 1 |
12-3938134-G-A | c.210C>T | p.N70= | Synonymous | 3/8 | - | 1 |
12-3938135-T-G | c.209A>C | p.N70T | Missense | 3/8 | - | 1 |
12-3938145-A-C | c.199T>G | p.F67V | Missense | 3/8 | - | 1 |
12-3938147-C-T | c.197G>A | p.S66N | Missense | 3/8 | - | 1 |
12-3938154-C-A | c.190G>T | p.E64* | Nonsense | 3/8 | - | 1 |
12-3938154-C-T | c.190G>A | p.E64K | Missense | 3/8 | - | 1 |
12-3938155-G-C | c.189C>G | p.I63M | Missense | 3/8 | - | 1 |
12-3938164-A-T | c.180T>A | p.S60R | Missense | 3/8 | - | 1 |
12-3938165-C-T | c.179G>A | p.S60N | Missense | 3/8 | - | 1 |
12-3938171-A-G | c.173T>C | p.V58A | Missense | 3/8 | - | 2 |
12-3938186-T-C | c.158A>G | p.N53S | Missense | 3/8 | - | 1 |
12-3938189-G-A | c.155C>T | p.T52I | Missense | 3/8 | - | 1 |
12-3938194-C-A | c.150G>T | p.P50= | Synonymous | 3/8 | - | 3 |
12-3938194-C-G | c.150G>C | p.P50= | Synonymous | 3/8 | - | 3 |
12-3938194-C-T | c.150G>A | p.P50= | Synonymous | 3/8 | - | 3 |
12-3938366-G-A | c.148-170C>T | - | IntronicSNV | - | 2/7 | 2 |
12-3938778-C-T | c.147+278G>A | - | IntronicSNV | - | 2/7 | 1 |
12-3939020-G-A | c.147+36C>T | - | IntronicSNV | - | 2/7 | 1 |
12-3939056-C-A | c.147G>T | p.Q49H | Missense | 2/8 | - | 1 |
12-3939056-C-G | c.147G>C | p.Q49H | Missense | 2/8 | - | 1 |
12-3939057-T-C | c.146A>G | p.Q49R | Missense | 2/8 | - | 2 |
12-3939060-A-G | c.143T>C | p.F48S | Missense | 2/8 | - | 1 |
12-3939059-A-C | c.144T>G | p.F48L | Missense | 2/8 | - | 1 |
12-3939059-A-T | c.144T>A | p.F48L | Missense | 2/8 | - | 1 |
12-3939061-A-G | c.142T>C | p.F48L | Missense | 2/8 | - | 2 |
12-3939074-C-T | c.129G>A | p.G43= | Synonymous | 2/8 | - | 1 |
12-3939083-TGC-CCA | c.118_120delinsTGG | p.A40W | Missense | 2/8 | - | 1 |
12-3939084-G-T | c.119C>A | p.A40E | Missense | 2/8 | - | 1 |
12-3939095-C-T | c.108G>A | p.W36* | Nonsense | 2/8 | - | 2 |
12-3939099-C-T | c.104G>A | p.G35D | Missense | 2/8 | - | 1 |
12-3939107-GG-CT | c.95_96delinsAG | p.T32K | Missense | 2/8 | - | 1 |
12-3939109-T-G | c.94A>C | p.T32P | Missense | 2/8 | - | 1 |
12-3939115-A-G | c.88T>C | p.S30P | Missense | 2/8 | - | 1 |
12-3939117-G-A | c.86C>T | p.T29M | Missense | 2/8 | - | 1 |
12-3939117-G-T | c.86C>A | p.T29K | Missense | 2/8 | - | 3 |
12-3939120-T-C | c.83A>G | p.D28G | Missense | 2/8 | - | 1 |
12-3939121-C-G | c.82G>C | p.D28H | Missense | 2/8 | - | 5 |
12-3939126-T-C | c.77A>G | p.D26G | Missense | 2/8 | - | 1 |
12-3939127-C-T | c.76G>A | p.D26N | Missense | 2/8 | - | 1 |
12-3939141-T-C | c.62A>G | p.N21S | Missense | 2/8 | - | 1 |
12-3939144-G-C | c.59C>G | p.T20R | Missense | 2/8 | - | 1 |
12-3939151-T-A | c.52A>T | p.K18* | Nonsense | 2/8 | - | 2 |
12-3939151-T-C | c.52A>G | p.K18E | Missense | 2/8 | - | 2 |
12-3939153-G-T | c.50C>A | p.S17Y | Missense | 2/8 | - | 1 |
12-3939155-A-G | c.48T>C | p.F16= | Synonymous | 2/8 | - | 1 |
12-3939160-A-T | c.43T>A | p.L15I | Missense | 2/8 | - | 4 |
12-3939163-C-A | c.40G>T | p.E14* | Nonsense | 2/8 | - | 3 |
12-3939163-C-G | c.40G>C | p.E14Q | Missense | 2/8 | - | 1 |
12-3939168-G-C | c.35C>G | p.A12G | Missense | 2/8 | - | 2 |
12-3939170-T-C | c.33A>G | p.K11= | Synonymous | 2/8 | - | 2 |
12-3939175-G-C | c.28C>G | p.H10D | Missense | 2/8 | - | 1 |
12-3939182-C-A | c.21G>T | p.E7D | Missense | 2/8 | - | 1 |
12-3939182-C-G | c.21G>C | p.E7D | Missense | 2/8 | - | 1 |
12-3944291-A-C | c.19-5107T>G | - | IntronicSNV | - | 1/7 | 1 |
12-3945202-T-C | c.19-6018A>G | - | IntronicSNV | - | 1/7 | 1 |
12-3948282-C-T | c.19-9098G>A | - | IntronicSNV | - | 1/7 | 1 |
12-3948550-A-G | c.19-9366T>C | - | IntronicSNV | - | 1/7 | 6 |
12-3948619-C-T | c.19-9435G>A | - | IntronicSNV | - | 1/7 | 3 |
12-3948718-G-A | c.19-9534C>T | - | IntronicSNV | - | 1/7 | 7 |
12-3949101-A-G | c.19-9917T>C | - | IntronicSNV | - | 1/7 | 3 |
12-3949498-T-A | c.19-10314A>T | - | IntronicSNV | - | 1/7 | 2 |
12-3950182-G-T | c.19-10998C>A | - | IntronicSNV | - | 1/7 | 3 |
12-3950184-C-G | c.19-11000G>C | - | IntronicSNV | - | 1/7 | 3 |
12-3950184-C-T | c.19-11000G>A | - | IntronicSNV | - | 1/7 | 3 |
12-3950977-T-C | c.19-11793A>G | - | IntronicSNV | - | 1/7 | 4 |
12-3951168-C-T | c.19-11984G>A | - | IntronicSNV | - | 1/7 | 1 |
12-3951309-A-G | c.19-12125T>C | - | IntronicSNV | - | 1/7 | 3 |
12-3951557-G-T | c.19-12373C>A | - | IntronicSNV | - | 1/7 | 1 |
12-3953308-C-T | c.19-14124G>A | - | IntronicSNV | - | 1/7 | 1 |
12-3953940-C-T | c.19-14756G>A | - | IntronicSNV | - | 1/7 | 1 |
12-3955141-A-G | c.19-15957T>C | - | IntronicSNV | - | 1/7 | 1 |
12-3963990-CA-C | c.18+18387del | - | IntronicDeletion | - | 1/7 | 1 |
12-3969362-C-T | c.18+13016G>A | - | IntronicSNV | - | 1/7 | 1 |
12-3979465-T-C | c.18+2913A>G | - | IntronicSNV | - | 1/7 | 1 |
12-3979842-GT-G | c.18+2535del | - | IntronicDeletion | - | 1/7 | 1 |
12-3982326-T-C | c.18+52A>G | - | IntronicSNV | - | 1/7 | 1 |
12-3982384-C-A | c.12G>T | p.A4= | Synonymous | 1/8 | - | 2 |
12-3982384-C-G | c.12G>C | p.A4= | Synonymous | 1/8 | - | 2 |
12-3982384-C-T | c.12G>A | p.A4= | Synonymous | 1/8 | - | 3 |
12-3982393-C-A | c.3G>T | p.M1? | Missense | 1/8 | - | 2 |
12-3982393-C-G | c.3G>C | p.M1? | Missense | 1/8 | - | 2 |
12-3982393-C-T | c.3G>A | p.M1? | Missense | 1/8 | - | 2 |
12-3982475-C-T | c.-80G>A | - | 5-UTRSNV | 1/8 | - | 5 |
12-3982482-C-T | c.-87G>A | - | 5-UTRSNV | 1/8 | - | 1 |
12-3982536-C-A | c.-141G>T | - | 5-UTRSNV | 1/8 | - | 2 |
12-3982536-C-G | c.-141G>C | - | 5-UTRSNV | 1/8 | - | 2 |
12-3982536-C-T | c.-141G>A | - | 5-UTRSNV | 1/8 | - | 2 |