Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
X-12924826-A-G | c.1A>G | p.M1? | Missense | 1/2 | - | 18 |
X-12924827-T-G | c.2T>G | p.M1? | Missense | 1/2 | - | 1 |
X-12927186-T-A | c.3+2358T>A | - | IntronicSNV | - | 1/1 | 3 |
X-12927759-G-A | c.3+2931G>A | - | IntronicSNV | - | 1/1 | 5 |
X-12927947-T-C | c.3+3119T>C | - | IntronicSNV | - | 1/1 | 9 |
X-12929249-G-C | c.3+4421G>C | - | IntronicSNV | - | 1/1 | 1 |
X-12931972-C-T | c.4-5191C>T | - | IntronicSNV | - | 1/1 | 2 |
X-12932334-C-T | c.4-4829C>T | - | IntronicSNV | - | 1/1 | 2 |
X-12932441-G-A | c.4-4722G>A | - | IntronicSNV | - | 1/1 | 1 |
X-12932531-C-T | c.4-4632C>T | - | IntronicSNV | - | 1/1 | 1 |
X-12934215-G-A | c.4-2948G>A | - | IntronicSNV | - | 1/1 | 1 |
X-12935058-C-T | c.4-2105C>T | - | IntronicSNV | - | 1/1 | 5 |
X-12935112-G-T | c.4-2051G>T | - | IntronicSNV | - | 1/1 | 1 |
X-12935998-A-T | c.4-1165A>T | - | IntronicSNV | - | 1/1 | 1 |
X-12936948-A-G | c.4-215A>G | - | IntronicSNV | - | 1/1 | 1 |
X-12937165-A-G | c.6A>G | p.E2= | Synonymous | 2/2 | - | 1 |
X-12937167-A-G | c.8A>G | p.N3S | Missense | 2/2 | - | 1 |
X-12937168-C-A | c.9C>A | p.N3K | Missense | 2/2 | - | 3 |
X-12937168-C-G | c.9C>G | p.N3K | Missense | 2/2 | - | 2 |
X-12937170-T-C | c.11T>C | p.M4T | Missense | 2/2 | - | 1 |
X-12937173-T-C | c.14T>C | p.F5S | Missense | 2/2 | - | 1 |
X-12937174-C-T | c.15C>T | p.F5= | Synonymous | 2/2 | - | 1 |
X-12937175-C-T | c.16C>T | p.L6F | Missense | 2/2 | - | 1 |
X-12937178-C-T | c.19C>T | p.Q7* | Nonsense | 2/2 | - | 2 |
X-12937182-C-A | c.23C>A | p.S8* | Nonsense | 2/2 | - | 1 |
X-12937183-G-A | c.24G>A | p.S8= | Synonymous | 2/2 | - | 2 |
X-12937183-G-C | c.24G>C | p.S8= | Synonymous | 2/2 | - | 1 |
X-12937183-G-T | c.24G>T | p.S8= | Synonymous | 2/2 | - | 1 |
X-12937187-A-G | c.28A>G | p.M10V | Missense | 2/2 | - | 13 |
X-12937187-ATG-TTT | c.28_30delinsTTT | p.M10F | Missense | 2/2 | - | 1 |
X-12937189-G-A | c.30G>A | p.M10I | Missense | 2/2 | - | 1 |
X-12937189-G-C | c.30G>C | p.M10I | Missense | 2/2 | - | 1 |
X-12937189-G-T | c.30G>T | p.M10I | Missense | 2/2 | - | 1 |
X-12937190-C-T | c.31C>T | p.L11= | Synonymous | 2/2 | - | 1 |
X-12937194-CC-TG | c.35_36delinsTG | p.T12M | Missense | 2/2 | - | 1 |
X-12937204-C-T | c.45C>T | p.F15= | Synonymous | 2/2 | - | 1 |
X-12937208-CTA-TTT | c.49_51delinsTTT | p.L17F | Missense | 2/2 | - | 1 |
X-12937211-A-G | c.52A>G | p.I18V | Missense | 2/2 | - | 2 |
X-12937218-G-A | c.59G>A | p.G20D | Missense | 2/2 | - | 3 |
X-12937219-T-A | c.60T>A | p.G20= | Synonymous | 2/2 | - | 1 |
X-12937219-T-C | c.60T>C | p.G20= | Synonymous | 2/2 | - | 1 |
X-12937219-T-G | c.60T>G | p.G20= | Synonymous | 2/2 | - | 1 |
X-12937221-C-T | c.62C>T | p.S21F | Missense | 2/2 | - | 2 |
X-12937222-C-A | c.63C>A | p.S21= | Synonymous | 2/2 | - | 2 |
X-12937222-C-G | c.63C>G | p.S21= | Synonymous | 2/2 | - | 1 |
X-12937222-C-T | c.63C>T | p.S21= | Synonymous | 2/2 | - | 1 |
X-12937223-TG-CT | c.64_65delinsCT | p.C22L | Missense | 2/2 | - | 1 |
X-12937232-TGCGCC-T | c.75_79del | p.C25* | Frameshift | 2/2 | - | 1 |
X-12937234-C-T | c.75C>T | p.C25= | Synonymous | 2/2 | - | 4 |
X-12937235-GC-TG | c.76_77delinsTG | p.A26C | Missense | 2/2 | - | 1 |
X-12937236-C-A | c.77C>A | p.A26D | Missense | 2/2 | - | 1 |
X-12937236-C-T | c.77C>T | p.A26V | Missense | 2/2 | - | 1 |
X-12937237-C-T | c.78C>T | p.A26= | Synonymous | 2/2 | - | 1 |
X-12937238-G-A | c.79G>A | p.E27K | Missense | 2/2 | - | 2 |
X-12937240-A-C | c.81A>C | p.E27D | Missense | 2/2 | - | 1 |
X-12937240-A-T | c.81A>T | p.E27D | Missense | 2/2 | - | 1 |
X-12937241-G-A | c.82G>A | p.E28K | Missense | 2/2 | - | 1 |
X-12937242-A-G | c.83A>G | p.E28G | Missense | 2/2 | - | 1 |
X-12937251-C-T | c.92C>T | p.S31F | Missense | 2/2 | - | 2 |
X-12937253-AG-GC | c.94_95delinsGC | p.R32A | Missense | 2/2 | - | 1 |
X-12937262-CC-GG | c.103_104inv | p.P35G | Missense | 2/2 | - | 1 |
X-12937262-C-T | c.103C>T | p.P35S | Missense | 2/2 | - | 1 |
X-12937272-A-G | c.113A>G | p.E38G | Missense | 2/2 | - | 5 |
X-12937292-G-A | c.133G>A | p.V45I | Missense | 2/2 | - | 1 |
X-12937295-A-G | c.136A>G | p.I46V | Missense | 2/2 | - | 1 |
X-12937298-GCA-ATG | c.139_141delinsATG | p.A47M | Missense | 2/2 | - | 1 |
X-12937299-C-T | c.140C>T | p.A47V | Missense | 2/2 | - | 2 |
X-12937301-G-A | c.142G>A | p.E48K | Missense | 2/2 | - | 1 |
X-12937316-CGA-ATG | c.157_159delinsATG | p.R53M | Missense | 2/2 | - | 1 |
X-12937316-CG-GA | c.157_158delinsGA | p.R53E | Missense | 2/2 | - | 1 |
X-12937316-C-T | c.157C>T | p.R53* | Nonsense | 2/2 | - | 1 |
X-12937317-G-C | c.158G>C | p.R53P | Missense | 2/2 | - | 1 |
X-12937325-G-A | c.166G>A | p.E56K | Missense | 2/2 | - | 5 |
X-12937326-A-G | c.167A>G | p.E56G | Missense | 2/2 | - | 2 |
X-12937331-C-T | c.172C>T | p.P58S | Missense | 2/2 | - | 1 |
X-12937337-A-G | c.178A>G | p.T60A | Missense | 2/2 | - | 2 |
X-12937338-C-T | c.179C>T | p.T60M | Missense | 2/2 | - | 1 |
X-12937339-G-A | c.180G>A | p.T60= | Synonymous | 2/2 | - | 1 |
X-12937339-G-C | c.180G>C | p.T60= | Synonymous | 2/2 | - | 1 |
X-12937339-G-T | c.180G>T | p.T60= | Synonymous | 2/2 | - | 1 |
X-12937342-G-A | c.183G>A | p.V61= | Synonymous | 2/2 | - | 2 |
X-12937342-G-C | c.183G>C | p.V61= | Synonymous | 2/2 | - | 2 |
X-12937342-G-T | c.183G>T | p.V61= | Synonymous | 2/2 | - | 2 |
X-12937347-A-G | c.188A>G | p.K63R | Missense | 2/2 | - | 3 |
X-12937349-T-C | c.190T>C | p.Y64H | Missense | 2/2 | - | 1 |
X-12937356-CA-TG | c.197_198inv | p.T66M | Missense | 2/2 | - | 1 |
X-12937357-A-C | c.198A>C | p.T66= | Synonymous | 2/2 | - | 1 |
X-12937357-A-G | c.198A>G | p.T66= | Synonymous | 2/2 | - | 1 |
X-12937357-A-T | c.198A>T | p.T66= | Synonymous | 2/2 | - | 1 |
X-12937362-T-C | c.203T>C | p.L68P | Missense | 2/2 | - | 1 |
X-12937375-T-A | c.216T>A | p.D72E | Missense | 2/2 | - | 1 |
X-12937375-T-G | c.216T>G | p.D72E | Missense | 2/2 | - | 1 |
X-12937380-T-A | c.221T>A | p.F74Y | Missense | 2/2 | - | 1 |
X-12937380-T-G | c.221T>G | p.F74C | Missense | 2/2 | - | 2 |
X-12937381-C-T | c.222C>T | p.F74= | Synonymous | 2/2 | - | 1 |
X-12937385-A-G | c.226A>G | p.T76A | Missense | 2/2 | - | 1 |
X-12937389-A-G | c.230A>G | p.H77R | Missense | 2/2 | - | 3 |
X-12937392-T-C | c.233T>C | p.I78T | Missense | 2/2 | - | 1 |
X-12937395-C-T | c.236C>T | p.T79M | Missense | 2/2 | - | 1 |
X-12937396-G-A | c.237G>A | p.T79= | Synonymous | 2/2 | - | 2 |
X-12937400-G-A | c.241G>A | p.E81K | Missense | 2/2 | - | 2 |
X-12937404-CA-TT | c.245_246delinsTT | p.S82F | Missense | 2/2 | - | 2 |
X-12937404-C-G | c.245C>G | p.S82* | Nonsense | 2/2 | - | 1 |
X-12937404-C-T | c.245C>T | p.S82L | Missense | 2/2 | - | 1 |
X-12937408-T-TTAA | c.249_250insTAA | p.F83_Q84ins* | InFrameInsertion | 2/2 | - | 1 |
X-12937412-G-A | c.253G>A | p.G85R | Missense | 2/2 | - | 2 |
X-12937412-G-C | c.253G>C | p.G85R | Missense | 2/2 | - | 1 |
X-12937412-GGG-AGC | c.253_255delinsAGC | p.G85S | Missense | 2/2 | - | 1 |
X-12937412-G-T | c.253G>T | p.G85W | Missense | 2/2 | - | 1 |
X-12937416-T-C | c.257T>C | p.L86P | Missense | 2/2 | - | 1 |
X-12937416-T-G | c.257T>G | p.L86R | Missense | 2/2 | - | 1 |
X-12937418-C-T | c.259C>T | p.Q87* | Nonsense | 2/2 | - | 2 |
X-12937420-A-C | c.261A>C | p.Q87H | Missense | 2/2 | - | 1 |
X-12937424-CTC-TAA | c.265_267delinsTAA | p.L89* | Nonsense | 2/2 | - | 3 |
X-12937425-T-G | c.266T>G | p.L89R | Missense | 2/2 | - | 1 |
X-12937426-C-A | c.267C>A | p.L89= | Synonymous | 2/2 | - | 1 |
X-12937426-C-G | c.267C>G | p.L89= | Synonymous | 2/2 | - | 1 |
X-12937426-C-T | c.267C>T | p.L89= | Synonymous | 2/2 | - | 1 |
X-12937427-A-T | c.268A>T | p.T90S | Missense | 2/2 | - | 1 |
X-12937428-C-G | c.269C>G | p.T90S | Missense | 2/2 | - | 2 |
X-12937434-T-C | c.275T>C | p.I92T | Missense | 2/2 | - | 1 |
X-12937443-A-G | c.284A>G | p.N95S | Missense | 2/2 | - | 1 |
X-12937443-A-T | c.284A>T | p.N95I | Missense | 2/2 | - | 1 |
X-12937450-C-T | c.291C>T | p.N97= | Synonymous | 2/2 | - | 2 |
X-12937459-A-C | c.300A>C | p.V100= | Synonymous | 2/2 | - | 2 |
X-12937459-A-G | c.300A>G | p.V100= | Synonymous | 2/2 | - | 2 |
X-12937459-A-T | c.300A>T | p.V100= | Synonymous | 2/2 | - | 2 |
X-12937462-G-A | c.303G>A | p.Q101= | Synonymous | 2/2 | - | 1 |
X-12937465-C-T | c.306C>T | p.H102= | Synonymous | 2/2 | - | 1 |
X-12937470-A-G | c.311A>G | p.N104S | Missense | 2/2 | - | 1 |
X-12937471-C-G | c.312C>G | p.N104K | Missense | 2/2 | - | 1 |
X-12937471-C-T | c.312C>T | p.N104= | Synonymous | 2/2 | - | 1 |
X-12937472-G-A | c.313G>A | p.G105R | Missense | 2/2 | - | 6 |
X-12937472-G-C | c.313G>C | p.G105R | Missense | 2/2 | - | 4 |
X-12937473-G-A | c.314G>A | p.G105E | Missense | 2/2 | - | 4 |
X-12937478-C-T | c.319C>T | p.P107S | Missense | 2/2 | - | 2 |
X-12937480-C-A | c.321C>A | p.P107= | Synonymous | 2/2 | - | 3 |
X-12937480-C-G | c.321C>G | p.P107= | Synonymous | 2/2 | - | 1 |
X-12937480-C-T | c.321C>T | p.P107= | Synonymous | 2/2 | - | 2 |
X-12937481-G-A | c.322G>A | p.G108S | Missense | 2/2 | - | 1 |
X-12937486-A-G | c.327A>G | p.I109M | Missense | 2/2 | - | 1 |
X-12937489-A-G | c.330A>G | p.Q110= | Synonymous | 2/2 | - | 1 |
X-12937491-C-T | c.332C>T | p.S111L | Missense | 2/2 | - | 1 |
X-12937496-G-A | c.337G>A | p.G113S | Missense | 2/2 | - | 1 |
X-12937497-G-A | c.338G>A | p.G113D | Missense | 2/2 | - | 1 |
X-12937497-G-T | c.338G>T | p.G113V | Missense | 2/2 | - | 1 |
X-12937498-C-A | c.339C>A | p.G113= | Synonymous | 2/2 | - | 2 |
X-12937498-C-G | c.339C>G | p.G113= | Synonymous | 2/2 | - | 2 |
X-12937498-C-T | c.339C>T | p.G113= | Synonymous | 2/2 | - | 2 |
X-12937511-G-A | c.352G>A | p.D118N | Missense | 2/2 | - | 1 |
X-12937513-C-T | c.354C>T | p.D118= | Synonymous | 2/2 | - | 20 |
X-12937514-G-A | c.355G>A | p.G119R | Missense | 2/2 | - | 1 |
X-12937514-G-C | c.355G>C | p.G119R | Missense | 2/2 | - | 1 |
X-12937515-G-A | c.356G>A | p.G119E | Missense | 2/2 | - | 1 |
X-12937523-C-A | c.364C>A | p.L122I | Missense | 2/2 | - | 1 |
X-12937533-AAAAACCTAAG-A | c.374_383del | p.K125Rfs*21 | Frameshift | 2/2 | - | 1 |
X-12937538-C-T | c.379C>T | p.L127= | Synonymous | 2/2 | - | 1 |
X-12937540-A-C | c.381A>C | p.L127= | Synonymous | 2/2 | - | 1 |
X-12937540-A-G | c.381A>G | p.L127= | Synonymous | 2/2 | - | 2 |
X-12937540-A-T | c.381A>T | p.L127= | Synonymous | 2/2 | - | 1 |
X-12937542-G-A | c.383G>A | p.R128K | Missense | 2/2 | - | 1 |
X-12937543-G-A | c.384G>A | p.R128= | Synonymous | 2/2 | - | 1 |
X-12937545-A-G | c.386A>G | p.E129G | Missense | 2/2 | - | 1 |
X-12937546-G-A | c.387G>A | p.E129= | Synonymous | 2/2 | - | 2 |
X-12937548-T-C | c.389T>C | p.L130S | Missense | 2/2 | - | 1 |
X-12937551-T-C | c.392T>C | p.L131P | Missense | 2/2 | - | 2 |
X-12937551-T-G | c.392T>G | p.L131R | Missense | 2/2 | - | 1 |
X-12937553-C-A | c.394C>A | p.L132I | Missense | 2/2 | - | 1 |
X-12937553-C-T | c.394C>T | p.L132F | Missense | 2/2 | - | 2 |
X-12937559-G-C | c.400G>C | p.D134H | Missense | 2/2 | - | 1 |
X-12937562-A-C | c.403A>C | p.N135H | Missense | 2/2 | - | 1 |
X-12937571-C-T | c.412C>T | p.P138S | Missense | 2/2 | - | 5 |
X-12937579-A-C | c.420A>C | p.I140= | Synonymous | 2/2 | - | 1 |
X-12937579-A-T | c.420A>T | p.I140= | Synonymous | 2/2 | - | 1 |
X-12937580-C-A | c.421C>A | p.P141T | Missense | 2/2 | - | 1 |
X-12937581-C-T | c.422C>T | p.P141L | Missense | 2/2 | - | 1 |
X-12937583-T-G | c.424T>G | p.S142A | Missense | 2/2 | - | 3 |
X-12937592-C-A | c.433C>A | p.P145T | Missense | 2/2 | - | 1 |
X-12937616-C-A | c.457C>A | p.L153I | Missense | 2/2 | - | 1 |
X-12937616-C-T | c.457C>T | p.L153= | Synonymous | 2/2 | - | 1 |
X-12937618-A-C | c.459A>C | p.L153= | Synonymous | 2/2 | - | 1 |
X-12937618-A-G | c.459A>G | p.L153= | Synonymous | 2/2 | - | 1 |
X-12937618-A-T | c.459A>T | p.L153= | Synonymous | 2/2 | - | 1 |
X-12937622-C-T | c.463C>T | p.Q155* | Nonsense | 2/2 | - | 3 |
X-12937632-TA-AC | c.473_474delinsAC | p.I158N | Missense | 2/2 | - | 1 |
X-12937633-A-G | c.474A>G | p.I158M | Missense | 2/2 | - | 1 |
X-12937648-A-G | c.489A>G | p.K163= | Synonymous | 2/2 | - | 1 |
X-12937649-G-T | c.490G>T | p.E164* | Nonsense | 2/2 | - | 1 |
X-12937651-G-C | c.492G>C | p.E164D | Missense | 2/2 | - | 1 |
X-12937654-C-A | c.495C>A | p.G165= | Synonymous | 2/2 | - | 1 |
X-12937654-C-G | c.495C>G | p.G165= | Synonymous | 2/2 | - | 1 |
X-12937654-C-T | c.495C>T | p.G165= | Synonymous | 2/2 | - | 1 |
X-12937662-G-C | c.503G>C | p.R168T | Missense | 2/2 | - | 1 |
X-12937667-A-G | c.508A>G | p.I170V | Missense | 2/2 | - | 2 |
X-12937672-C-A | c.513C>A | p.N171K | Missense | 2/2 | - | 3 |
X-12937672-C-G | c.513C>G | p.N171K | Missense | 2/2 | - | 3 |
X-12937672-C-T | c.513C>T | p.N171= | Synonymous | 2/2 | - | 1 |
X-12937675-G-C | c.516G>C | p.L172F | Missense | 2/2 | - | 1 |
X-12937675-G-T | c.516G>T | p.L172F | Missense | 2/2 | - | 1 |
X-12937677-A-G | c.518A>G | p.K173R | Missense | 2/2 | - | 1 |
X-12937682-C-T | c.523C>T | p.L175F | Missense | 2/2 | - | 4 |
X-12937685-T-C | c.526T>C | p.Y176H | Missense | 2/2 | - | 1 |
X-12937696-G-T | c.537G>T | p.W179C | Missense | 2/2 | - | 1 |
X-12937703-T-C | c.544T>C | p.Y182H | Missense | 2/2 | - | 1 |
X-12937705-T-C | c.546T>C | p.Y182= | Synonymous | 2/2 | - | 1 |
X-12937709-A-T | c.550A>T | p.N184Y | Missense | 2/2 | - | 1 |
X-12937711-C-T | c.552C>T | p.N184= | Synonymous | 2/2 | - | 1 |
X-12937712-A-G | c.553A>G | p.K185E | Missense | 2/2 | - | 1 |
X-12937714-A-C | c.555A>C | p.K185N | Missense | 2/2 | - | 1 |
X-12937714-A-T | c.555A>T | p.K185N | Missense | 2/2 | - | 1 |
X-12937719-G-A | c.560G>A | p.C187Y | Missense | 2/2 | - | 1 |
X-12937720-C-T | c.561C>T | p.C187= | Synonymous | 2/2 | - | 1 |
X-12937721-G-A | c.562G>A | p.E188K | Missense | 2/2 | - | 3 |
X-12937724-A-C | c.565A>C | p.K189Q | Missense | 2/2 | - | 1 |
X-12937728-C-A | c.569C>A | p.T190N | Missense | 2/2 | - | 2 |
X-12937736-G-C | c.577G>C | p.E193Q | Missense | 2/2 | - | 1 |
X-12937741-T-A | c.582T>A | p.D194E | Missense | 2/2 | - | 1 |
X-12937741-T-G | c.582T>G | p.D194E | Missense | 2/2 | - | 1 |
X-12937742-G-A | c.583G>A | p.G195R | Missense | 2/2 | - | 2 |
X-12937742-G-C | c.583G>C | p.G195R | Missense | 2/2 | - | 1 |
X-12937748-T-C | c.589T>C | p.F197L | Missense | 2/2 | - | 1 |
X-12937750-T-A | c.591T>A | p.F197L | Missense | 2/2 | - | 1 |
X-12937750-T-G | c.591T>G | p.F197L | Missense | 2/2 | - | 1 |
X-12937751-G-A | c.592G>A | p.E198K | Missense | 2/2 | - | 1 |
X-12937754-A-T | c.595A>T | p.T199S | Missense | 2/2 | - | 1 |
X-12937755-C-T | c.596C>T | p.T199M | Missense | 2/2 | - | 3 |
X-12937756-G-A | c.597G>A | p.T199= | Synonymous | 2/2 | - | 1 |
X-12937763-A-C | c.604A>C | p.N202H | Missense | 2/2 | - | 1 |
X-12937763-A-G | c.604A>G | p.N202D | Missense | 2/2 | - | 1 |
X-12937764-A-G | c.605A>G | p.N202S | Missense | 2/2 | - | 2 |
X-12937769-G-A | c.610G>A | p.E204K | Missense | 2/2 | - | 1 |
X-12937779-C-T | c.620C>T | p.S207L | Missense | 2/2 | - | 2 |
X-12937784-TC-AA | c.625_626delinsAA | p.S209N | Missense | 2/2 | - | 1 |
X-12937791-A-T | c.632A>T | p.N211I | Missense | 2/2 | - | 1 |
X-12937793-T-C | c.634T>C | p.S212P | Missense | 2/2 | - | 1 |
X-12937794-C-A | c.635C>A | p.S212Y | Missense | 2/2 | - | 2 |
X-12937800-C-T | c.641C>T | p.S214L | Missense | 2/2 | - | 2 |
X-12937804-C-G | c.645C>G | p.H215Q | Missense | 2/2 | - | 13 |
X-12937804-C-T | c.645C>T | p.H215= | Synonymous | 2/2 | - | 28 |
X-12937805-G-A | c.646G>A | p.V216M | Missense | 2/2 | - | 2 |
X-12937807-G-A | c.648G>A | p.V216= | Synonymous | 2/2 | - | 2 |
X-12937807-G-C | c.648G>C | p.V216= | Synonymous | 2/2 | - | 2 |
X-12937807-G-T | c.648G>T | p.V216= | Synonymous | 2/2 | - | 2 |
X-12937808-C-G | c.649C>G | p.P217A | Missense | 2/2 | - | 1 |
X-12937808-C-T | c.649C>T | p.P217S | Missense | 2/2 | - | 4 |
X-12937815-A-G | c.656A>G | p.K219R | Missense | 2/2 | - | 1 |
X-12937829-C-A | c.670C>A | p.L224I | Missense | 2/2 | - | 3 |
X-12937832-C-T | c.673C>T | p.R225C | Missense | 2/2 | - | 1 |
X-12937838-C-CT | c.684dup | p.L229Sfs*10 | Frameshift | 2/2 | - | 1 |
X-12937842-TTC-T | c.685_686del | p.L229Efs*9 | Frameshift | 2/2 | - | 1 |
X-12937847-AG-CC | c.688_689delinsCC | p.S230P | Missense | 2/2 | - | 1 |
X-12937847-AG-TA | c.688_689delinsTA | p.S230Y | Missense | 2/2 | - | 1 |
X-12937851-A-G | c.692A>G | p.N231S | Missense | 2/2 | - | 2 |
X-12937852-C-A | c.693C>A | p.N231K | Missense | 2/2 | - | 1 |
X-12937852-C-G | c.693C>G | p.N231K | Missense | 2/2 | - | 2 |
X-12937861-C-T | c.702C>T | p.I234= | Synonymous | 2/2 | - | 1 |
X-12937864-A-G | c.705A>G | p.K235= | Synonymous | 2/2 | - | 1 |
X-12937870-T-C | c.711T>C | p.I237= | Synonymous | 2/2 | - | 1 |
X-12937877-G-A | c.718G>A | p.E240K | Missense | 2/2 | - | 1 |
X-12937880-G-A | c.721G>A | p.D241N | Missense | 2/2 | - | 1 |
X-12937885-C-A | c.726C>A | p.F242L | Missense | 2/2 | - | 4 |
X-12937888-G-A | c.729G>A | p.K243= | Synonymous | 2/2 | - | 1 |
X-12937892-TT-GC | c.733_734delinsGC | p.L245A | Missense | 2/2 | - | 1 |
X-12937899-AT-A | c.743del | p.L248* | Frameshift | 2/2 | - | 1 |
X-12937902-T-A | c.743T>A | p.L248* | Nonsense | 2/2 | - | 2 |
X-12937902-T-G | c.743T>G | p.L248* | Nonsense | 2/2 | - | 2 |
X-12937909-A-G | c.750A>G | p.L250= | Synonymous | 2/2 | - | 1 |
X-12937910-C-A | c.751C>A | p.L251I | Missense | 2/2 | - | 1 |
X-12937913-G-A | c.754G>A | p.D252N | Missense | 2/2 | - | 2 |
X-12937921-C-T | c.762C>T | p.S254= | Synonymous | 2/2 | - | 1 |
X-12937927-C-G | c.768C>G | p.N256K | Missense | 2/2 | - | 1 |
X-12937927-C-T | c.768C>T | p.N256= | Synonymous | 2/2 | - | 1 |
X-12937928-TG-GC | c.769_770delinsGC | p.C257A | Missense | 2/2 | - | 1 |
X-12937932-C-T | c.773C>T | p.P258L | Missense | 2/2 | - | 1 |
X-12937933-G-A | c.774G>A | p.P258= | Synonymous | 2/2 | - | 1 |
X-12937933-G-C | c.774G>C | p.P258= | Synonymous | 2/2 | - | 1 |
X-12937933-G-T | c.774G>T | p.P258= | Synonymous | 2/2 | - | 1 |
X-12937937-TG-GC | c.778_779delinsGC | p.C260A | Missense | 2/2 | - | 1 |
X-12937950-C-T | c.791C>T | p.P264L | Missense | 2/2 | - | 1 |
X-12937952-T-C | c.793T>C | p.F265L | Missense | 2/2 | - | 1 |
X-12937955-C-G | c.796C>G | p.P266A | Missense | 2/2 | - | 1 |
X-12937955-C-T | c.796C>T | p.P266S | Missense | 2/2 | - | 1 |
X-12937958-TG-GC | c.799_800delinsGC | p.C267A | Missense | 2/2 | - | 1 |
X-12937960-C-A | c.801C>A | p.C267* | Nonsense | 2/2 | - | 1 |
X-12937960-C-T | c.801C>T | p.C267= | Synonymous | 2/2 | - | 3 |
X-12937961-G-A | c.802G>A | p.V268M | Missense | 2/2 | - | 4 |
X-12937967-TG-GC | c.808_809delinsGC | p.C270A | Missense | 2/2 | - | 1 |
X-12937970-G-A | c.811G>A | p.D271N | Missense | 2/2 | - | 1 |
X-12937973-G-A | c.814G>A | p.G272S | Missense | 2/2 | - | 1 |
X-12937974-G-T | c.815G>T | p.G272V | Missense | 2/2 | - | 1 |
X-12937976-G-A | c.817G>A | p.G273S | Missense | 2/2 | - | 1 |
X-12937976-G-C | c.817G>C | p.G273R | Missense | 2/2 | - | 1 |
X-12937977-G-T | c.818G>T | p.G273V | Missense | 2/2 | - | 1 |
X-12937987-T-G | c.828T>G | p.I276M | Missense | 2/2 | - | 1 |
X-12937993-A-C | c.834A>C | p.I278= | Synonymous | 2/2 | - | 1 |
X-12937993-A-T | c.834A>T | p.I278= | Synonymous | 2/2 | - | 1 |
X-12937997-C-A | c.838C>A | p.R280S | Missense | 2/2 | - | 1 |
X-12937997-C-T | c.838C>T | p.R280C | Missense | 2/2 | - | 3 |
X-12938000-T-TC | c.841_842insC | p.F281Sfs*16 | Frameshift | 2/2 | - | 1 |
X-12938009-C-G | c.850C>G | p.Q284E | Missense | 2/2 | - | 3 |
X-12938010-A-T | c.851A>T | p.Q284L | Missense | 2/2 | - | 1 |
X-12938018-A-G | c.859A>G | p.T287A | Missense | 2/2 | - | 1 |
X-12938019-CC-TG | c.860_861delinsTG | p.T287M | Missense | 2/2 | - | 1 |
X-12938021-C-A | c.862C>A | p.Q288K | Missense | 2/2 | - | 1 |
X-12938024-C-G | c.865C>G | p.L289V | Missense | 2/2 | - | 1 |
X-12938027-CG-AA | c.868_869delinsAA | p.R290K | Missense | 2/2 | - | 1 |
X-12938027-C-T | c.868C>T | p.R290* | Nonsense | 2/2 | - | 5 |
X-12938030-T-C | c.871T>C | p.Y291H | Missense | 2/2 | - | 1 |
X-12938031-A-G | c.872A>G | p.Y291C | Missense | 2/2 | - | 1 |
X-12938032-C-T | c.873C>T | p.Y291= | Synonymous | 2/2 | - | 1 |
X-12938041-C-T | c.882C>T | p.L294= | Synonymous | 2/2 | - | 3 |
X-12938043-C-T | c.884C>T | p.S295F | Missense | 2/2 | - | 1 |
X-12938058-G-T | c.899G>T | p.R300M | Missense | 2/2 | - | 1 |
X-12938057-A-C | c.898A>C | p.R300= | Synonymous | 2/2 | - | 1 |
X-12938059-G-A | c.900G>A | p.R300= | Synonymous | 2/2 | - | 1 |
X-12938064-T-A | c.905T>A | p.I302N | Missense | 2/2 | - | 4 |
X-12938067-A-C | c.908A>C | p.N303T | Missense | 2/2 | - | 1 |
X-12938069-G-C | c.910G>C | p.A304P | Missense | 2/2 | - | 1 |
X-12938078-T-C | c.919T>C | p.F307L | Missense | 2/2 | - | 1 |
X-12938080-T-A | c.921T>A | p.F307L | Missense | 2/2 | - | 1 |
X-12938080-T-G | c.921T>G | p.F307L | Missense | 2/2 | - | 1 |
X-12938088-T-C | c.929T>C | p.M310T | Missense | 2/2 | - | 1 |
X-12938090-C-T | c.931C>T | p.P311S | Missense | 2/2 | - | 1 |
X-12938102-G-A | c.943G>A | p.V315M | Missense | 2/2 | - | 1 |
X-12938104-G-A | c.945G>A | p.V315= | Synonymous | 2/2 | - | 1 |
X-12938104-G-C | c.945G>C | p.V315= | Synonymous | 2/2 | - | 1 |
X-12938104-G-T | c.945G>T | p.V315= | Synonymous | 2/2 | - | 1 |
X-12938111-C-A | c.952C>A | p.L318I | Missense | 2/2 | - | 2 |
X-12938111-C-T | c.952C>T | p.L318F | Missense | 2/2 | - | 1 |
X-12938111-CTT-TAA | c.952_954delinsTAA | p.L318* | Nonsense | 2/2 | - | 1 |
X-12938123-T-G | c.964T>G | p.Y322D | Missense | 2/2 | - | 1 |
X-12938126-T-A | c.967T>A | p.L323I | Missense | 2/2 | - | 3 |
X-12938129-G-A | c.970G>A | p.V324M | Missense | 2/2 | - | 1 |
X-12938131-G-T | c.972G>T | p.V324= | Synonymous | 2/2 | - | 1 |
X-12938132-G-T | c.973G>T | p.G325* | Nonsense | 2/2 | - | 1 |
X-12938141-G-A | c.982G>A | p.A328T | Missense | 2/2 | - | 1 |
X-12938142-C-T | c.983C>T | p.A328V | Missense | 2/2 | - | 3 |
X-12938148-G-T | c.989G>T | p.G330V | Missense | 2/2 | - | 1 |
X-12938151-C-A | c.992C>A | p.A331E | Missense | 2/2 | - | 1 |
X-12938153-T-G | c.994T>G | p.F332V | Missense | 2/2 | - | 1 |
X-12938156-T-C | c.997T>C | p.L333= | Synonymous | 2/2 | - | 1 |
X-12938160-C-T | c.1001C>T | p.T334M | Missense | 2/2 | - | 2 |
X-12938165-C-A | c.1006C>A | p.L336M | Missense | 2/2 | - | 1 |
X-12938165-C-G | c.1006C>G | p.L336V | Missense | 2/2 | - | 1 |
X-12938167-GC-G | c.1012del | p.R338Afs*2 | Frameshift | 2/2 | - | 1 |
X-12938172-G-A | c.1013G>A | p.R338H | Missense | 2/2 | - | 5 |
X-12938183-C-A | c.1024C>A | p.L342I | Missense | 2/2 | - | 1 |
X-12938195-T-C | c.1036T>C | p.F346L | Missense | 2/2 | - | 1 |
X-12938197-T-A | c.1038T>A | p.F346L | Missense | 2/2 | - | 1 |
X-12938197-T-G | c.1038T>G | p.F346L | Missense | 2/2 | - | 1 |
X-12938197-T-C | c.1038T>C | p.F346= | Synonymous | 2/2 | - | 1 |
X-12938198-A-T | c.1039A>T | p.N347Y | Missense | 2/2 | - | 1 |
X-12938201-TA-GC | c.1042_1043delinsGC | p.Y348A | Missense | 2/2 | - | 2 |
X-12938202-A-G | c.1043A>G | p.Y348C | Missense | 2/2 | - | 1 |
X-12938203-T-C | c.1044T>C | p.Y348= | Synonymous | 2/2 | - | 1 |
X-12938204-AT-TA | c.1045_1046delinsTA | p.I349* | Nonsense | 2/2 | - | 1 |
X-12938209-G-A | c.1050G>A | p.K350= | Synonymous | 2/2 | - | 2 |
X-12938210-GG-TA | c.1051_1052delinsTA | p.G351* | Nonsense | 2/2 | - | 1 |
X-12938211-G-C | c.1052G>C | p.G351A | Missense | 2/2 | - | 1 |
X-12938212-G-A | c.1053G>A | p.G351= | Synonymous | 2/2 | - | 4 |
X-12938216-TA-GC | c.1057_1058delinsGC | p.Y353A | Missense | 2/2 | - | 1 |
X-12938219-C-T | c.1060C>T | p.P354S | Missense | 2/2 | - | 2 |
X-12938220-C-A | c.1061C>A | p.P354Q | Missense | 2/2 | - | 1 |
X-12938222-C-T | c.1063C>T | p.Q355* | Nonsense | 2/2 | - | 1 |
X-12938231-A-T | c.1072A>T | p.N358Y | Missense | 2/2 | - | 1 |
X-12938238-C-T | c.1079C>T | p.S360F | Missense | 2/2 | - | 2 |
X-12938239-C-CAA | c.1081_1082insAA | p.R361Kfs*15 | Frameshift | 2/2 | - | 1 |
X-12938240-AGA-TGT | c.1081_1083delinsTGT | p.R361C | Missense | 2/2 | - | 1 |
X-12938246-T-C | c.1087T>C | p.F363L | Missense | 2/2 | - | 1 |
X-12938248-C-A | c.1089C>A | p.F363L | Missense | 2/2 | - | 1 |
X-12938248-C-G | c.1089C>G | p.F363L | Missense | 2/2 | - | 2 |
X-12938251-T-G | c.1092T>G | p.S364= | Synonymous | 2/2 | - | 1 |
X-12938252-A-T | c.1093A>T | p.K365* | Nonsense | 2/2 | - | 1 |
X-12938261-TC-CT | c.1102_1103delinsCT | p.S368L | Missense | 2/2 | - | 1 |
X-12938262-C-T | c.1103C>T | p.S368F | Missense | 2/2 | - | 2 |
X-12938267-C-T | c.1108C>T | p.R370W | Missense | 2/2 | - | 4 |
X-12938268-G-A | c.1109G>A | p.R370Q | Missense | 2/2 | - | 1 |
X-12938268-G-T | c.1109G>T | p.R370L | Missense | 2/2 | - | 2 |
X-12938270-G-T | c.1111G>T | p.A371S | Missense | 2/2 | - | 1 |
X-12938271-C-T | c.1112C>T | p.A371V | Missense | 2/2 | - | 1 |
X-12938276-CA-GC | c.1117_1118delinsGC | p.H373A | Missense | 2/2 | - | 1 |
X-12938276-C-T | c.1117C>T | p.H373Y | Missense | 2/2 | - | 1 |
X-12938282-AG-GC | c.1123_1124delinsGC | p.R375A | Missense | 2/2 | - | 1 |
X-12938283-G-T | c.1124G>T | p.R375I | Missense | 2/2 | - | 2 |
X-12938285-GGT-TGA | c.1126_1128delinsTGA | p.G376* | Nonsense | 2/2 | - | 1 |
X-12938286-G-C | c.1127G>C | p.G376A | Missense | 2/2 | - | 1 |
X-12938288-T-C | c.1129T>C | p.Y377H | Missense | 2/2 | - | 2 |
X-12938291-GT-TA | c.1132_1133delinsTA | p.V378* | Nonsense | 2/2 | - | 1 |
X-12938300-G-A | c.1141G>A | p.E381K | Missense | 2/2 | - | 2 |
X-12938303-C-T | c.1144C>T | p.L382F | Missense | 2/2 | - | 1 |
X-12938305-C-T | c.1146C>T | p.L382= | Synonymous | 2/2 | - | 1 |
X-12938321-C-T | c.1162C>T | p.Q388* | Nonsense | 2/2 | - | 1 |
X-12938324-C-G | c.1165C>G | p.P389A | Missense | 2/2 | - | 1 |
X-12938327-CT-TC | c.1168_1169delinsTC | p.L390S | Missense | 2/2 | - | 1 |
X-12938331-T-C | c.1172T>C | p.M391T | Missense | 2/2 | - | 2 |
X-12938334-A-C | c.1175A>C | p.Q392P | Missense | 2/2 | - | 1 |
X-12938348-T-C | c.1189T>C | p.S397P | Missense | 2/2 | - | 1 |
X-12938349-C-T | c.1190C>T | p.S397L | Missense | 2/2 | - | 4 |
X-12938352-C-T | c.1193C>T | p.T398I | Missense | 2/2 | - | 1 |
X-12938357-A-G | c.1198A>G | p.N400D | Missense | 2/2 | - | 1 |
X-12938366-ATT-TAA | c.1207_1209delinsTAA | p.I403* | Nonsense | 2/2 | - | 1 |
X-12938369-A-G | c.1210A>G | p.N404D | Missense | 2/2 | - | 1 |
X-12938370-A-T | c.1211A>T | p.N404I | Missense | 2/2 | - | 1 |
X-12938372-TT-GC | c.1213_1214delinsGC | p.F405A | Missense | 2/2 | - | 3 |
X-12938373-TT-AA | c.1214_1215inv | p.F405* | Nonsense | 2/2 | - | 1 |
X-12938374-T-C | c.1215T>C | p.F405= | Synonymous | 2/2 | - | 1 |
X-12938386-C-T | c.1227C>T | p.I409= | Synonymous | 2/2 | - | 2 |
X-12938387-G-A | c.1228G>A | p.D410N | Missense | 2/2 | - | 2 |
X-12938389-T-A | c.1230T>A | p.D410E | Missense | 2/2 | - | 2 |
X-12938391-T-C | c.1232T>C | p.F411S | Missense | 2/2 | - | 1 |
X-12938405-A-G | c.1246A>G | p.N416D | Missense | 2/2 | - | 1 |
X-12938408-T-C | c.1249T>C | p.F417L | Missense | 2/2 | - | 1 |
X-12938410-C-A | c.1251C>A | p.F417L | Missense | 2/2 | - | 1 |
X-12938410-C-G | c.1251C>G | p.F417L | Missense | 2/2 | - | 2 |
X-12938410-C-T | c.1251C>T | p.F417= | Synonymous | 2/2 | - | 1 |
X-12938411-TC-GG | c.1252_1253delinsGG | p.S418G | Missense | 2/2 | - | 1 |
X-12938413-C-A | c.1254C>A | p.S418= | Synonymous | 2/2 | - | 3 |
X-12938413-C-G | c.1254C>G | p.S418= | Synonymous | 2/2 | - | 1 |
X-12938413-C-T | c.1254C>T | p.S418= | Synonymous | 2/2 | - | 2 |
X-12938417-C-T | c.1258C>T | p.L420= | Synonymous | 2/2 | - | 1 |
X-12938419-G-A | c.1260G>A | p.L420= | Synonymous | 2/2 | - | 1 |
X-12938419-G-C | c.1260G>C | p.L420= | Synonymous | 2/2 | - | 1 |
X-12938419-G-T | c.1260G>T | p.L420= | Synonymous | 2/2 | - | 1 |
X-12938420-G-A | c.1261G>A | p.E421K | Missense | 2/2 | - | 3 |
X-12938420-G-C | c.1261G>C | p.E421Q | Missense | 2/2 | - | 1 |
X-12938423-A-C | c.1264A>C | p.I422L | Missense | 2/2 | - | 1 |
X-12938432-T-G | c.1273T>G | p.L425V | Missense | 2/2 | - | 1 |
X-12938453-C-T | c.1294C>T | p.P432S | Missense | 2/2 | - | 2 |
X-12938454-C-T | c.1295C>T | p.P432L | Missense | 2/2 | - | 7 |
X-12938455-G-A | c.1296G>A | p.P432= | Synonymous | 2/2 | - | 1 |
X-12938455-G-C | c.1296G>C | p.P432= | Synonymous | 2/2 | - | 1 |
X-12938455-G-T | c.1296G>T | p.P432= | Synonymous | 2/2 | - | 1 |
X-12938460-T-C | c.1301T>C | p.V434A | Missense | 2/2 | - | 1 |
X-12938463-A-C | c.1304A>C | p.K435T | Missense | 2/2 | - | 1 |
X-12938464-A-G | c.1305A>G | p.K435= | Synonymous | 2/2 | - | 1 |
X-12938465-G-C | c.1306G>C | p.D436H | Missense | 2/2 | - | 1 |
X-12938465-G-T | c.1306G>T | p.D436Y | Missense | 2/2 | - | 2 |
X-12938469-C-G | c.1310C>G | p.T437S | Missense | 2/2 | - | 1 |
X-12938469-C-T | c.1310C>T | p.T437I | Missense | 2/2 | - | 1 |
X-12938471-C-A | c.1312C>A | p.R438= | Synonymous | 2/2 | - | 2 |
X-12938471-C-T | c.1312C>T | p.R438W | Missense | 2/2 | - | 1 |
X-12938482-T-G | c.1323T>G | p.Y441* | Nonsense | 2/2 | - | 1 |
X-12938487-ATAG-A | c.1330_1332del | p.S446del | InFrameDeletion | 2/2 | - | 1 |
X-12938493-C-T | c.1334C>T | p.S445F | Missense | 2/2 | - | 2 |
X-12938498-T-G | c.1339T>G | p.F447V | Missense | 2/2 | - | 1 |
X-12938501-C-T | c.1342C>T | p.Q448* | Nonsense | 2/2 | - | 1 |
X-12938504-C-A | c.1345C>A | p.R449S | Missense | 2/2 | - | 1 |
X-12938504-C-T | c.1345C>T | p.R449C | Missense | 2/2 | - | 1 |
X-12938507-C-G | c.1348C>G | p.H450D | Missense | 2/2 | - | 1 |
X-12938513-CGG-TGT | c.1354_1356delinsTGT | p.R452C | Missense | 2/2 | - | 1 |
X-12938513-C-T | c.1354C>T | p.R452W | Missense | 2/2 | - | 2 |
X-12938514-G-A | c.1355G>A | p.R452Q | Missense | 2/2 | - | 1 |
X-12938519-C-T | c.1360C>T | p.R454* | Nonsense | 2/2 | - | 3 |
X-12938520-G-A | c.1361G>A | p.R454Q | Missense | 2/2 | - | 1 |
X-12938526-C-A | c.1367C>A | p.S456* | Nonsense | 2/2 | - | 1 |
X-12938526-C-G | c.1367C>G | p.S456* | Nonsense | 2/2 | - | 1 |
X-12938531-G-A | c.1372G>A | p.D458N | Missense | 2/2 | - | 2 |
X-12938543-GAC-TAA | c.1384_1386delinsTAA | p.D462* | Nonsense | 2/2 | - | 1 |
X-12938545-C-T | c.1386C>T | p.D462= | Synonymous | 2/2 | - | 1 |
X-12938553-C-T | c.1394C>T | p.S465L | Missense | 2/2 | - | 1 |
X-12938554-G-A | c.1395G>A | p.S465= | Synonymous | 2/2 | - | 5 |
X-12938556-A-C | c.1397A>C | p.N466T | Missense | 2/2 | - | 1 |
X-12938558-T-C | c.1399T>C | p.F467L | Missense | 2/2 | - | 1 |
X-12938559-T-C | c.1400T>C | p.F467S | Missense | 2/2 | - | 1 |
X-12938564-C-A | c.1405C>A | p.H469N | Missense | 2/2 | - | 1 |
X-12938564-C-G | c.1405C>G | p.H469D | Missense | 2/2 | - | 2 |
X-12938573-CGT-TGA | c.1414_1416delinsTGA | p.R472* | Nonsense | 2/2 | - | 3 |
X-12938573-C-T | c.1414C>T | p.R472C | Missense | 2/2 | - | 4 |
X-12938574-G-A | c.1415G>A | p.R472H | Missense | 2/2 | - | 3 |
X-12938574-GT-AA | c.1415_1416delinsAA | p.R472Q | Missense | 2/2 | - | 1 |
X-12938579-TT-GC | c.1420_1421delinsGC | p.L474A | Missense | 2/2 | - | 1 |
X-12938597-G-C | c.1438G>C | p.A480P | Missense | 2/2 | - | 1 |
X-12938601-C-A | c.1442C>A | p.A481D | Missense | 2/2 | - | 1 |
X-12938606-G-A | c.1447G>A | p.G483R | Missense | 2/2 | - | 5 |
X-12938606-G-C | c.1447G>C | p.G483R | Missense | 2/2 | - | 2 |
X-12938607-G-A | c.1448G>A | p.G483E | Missense | 2/2 | - | 3 |
X-12938612-G-A | c.1453G>A | p.A485T | Missense | 2/2 | - | 2 |
X-12938614-C-T | c.1455C>T | p.A485= | Synonymous | 2/2 | - | 1 |
X-12938618-G-A | c.1459G>A | p.D487N | Missense | 2/2 | - | 1 |
X-12938630-A-G | c.1471A>G | p.N491D | Missense | 2/2 | - | 1 |
X-12938634-G-C | c.1475G>C | p.S492T | Missense | 2/2 | - | 1 |
X-12938639-T-C | c.1480T>C | p.F494L | Missense | 2/2 | - | 3 |
X-12938641-C-A | c.1482C>A | p.F494L | Missense | 2/2 | - | 4 |
X-12938641-C-G | c.1482C>G | p.F494L | Missense | 2/2 | - | 3 |
X-12938640-TC-AA | c.1481_1482delinsAA | p.F494* | Nonsense | 2/2 | - | 4 |
X-12938643-TC-AA | c.1484_1485delinsAA | p.F495* | Nonsense | 2/2 | - | 4 |
X-12938644-C-T | c.1485C>T | p.F495= | Synonymous | 2/2 | - | 3 |
X-12938649-G-A | c.1490G>A | p.G497E | Missense | 2/2 | - | 3 |
X-12938650-G-A | c.1491G>A | p.G497= | Synonymous | 2/2 | - | 1 |
X-12938650-G-C | c.1491G>C | p.G497= | Synonymous | 2/2 | - | 1 |
X-12938650-G-T | c.1491G>T | p.G497= | Synonymous | 2/2 | - | 1 |
X-12938651-C-T | c.1492C>T | p.P498S | Missense | 2/2 | - | 4 |
X-12938652-C-A | c.1493C>A | p.P498Q | Missense | 2/2 | - | 1 |
X-12938657-C-A | c.1498C>A | p.Q500K | Missense | 2/2 | - | 1 |
X-12938657-C-T | c.1498C>T | p.Q500* | Nonsense | 2/2 | - | 1 |
X-12938661-T-A | c.1502T>A | p.F501Y | Missense | 2/2 | - | 1 |
X-12938669-C-A | c.1510C>A | p.L504I | Missense | 2/2 | - | 1 |
X-12938670-T-A | c.1511T>A | p.L504H | Missense | 2/2 | - | 2 |
X-12938672-C-T | c.1513C>T | p.P505S | Missense | 2/2 | - | 2 |
X-12938678-A-G | c.1519A>G | p.I507V | Missense | 2/2 | - | 2 |
X-12938681-G-A | c.1522G>A | p.A508T | Missense | 2/2 | - | 1 |
X-12938682-C-T | c.1523C>T | p.A508V | Missense | 2/2 | - | 1 |
X-12938693-C-T | c.1534C>T | p.L512= | Synonymous | 2/2 | - | 4 |
X-12938695-G-A | c.1536G>A | p.L512= | Synonymous | 2/2 | - | 3 |
X-12938695-G-C | c.1536G>C | p.L512= | Synonymous | 2/2 | - | 3 |
X-12938695-G-T | c.1536G>T | p.L512= | Synonymous | 2/2 | - | 5 |
X-12938702-A-C | c.1543A>C | p.N515H | Missense | 2/2 | - | 1 |
X-12938705-AGC-TGA | c.1546_1548delinsTGA | p.S516* | Nonsense | 2/2 | - | 2 |
X-12938707-C-T | c.1548C>T | p.S516= | Synonymous | 2/2 | - | 1 |
X-12938711-GCT-TAA | c.1552_1554delinsTAA | p.A518* | Nonsense | 2/2 | - | 5 |
X-12938714-C-T | c.1555C>T | p.Q519* | Nonsense | 2/2 | - | 3 |
X-12938717-GT-TA | c.1558_1559delinsTA | p.V520* | Nonsense | 2/2 | - | 6 |
X-12938730-C-A | c.1571C>A | p.T524N | Missense | 2/2 | - | 1 |
X-12938732-G-A | c.1573G>A | p.E525K | Missense | 2/2 | - | 4 |
X-12938741-GC-CG | c.1582_1583delinsCG | p.A528R | Missense | 2/2 | - | 3 |
X-12938747-C-G | c.1588C>G | p.P530A | Missense | 2/2 | - | 1 |
X-12938747-C-T | c.1588C>T | p.P530S | Missense | 2/2 | - | 1 |
X-12938750-C-T | c.1591C>T | p.H531Y | Missense | 2/2 | - | 1 |
X-12938752-T-C | c.1593T>C | p.H531= | Synonymous | 2/2 | - | 2 |
X-12938756-A-T | c.1597A>T | p.K533* | Nonsense | 2/2 | - | 1 |
X-12938757-A-C | c.1598A>C | p.K533T | Missense | 2/2 | - | 1 |
X-12938758-A-G | c.1599A>G | p.K533= | Synonymous | 2/2 | - | 1 |
X-12938764-G-A | c.1605G>A | p.L535= | Synonymous | 2/2 | - | 2 |
X-12938776-C-T | c.1617C>T | p.N539= | Synonymous | 2/2 | - | 1 |
X-12938786-GAC-TAA | c.1627_1629delinsTAA | p.D543* | Nonsense | 2/2 | - | 5 |
X-12938787-A-C | c.1628A>C | p.D543A | Missense | 2/2 | - | 4 |
X-12938790-T-A | c.1631T>A | p.F544Y | Missense | 2/2 | - | 1 |
X-12938792-G-A | c.1633G>A | p.D545N | Missense | 2/2 | - | 2 |
X-12938792-GAT-TAA | c.1633_1635delinsTAA | p.D545* | Nonsense | 2/2 | - | 3 |
X-12938795-AAT-TAA | c.1636_1638delinsTAA | p.N546* | Nonsense | 2/2 | - | 1 |
X-12938798-GCT-TAA | c.1639_1641delinsTAA | p.A547* | Nonsense | 2/2 | - | 1 |
X-12938799-C-T | c.1640C>T | p.A547V | Missense | 2/2 | - | 2 |
X-12938802-G-A | c.1643G>A | p.S548N | Missense | 2/2 | - | 1 |
X-12938804-GC-CT | c.1645_1646delinsCT | p.A549L | Missense | 2/2 | - | 1 |
X-12938805-C-A | c.1646C>A | p.A549D | Missense | 2/2 | - | 1 |
X-12938806-T-C | c.1647T>C | p.A549= | Synonymous | 2/2 | - | 1 |
X-12938807-C-G | c.1648C>G | p.L550V | Missense | 2/2 | - | 1 |
X-12938818-G-A | c.1659G>A | p.L553= | Synonymous | 2/2 | - | 1 |
X-12938820-C-T | c.1661C>T | p.S554F | Missense | 2/2 | - | 1 |
X-12938823-A-C | c.1664A>C | p.D555A | Missense | 2/2 | - | 1 |
X-12938828-GA-TC | c.1669_1670inv | p.E557S | Missense | 2/2 | - | 1 |
X-12938831-G-T | c.1672G>T | p.V558F | Missense | 2/2 | - | 1 |
X-12938837-G-A | c.1678G>A | p.D560N | Missense | 2/2 | - | 1 |
X-12938838-A-T | c.1679A>T | p.D560V | Missense | 2/2 | - | 2 |
X-12938853-C-A | c.1694C>A | p.S565* | Nonsense | 2/2 | - | 1 |
X-12938853-C-G | c.1694C>G | p.S565* | Nonsense | 2/2 | - | 1 |
X-12938855-CAC-GAG | c.1696_1698delinsGAG | p.H566E | Missense | 2/2 | - | 1 |
X-12938858-TA-GC | c.1699_1700delinsGC | p.Y567A | Missense | 2/2 | - | 1 |
X-12938860-T-A | c.1701T>A | p.Y567* | Nonsense | 2/2 | - | 4 |
X-12938860-T-G | c.1701T>G | p.Y567* | Nonsense | 2/2 | - | 5 |
X-12938862-T-C | c.1703T>C | p.F568S | Missense | 2/2 | - | 3 |
X-12938864-AGA-CAT | c.1705_1707delinsCAT | p.R569H | Missense | 2/2 | - | 1 |
X-12938864-AG-CA | c.1705_1706delinsCA | p.R569Q | Missense | 2/2 | - | 1 |
X-12938864-A-T | c.1705A>T | p.R569* | Nonsense | 2/2 | - | 1 |
X-12938873-GGC-TGA | c.1714_1716delinsTGA | p.G572* | Nonsense | 2/2 | - | 4 |
X-12938874-G-A | c.1715G>A | p.G572D | Missense | 2/2 | - | 1 |
X-12938874-G-T | c.1715G>T | p.G572V | Missense | 2/2 | - | 1 |
X-12938876-G-A | c.1717G>A | p.V573I | Missense | 2/2 | - | 2 |
X-12938876-GT-TA | c.1717_1718delinsTA | p.V573* | Nonsense | 2/2 | - | 1 |
X-12938879-AC-TA | c.1720_1721delinsTA | p.T574* | Nonsense | 2/2 | - | 3 |
X-12938879-A-G | c.1720A>G | p.T574A | Missense | 2/2 | - | 2 |
X-12938881-A-C | c.1722A>C | p.T574= | Synonymous | 2/2 | - | 1 |
X-12938881-A-G | c.1722A>G | p.T574= | Synonymous | 2/2 | - | 1 |
X-12938881-A-T | c.1722A>T | p.T574= | Synonymous | 2/2 | - | 2 |
X-12938882-C-T | c.1723C>T | p.H575Y | Missense | 2/2 | - | 1 |
X-12938885-CAT-TAA | c.1726_1728delinsTAA | p.H576* | Nonsense | 2/2 | - | 1 |
X-12938895-T-G | c.1736T>G | p.F579C | Missense | 2/2 | - | 1 |
X-12938898-T-C | c.1739T>C | p.I580T | Missense | 2/2 | - | 1 |
X-12938905-T-C | c.1746T>C | p.N582= | Synonymous | 2/2 | - | 1 |
X-12938917-A-G | c.1758A>G | p.L586= | Synonymous | 2/2 | - | 1 |
X-12938918-A-G | c.1759A>G | p.K587E | Missense | 2/2 | - | 1 |
X-12938932-G-A | c.1773G>A | p.L591= | Synonymous | 2/2 | - | 1 |
X-12938936-C-A | c.1777C>A | p.H593N | Missense | 2/2 | - | 1 |
X-12938939-A-C | c.1780A>C | p.N594H | Missense | 2/2 | - | 1 |
X-12938969-A-T | c.1810A>T | p.N604Y | Missense | 2/2 | - | 1 |
X-12938972-C-G | c.1813C>G | p.L605V | Missense | 2/2 | - | 1 |
X-12938975-G-A | c.1816G>A | p.E606K | Missense | 2/2 | - | 7 |
X-12938977-A-C | c.1818A>C | p.E606D | Missense | 2/2 | - | 1 |
X-12938977-A-T | c.1818A>T | p.E606D | Missense | 2/2 | - | 1 |
X-12938978-AG-TT | c.1819_1820delinsTT | p.S607F | Missense | 2/2 | - | 1 |
X-12938993-G-A | c.1834G>A | p.E612K | Missense | 2/2 | - | 1 |
X-12938993-G-T | c.1834G>T | p.E612* | Nonsense | 2/2 | - | 2 |
X-12938995-A-C | c.1836A>C | p.E612D | Missense | 2/2 | - | 1 |
X-12938995-A-T | c.1836A>T | p.E612D | Missense | 2/2 | - | 1 |
X-12939006-G-A | c.1847G>A | p.S616N | Missense | 2/2 | - | 1 |
X-12939014-CGC-TGG | c.1855_1857delinsTGG | p.R619W | Missense | 2/2 | - | 1 |
X-12939014-C-T | c.1855C>T | p.R619C | Missense | 2/2 | - | 4 |
X-12939015-G-A | c.1856G>A | p.R619H | Missense | 2/2 | - | 1 |
X-12939030-G-A | c.1871G>A | p.W624* | Nonsense | 2/2 | - | 1 |
X-12939031-G-A | c.1872G>A | p.W624* | Nonsense | 2/2 | - | 1 |
X-12939041-G-T | c.1882G>T | p.D628Y | Missense | 2/2 | - | 1 |
X-12939042-A-T | c.1883A>T | p.D628V | Missense | 2/2 | - | 1 |
X-12939056-T-A | c.1897T>A | p.S633T | Missense | 2/2 | - | 3 |
X-12939056-T-C | c.1897T>C | p.S633P | Missense | 2/2 | - | 1 |
X-12939057-C-T | c.1898C>T | p.S633F | Missense | 2/2 | - | 1 |
X-12939069-G-A | c.1910G>A | p.G637D | Missense | 2/2 | - | 1 |
X-12939069-GT-AG | c.1910_1911delinsAG | p.G637E | Missense | 2/2 | - | 1 |
X-12939076-G-T | c.1917G>T | p.K639N | Missense | 2/2 | - | 1 |
X-12939078-A-C | c.1919A>C | p.N640T | Missense | 2/2 | - | 1 |
X-12939079-T-A | c.1920T>A | p.N640K | Missense | 2/2 | - | 1 |
X-12939079-T-G | c.1920T>G | p.N640K | Missense | 2/2 | - | 1 |
X-12939082-G-T | c.1923G>T | p.L641= | Synonymous | 2/2 | - | 1 |
X-12939087-G-A | c.1928G>A | p.R643H | Missense | 2/2 | - | 2 |
X-12939092-G-A | c.1933G>A | p.D645N | Missense | 2/2 | - | 5 |
X-12939092-G-T | c.1933G>T | p.D645Y | Missense | 2/2 | - | 1 |
X-12939095-T-C | c.1936T>C | p.L646= | Synonymous | 2/2 | - | 1 |
X-12939097-A-G | c.1938A>G | p.L646= | Synonymous | 2/2 | - | 1 |
X-12939106-T-C | c.1947T>C | p.N649= | Synonymous | 2/2 | - | 1 |
X-12939107-AG-CA | c.1948_1949delinsCA | p.R650Q | Missense | 2/2 | - | 2 |
X-12939109-G-A | c.1950G>A | p.R650= | Synonymous | 2/2 | - | 1 |
X-12939110-C-T | c.1951C>T | p.L651= | Synonymous | 2/2 | - | 2 |
X-12939112-G-A | c.1953G>A | p.L651= | Synonymous | 2/2 | - | 32 |
X-12939112-G-C | c.1953G>C | p.L651= | Synonymous | 2/2 | - | 34 |
X-12939112-G-T | c.1953G>T | p.L651= | Synonymous | 2/2 | - | 2 |
X-12939115-G-T | c.1956G>T | p.K652N | Missense | 2/2 | - | 1 |
X-12939135-T-G | c.1976T>G | p.F659C | Missense | 2/2 | - | 1 |
X-12939147-C-T | c.1988C>T | p.P663L | Missense | 2/2 | - | 1 |
X-12939149-G-A | c.1990G>A | p.A664T | Missense | 2/2 | - | 1 |
X-12939151-G-A | c.1992G>A | p.A664= | Synonymous | 2/2 | - | 1 |
X-12939151-G-C | c.1992G>C | p.A664= | Synonymous | 2/2 | - | 1 |
X-12939151-G-T | c.1992G>T | p.A664= | Synonymous | 2/2 | - | 1 |
X-12939155-C-G | c.1996C>G | p.L666V | Missense | 2/2 | - | 1 |
X-12939158-A-T | c.1999A>T | p.T667S | Missense | 2/2 | - | 1 |
X-12939159-C-G | c.2000C>G | p.T667S | Missense | 2/2 | - | 1 |
X-12939164-C-T | c.2005C>T | p.L669= | Synonymous | 2/2 | - | 3 |
X-12939166-A-C | c.2007A>C | p.L669= | Synonymous | 2/2 | - | 3 |
X-12939166-A-G | c.2007A>G | p.L669= | Synonymous | 2/2 | - | 3 |
X-12939166-A-T | c.2007A>T | p.L669= | Synonymous | 2/2 | - | 3 |
X-12939168-A-T | c.2009A>T | p.H670L | Missense | 2/2 | - | 1 |
X-12939183-T-C | c.2024T>C | p.M675T | Missense | 2/2 | - | 2 |
X-12939184-G-A | c.2025G>A | p.M675I | Missense | 2/2 | - | 1 |
X-12939188-A-G | c.2029A>G | p.K677E | Missense | 2/2 | - | 1 |
X-12939190-G-A | c.2031G>A | p.K677= | Synonymous | 2/2 | - | 1 |
X-12939190-G-C | c.2031G>C | p.K677N | Missense | 2/2 | - | 2 |
X-12939190-G-T | c.2031G>T | p.K677N | Missense | 2/2 | - | 3 |
X-12939199-C-T | c.2040C>T | p.N680= | Synonymous | 2/2 | - | 1 |
X-12939202-G-A | c.2043G>A | p.W681* | Nonsense | 2/2 | - | 1 |
X-12939203-A-G | c.2044A>G | p.T682A | Missense | 2/2 | - | 2 |
X-12939211-C-T | c.2052C>T | p.L684= | Synonymous | 2/2 | - | 1 |
X-12939214-G-A | c.2055G>A | p.Q685= | Synonymous | 2/2 | - | 1 |
X-12939214-G-C | c.2055G>C | p.Q685H | Missense | 2/2 | - | 1 |
X-12939214-G-T | c.2055G>T | p.Q685H | Missense | 2/2 | - | 1 |
X-12939215-C-A | c.2056C>A | p.Q686K | Missense | 2/2 | - | 1 |
X-12939219-T-A | c.2060T>A | p.F687Y | Missense | 2/2 | - | 1 |
X-12939225-G-A | c.2066G>A | p.R689H | Missense | 2/2 | - | 1 |
X-12939232-G-C | c.2073G>C | p.E691D | Missense | 2/2 | - | 1 |
X-12939237-T-C | c.2078T>C | p.L693P | Missense | 2/2 | - | 1 |
X-12939245-C-A | c.2086C>A | p.R696S | Missense | 2/2 | - | 1 |
X-12939245-C-T | c.2086C>T | p.R696C | Missense | 2/2 | - | 1 |
X-12939249-G-A | c.2090G>A | p.G697E | Missense | 2/2 | - | 1 |
X-12939262-C-A | c.2103C>A | p.L701= | Synonymous | 2/2 | - | 1 |
X-12939276-G-A | c.2117G>A | p.S706N | Missense | 2/2 | - | 1 |
X-12939275-A-C | c.2116A>C | p.S706R | Missense | 2/2 | - | 2 |
X-12939277-C-A | c.2118C>A | p.S706R | Missense | 2/2 | - | 3 |
X-12939277-C-G | c.2118C>G | p.S706R | Missense | 2/2 | - | 2 |
X-12939284-G-A | c.2125G>A | p.D709N | Missense | 2/2 | - | 2 |
X-12939284-G-T | c.2125G>T | p.D709Y | Missense | 2/2 | - | 3 |
X-12939289-T-C | c.2130T>C | p.F710= | Synonymous | 2/2 | - | 1 |
X-12939293-T-A | c.2134T>A | p.S712T | Missense | 2/2 | - | 2 |
X-12939303-G-A | c.2144G>A | p.R715Q | Missense | 2/2 | - | 4 |
X-12939303-G-C | c.2144G>C | p.R715P | Missense | 2/2 | - | 2 |
X-12939306-C-T | c.2147C>T | p.T716I | Missense | 2/2 | - | 1 |
X-12939316-G-T | c.2157G>T | p.L719= | Synonymous | 2/2 | - | 1 |
X-12939327-G-A | c.2168G>A | p.R723K | Missense | 2/2 | - | 1 |
X-12939328-G-A | c.2169G>A | p.R723= | Synonymous | 2/2 | - | 1 |
X-12939333-C-T | c.2174C>T | p.S725F | Missense | 2/2 | - | 3 |
X-12939338-C-T | c.2179C>T | p.L727= | Synonymous | 2/2 | - | 1 |
X-12939340-A-C | c.2181A>C | p.L727= | Synonymous | 2/2 | - | 1 |
X-12939340-A-G | c.2181A>G | p.L727= | Synonymous | 2/2 | - | 1 |
X-12939340-A-T | c.2181A>T | p.L727= | Synonymous | 2/2 | - | 1 |
X-12939342-C-T | c.2183C>T | p.P728L | Missense | 2/2 | - | 1 |
X-12939348-G-A | c.2189G>A | p.G730D | Missense | 2/2 | - | 1 |
X-12939357-C-A | c.2198C>A | p.S733Y | Missense | 2/2 | - | 2 |
X-12939358-T-C | c.2199T>C | p.S733= | Synonymous | 2/2 | - | 1 |
X-12939359-G-T | c.2200G>T | p.E734* | Nonsense | 2/2 | - | 1 |
X-12939360-A-T | c.2201A>T | p.E734V | Missense | 2/2 | - | 1 |
X-12939365-A-T | c.2206A>T | p.S736C | Missense | 2/2 | - | 1 |
X-12939371-C-T | c.2212C>T | p.L738= | Synonymous | 2/2 | - | 1 |
X-12939373-G-A | c.2214G>A | p.L738= | Synonymous | 2/2 | - | 1 |
X-12939373-G-C | c.2214G>C | p.L738= | Synonymous | 2/2 | - | 1 |
X-12939373-G-T | c.2214G>T | p.L738= | Synonymous | 2/2 | - | 1 |
X-12939376-G-C | c.2217G>C | p.K739N | Missense | 2/2 | - | 1 |
X-12939376-G-T | c.2217G>T | p.K739N | Missense | 2/2 | - | 1 |
X-12939378-AC-A | c.2221del | p.L741Sfs*3 | Frameshift | 2/2 | - | 1 |
X-12939380-C-A | c.2221C>A | p.L741I | Missense | 2/2 | - | 1 |
X-12939382-C-A | c.2223C>A | p.L741= | Synonymous | 2/2 | - | 1 |
X-12939382-C-G | c.2223C>G | p.L741= | Synonymous | 2/2 | - | 1 |
X-12939382-C-T | c.2223C>T | p.L741= | Synonymous | 2/2 | - | 2 |
X-12939389-A-C | c.2230A>C | p.S744R | Missense | 2/2 | - | 1 |
X-12939391-T-A | c.2232T>A | p.S744R | Missense | 2/2 | - | 1 |
X-12939391-T-G | c.2232T>G | p.S744R | Missense | 2/2 | - | 1 |
X-12939398-C-T | c.2239C>T | p.L747= | Synonymous | 2/2 | - | 3 |
X-12939406-A-G | c.2247A>G | p.K749= | Synonymous | 2/2 | - | 1 |
X-12939407-A-G | c.2248A>G | p.T750A | Missense | 2/2 | - | 1 |
X-12939412-C-A | c.2253C>A | p.I751= | Synonymous | 2/2 | - | 25 |
X-12939412-C-T | c.2253C>T | p.I751= | Synonymous | 2/2 | - | 11 |
X-12939415-C-T | c.2256C>T | p.N752= | Synonymous | 2/2 | - | 1 |
X-12939420-C-G | c.2261C>G | p.S754C | Missense | 2/2 | - | 1 |
X-12939421-C-A | c.2262C>A | p.S754= | Synonymous | 2/2 | - | 3 |
X-12939421-C-G | c.2262C>G | p.S754= | Synonymous | 2/2 | - | 3 |
X-12939421-C-T | c.2262C>T | p.S754= | Synonymous | 2/2 | - | 8 |
X-12939422-G-A | c.2263G>A | p.A755T | Missense | 2/2 | - | 1 |
X-12939435-A-G | c.2276A>G | p.K759R | Missense | 2/2 | - | 1 |
X-12939437-A-G | c.2278A>G | p.T760A | Missense | 2/2 | - | 1 |
X-12939440-A-C | c.2281A>C | p.T761P | Missense | 2/2 | - | 1 |
X-12939447-A-G | c.2288A>G | p.K763R | Missense | 2/2 | - | 1 |
X-12939453-C-A | c.2294C>A | p.S765Y | Missense | 2/2 | - | 2 |
X-12939462-A-G | c.2303A>G | p.E768G | Missense | 2/2 | - | 1 |
X-12939464-C-T | c.2305C>T | p.L769= | Synonymous | 2/2 | - | 1 |
X-12939467-C-A | c.2308C>A | p.H770N | Missense | 2/2 | - | 2 |
X-12939468-A-G | c.2309A>G | p.H770R | Missense | 2/2 | - | 3 |
X-12939469-C-T | c.2310C>T | p.H770= | Synonymous | 2/2 | - | 2 |
X-12939470-G-A | c.2311G>A | p.G771R | Missense | 2/2 | - | 4 |
X-12939470-G-C | c.2311G>C | p.G771R | Missense | 2/2 | - | 1 |
X-12939472-A-C | c.2313A>C | p.G771= | Synonymous | 2/2 | - | 1 |
X-12939473-A-G | c.2314A>G | p.N772D | Missense | 2/2 | - | 1 |
X-12939480-T-A | c.2321T>A | p.F774Y | Missense | 2/2 | - | 1 |
X-12939482-G-A | c.2323G>A | p.E775K | Missense | 2/2 | - | 2 |
X-12939484-A-C | c.2325A>C | p.E775D | Missense | 2/2 | - | 1 |
X-12939484-A-T | c.2325A>T | p.E775D | Missense | 2/2 | - | 1 |
X-12939486-G-T | c.2327G>T | p.C776F | Missense | 2/2 | - | 1 |
X-12939490-C-A | c.2331C>A | p.T777= | Synonymous | 2/2 | - | 1 |
X-12939490-C-G | c.2331C>G | p.T777= | Synonymous | 2/2 | - | 1 |
X-12939490-C-T | c.2331C>T | p.T777= | Synonymous | 2/2 | - | 1 |
X-12939498-T-C | c.2339T>C | p.I780T | Missense | 2/2 | - | 1 |
X-12939501-G-C | c.2342G>C | p.G781A | Missense | 2/2 | - | 1 |
X-12939503-G-A | c.2344G>A | p.D782N | Missense | 2/2 | - | 1 |
X-12939505-T-C | c.2346T>C | p.D782= | Synonymous | 2/2 | - | 2 |
X-12939506-T-C | c.2347T>C | p.F783L | Missense | 2/2 | - | 1 |
X-12939508-C-A | c.2349C>A | p.F783L | Missense | 2/2 | - | 1 |
X-12939508-C-G | c.2349C>G | p.F783L | Missense | 2/2 | - | 1 |
X-12939508-C-T | c.2349C>T | p.F783= | Synonymous | 2/2 | - | 3 |
X-12939509-C-T | c.2350C>T | p.R784* | Nonsense | 2/2 | - | 1 |
X-12939510-G-A | c.2351G>A | p.R784Q | Missense | 2/2 | - | 3 |
X-12939512-A-T | c.2353A>T | p.R785* | Nonsense | 2/2 | - | 1 |
X-12939516-G-T | c.2357G>T | p.W786L | Missense | 2/2 | - | 2 |
X-12939520-G-A | c.2361G>A | p.M787I | Missense | 2/2 | - | 4 |
X-12939520-G-C | c.2361G>C | p.M787I | Missense | 2/2 | - | 1 |
X-12939520-G-T | c.2361G>T | p.M787I | Missense | 2/2 | - | 1 |
X-12939521-G-A | c.2362G>A | p.D788N | Missense | 2/2 | - | 2 |
X-12939521-G-C | c.2362G>C | p.D788H | Missense | 2/2 | - | 1 |
X-12939524-GA-G | c.2367del | p.E789Dfs*3 | Frameshift | 2/2 | - | 1 |
X-12939526-A-C | c.2367A>C | p.E789D | Missense | 2/2 | - | 1 |
X-12939526-A-T | c.2367A>T | p.E789D | Missense | 2/2 | - | 1 |
X-12939545-C-A | c.2386C>A | p.P796T | Missense | 2/2 | - | 4 |
X-12939545-C-T | c.2386C>T | p.P796S | Missense | 2/2 | - | 3 |
X-12939547-C-A | c.2388C>A | p.P796= | Synonymous | 2/2 | - | 1 |
X-12939548-A-T | c.2389A>T | p.R797* | Nonsense | 2/2 | - | 1 |
X-12939552-T-C | c.2393T>C | p.L798P | Missense | 2/2 | - | 2 |
X-12939551-C-T | c.2392C>T | p.L798= | Synonymous | 2/2 | - | 1 |
X-12939553-G-A | c.2394G>A | p.L798= | Synonymous | 2/2 | - | 1 |
X-12939553-G-C | c.2394G>C | p.L798= | Synonymous | 2/2 | - | 3 |
X-12939553-G-T | c.2394G>T | p.L798= | Synonymous | 2/2 | - | 1 |
X-12939565-T-G | c.2406T>G | p.I802M | Missense | 2/2 | - | 1 |
X-12939567-G-A | c.2408G>A | p.C803Y | Missense | 2/2 | - | 1 |
X-12939569-G-A | c.2410G>A | p.A804T | Missense | 2/2 | - | 1 |
X-12939570-C-T | c.2411C>T | p.A804V | Missense | 2/2 | - | 3 |
X-12939571-C-T | c.2412C>T | p.A804= | Synonymous | 2/2 | - | 1 |
X-12939578-GGG-AGC | c.2419_2421delinsAGC | p.G807S | Missense | 2/2 | - | 1 |
X-12939584-C-T | c.2425C>T | p.Q809* | Nonsense | 2/2 | - | 2 |
X-12939587-AGA-TGG | c.2428_2430delinsTGG | p.R810W | Missense | 2/2 | - | 1 |
X-12939589-A-C | c.2430A>C | p.R810S | Missense | 2/2 | - | 1 |
X-12939589-A-T | c.2430A>T | p.R810S | Missense | 2/2 | - | 1 |
X-12939592-G-A | c.2433G>A | p.G811= | Synonymous | 2/2 | - | 2 |
X-12939592-G-C | c.2433G>C | p.G811= | Synonymous | 2/2 | - | 1 |
X-12939592-G-T | c.2433G>T | p.G811= | Synonymous | 2/2 | - | 1 |
X-12939594-A-G | c.2435A>G | p.K812R | Missense | 2/2 | - | 1 |
X-12939600-T-G | c.2441T>G | p.I814S | Missense | 2/2 | - | 1 |
X-12939607-T-C | c.2448T>C | p.S816= | Synonymous | 2/2 | - | 1 |
X-12939635-G-C | c.2476G>C | p.V826L | Missense | 2/2 | - | 1 |
X-12939638-A-G | c.2479A>G | p.T827A | Missense | 2/2 | - | 1 |
X-12939641-G-T | c.2482G>T | p.A828S | Missense | 2/2 | - | 1 |
X-12939657-T-TC | c.2499dup | p.F834Lfs*28 | Frameshift | 2/2 | - | 1 |
X-12939660-T-A | c.2501T>A | p.F834Y | Missense | 2/2 | - | 1 |
X-12939661-C-A | c.2502C>A | p.F834L | Missense | 2/2 | - | 1 |
X-12939664-G-A | c.2505G>A | p.T835= | Synonymous | 2/2 | - | 2 |
X-12939664-G-C | c.2505G>C | p.T835= | Synonymous | 2/2 | - | 2 |
X-12939664-G-T | c.2505G>T | p.T835= | Synonymous | 2/2 | - | 2 |
X-12939667-C-A | c.2508C>A | p.F836L | Missense | 2/2 | - | 1 |
X-12939667-C-G | c.2508C>G | p.F836L | Missense | 2/2 | - | 1 |
X-12939677-A-G | c.2518A>G | p.T840A | Missense | 2/2 | - | 1 |
X-12939690-T-A | c.2531T>A | p.L844* | Nonsense | 2/2 | - | 1 |
X-12939693-C-A | c.2534C>A | p.A845D | Missense | 2/2 | - | 1 |
X-12939698-C-T | c.2539C>T | p.L847= | Synonymous | 2/2 | - | 1 |
X-12939700-G-A | c.2541G>A | p.L847= | Synonymous | 2/2 | - | 1 |
X-12939700-G-C | c.2541G>C | p.L847= | Synonymous | 2/2 | - | 2 |
X-12939700-G-T | c.2541G>T | p.L847= | Synonymous | 2/2 | - | 1 |
X-12939716-T-C | c.2557T>C | p.Y853H | Missense | 2/2 | - | 1 |
X-12939723-A-T | c.2564A>T | p.D855V | Missense | 2/2 | - | 2 |
X-12939733-T-C | c.2574T>C | p.F858= | Synonymous | 2/2 | - | 3 |
X-12939740-A-G | c.2581A>G | p.N861D | Missense | 2/2 | - | 2 |
X-12939742-T-C | c.2583T>C | p.N861= | Synonymous | 2/2 | - | 2 |
X-12939764-G-A | c.2605G>A | p.G869S | Missense | 2/2 | - | 4 |
X-12939771-G-A | c.2612G>A | p.R871K | Missense | 2/2 | - | 4 |
X-12939774-C-G | c.2615C>G | p.S872C | Missense | 2/2 | - | 1 |
X-12939776-C-G | c.2617C>G | p.L873V | Missense | 2/2 | - | 1 |
X-12939776-C-T | c.2617C>T | p.L873F | Missense | 2/2 | - | 3 |
X-12939780-C-T | c.2621C>T | p.S874F | Missense | 2/2 | - | 1 |
X-12939784-A-G | c.2625A>G | p.T875= | Synonymous | 2/2 | - | 1 |
X-12939792-C-A | c.2633C>A | p.T878N | Missense | 2/2 | - | 1 |
X-12939795-T-C | c.2636T>C | p.F879S | Missense | 2/2 | - | 2 |
X-12939804-C-T | c.2645C>T | p.A882V | Missense | 2/2 | - | 1 |
X-12939808-C-T | c.2649C>T | p.Y883= | Synonymous | 2/2 | - | 1 |
X-12939813-C-T | c.2654C>T | p.S885F | Missense | 2/2 | - | 4 |
X-12939822-C-T | c.2663C>T | p.T888I | Missense | 2/2 | - | 1 |
X-12939827-G-A | c.2668G>A | p.D890N | Missense | 2/2 | - | 2 |
X-12939831-C-T | c.2672C>T | p.A891V | Missense | 2/2 | - | 1 |
X-12939833-T-A | c.2674T>A | p.S892T | Missense | 2/2 | - | 4 |
X-12939834-C-T | c.2675C>T | p.S892F | Missense | 2/2 | - | 2 |
X-12939842-G-A | c.2683G>A | p.D895N | Missense | 2/2 | - | 1 |
X-12939843-A-T | c.2684A>T | p.D895V | Missense | 2/2 | - | 1 |
X-12939844-C-T | c.2685C>T | p.D895= | Synonymous | 2/2 | - | 3 |
X-12939849-T-C | c.2690T>C | p.V897A | Missense | 2/2 | - | 1 |
X-12939853-A-G | c.2694A>G | p.I898M | Missense | 2/2 | - | 1 |
X-12939863-C-T | c.2704C>T | p.R902C | Missense | 2/2 | - | 2 |
X-12939864-G-A | c.2705G>A | p.R902H | Missense | 2/2 | - | 1 |
X-12939866-T-A | c.2707T>A | p.Y903N | Missense | 2/2 | - | 1 |
X-12939875-GA-G | c.2718del | p.E907Rfs*11 | Frameshift | 2/2 | - | 1 |
X-12939880-G-A | c.2721G>A | p.E907= | Synonymous | 2/2 | - | 1 |
X-12939881-AG-CT | c.2722_2723inv | p.S908L | Missense | 2/2 | - | 1 |
X-12939888-A-C | c.2729A>C | p.D910A | Missense | 2/2 | - | 1 |
X-12939889-CA-C | c.2735del | p.N912Tfs*6 | Frameshift | 2/2 | - | 3 |
X-12939895-C-T | c.2736C>T | p.N912= | Synonymous | 2/2 | - | 4 |
X-12939896-G-A | c.2737G>A | p.V913I | Missense | 2/2 | - | 2 |
X-12939901-CC-TT | c.2742_2743delinsTT | p.L915F | Missense | 2/2 | - | 1 |
X-12939901-C-T | c.2742C>T | p.L914= | Synonymous | 2/2 | - | 1 |
X-12939902-C-T | c.2743C>T | p.L915F | Missense | 2/2 | - | 3 |
X-12939911-G-A | c.2752G>A | p.E918K | Missense | 2/2 | - | 4 |
X-12939914-G-A | c.2755G>A | p.E919K | Missense | 2/2 | - | 1 |
X-12939916-G-A | c.2757G>A | p.E919= | Synonymous | 2/2 | - | 3 |
X-12939917-AGG-TGT | c.2758_2760delinsTGT | p.R920C | Missense | 2/2 | - | 1 |
X-12939920-G-A | c.2761G>A | p.D921N | Missense | 2/2 | - | 3 |
X-12939924-G-C | c.2765G>C | p.W922S | Missense | 2/2 | - | 1 |
X-12939928-T-C | c.2769T>C | p.D923= | Synonymous | 2/2 | - | 18 |
X-12939932-G-A | c.2773G>A | p.G925R | Missense | 2/2 | - | 4 |
X-12939933-G-A | c.2774G>A | p.G925E | Missense | 2/2 | - | 1 |
X-12939946-C-A | c.2787C>A | p.I929= | Synonymous | 2/2 | - | 3 |
X-12939946-C-T | c.2787C>T | p.I929= | Synonymous | 2/2 | - | 3 |
X-12939953-C-T | c.2794C>T | p.L932F | Missense | 2/2 | - | 2 |
X-12939955-C-A | c.2796C>A | p.L932= | Synonymous | 2/2 | - | 1 |
X-12939955-C-G | c.2796C>G | p.L932= | Synonymous | 2/2 | - | 1 |
X-12939955-C-T | c.2796C>T | p.L932= | Synonymous | 2/2 | - | 1 |
X-12939961-G-A | c.2802G>A | p.Q934= | Synonymous | 2/2 | - | 1 |
X-12939969-A-C | c.2810A>C | p.N937T | Missense | 2/2 | - | 1 |
X-12939989-T-G | c.2830T>G | p.F944V | Missense | 2/2 | - | 1 |
X-12939995-T-C | c.2836T>C | p.L946= | Synonymous | 2/2 | - | 2 |
X-12939997-A-G | c.2838A>G | p.L946= | Synonymous | 2/2 | - | 2 |
X-12940004-A-C | c.2845A>C | p.K949Q | Missense | 2/2 | - | 1 |
X-12940000-C-CA | c.2847dup | p.Y950Ifs*8 | Frameshift | 2/2 | - | 2 |
X-12940008-A-T | c.2849A>T | p.Y950F | Missense | 2/2 | - | 1 |
X-12940010-G-A | c.2851G>A | p.A951T | Missense | 2/2 | - | 1 |
X-12940011-C-A | c.2852C>A | p.A951E | Missense | 2/2 | - | 1 |
X-12940011-CA-C | c.2857del | p.S953Afs*15 | Frameshift | 2/2 | - | 1 |
X-12940011-C-CA | c.2857dup | p.S953Kfs*5 | Frameshift | 2/2 | - | 1 |
X-12940017-G-C | c.2858G>C | p.S953T | Missense | 2/2 | - | 3 |
X-12940020-G-A | c.2861G>A | p.W954* | Nonsense | 2/2 | - | 1 |
X-12940021-G-C | c.2862G>C | p.W954C | Missense | 2/2 | - | 2 |
X-12940021-G-T | c.2862G>T | p.W954C | Missense | 2/2 | - | 2 |
X-12940026-T-C | c.2867T>C | p.F956S | Missense | 2/2 | - | 1 |
X-12940035-C-A | c.2876C>A | p.A959D | Missense | 2/2 | - | 2 |
X-12940036-T-A | c.2877T>A | p.A959= | Synonymous | 2/2 | - | 1 |
X-12940036-T-C | c.2877T>C | p.A959= | Synonymous | 2/2 | - | 1 |
X-12940036-T-G | c.2877T>G | p.A959= | Synonymous | 2/2 | - | 2 |
X-12940046-G-GT | c.2887_2888insT | p.A963Vfs*8 | Frameshift | 2/2 | - | 1 |
X-12940047-C-A | c.2888C>A | p.A963D | Missense | 2/2 | - | 1 |
X-12940049-T-A | c.2890T>A | p.L964M | Missense | 2/2 | - | 1 |
X-12940051-G-A | c.2892G>A | p.L964= | Synonymous | 2/2 | - | 1 |
X-12940058-C-A | c.2899C>A | p.L967I | Missense | 2/2 | - | 1 |
X-12940058-CTA-TTT | c.2899_2901delinsTTT | p.L967F | Missense | 2/2 | - | 1 |
X-12940059-T-TA | c.2902dup | p.M968Nfs*3 | Frameshift | 2/2 | - | 2 |
X-12940064-G-A | c.2905G>A | p.D969N | Missense | 2/2 | - | 1 |
X-12940065-A-T | c.2906A>T | p.D969V | Missense | 2/2 | - | 2 |
X-12940072-C-A | c.2913C>A | p.N971K | Missense | 2/2 | - | 1 |
X-12940072-C-G | c.2913C>G | p.N971K | Missense | 2/2 | - | 1 |
X-12940075-G-T | c.2916G>T | p.M972I | Missense | 2/2 | - | 2 |
X-12940076-G-A | c.2917G>A | p.D973N | Missense | 2/2 | - | 1 |
X-12940087-A-T | c.2928A>T | p.I976= | Synonymous | 2/2 | - | 1 |
X-12940093-C-A | c.2934C>A | p.I978= | Synonymous | 2/2 | - | 1 |
X-12940093-C-T | c.2934C>T | p.I978= | Synonymous | 2/2 | - | 2 |
X-12940094-C-T | c.2935C>T | p.L979= | Synonymous | 2/2 | - | 1 |
X-12940096-G-A | c.2937G>A | p.L979= | Synonymous | 2/2 | - | 1 |
X-12940096-G-C | c.2937G>C | p.L979= | Synonymous | 2/2 | - | 1 |
X-12940096-G-T | c.2937G>T | p.L979= | Synonymous | 2/2 | - | 1 |
X-12940102-G-A | c.2943G>A | p.E981= | Synonymous | 2/2 | - | 1 |
X-12940108-G-A | c.2949G>A | p.V983= | Synonymous | 2/2 | - | 2 |
X-12940120-T-A | c.2961T>A | p.S987= | Synonymous | 2/2 | - | 1 |
X-12940120-T-C | c.2961T>C | p.S987= | Synonymous | 2/2 | - | 1 |
X-12940120-T-G | c.2961T>G | p.S987= | Synonymous | 2/2 | - | 1 |
X-12940121-C-T | c.2962C>T | p.Q988* | Nonsense | 2/2 | - | 1 |
X-12940129-G-C | c.2970G>C | p.L990F | Missense | 2/2 | - | 1 |
X-12940129-G-T | c.2970G>T | p.L990F | Missense | 2/2 | - | 1 |
X-12940133-C-T | c.2974C>T | p.L992= | Synonymous | 2/2 | - | 1 |
X-12940135-A-C | c.2976A>C | p.L992= | Synonymous | 2/2 | - | 1 |
X-12940135-A-G | c.2976A>G | p.L992= | Synonymous | 2/2 | - | 1 |
X-12940135-A-T | c.2976A>T | p.L992= | Synonymous | 2/2 | - | 1 |
X-12940142-C-T | c.2983C>T | p.R995W | Missense | 2/2 | - | 1 |
X-12940143-G-A | c.2984G>A | p.R995Q | Missense | 2/2 | - | 3 |
X-12940147-C-T | c.2988C>T | p.I996= | Synonymous | 2/2 | - | 1 |
X-12940153-G-A | c.2994G>A | p.K998= | Synonymous | 2/2 | - | 1 |
X-12940158-C-T | c.2999C>T | p.S1000F | Missense | 2/2 | - | 2 |
X-12940173-C-T | c.3014C>T | p.P1005L | Missense | 2/2 | - | 4 |
X-12940174-T-C | c.3015T>C | p.P1005= | Synonymous | 2/2 | - | 1 |
X-12940187-G-A | c.3028G>A | p.A1010T | Missense | 2/2 | - | 1 |
X-12940195-C-A | c.3036C>A | p.G1012= | Synonymous | 2/2 | - | 1 |
X-12940215-G-T | c.3056G>T | p.R1019I | Missense | 2/2 | - | 1 |
X-12940217-A-C | c.3058A>C | p.N1020H | Missense | 2/2 | - | 1 |
X-12940225-C-A | c.3066C>A | p.V1022= | Synonymous | 2/2 | - | 2 |
X-12940225-C-G | c.3066C>G | p.V1022= | Synonymous | 2/2 | - | 2 |
X-12940225-C-T | c.3066C>T | p.V1022= | Synonymous | 2/2 | - | 2 |
X-12940229-A-G | c.3070A>G | p.T1024A | Missense | 2/2 | - | 2 |
X-12940232-G-A | c.3073G>A | p.E1025K | Missense | 2/2 | - | 2 |
X-12940244-C-T | c.3085C>T | p.R1029W | Missense | 2/2 | - | 6 |
X-12940245-G-A | c.3086G>A | p.R1029Q | Missense | 2/2 | - | 1 |
X-12940257-T-A | c.3098T>A | p.M1033K | Missense | 2/2 | - | 2 |
X-12940264-C-A | c.3105C>A | p.V1035= | Synonymous | 2/2 | - | 4 |
X-12940264-C-G | c.3105C>G | p.V1035= | Synonymous | 2/2 | - | 4 |
X-12940264-C-T | c.3105C>T | p.V1035= | Synonymous | 2/2 | - | 5 |
X-12940265-G-A | c.3106G>A | p.D1036N | Missense | 2/2 | - | 1 |
X-12940267-T-C | c.3108T>C | p.D1036= | Synonymous | 2/2 | - | 1 |
X-12940269-C-T | c.3110C>T | p.S1037F | Missense | 2/2 | - | 1 |
X-12940275-A-G | c.3116A>G | p.K1039R | Missense | 2/2 | - | 1 |
X-12940375-C-T | c.*90C>T | - | 3-UTRSNV | 2/2 | - | 1 |
X-12940564-G-C | c.*279G>C | - | 3-UTRSNV | 2/2 | - | 4 |
X-12940564-G-T | c.*279G>T | - | 3-UTRSNV | 2/2 | - | 4 |
X-12940813-T-C | c.*528T>C | - | 3-UTRSNV | 2/2 | - | 1 |