Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-19203588-A-G | c.*629T>C | - | 3-UTRSNV | 6/6 | - | 2 |
11-19204205-C-T | c.*12G>A | - | 3-UTRSNV | 6/6 | - | 1 |
11-19204226-C-G | c.576G>C | p.K192N | Missense | 6/6 | - | 2 |
11-19204226-C-T | c.576G>A | p.K192= | Synonymous | 6/6 | - | 2 |
11-19204228-T-G | c.574A>C | p.K192Q | Missense | 6/6 | - | 2 |
11-19204230-T-C | c.572A>G | p.E191G | Missense | 6/6 | - | 1 |
11-19204231-C-A | c.571G>T | p.E191* | Nonsense | 6/6 | - | 2 |
11-19204231-C-T | c.571G>A | p.E191K | Missense | 6/6 | - | 1 |
11-19204234-C-A | c.568G>T | p.V190L | Missense | 6/6 | - | 4 |
11-19204234-C-T | c.568G>A | p.V190M | Missense | 6/6 | - | 1 |
11-19204240-TG-T | c.562del | p.Q188Nfs*20 | Frameshift | 6/6 | - | 1 |
11-19204258-C-G | c.544G>C | p.G182R | Missense | 6/6 | - | 2 |
11-19204262-A-C | c.540T>G | p.G180= | Synonymous | 6/6 | - | 1 |
11-19204262-A-G | c.540T>C | p.G180= | Synonymous | 6/6 | - | 1 |
11-19204262-A-T | c.540T>A | p.G180= | Synonymous | 6/6 | - | 1 |
11-19204263-C-T | c.539G>A | p.G180D | Missense | 6/6 | - | 1 |
11-19204264-C-A | c.538G>T | p.G180C | Missense | 6/6 | - | 2 |
11-19204265-C-A | c.537G>T | p.T179= | Synonymous | 6/6 | - | 1 |
11-19204265-C-G | c.537G>C | p.T179= | Synonymous | 6/6 | - | 1 |
11-19204265-C-T | c.537G>A | p.T179= | Synonymous | 6/6 | - | 5 |
11-19204266-G-A | c.536C>T | p.T179M | Missense | 6/6 | - | 7 |
11-19204266-G-C | c.536C>G | p.T179R | Missense | 6/6 | - | 3 |
11-19204267-T-C | c.535A>G | p.T179A | Missense | 6/6 | - | 4 |
11-19204269-G-A | c.533C>T | p.P178L | Missense | 6/6 | - | 5 |
11-19204270-G-C | c.532C>G | p.P178A | Missense | 6/6 | - | 1 |
11-19204273-C-T | c.529G>A | p.G177S | Missense | 6/6 | - | 1 |
11-19204275-A-C | c.527T>G | p.F176C | Missense | 6/6 | - | 1 |
11-19204277-A-C | c.525T>G | p.N175K | Missense | 6/6 | - | 2 |
11-19204277-A-T | c.525T>A | p.N175K | Missense | 6/6 | - | 1 |
11-19204278-T-C | c.524A>G | p.N175S | Missense | 6/6 | - | 1 |
11-19204278-T-G | c.524A>C | p.N175T | Missense | 6/6 | - | 1 |
11-19204279-T-TA | c.522_523insT | p.N175* | Nonsense | 6/6 | - | 1 |
11-19204277-A-AT | c.524dup | p.N175Kfs*39 | Frameshift | 6/6 | - | 1 |
11-19204282-T-C | c.520A>G | p.K174E | Missense | 6/6 | - | 1 |
11-19204286-A-G | c.516T>C | p.Y172= | Synonymous | 6/6 | - | 1 |
11-19204288-A-G | c.514T>C | p.Y172H | Missense | 6/6 | - | 1 |
11-19204293-A-G | c.509T>C | p.V170A | Missense | 6/6 | - | 1 |
11-19204293-A-T | c.509T>A | p.V170D | Missense | 6/6 | - | 1 |
11-19204403-A-G | c.509-110T>C | - | IntronicSNV | - | 5/5 | 4 |
11-19206426-A-T | c.508+73T>A | - | IntronicSNV | - | 5/5 | 5 |
11-19206481-G-A | c.508+18C>T | - | IntronicSNV | - | 5/5 | 1 |
11-19206499-C-G | c.508G>C | p.V170L | Missense | 5/6 | - | 1 |
11-19206501-T-C | c.506A>G | p.K169R | Missense | 5/6 | - | 1 |
11-19206513-T-C | c.494A>G | p.E165G | Missense | 5/6 | - | 1 |
11-19206514-C-T | c.493G>A | p.E165K | Missense | 5/6 | - | 4 |
11-19206515-C-T | c.492G>A | p.G164= | Synonymous | 5/6 | - | 1 |
11-19206520-C-A | c.487G>T | p.D163Y | Missense | 5/6 | - | 1 |
11-19206523-T-A | c.484A>T | p.K162* | Nonsense | 5/6 | - | 5 |
11-19206524-G-C | c.483C>G | p.D161E | Missense | 5/6 | - | 1 |
11-19206524-G-T | c.483C>A | p.D161E | Missense | 5/6 | - | 1 |
11-19206535-T-C | c.472A>G | p.N158D | Missense | 5/6 | - | 2 |
11-19206538-T-G | c.469A>C | p.T157P | Missense | 5/6 | - | 1 |
11-19206542-C-A | c.465G>T | p.E155D | Missense | 5/6 | - | 2 |
11-19206542-C-G | c.465G>C | p.E155D | Missense | 5/6 | - | 1 |
11-19206546-A-C | c.461T>G | p.L154R | Missense | 5/6 | - | 1 |
11-19206546-CA-C | c.461del | p.L154Rfs*54 | Frameshift | 5/6 | - | 1 |
11-19206547-G-T | c.460C>A | p.L154M | Missense | 5/6 | - | 1 |
11-19206550-T-C | c.457A>G | p.S153G | Missense | 5/6 | - | 1 |
11-19206551-C-T | c.456G>A | p.K152= | Synonymous | 5/6 | - | 1 |
11-19206555-C-G | c.452G>C | p.G151A | Missense | 5/6 | - | 1 |
11-19206555-C-T | c.452G>A | p.G151E | Missense | 5/6 | - | 1 |
11-19206558-C-T | c.449G>A | p.C150Y | Missense | 5/6 | - | 8 |
11-19206559-A-G | c.448T>C | p.C150R | Missense | 5/6 | - | 3 |
11-19206561-A-T | c.446T>A | p.I149N | Missense | 5/6 | - | 1 |
11-19206564-GC-AG | c.442_443delinsCT | p.A148L | Missense | 5/6 | - | 1 |
11-19206570-C-A | c.437G>T | p.R146L | Missense | 5/6 | - | 1 |
11-19206570-C-T | c.437G>A | p.R146H | Missense | 5/6 | - | 13 |
11-19206571-G-A | c.436C>T | p.R146C | Missense | 5/6 | - | 6 |
11-19206573-A-C | c.434T>G | p.F145C | Missense | 5/6 | - | 1 |
11-19206573-A-G | c.434T>C | p.F145S | Missense | 5/6 | - | 1 |
11-19206579-G-A | c.428C>T | p.T143I | Missense | 5/6 | - | 2 |
11-19206579-G-C | c.428C>G | p.T143S | Missense | 5/6 | - | 1 |
11-19206580-T-A | c.427A>T | p.T143S | Missense | 5/6 | - | 1 |
11-19206583-T-C | c.424A>G | p.K142E | Missense | 5/6 | - | 1 |
11-19206585-T-G | c.422A>C | p.H141P | Missense | 5/6 | - | 1 |
11-19206586-G-T | c.421C>A | p.H141N | Missense | 5/6 | - | 1 |
11-19206587-C-G | c.420G>C | p.W140C | Missense | 5/6 | - | 1 |
11-19206592-G-A | c.415C>T | p.P139S | Missense | 5/6 | - | 1 |
11-19206592-G-T | c.415C>A | p.P139T | Missense | 5/6 | - | 1 |
11-19207757-T-C | c.414+6A>G | - | IntronicSNV | - | 4/5 | 1 |
11-19207765-T-G | c.412A>C | p.K138Q | Missense | 4/6 | - | 1 |
11-19207766-G-T | c.411C>A | p.G137= | Synonymous | 4/6 | - | 1 |
11-19207770-C-G | c.407G>C | p.G136A | Missense | 4/6 | - | 1 |
11-19207783-T-A | c.394A>T | p.K132* | Nonsense | 4/6 | - | 1 |
11-19207786-C-T | c.391G>A | p.E131K | Missense | 4/6 | - | 1 |
11-19207789-C-G | c.388G>C | p.A130P | Missense | 4/6 | - | 1 |
11-19207791-G-A | c.386C>T | p.A129V | Missense | 4/6 | - | 1 |
11-19207791-G-C | c.386C>G | p.A129G | Missense | 4/6 | - | 1 |
11-19207792-C-A | c.385G>T | p.A129S | Missense | 4/6 | - | 1 |
11-19207794-T-C | c.383A>G | p.Y128C | Missense | 4/6 | - | 1 |
11-19207795-A-T | c.382T>A | p.Y128N | Missense | 4/6 | - | 3 |
11-19207796-G-T | c.381C>A | p.V127= | Synonymous | 4/6 | - | 1 |
11-19207798-C-T | c.379G>A | p.V127I | Missense | 4/6 | - | 4 |
11-19207800-G-A | c.377C>T | p.S126L | Missense | 4/6 | - | 3 |
11-19207800-G-C | c.377C>G | p.S126* | Nonsense | 4/6 | - | 1 |
11-19207804-T-G | c.373A>C | p.K125Q | Missense | 4/6 | - | 1 |
11-19207810-A-G | c.367T>C | p.C123R | Missense | 4/6 | - | 1 |
11-19207812-C-T | c.365G>A | p.R122Q | Missense | 4/6 | - | 1 |
11-19207813-G-A | c.364C>T | p.R122* | Nonsense | 4/6 | - | 11 |
11-19207813-G-T | c.364C>A | p.R122= | Synonymous | 4/6 | - | 1 |
11-19207814-A-C | c.363T>G | p.P121= | Synonymous | 4/6 | - | 2 |
11-19207814-A-G | c.363T>C | p.P121= | Synonymous | 4/6 | - | 1 |
11-19207814-A-T | c.363T>A | p.P121= | Synonymous | 4/6 | - | 1 |
11-19207816-G-A | c.361C>T | p.P121S | Missense | 4/6 | - | 3 |
11-19207814-AG-A | c.362del | p.P121Lfs*87 | Frameshift | 4/6 | - | 1 |
11-19207818-C-T | c.359G>A | p.C120Y | Missense | 4/6 | - | 1 |
11-19207819-A-G | c.358T>C | p.C120R | Missense | 4/6 | - | 1 |
11-19207821-T-C | c.356A>G | p.K119R | Missense | 4/6 | - | 2 |
11-19207823-C-A | c.354G>T | p.E118D | Missense | 4/6 | - | 1 |
11-19207823-C-G | c.354G>C | p.E118D | Missense | 4/6 | - | 1 |
11-19207823-C-T | c.354G>A | p.E118= | Synonymous | 4/6 | - | 1 |
11-19207824-T-C | c.353A>G | p.E118G | Missense | 4/6 | - | 1 |
11-19207825-C-T | c.352G>A | p.E118K | Missense | 4/6 | - | 3 |
11-19207826-G-A | c.351C>T | p.S117= | Synonymous | 4/6 | - | 1 |
11-19207833-C-T | c.344G>A | p.G115E | Missense | 4/6 | - | 2 |
11-19207840-T-A | c.337A>T | p.K113* | Nonsense | 4/6 | - | 1 |
11-19207841-C-G | c.336G>C | p.A112= | Synonymous | 4/6 | - | 6 |
11-19207841-C-T | c.336G>A | p.A112= | Synonymous | 4/6 | - | 5 |
11-19207842-G-A | c.335C>T | p.A112V | Missense | 4/6 | - | 1 |
11-19207842-G-T | c.335C>A | p.A112E | Missense | 4/6 | - | 1 |
11-19207843-C-G | c.334G>C | p.A112P | Missense | 4/6 | - | 1 |
11-19207845-G-C | c.332C>G | p.T111S | Missense | 4/6 | - | 1 |
11-19207849-A-T | c.328T>A | p.F110I | Missense | 4/6 | - | 2 |
11-19207854-GA-CG | c.322_323delinsCG | p.S108R | Missense | 4/6 | - | 1 |
11-19207856-A-C | c.321T>G | p.P107= | Synonymous | 4/6 | - | 1 |
11-19207856-A-G | c.321T>C | p.P107= | Synonymous | 4/6 | - | 1 |
11-19207856-A-T | c.321T>A | p.P107= | Synonymous | 4/6 | - | 1 |
11-19207857-G-A | c.320C>T | p.P107L | Missense | 4/6 | - | 1 |
11-19207863-C-G | c.314G>C | p.S105T | Missense | 4/6 | - | 1 |
11-19207865-G-C | c.312C>G | p.T104= | Synonymous | 4/6 | - | 2 |
11-19207866-G-A | c.311C>T | p.T104I | Missense | 4/6 | - | 1 |
11-19207875-G-A | c.302C>T | p.S101L | Missense | 4/6 | - | 2 |
11-19207877-G-A | c.300C>T | p.R100= | Synonymous | 4/6 | - | 1 |
11-19207877-G-C | c.300C>G | p.R100= | Synonymous | 4/6 | - | 1 |
11-19207878-C-T | c.299G>A | p.R100H | Missense | 4/6 | - | 15 |
11-19207879-G-A | c.298C>T | p.R100C | Missense | 4/6 | - | 1 |
11-19207882-C-T | c.295G>A | p.A99T | Missense | 4/6 | - | 1 |
11-19207883-C-T | c.294G>A | p.P98= | Synonymous | 4/6 | - | 2 |
11-19207884-G-T | c.293C>A | p.P98Q | Missense | 4/6 | - | 1 |
11-19207885-G-A | c.292C>T | p.P98S | Missense | 4/6 | - | 1 |
11-19207886-C-A | c.291G>T | p.K97N | Missense | 4/6 | - | 1 |
11-19207886-C-G | c.291G>C | p.K97N | Missense | 4/6 | - | 1 |
11-19207886-C-T | c.291G>A | p.K97= | Synonymous | 4/6 | - | 1 |
11-19207888-T-G | c.289A>C | p.K97Q | Missense | 4/6 | - | 1 |
11-19207890-G-A | c.287C>T | p.P96L | Missense | 4/6 | - | 1 |
11-19207891-G-A | c.286C>T | p.P96S | Missense | 4/6 | - | 1 |
11-19207889-TGG-T | c.286_287del | p.P96Kfs*35 | Frameshift | 4/6 | - | 1 |
11-19207892-G-C | c.285C>G | p.S95= | Synonymous | 4/6 | - | 1 |
11-19207892-G-T | c.285C>A | p.S95= | Synonymous | 4/6 | - | 2 |
11-19207893-G-A | c.284C>T | p.S95F | Missense | 4/6 | - | 1 |
11-19207894-A-C | c.283T>G | p.S95A | Missense | 4/6 | - | 2 |
11-19207894-A-G | c.283T>C | p.S95P | Missense | 4/6 | - | 2 |
11-19208070-C-A | c.282-175G>T | - | IntronicSNV | - | 3/5 | 3 |
11-19209556-C-A | c.281+127G>T | - | IntronicSNV | - | 3/5 | 1 |
11-19209682-C-T | c.281+1G>A | - | IntronicSNV | - | 3/5 | 1 |
11-19209685-T-A | c.279A>T | p.Q93H | Missense | 3/6 | - | 1 |
11-19209692-T-A | c.272A>T | p.Q91L | Missense | 3/6 | - | 3 |
11-19209693-G-C | c.271C>G | p.Q91E | Missense | 3/6 | - | 1 |
11-19209695-A-G | c.269T>C | p.L90P | Missense | 3/6 | - | 1 |
11-19209699-C-A | c.265G>T | p.G89C | Missense | 3/6 | - | 1 |
11-19209699-C-T | c.265G>A | p.G89S | Missense | 3/6 | - | 1 |
11-19209708-C-T | c.256G>A | p.E86K | Missense | 3/6 | - | 4 |
11-19209709-G-A | c.255C>T | p.G85= | Synonymous | 3/6 | - | 1 |
11-19209711-C-T | c.253G>A | p.G85S | Missense | 3/6 | - | 3 |
11-19209712-C-T | c.252G>A | p.T84= | Synonymous | 3/6 | - | 1 |
11-19209713-G-A | c.251C>T | p.T84M | Missense | 3/6 | - | 5 |
11-19209713-G-C | c.251C>G | p.T84R | Missense | 3/6 | - | 1 |
11-19209717-C-T | c.247G>A | p.D83N | Missense | 3/6 | - | 1 |
11-19209725-A-T | c.239T>A | p.L80H | Missense | 3/6 | - | 3 |
11-19209726-G-A | c.238C>T | p.L80F | Missense | 3/6 | - | 1 |
11-19209734-G-C | c.230C>G | p.A77G | Missense | 3/6 | - | 2 |
11-19209735-C-A | c.229G>T | p.A77S | Missense | 3/6 | - | 1 |
11-19209735-C-T | c.229G>A | p.A77T | Missense | 3/6 | - | 1 |
11-19209736-G-A | c.228C>T | p.G76= | Synonymous | 3/6 | - | 2 |
11-19209736-G-C | c.228C>G | p.G76= | Synonymous | 3/6 | - | 1 |
11-19209736-G-T | c.228C>A | p.G76= | Synonymous | 3/6 | - | 1 |
11-19209737-C-A | c.227G>T | p.G76V | Missense | 3/6 | - | 1 |
11-19209741-G-GT | c.222dup | p.Q75Tfs*57 | Frameshift | 3/6 | - | 1 |
11-19209744-C-T | c.220G>A | p.G74R | Missense | 3/6 | - | 4 |
11-19209747-AC-A | c.216del | p.Y73Mfs*135 | Frameshift | 3/6 | - | 1 |
11-19209750-C-G | c.214G>C | p.G72R | Missense | 3/6 | - | 2 |
11-19209750-C-T | c.214G>A | p.G72R | Missense | 3/6 | - | 3 |
11-19209751-G-A | c.213C>T | p.I71= | Synonymous | 3/6 | - | 5 |
11-19209755-C-T | c.209G>A | p.G70E | Missense | 3/6 | - | 6 |
11-19209756-C-A | c.208G>T | p.G70W | Missense | 3/6 | - | 2 |
11-19209758-T-C | c.206A>G | p.K69R | Missense | 3/6 | - | 9 |
11-19209759-T-G | c.205A>C | p.K69Q | Missense | 3/6 | - | 1 |
11-19209762-G-C | c.202C>G | p.P68A | Missense | 3/6 | - | 1 |
11-19209764-C-A | c.200G>T | p.G67V | Missense | 3/6 | - | 1 |
11-19209767-T-C | c.197A>G | p.Y66C | Missense | 3/6 | - | 7 |
11-19209770-C-A | c.194G>T | p.R65I | Missense | 3/6 | - | 1 |
11-19209772-G-A | c.192C>T | p.R64= | Synonymous | 3/6 | - | 1 |
11-19209772-G-C | c.192C>G | p.R64= | Synonymous | 3/6 | - | 1 |
11-19209772-GCG-CTT | c.190_192delinsAAG | p.R64K | Missense | 3/6 | - | 1 |
11-19209772-G-T | c.192C>A | p.R64= | Synonymous | 3/6 | - | 1 |
11-19209773-C-T | c.191G>A | p.R64H | Missense | 3/6 | - | 5 |
11-19209774-G-A | c.190C>T | p.R64C | Missense | 3/6 | - | 5 |
11-19209775-CC-GT | c.188_189delinsAC | p.G63D | Missense | 3/6 | - | 2 |
11-19209781-G-A | c.183C>T | p.C61= | Synonymous | 3/6 | - | 2 |
11-19209783-A-C | c.181T>G | p.C61G | Missense | 3/6 | - | 3 |
11-19209784-C-G | c.180G>C | p.V60= | Synonymous | 3/6 | - | 1 |
11-19209788-T-A | c.176A>T | p.K59M | Missense | 3/6 | - | 1 |
11-19209789-T-C | c.175A>G | p.K59E | Missense | 3/6 | - | 3 |
11-19209790-G-A | c.174C>T | p.C58= | Synonymous | 3/6 | - | 1 |
11-19209792-A-C | c.172T>G | p.C58G | Missense | 3/6 | - | 19 |
11-19209793-G-C | c.171C>G | p.Y57* | Nonsense | 3/6 | - | 1 |
11-19209793-G-T | c.171C>A | p.Y57* | Nonsense | 3/6 | - | 1 |
11-19209791-CAGT-C | c.170_172del | p.Y57del | InFrameDeletion | 3/6 | - | 1 |
11-19209794-T-G | c.170A>C | p.Y57S | Missense | 3/6 | - | 3 |
11-19209796-G-A | c.168C>T | p.I56= | Synonymous | 3/6 | - | 1 |
11-19209796-G-T | c.168C>A | p.I56= | Synonymous | 3/6 | - | 1 |
11-19209800-T-C | c.164A>G | p.E55G | Missense | 3/6 | - | 3 |
11-19209801-C-T | c.163G>A | p.E55K | Missense | 3/6 | - | 4 |
11-19209802-C-G | c.162G>C | p.S54= | Synonymous | 3/6 | - | 1 |
11-19209802-C-T | c.162G>A | p.S54= | Synonymous | 3/6 | - | 1 |
11-19209803-G-A | c.161C>T | p.S54L | Missense | 3/6 | - | 1 |
11-19209803-GA-CT | c.160_161delinsAG | p.S54R | Missense | 3/6 | - | 6 |
11-19209804-A-C | c.160T>G | p.S54A | Missense | 3/6 | - | 1 |
11-19209807-C-A | c.157G>T | p.E53* | Nonsense | 3/6 | - | 1 |
11-19209807-C-G | c.157G>C | p.E53Q | Missense | 3/6 | - | 3 |
11-19209811-A-C | c.153T>G | p.A51= | Synonymous | 3/6 | - | 1 |
11-19209811-A-G | c.153T>C | p.A51= | Synonymous | 3/6 | - | 1 |
11-19209811-A-T | c.153T>A | p.A51= | Synonymous | 3/6 | - | 1 |
11-19209812-G-C | c.152C>G | p.A51G | Missense | 3/6 | - | 1 |
11-19209812-G-T | c.152C>A | p.A51D | Missense | 3/6 | - | 2 |
11-19209813-C-A | c.151G>T | p.A51S | Missense | 3/6 | - | 1 |
11-19209814-CGC-AAA | c.148_150delinsTTT | p.A50F | Missense | 3/6 | - | 1 |
11-19209814-C-T | c.150G>A | p.A50= | Synonymous | 3/6 | - | 2 |
11-19209815-G-T | c.149C>A | p.A50E | Missense | 3/6 | - | 1 |
11-19209816-C-T | c.148G>A | p.A50T | Missense | 3/6 | - | 7 |
11-19209821-G-A | c.143C>T | p.T48I | Missense | 3/6 | - | 1 |
11-19209823-C-A | c.141G>T | p.T47= | Synonymous | 3/6 | - | 1 |
11-19209823-C-G | c.141G>C | p.T47= | Synonymous | 3/6 | - | 2 |
11-19209823-C-T | c.141G>A | p.T47= | Synonymous | 3/6 | - | 3 |
11-19209824-G-A | c.140C>T | p.T47M | Missense | 3/6 | - | 8 |
11-19209826-G-C | c.138C>G | p.S46R | Missense | 3/6 | - | 1 |
11-19209826-G-T | c.138C>A | p.S46R | Missense | 3/6 | - | 1 |
11-19209828-T-G | c.136A>C | p.S46R | Missense | 3/6 | - | 9 |
11-19209829-G-C | c.135C>G | p.D45E | Missense | 3/6 | - | 1 |
11-19209829-G-T | c.135C>A | p.D45E | Missense | 3/6 | - | 1 |
11-19209831-C-T | c.133G>A | p.D45N | Missense | 3/6 | - | 1 |
11-19209832-AAG-CAT | c.130_132delinsATG | p.L44M | Missense | 3/6 | - | 1 |
11-19209832-A-C | c.132T>G | p.L44= | Synonymous | 3/6 | - | 1 |
11-19209832-A-G | c.132T>C | p.L44= | Synonymous | 3/6 | - | 1 |
11-19209832-A-T | c.132T>A | p.L44= | Synonymous | 3/6 | - | 1 |
11-19209833-A-G | c.131T>C | p.L44P | Missense | 3/6 | - | 19 |
11-19209836-AG-A | c.128del | p.A43Vfs*165 | Frameshift | 3/6 | - | 1 |
11-19209837-C-T | c.127G>A | p.A43T | Missense | 3/6 | - | 1 |
11-19209840-T-TA | c.123_124insT | p.K42* | Nonsense | 3/6 | - | 2 |
11-19209843-T-C | c.121A>G | p.R41G | Missense | 3/6 | - | 1 |
11-19209846-A-G | c.118T>C | p.C40R | Missense | 3/6 | - | 2 |
11-19209849-C-G | c.115G>C | p.A39P | Missense | 3/6 | - | 1 |
11-19209849-C-T | c.115G>A | p.A39T | Missense | 3/6 | - | 1 |
11-19209943-G-A | c.113-92C>T | - | IntronicSNV | - | 2/5 | 1 |
11-19212897-CT-C | c.112+986del | - | IntronicDeletion | - | 2/5 | 1 |
11-19213023-A-G | c.112+861T>C | - | IntronicSNV | - | 2/5 | 1 |
11-19213758-A-G | c.112+126T>C | - | IntronicSNV | - | 2/5 | 1 |
11-19213883-C-T | c.112+1G>A | - | IntronicSNV | - | 2/5 | 1 |
11-19213884-T-G | c.112A>C | p.M38L | Missense | 2/6 | - | 1 |
11-19213885-G-T | c.111C>A | p.C37* | Nonsense | 2/6 | - | 2 |
11-19213887-A-G | c.109T>C | p.C37R | Missense | 2/6 | - | 1 |
11-19213890-G-A | c.106C>T | p.H36Y | Missense | 2/6 | - | 3 |
11-19213894-A-G | c.102T>C | p.C34= | Synonymous | 2/6 | - | 1 |
11-19213895-CA-GT | c.100_101delinsAC | p.C34T | Missense | 2/6 | - | 1 |
11-19213897-C-A | c.99G>T | p.T33= | Synonymous | 2/6 | - | 1 |
11-19213897-C-G | c.99G>C | p.T33= | Synonymous | 2/6 | - | 1 |
11-19213897-C-T | c.99G>A | p.T33= | Synonymous | 2/6 | - | 2 |
11-19213898-G-A | c.98C>T | p.T33M | Missense | 2/6 | - | 1 |
11-19213900-C-T | c.96G>A | p.K32= | Synonymous | 2/6 | - | 1 |
11-19213903-G-A | c.93C>T | p.H31= | Synonymous | 2/6 | - | 1 |
11-19213903-G-C | c.93C>G | p.H31Q | Missense | 2/6 | - | 1 |
11-19213909-A-G | c.87T>C | p.S29= | Synonymous | 2/6 | - | 1 |
11-19213911-T-G | c.85A>C | p.S29R | Missense | 2/6 | - | 1 |
11-19213910-C-T | c.86G>A | p.S29N | Missense | 2/6 | - | 3 |
11-19213912-C-G | c.84G>C | p.R28S | Missense | 2/6 | - | 1 |
11-19213915-T-A | c.81A>T | p.G27= | Synonymous | 2/6 | - | 1 |
11-19213915-T-C | c.81A>G | p.G27= | Synonymous | 2/6 | - | 1 |
11-19213915-T-G | c.81A>C | p.G27= | Synonymous | 2/6 | - | 1 |
11-19213919-T-C | c.77A>G | p.N26S | Missense | 2/6 | - | 1 |
11-19213920-T-C | c.76A>G | p.N26D | Missense | 2/6 | - | 1 |
11-19213922-C-A | c.74G>T | p.C25F | Missense | 2/6 | - | 1 |
11-19213922-CA-GT | c.73_74delinsAC | p.C25T | Missense | 2/6 | - | 1 |
11-19213923-A-G | c.73T>C | p.C25R | Missense | 2/6 | - | 1 |
11-19213924-C-T | c.72G>A | p.Q24= | Synonymous | 2/6 | - | 1 |
11-19213926-G-T | c.70C>A | p.Q24K | Missense | 2/6 | - | 1 |
11-19213927-G-C | c.69C>G | p.I23M | Missense | 2/6 | - | 1 |
11-19213932-C-A | c.64G>T | p.E22* | Nonsense | 2/6 | - | 3 |
11-19213932-C-T | c.64G>A | p.E22K | Missense | 2/6 | - | 1 |
11-19213933-T-A | c.63A>T | p.E21D | Missense | 2/6 | - | 1 |
11-19213933-T-G | c.63A>C | p.E21D | Missense | 2/6 | - | 1 |
11-19213935-C-T | c.61G>A | p.E21K | Missense | 2/6 | - | 1 |
11-19213942-G-T | c.54C>A | p.Y18* | Nonsense | 2/6 | - | 1 |
11-19213945-G-GAAGAAATCTGC | c.50_51insGCAGATTTCTT | p.Y18Qfs*194 | Frameshift | 2/6 | - | 1 |
11-19213946-A-T | c.50T>A | p.V17D | Missense | 2/6 | - | 1 |
11-19213947-C-T | c.49G>A | p.V17I | Missense | 2/6 | - | 2 |
11-19213948-G-A | c.48C>T | p.T16= | Synonymous | 2/6 | - | 2 |
11-19213948-G-C | c.48C>G | p.T16= | Synonymous | 2/6 | - | 2 |
11-19213948-G-T | c.48C>A | p.T16= | Synonymous | 2/6 | - | 2 |
11-19213950-T-A | c.46A>T | p.T16S | Missense | 2/6 | - | 1 |
11-19213951-C-T | c.45G>A | p.K15= | Synonymous | 2/6 | - | 1 |
11-19213952-T-C | c.44A>G | p.K15R | Missense | 2/6 | - | 1 |
11-19213954-T-A | c.42A>T | p.E14D | Missense | 2/6 | - | 2 |
11-19213954-T-G | c.42A>C | p.E14D | Missense | 2/6 | - | 2 |
11-19213958-CA-TG | c.37_38inv | p.C13H | Missense | 2/6 | - | 1 |
11-19213958-C-T | c.38G>A | p.C13Y | Missense | 2/6 | - | 1 |
11-19213960-G-A | c.36C>T | p.A12= | Synonymous | 2/6 | - | 1 |
11-19213960-GGC-TTA | c.34_36delinsTAA | p.A12* | Nonsense | 2/6 | - | 1 |
11-19213960-GGC-TTG | c.34_36delinsCAA | p.A12Q | Missense | 2/6 | - | 1 |
11-19213962-C-T | c.34G>A | p.A12T | Missense | 2/6 | - | 2 |
11-19213963-T-A | c.33A>T | p.G11= | Synonymous | 2/6 | - | 1 |
11-19213963-T-C | c.33A>G | p.G11= | Synonymous | 2/6 | - | 1 |
11-19213963-T-G | c.33A>C | p.G11= | Synonymous | 2/6 | - | 1 |
11-19213966-A-G | c.30T>C | p.C10= | Synonymous | 2/6 | - | 1 |
11-19213967-CA-TG | c.28_29inv | p.C10H | Missense | 2/6 | - | 1 |
11-19213968-A-G | c.28T>C | p.C10R | Missense | 2/6 | - | 1 |
11-19213969-T-A | c.27A>T | p.K9N | Missense | 2/6 | - | 1 |
11-19213969-T-G | c.27A>C | p.K9N | Missense | 2/6 | - | 2 |
11-19213970-T-G | c.26A>C | p.K9T | Missense | 2/6 | - | 2 |
11-19213973-G-T | c.23C>A | p.A8E | Missense | 2/6 | - | 2 |
11-19213974-C-T | c.22G>A | p.A8T | Missense | 2/6 | - | 1 |
11-19213977-C-T | c.19G>A | p.G7S | Missense | 2/6 | - | 1 |
11-19213979-C-T | c.17G>A | p.G6E | Missense | 2/6 | - | 1 |
11-19213980-C-T | c.16G>A | p.G6R | Missense | 2/6 | - | 8 |
11-19213981-G-A | c.15C>T | p.G5= | Synonymous | 2/6 | - | 1 |
11-19213983-C-T | c.13G>A | p.G5S | Missense | 2/6 | - | 1 |
11-19213981-G-GC | c.14dup | p.G6Rfs*9 | Frameshift | 2/6 | - | 1 |
11-19213986-A-G | c.10T>C | p.W4R | Missense | 2/6 | - | 23 |
11-19213986-A-T | c.10T>A | p.W4R | Missense | 2/6 | - | 2 |
11-19213991-G-A | c.5C>T | p.P2L | Missense | 2/6 | - | 1 |
11-19213992-G-A | c.4C>T | p.P2S | Missense | 2/6 | - | 1 |
11-19217838-G-A | c.-28-3815C>T | - | IntronicSNV | - | 1/5 | 1 |
11-19217838-G-C | c.-28-3815C>G | - | IntronicSNV | - | 1/5 | 1 |
11-19223143-G-T | c.-29+358C>A | - | intron_variant | - | 1/5 | 1 |