Variant Information
Gene | Interpretation | ||||
---|---|---|---|---|---|
TP53 | chr17:7579358 | chr17:7676040 | c.329G>T | p.R110L | Pathogenic |
TP53 | chr17:7579349 | chr17:7676031 | c.338T>G | p.F113C | Pathogenic |
TP53 | chr17:7578466 | chr17:7675148 | c.464C>T | p.T155I | Pathogenic |
TP53 | chr17:7578407 | chr17:7675089 | c.523C>G | p.R175G | Pathogenic |
TP53 | chr17:7578406 | chr17:7675088 | c.524G>A | p.R175H | Pathogenic |
TP53 | chr17:7578212 | chr17:7675086 | c.526T>A | p.C176S | Pathogenic |
TP53 | chr17:7578396 | chr17:7675078 | c.534C>G | p.H178Q | Pathogenic |
TP53 | chr17:7578393 | chr17:7675075 | c.537T>A | p.H179Q | Pathogenic |
TP53 | chr17:7578271 | chr17:7674953 | c.577dupC | p.H193Pfs*16 | Pathogenic |
TP53 | chr17:7578259 | chr17:7674941 | c.590T>G | p.V197G | Pathogenic |
TP53 | chr17:7578235 | chr17:7674917 | c.614A>G | p.Y205C | Pathogenic |
TP53 | chr17:7578212 | chr17:7674894 | c.637C>T | p.R213* | Pathogenic |
TP53 | chr17:7578206 | chr17:7674888 | c.643A>G | p.S215G | Pathogenic |
TP53 | chr17:7578190 | chr17:7674872 | c.659A>G | p.Y220C | Pathogenic |
TP53 | chr17:7577568 | chr17:7674250 | c.713G>A | p.C238Y | Pathogenic |
TP53 | chr17:7577551 | chr17:7674247 | c.716A>G | p.N239S | Pathogenic |
TP53 | chr17:7577551 | chr17:7674233 | c.730G>C | p.G244R | Pathogenic |
TP53 | chr17:7577548 | chr17:7674230 | c.733G>C | p.G245R | Pathogenic |
TP53 | chr17:7577539 | chr17:7674221 | c.742C>T | p.R248W | Pathogenic |
TP53 | chr17:7577144 | chr17:7673826 | c.794T>C | p.L265P | Pathogenic |
TP53 | chr17:7577099 | chr17:7673824 | c.796G>A | p.G266R | Pathogenic |
TP53 | chr17:7577124 | chr17:7673806 | c.814G>A | p.V272M | Pathogenic |
TP53 | chr17:7577121 | chr17:7673803 | c.817C>T | p.R273C | Pathogenic |
TP53 | chr17:7577099 | chr17:7673781 | c.839G>C | p.R280T | Pathogenic |
TP53 | chr17:7577094 | chr17:7673776 | c.844C>T | p.R282W | Pathogenic |
TP53 | chr17:7577022 | chr17:7673704 | c.916C>T | p.R306* | Pathogenic |