Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
6-45284989-A-G | SUPT3H | c.101+47949T>C | - | IntronicSNV | - | 2/10 |
20-32273920-G-C | E2F1 | c.151C>G | p.P51A | Missense | 1/7 | - |
17-7578210-T-C | TP53 | c.639A>G | p.R213= | Synonymous | 6/11 | - |
17-7578210-T-A | TP53 | c.639A>T | p.R213= | Synonymous | 6/11 | - |
17-7578393-A-T | TP53 | c.537T>A | p.H179Q | Missense | 5/11 | - |
17-7578268-A-C | TP53 | c.581T>G | p.L194R | Missense | 6/11 | - |
17-7577581-A-G | TP53 | c.700T>C | p.Y234H | Missense | 7/11 | - |
17-7577077-C-G | TP53 | c.861G>C | p.E287D | Missense | 8/11 | - |
17-7578406-C-G | TP53 | c.524G>C | p.R175P | Missense | 5/11 | - |
17-7578206-T-C | TP53 | c.643A>G | p.S215G | Missense | 6/11 | - |
17-7578454-G-T | TP53 | c.476C>A | p.A159D | Missense | 5/11 | - |
17-7578449-C-T | TP53 | c.481G>A | p.A161T | Missense | 5/11 | - |
17-7578553-T-C | TP53 | c.377A>G | p.Y126C | Missense | 5/11 | - |
17-7579366-G-T | TP53 | c.321C>A | p.Y107* | Nonsense | 4/11 | - |
17-7578406-C-A | TP53 | c.524G>T | p.R175L | Missense | 5/11 | - |
17-7578404-A-C | TP53 | c.526T>G | p.C176G | Missense | 5/11 | - |
17-7578450-C-T | TP53 | c.480G>A | p.M160I | Missense | 5/11 | - |
17-7577115-A-C | TP53 | c.823T>G | p.C275G | Missense | 8/11 | - |
17-7579366-G-A | TP53 | c.321C>T | p.Y107= | Synonymous | 4/11 | - |
17-7578460-GAC-G | TP53 | c.469_470delGT | p.V157Pfs*23 | Frameshift | 5/11 | - |
17-7579366-G-C | TP53 | c.321C>G | p.Y107* | Nonsense | 4/11 | - |
17-7578413-C-G | TP53 | c.517G>C | p.V173L | Missense | 5/11 | - |
17-7577077-C-T | TP53 | c.861G>A | p.E287= | Synonymous | 8/11 | - |
17-7578212-G-T | TP53 | c.637C>A | p.R213= | Synonymous | 6/11 | - |
17-7578210-T-G | TP53 | c.639A>C | p.R213= | Synonymous | 6/11 | - |