| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7670678A>G | CA000021 | TP53 | c.1031T>C (p.Leu344Pro) c.635T>C (p.Leu212Pro) c.752T>C (p.Leu251Pro) c.1010T>C (p.Leu337Pro) c.993+2857T>C (n.993+2857T>C) c.782+3503T>C (n.782+3503T>C) c.*138T>C (n.*138T>C) c.*50T>C (n.*50T>C) c.54-988T>C c.914T>C (p.Leu305Pro) c.998T>C (p.Leu333Pro) c.554T>C (p.Leu185Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.7670678A>T | CA397832505 | TP53 | c.1031T>A (p.Leu344Gln) c.635T>A (p.Leu212Gln) c.752T>A (p.Leu251Gln) c.1010T>A (p.Leu337Gln) c.993+2857T>A (n.993+2857T>A) c.782+3503T>A (n.782+3503T>A) c.*138T>A (n.*138T>A) c.*50T>A (n.*50T>A) c.54-988T>A c.914T>A (p.Leu305Gln) c.998T>A (p.Leu333Gln) c.554T>A (p.Leu185Gln) | dbSNP |
| 17 | g.7670678A= | CA2245942844 | TP53 | c.1031T= (p.Leu344=) c.635T= (p.Leu212=) c.752T= (p.Leu251=) c.1010T= (p.Leu337=) c.993+2857T= (n.993+2857T=) c.782+3503T= (n.782+3503T=) c.*138T= (n.*138T=) c.*50T= (n.*50T=) c.54-988T= c.914T= (p.Leu305=) c.998T= (p.Leu333=) c.554T= (p.Leu185=) | dbSNP |
| 17 | g.7670678A>C | CA397832502 | TP53 | c.1031T>G (p.Leu344Arg) c.635T>G (p.Leu212Arg) c.752T>G (p.Leu251Arg) c.1010T>G (p.Leu337Arg) c.993+2857T>G (n.993+2857T>G) c.782+3503T>G (n.782+3503T>G) c.*138T>G (n.*138T>G) c.*50T>G (n.*50T>G) c.54-988T>G c.914T>G (p.Leu305Arg) c.998T>G (p.Leu333Arg) c.554T>G (p.Leu185Arg) | ClinVar dbSNP COSMIC COSMIC |