| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7673728C>T | CA000483 | TP53 | c.892G>A (p.Glu298Lys) c.496G>A (p.Glu166Lys) c.613G>A (p.Glu205Lys) c.871G>A (p.Glu291Lys) c.782+453G>A (n.782+453G>A) c.775G>A (p.Glu259Lys) c.415G>A (p.Glu139Lys) c.859G>A (p.Glu287Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673728C>A | CA000484 | TP53 | c.892G>T (p.Glu298Ter) c.496G>T (p.Glu166Ter) c.613G>T (p.Glu205Ter) c.871G>T (p.Glu291Ter) c.782+453G>T (n.782+453G>T) c.775G>T (p.Glu259Ter) c.415G>T (p.Glu139Ter) c.859G>T (p.Glu287Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673728C>G | CA397836431 | TP53 | c.892G>C (p.Glu298Gln) c.496G>C (p.Glu166Gln) c.613G>C (p.Glu205Gln) c.871G>C (p.Glu291Gln) c.782+453G>C (n.782+453G>C) c.775G>C (p.Glu259Gln) c.415G>C (p.Glu139Gln) c.859G>C (p.Glu287Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |