| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7673806C>T | CA000427 | TP53 | c.814G>A (p.Val272Met) c.418G>A (p.Val140Met) c.535G>A (p.Val179Met) c.793G>A (p.Val265Met) c.782+375G>A (n.782+375G>A) c.697G>A (p.Val233Met) c.337G>A (p.Val113Met) c.781G>A (p.Val261Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673806C>G | CA397837009 | TP53 | c.814G>C (p.Val272Leu) c.418G>C (p.Val140Leu) c.535G>C (p.Val179Leu) c.793G>C (p.Val265Leu) c.782+375G>C (n.782+375G>C) c.697G>C (p.Val233Leu) c.337G>C (p.Val113Leu) c.781G>C (p.Val261Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673806C>A | CA000430 | TP53 | c.814G>T (p.Val272Leu) c.418G>T (p.Val140Leu) c.535G>T (p.Val179Leu) c.793G>T (p.Val265Leu) c.782+375G>T (n.782+375G>T) c.697G>T (p.Val233Leu) c.337G>T (p.Val113Leu) c.781G>T (p.Val261Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673806C= | CA2245949941 | TP53 | c.814G= (p.Val272=) c.418G= (p.Val140=) c.535G= (p.Val179=) c.793G= (p.Val265=) c.782+375G= (n.782+375G=) c.697G= (p.Val233=) c.337G= (p.Val113=) c.781G= (p.Val261=) | dbSNP |