| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7673790C>A | CA001518 | TP53 | c.830G>T (p.Cys277Phe) c.434G>T (p.Cys145Phe) c.551G>T (p.Cys184Phe) c.809G>T (p.Cys270Phe) c.782+391G>T (n.782+391G>T) c.713G>T (p.Cys238Phe) c.353G>T (p.Cys118Phe) c.797G>T (p.Cys266Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673790C>G | CA397836903 | TP53 | c.830G>C (p.Cys277Ser) c.434G>C (p.Cys145Ser) c.551G>C (p.Cys184Ser) c.809G>C (p.Cys270Ser) c.782+391G>C (n.782+391G>C) c.713G>C (p.Cys238Ser) c.353G>C (p.Cys118Ser) c.797G>C (p.Cys266Ser) | ClinVar dbSNP COSMIC |
| 17 | g.7673790C>T | CA000438 | TP53 | c.830G>A (p.Cys277Tyr) c.434G>A (p.Cys145Tyr) c.551G>A (p.Cys184Tyr) c.809G>A (p.Cys270Tyr) c.782+391G>A (n.782+391G>A) c.713G>A (p.Cys238Tyr) c.353G>A (p.Cys118Tyr) c.797G>A (p.Cys266Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673790C= | CA2245949689 | TP53 | c.830G= (p.Cys277=) c.434G= (p.Cys145=) c.551G= (p.Cys184=) c.809G= (p.Cys270=) c.782+391G= (n.782+391G=) c.713G= (p.Cys238=) c.353G= (p.Cys118=) c.797G= (p.Cys266=) | dbSNP |