| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7670699C>G | CA000014 | TP53 | c.1010G>C (p.Arg337Pro) c.614G>C (p.Arg205Pro) c.731G>C (p.Arg244Pro) c.989G>C (p.Arg330Pro) c.993+2836G>C (n.993+2836G>C) c.782+3482G>C (n.782+3482G>C) c.*117G>C (n.*117G>C) c.*29G>C (n.*29G>C) c.54-1009G>C c.893G>C (p.Arg298Pro) c.977G>C (p.Arg326Pro) c.533G>C (p.Arg178Pro) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670699C>A | CA000015 | TP53 | c.1010G>T (p.Arg337Leu) c.614G>T (p.Arg205Leu) c.731G>T (p.Arg244Leu) c.989G>T (p.Arg330Leu) c.993+2836G>T (n.993+2836G>T) c.782+3482G>T (n.782+3482G>T) c.*117G>T (n.*117G>T) c.*29G>T (n.*29G>T) c.54-1009G>T c.893G>T (p.Arg298Leu) c.977G>T (p.Arg326Leu) c.533G>T (p.Arg178Leu) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670699C>T | CA000013 | TP53 | c.1010G>A (p.Arg337His) c.614G>A (p.Arg205His) c.731G>A (p.Arg244His) c.989G>A (p.Arg330His) c.993+2836G>A (n.993+2836G>A) c.782+3482G>A (n.782+3482G>A) c.*117G>A (n.*117G>A) c.*29G>A (n.*29G>A) c.54-1009G>A c.893G>A (p.Arg298His) c.977G>A (p.Arg326His) c.533G>A (p.Arg178His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |