| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7670684C>T | CA000835 | TP53 | c.1025G>A (p.Arg342Gln) c.629G>A (p.Arg210Gln) c.746G>A (p.Arg249Gln) c.1004G>A (p.Arg335Gln) c.993+2851G>A (n.993+2851G>A) c.782+3497G>A (n.782+3497G>A) c.*132G>A (n.*132G>A) c.*44G>A (n.*44G>A) c.54-994G>A c.908G>A (p.Arg303Gln) c.992G>A (p.Arg331Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7670684C>A | CA397832566 | TP53 | c.1025G>T (p.Arg342Leu) c.629G>T (p.Arg210Leu) c.746G>T (p.Arg249Leu) c.1004G>T (p.Arg335Leu) c.993+2851G>T (n.993+2851G>T) c.782+3497G>T (n.782+3497G>T) c.*132G>T (n.*132G>T) c.*44G>T (n.*44G>T) c.54-994G>T c.908G>T (p.Arg303Leu) c.992G>T (p.Arg331Leu) c.548G>T (p.Arg183Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670684C>G | CA337802 | TP53 | c.1025G>C (p.Arg342Pro) c.629G>C (p.Arg210Pro) c.746G>C (p.Arg249Pro) c.1004G>C (p.Arg335Pro) c.993+2851G>C (n.993+2851G>C) c.782+3497G>C (n.782+3497G>C) c.*132G>C (n.*132G>C) c.*44G>C (n.*44G>C) c.54-994G>C c.908G>C (p.Arg303Pro) c.992G>C (p.Arg331Pro) c.548G>C (p.Arg183Pro) | ClinVar dbSNP COSMIC COSMIC |