Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7673745T>G | CA397836542 | TP53 | c.875A>C (p.Lys292Thr) c.479A>C (p.Lys160Thr) c.596A>C (p.Lys199Thr) c.854A>C (p.Lys285Thr) c.782+436A>C (n.782+436A>C) c.758A>C (p.Lys253Thr) c.398A>C (p.Lys133Thr) c.842A>C (p.Lys281Thr) | ClinVar dbSNP COSMIC |
17 | g.7673745T>C | CA16615993 | TP53 | c.875A>G (p.Lys292Arg) c.479A>G (p.Lys160Arg) c.596A>G (p.Lys199Arg) c.854A>G (p.Lys285Arg) c.782+436A>G (n.782+436A>G) c.758A>G (p.Lys253Arg) c.398A>G (p.Lys133Arg) c.842A>G (p.Lys281Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.7673745T>A | CA000469 | TP53 | c.875A>T (p.Lys292Ile) c.479A>T (p.Lys160Ile) c.596A>T (p.Lys199Ile) c.854A>T (p.Lys285Ile) c.782+436A>T (n.782+436A>T) c.758A>T (p.Lys253Ile) c.398A>T (p.Lys133Ile) c.842A>T (p.Lys281Ile) | ClinVar dbSNP |