Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44951952T>C | CA114715 | SETBP1 | c.2612T>C (p.Ile871Thr) c.2690T>C (p.Ile897Thr) c.2135T>C (p.Ile712Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951952T>G | CA402321823 | SETBP1 | c.2612T>G (p.Ile871Ser) c.2690T>G (p.Ile897Ser) c.2135T>G (p.Ile712Ser) | ClinVar dbSNP |