Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.244054357C>A | CA424410700 | ZBTB18 | c.556C>A (p.Arg186=) c.*513C>A (n.*513C>A) c.583C>A (p.Arg195=) | dbSNP gnomAD v2 |
1 | g.244054357C>T | CA16616859 | ZBTB18 | c.556C>T (p.Arg186Ter) c.*513C>T (n.*513C>T) c.583C>T (p.Arg195Ter) | ClinVar dbSNP COSMIC COSMIC |