| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.61088482C>T | CA10588299 | NFIA | c.361C>T (p.Arg121Cys) c.337C>T (p.Arg113Cys) n.334C>T c.*453C>T (n.*453C>T) c.496C>T (p.Arg166Cys) c.430C>T (p.Arg144Cys) c.220C>T (p.Arg74Cys) n.149+6567C>T c.71C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 1 | g.61088482C= | CA1170525743 | NFIA | c.361C= (p.Arg121=) c.337C= (p.Arg113=) n.334C= c.*453C= (n.*453C=) c.496C= (p.Arg166=) c.430C= (p.Arg144=) c.220C= (p.Arg74=) n.149+6567C= c.71C= | dbSNP |