| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.130597896G>A | CA281555 | CFC1 | c.334C>T (p.Arg112Cys) c.248-293C>T (n.248-293C>T) c.247+746C>T (n.247+746C>T) | ClinVar dbSNP |
| 2 | g.130597896G= | CA1288366063 | CFC1 | c.334C= (p.Arg112=) c.248-293C= (n.248-293C=) c.247+746C= (n.247+746C=) | dbSNP |