| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52029766G>A | CA202230 | SGCB | c.341C>T (p.Ser114Phe) c.424C>T c.418C>T (n.418C>T) c.44C>T (p.Ser15Phe) c.131C>T (p.Ser44Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52029766G= | CA1457429990 | SGCB | c.341C= (p.Ser114=) c.424C= c.418C= (n.418C=) c.44C= (p.Ser15=) c.131C= (p.Ser44=) | dbSNP |