| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52038229G>C | CA2918525 | SGCB | c.31C>G (p.Gln11Glu) c.17C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52038229G>A | CA10604818 | SGCB | c.31C>T (p.Gln11Ter) c.17C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52038229G= | CA1457434174 | SGCB | c.31C= (p.Gln11=) c.17C= | dbSNP |