| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725897G>A | CA090909 | F2 | c.598G>A (p.Glu200Lys) c.568G>A (p.Glu190Lys) n.378G>A c.550G>A (p.Glu184Lys) n.642G>A n.633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725897G= | CA1969071952 | F2 | c.598G= (p.Glu200=) c.568G= (p.Glu190=) n.378G= c.550G= (p.Glu184=) n.642G= n.633G= | dbSNP |