| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47285034G>C | CA380339043 | MADD | c.2047G>C (p.Val683Leu) c.2251G>C (p.Val751Leu) n.89G>C c.376G>C (p.Val126Leu) c.292G>C (p.Val98Leu) n.2466G>C c.2227G>C (p.Val743Leu) c.1585G>C (p.Val529Leu) n.2453G>C n.2303G>C n.2429G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47285034G>A | CA5974392 | MADD | c.2047G>A (p.Val683Met) c.2251G>A (p.Val751Met) n.89G>A c.376G>A (p.Val126Met) c.292G>A (p.Val98Met) n.2466G>A c.2227G>A (p.Val743Met) c.1585G>A (p.Val529Met) n.2453G>A n.2303G>A n.2429G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |