| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38324807C>A | CA391932377 | SPRED1 | c.421C>A (p.Gln141Lys) n.759C>A c.358C>A (p.Gln120Lys) c.457C>A (p.Gln153Lys) c.199C>A (p.Gln67Lys) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38324807C>T | CA16614586 | SPRED1 | c.421C>T (p.Gln141Ter) n.759C>T c.358C>T (p.Gln120Ter) c.457C>T (p.Gln153Ter) c.199C>T (p.Gln67Ter) | ClinVar dbSNP gnomAD v2 |