| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38349482C>G | CA7470145 | SPRED1 | c.643C>G (p.Gln215Glu) c.679C>G (p.Gln227Glu) c.421C>G (p.Gln141Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38349482C>T | CA251953 | SPRED1 | c.643C>T (p.Gln215Ter) c.679C>T (p.Gln227Ter) c.421C>T (p.Gln141Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP |