| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351302C>G | CA391933662 | SPRED1 | c.973C>G (p.Arg325Gly) c.1009C>G (p.Arg337Gly) c.751C>G (p.Arg251Gly) c.910C>G (p.Arg304Gly) | ClinVar dbSNP |
| 15 | g.38351302C>T | CA16043687 | SPRED1 | c.973C>T (p.Arg325Ter) c.1009C>T (p.Arg337Ter) c.751C>T (p.Arg251Ter) c.910C>T (p.Arg304Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351302C= | CA2170812655 | SPRED1 | c.973C= (p.Arg325=) c.1009C= (p.Arg337=) c.751C= (p.Arg251=) c.910C= (p.Arg304=) | dbSNP |