| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.65368452G>T | CA49358725 | SPRED2 | c.27-23556C>A (n.27-23556C>A) c.71+9161C>A (n.71+9161C>A) | dbSNP |
| 2 | g.65368452G>A | CA15180872 | SPRED2 | c.27-23556C>T (n.27-23556C>T) c.71+9161C>T (n.71+9161C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.65368452G>C | CA1257209377 | SPRED2 | c.27-23556C>G (n.27-23556C>G) c.71+9161C>G (n.71+9161C>G) | dbSNP |