| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.35910427C>A | CA359429864 | CAPSL | c.254G>T (p.Arg85Leu) c.305G>T (p.Arg102Leu) | dbSNP |
| 5 | g.35910427C>T | CA3232388 | CAPSL | c.254G>A (p.Arg85Gln) c.305G>A (p.Arg102Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.35910427C>G | CA359429872 | CAPSL | c.254G>C (p.Arg85Pro) c.305G>C (p.Arg102Pro) | dbSNP |
| 5 | g.35910427C= | CA1539096522 | CAPSL | c.254G= (p.Arg85=) c.305G= (p.Arg102=) | dbSNP |