| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43169126G>C | CA410603977 | CRYAA | c.27G>C (p.Trp9Cys) n.40G>C n.647+1911C>G | dbSNP gnomAD v4 |
| 21 | g.43169126G>A | CA127000 | CRYAA | c.27G>A (p.Trp9Ter) n.40G>A n.647+1911C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.43169126G= | CA2391130689 | CRYAA | c.27G= (p.Trp9=) n.40G= n.647+1911C= | dbSNP |