| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.25207069G>A | CA10157828 | CRYBB3 | c.493G>A (p.Gly165Ser) c.*8G>A (n.*8G>A) c.661G>A (p.Gly221Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.25207069G>C | CA278142 | CRYBB3 | c.493G>C (p.Gly165Arg) c.*8G>C (n.*8G>C) c.661G>C (p.Gly221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.25207069G= | CA2398626884 | CRYBB3 | c.493G= (p.Gly165=) c.*8G= (n.*8G=) c.661G= (p.Gly221=) | dbSNP |