| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33114550C>A | CA204553 | CRTAP | c.471+2C>A (n.471+2C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33114550C>G | CA205864 | CRTAP | c.471+2C>G (n.471+2C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33114550C>T | CA352008924 | CRTAP | c.471+2C>T (n.471+2C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |