| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.25082047A>G | CA117359 | VSX1 | c.50T>C (p.Leu17Pro) n.333T>C n.95T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25082047A>T | CA408437571 | VSX1 | c.50T>A (p.Leu17Gln) n.333T>A n.95T>A | dbSNP gnomAD v4 |
| 20 | g.25082047A= | CA2356697904 | VSX1 | c.50T= (p.Leu17=) n.333T= n.95T= | dbSNP |