| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91620369A>C | CA2155049567 | CATSPERB | c.2260+1239T>G (n.2260+1239T>G) c.945+1239T>G (n.945+1239T>G) | dbSNP |
| 14 | g.91620369A>G | CA15821740 | CATSPERB | c.2260+1239T>C (n.2260+1239T>C) c.945+1239T>C (n.945+1239T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91620369A>T | CA2155049568 | CATSPERB | c.2260+1239T>A (n.2260+1239T>A) c.945+1239T>A (n.945+1239T>A) | dbSNP |