| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17309480G>A | CA2325793788 | ABHD8 | c.40+687C>T (n.40+687C>T) | dbSNP gnomAD v4 |
| 19 | g.17309480G>C | CA306038864 | ABHD8 | c.40+687C>G (n.40+687C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17309480G>T | CA14698537 | ABHD8 | c.40+687C>A (n.40+687C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |