| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80117606G>A | CA145769 | GAA | c.2338G>A (p.Val780Ile) c.*476G>A (n.*476G>A) n.291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80117606G>C | CA401324977 | GAA | c.2338G>C (p.Val780Leu) c.*476G>C (n.*476G>C) n.291G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.80117606G>T | CA8815715 | GAA | c.2338G>T (p.Val780Leu) c.*476G>T (n.*476G>T) n.291G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |