| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80113028G>T | CA16041898 | GAA | c.2040+1G>T (n.2040+1G>T) c.*178+1G>T (n.*178+1G>T) n.480+1G>T c.459+1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80113028G>C | CA401370207 | GAA | c.2040+1G>C (n.2040+1G>C) c.*178+1G>C (n.*178+1G>C) n.480+1G>C c.459+1G>C | ClinVar dbSNP |