| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232481123C>T | CA174029 | ECEL1 | c.2023G>A (p.Ala675Thr) c.2017G>A (p.Ala673Thr) c.235-310G>A (n.235-310G>A) n.2334G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232481123C>A | CA2166987 | ECEL1 | c.2023G>T (p.Ala675Ser) c.2017G>T (p.Ala673Ser) c.235-310G>T (n.235-310G>T) n.2334G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |