| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232486650C>G | CA351005022 | ECEL1 | c.4G>C (p.Glu2Gln) n.208G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232486650C>A | CA16042394 | ECEL1 | c.4G>T (p.Glu2Ter) n.208G>T | ClinVar dbSNP gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232486650C>G | CA351005022 | ECEL1 | c.4G>C (p.Glu2Gln) n.208G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232486650C>A | CA16042394 | ECEL1 | c.4G>T (p.Glu2Ter) n.208G>T | ClinVar dbSNP gnomAD v4 |