| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45989112G>A | CA10605117 | COL6A1 | c.833G>A (p.Gly278Glu) | ClinVar dbSNP |
| 21 | g.45989112G>C | CA410521523 | COL6A1 | c.833G>C (p.Gly278Ala) | dbSNP gnomAD v2 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45989112G>A | CA10605117 | COL6A1 | c.833G>A (p.Gly278Glu) | ClinVar dbSNP |
| 21 | g.45989112G>C | CA410521523 | COL6A1 | c.833G>C (p.Gly278Ala) | dbSNP gnomAD v2 gnomAD v4 |