| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.36098318G>T | CA127106 | COL8A2 | c.1363C>A (p.Gln455Lys) c.1168C>A (p.Gln390Lys) c.773-238C>A (n.773-238C>A) c.1594C>A (p.Gln532Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.36098318G= | CA1141187673 | COL8A2 | c.1363C= (p.Gln455=) c.1168C= (p.Gln390=) c.773-238C= (n.773-238C=) c.1594C= (p.Gln532=) | dbSNP |