| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.36098332A>G | CA764960 | COL8A2 | c.1349T>C (p.Leu450Ser) c.1154T>C (p.Leu385Ser) c.773-252T>C (n.773-252T>C) c.1580T>C (p.Leu527Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.36098332A>C | CA127107 | COL8A2 | c.1349T>G (p.Leu450Trp) c.1154T>G (p.Leu385Trp) c.773-252T>G (n.773-252T>G) c.1580T>G (p.Leu527Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.36098332A= | CA1141187674 | COL8A2 | c.1349T= (p.Leu450=) c.1154T= (p.Leu385=) c.773-252T= (n.773-252T=) c.1580T= (p.Leu527=) | dbSNP |