| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.101472713C>T | CA12617381 | COL26A1 | c.385+24926C>T (n.385+24926C>T) c.379+24926C>T (n.379+24926C>T) c.-6+24926C>T (n.-6+24926C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.101472713C= | CA1729841513 | COL26A1 | c.385+24926C= (n.385+24926C=) c.379+24926C= (n.379+24926C=) c.-6+24926C= (n.-6+24926C=) | dbSNP |