| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.110434983T>A | CA1872040508 | SVEP1 | c.4888+258A>T (n.4888+258A>T) c.4897+258A>T (n.4897+258A>T) | dbSNP |
| 9 | g.110434983T>C | CA12967692 | SVEP1 | c.4888+258A>G (n.4888+258A>G) c.4897+258A>G (n.4897+258A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |