| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31362783G>C | CA11062345 | XDH | c.2631+1375C>G (n.2631+1375C>G) c.2628+1375C>G (n.2628+1375C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.31362783G= | CA1242113914 | XDH | c.2631+1375C= (n.2631+1375C=) c.2628+1375C= (n.2628+1375C=) | dbSNP |