| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31367919C>G | CA1598918 | XDH | c.2197+42G>C (n.2197+42G>C) c.2194+42G>C (n.2194+42G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.31367919C>T | CA1242116314 | XDH | c.2197+42G>A (n.2197+42G>A) c.2194+42G>A (n.2194+42G>A) | dbSNP gnomAD v4 |
| 2 | g.31367919C= | CA1242116313 | XDH | c.2197+42G= (n.2197+42G=) c.2194+42G= (n.2194+42G=) | dbSNP |