| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101424931C>G | CA5161433 | ALDOB | c.911G>C (p.Arg304Pro) c.904+7G>C (n.904+7G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424931C>T | CA5161432 | ALDOB | c.911G>A (p.Arg304Gln) c.904+7G>A (n.904+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101424931C= | CA1868278579 | ALDOB | c.911G= (p.Arg304=) c.904+7G= (n.904+7G=) | dbSNP |