| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101421899G>A | CA5161401 | ALDOB | c.1005C>T (p.Asn335=) c.*17C>T (n.*17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421899G>C | CA339812 | ALDOB | c.1005C>G (p.Asn335Lys) c.*17C>G (n.*17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101421899G= | CA1868275754 | ALDOB | c.1005C= (p.Asn335=) c.*17C= (n.*17C=) | dbSNP |