| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44065297C>A | CA367369531 | DBNL,PGAM2 | c.233G>T (p.Trp78Leu) c.*4381C>A (n.*4381C>A) c.5459C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44065297C>G | CA4236645 | DBNL,PGAM2 | c.233G>C (p.Trp78Ser) c.*4381C>G (n.*4381C>G) c.5459C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44065297C>T | CA114258 | DBNL,PGAM2 | c.233G>A (p.Trp78Ter) c.*4381C>T (n.*4381C>T) c.5459C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |