| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44065262G>A | CA114261 | DBNL,PGAM2 | c.268C>T (p.Arg90Trp) c.*4346G>A (n.*4346G>A) c.5424G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44065262G>T | CA454860890 | DBNL,PGAM2 | c.268C>A (p.Arg90=) c.*4346G>T (n.*4346G>T) c.5424G>T | dbSNP gnomAD v4 |
| 7 | g.44065262G= | CA1703605815 | DBNL,PGAM2 | c.268C= (p.Arg90=) c.*4346G= (n.*4346G=) c.5424G= | dbSNP |