| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.6632696G>A | CA359130427 | NSUN2 | c.157C>T (p.Gln53Ter) n.538C>T n.222C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.6632696G>C | CA359130428 | NSUN2 | c.157C>G (p.Gln53Glu) n.538C>G n.222C>G | dbSNP gnomAD v2 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.6632696G>A | CA359130427 | NSUN2 | c.157C>T (p.Gln53Ter) n.538C>T n.222C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.6632696G>C | CA359130428 | NSUN2 | c.157C>G (p.Gln53Glu) n.538C>G n.222C>G | dbSNP gnomAD v2 gnomAD v4 |