| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155293177C>A | CA342751498 | PKLR | c.1436G>T (p.Arg479Leu) c.1343G>T (p.Arg448Leu) c.1595G>T (p.Arg532Leu) c.1244G>T (p.Arg415Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155293177C>T | CA215078 | PKLR | c.1436G>A (p.Arg479His) c.1343G>A (p.Arg448His) c.1595G>A (p.Arg532His) c.1244G>A (p.Arg415His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |