| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.121310819G>T | CA250654 | GSN | c.559G>T (p.Asp187Tyr) c.520G>T (p.Asp174Tyr) c.487G>T (p.Asp163Tyr) c.595G>T (p.Asp199Tyr) c.640G>T (p.Asp214Tyr) c.538G>T (p.Asp180Tyr) n.660G>T n.553G>T n.613-7916G>T n.2449G>T c.511G>T (p.Asp171Tyr) c.550G>T (p.Asp184Tyr) c.679G>T (p.Asp227Tyr) c.634G>T (p.Asp212Tyr) c.577G>T (p.Asp193Tyr) c.-168G>T (n.-168G>T) n.672G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.121310819G>A | CA250652 | GSN | c.559G>A (p.Asp187Asn) c.520G>A (p.Asp174Asn) c.487G>A (p.Asp163Asn) c.595G>A (p.Asp199Asn) c.640G>A (p.Asp214Asn) c.538G>A (p.Asp180Asn) n.660G>A n.553G>A n.613-7916G>A n.2449G>A c.511G>A (p.Asp171Asn) c.550G>A (p.Asp184Asn) c.679G>A (p.Asp227Asn) c.634G>A (p.Asp212Asn) c.577G>A (p.Asp193Asn) c.-168G>A (n.-168G>A) n.672G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |