| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47441716G>A | CA5976619 | RAPSN | c.807C>T (p.Tyr269=) c.789+107C>T (n.789+107C>T) c.648C>T (p.Tyr216=) n.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.47441716G>T | CA119253 | RAPSN | c.807C>A (p.Tyr269Ter) c.789+107C>A (n.789+107C>A) c.648C>A (p.Tyr216Ter) n.16C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |