| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47448832C>A | CA221723367 | RAPSN | c.133G>T (p.Val45Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47448832C>T | CA119257 | RAPSN | c.133G>A (p.Val45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448832C>G | CA221723373 | RAPSN | c.133G>C (p.Val45Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |