| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47442780G>C | CA5976702 | RAPSN | c.566C>G (p.Ala189Gly) c.532-859C>G (n.532-859C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47442780G>A | CA119260 | RAPSN | c.566C>T (p.Ala189Val) c.532-859C>T (n.532-859C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47442780G= | CA1969388111 | RAPSN | c.566C= (p.Ala189=) c.532-859C= (n.532-859C=) | dbSNP |