| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.93830534C>T | CA117584 | GPC6,GPC6-AS2 | c.700C>T (p.Arg234Ter) n.380+282G>A c.490C>T (p.Arg164Ter) c.334C>T (p.Arg112Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.93830534C= | CA2111541795 | GPC6,GPC6-AS2 | c.700C= (p.Arg234=) n.380+282G= c.490C= (p.Arg164=) c.334C= (p.Arg112=) | dbSNP |