| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.94027795del | CA278860 | GPC6 | c.778del (p.Leu260PhefsTer4) c.568del (p.Leu190PhefsTer4) c.412del (p.Leu138PhefsTer4) | ClinVar dbSNP |
| 13 | g.94027795C= | CA3200791104 | GPC6 | c.778C= (p.Leu260=) c.568C= (p.Leu190=) c.412C= (p.Leu138=) | dbSNP |