| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51747927del | CA224113 | PKHD1 | c.9689del (p.Asp3230ValfsTer?) c.9560del (p.Asp3187ValfsTer?) c.9551del (p.Asp3184ValfsTer?) c.9047del (p.Asp3016ValfsTer?) c.8978del (p.Asp2993ValfsTer?) c.3764del (p.Asp1255ValfsTer?) c.9614del (p.Asp3205ValfsTer?) c.9494del (p.Asp3165ValfsTer?) c.9425del (p.Asp3142ValfsTer?) c.7829del (p.Asp2610ValfsTer?) n.9965del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51747927T= | CA3134838232 | PKHD1 | c.9689A= (p.Asp3230=) c.9560A= (p.Asp3187=) c.9551A= (p.Asp3184=) c.9047A= (p.Asp3016=) c.8978A= (p.Asp2993=) c.3764A= (p.Asp1255=) c.9614A= (p.Asp3205=) c.9494A= (p.Asp3165=) c.9425A= (p.Asp3142=) c.7829A= (p.Asp2610=) n.9965A= | dbSNP dbSNP |