| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659489del | CA3851042 | PKHD1 | c.10637del (p.Val3546AlafsTer22) c.10508del (p.Val3503AlafsTer22) c.10499del (p.Val3500AlafsTer22) c.9995del (p.Val3332AlafsTer22) c.9926del (p.Val3309AlafsTer22) c.10157-10269del (n.10157-10269del) c.4712del (p.Val1571AlafsTer22) n.535+7116del n.403+7116del c.10562del (p.Val3521AlafsTer22) c.10442del (p.Val3481AlafsTer22) c.10373del (p.Val3458AlafsTer22) c.8777del (p.Val2926AlafsTer22) n.10913del n.3145+7116del n.3013+7116del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51659489A= | CA3135047722 | PKHD1 | c.10637T= (p.Val3546=) c.10508T= (p.Val3503=) c.10499T= (p.Val3500=) c.9995T= (p.Val3332=) c.9926T= (p.Val3309=) c.10157-10269T= (n.10157-10269T=) c.4712T= (p.Val1571=) n.535+7116A= n.403+7116A= c.10562T= (p.Val3521=) c.10442T= (p.Val3481=) c.10373T= (p.Val3458=) c.8777T= (p.Val2926=) n.10913T= n.3145+7116A= n.3013+7116A= | dbSNP |