| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2094175G>A | CA7829527 | PKD1,PKD1-AS1 | c.10535C>T (p.Ala3512Val) c.10532C>T (p.Ala3511Val) c.5097C>T (n.5097C>T) c.7490C>T (p.Ala2497Val) c.10613C>T (p.Ala3538Val) c.10610C>T (p.Ala3537Val) c.10595C>T (p.Ala3532Val) c.10589C>T (p.Ala3530Val) c.10586C>T (p.Ala3529Val) c.10559C>T (p.Ala3520Val) c.10541C>T (p.Ala3514Val) c.10487C>T (p.Ala3496Val) c.10406C>T (p.Ala3469Val) c.10349C>T (p.Ala3450Val) c.8435C>T (p.Ala2812Val) c.7613C>T (p.Ala2538Val) n.10628C>T n.214-503G>A n.304-546G>A n.213-503G>A n.213-546G>A c.10655C>T (p.Ala3552Val) c.10583C>T (p.Ala3528Val) c.10445C>T (p.Ala3482Val) c.8531C>T (p.Ala2844Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2094175G= | CA2202026390 | PKD1,PKD1-AS1 | c.10535C= (p.Ala3512=) c.10532C= (p.Ala3511=) c.5097C= (n.5097C=) c.7490C= (p.Ala2497=) c.10613C= (p.Ala3538=) c.10610C= (p.Ala3537=) c.10595C= (p.Ala3532=) c.10589C= (p.Ala3530=) c.10586C= (p.Ala3529=) c.10559C= (p.Ala3520=) c.10541C= (p.Ala3514=) c.10487C= (p.Ala3496=) c.10406C= (p.Ala3469=) c.10349C= (p.Ala3450=) c.8435C= (p.Ala2812=) c.7613C= (p.Ala2538=) n.10628C= n.214-503G= n.304-546G= n.213-503G= n.213-546G= c.10655C= (p.Ala3552=) c.10583C= (p.Ala3528=) c.10445C= (p.Ala3482=) c.8531C= (p.Ala2844=) | dbSNP |