| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2094127C>A | CA394341463 | PKD1,PKD1-AS1 | c.10583G>T (p.Trp3528Leu) c.10580G>T (p.Trp3527Leu) n.20G>T c.5145G>T (n.5145G>T) c.7538G>T (p.Trp2513Leu) c.10661G>T (p.Trp3554Leu) c.10658G>T (p.Trp3553Leu) c.10643G>T (p.Trp3548Leu) c.10637G>T (p.Trp3546Leu) c.10634G>T (p.Trp3545Leu) c.10607G>T (p.Trp3536Leu) c.10589G>T (p.Trp3530Leu) c.10535G>T (p.Trp3512Leu) c.10454G>T (p.Trp3485Leu) c.10397G>T (p.Trp3466Leu) c.8483G>T (p.Trp2828Leu) c.7661G>T (p.Trp2554Leu) n.10676G>T n.214-551C>A n.304-594C>A n.213-551C>A n.213-594C>A c.10703G>T (p.Trp3568Leu) c.10631G>T (p.Trp3544Leu) c.10493G>T (p.Trp3498Leu) c.8579G>T (p.Trp2860Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2094127C>T | CA10654768 | PKD1,PKD1-AS1 | c.10583G>A (p.Trp3528Ter) c.10580G>A (p.Trp3527Ter) n.20G>A c.5145G>A (n.5145G>A) c.7538G>A (p.Trp2513Ter) c.10661G>A (p.Trp3554Ter) c.10658G>A (p.Trp3553Ter) c.10643G>A (p.Trp3548Ter) c.10637G>A (p.Trp3546Ter) c.10634G>A (p.Trp3545Ter) c.10607G>A (p.Trp3536Ter) c.10589G>A (p.Trp3530Ter) c.10535G>A (p.Trp3512Ter) c.10454G>A (p.Trp3485Ter) c.10397G>A (p.Trp3466Ter) c.8483G>A (p.Trp2828Ter) c.7661G>A (p.Trp2554Ter) n.10676G>A n.214-551C>T n.304-594C>T n.213-551C>T n.213-594C>T c.10703G>A (p.Trp3568Ter) c.10631G>A (p.Trp3544Ter) c.10493G>A (p.Trp3498Ter) c.8579G>A (p.Trp2860Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2094127C= | CA2202026192 | PKD1,PKD1-AS1 | c.10583G= (p.Trp3528=) c.10580G= (p.Trp3527=) n.20G= c.5145G= (n.5145G=) c.7538G= (p.Trp2513=) c.10661G= (p.Trp3554=) c.10658G= (p.Trp3553=) c.10643G= (p.Trp3548=) c.10637G= (p.Trp3546=) c.10634G= (p.Trp3545=) c.10607G= (p.Trp3536=) c.10589G= (p.Trp3530=) c.10535G= (p.Trp3512=) c.10454G= (p.Trp3485=) c.10397G= (p.Trp3466=) c.8483G= (p.Trp2828=) c.7661G= (p.Trp2554=) n.10676G= n.214-551C= n.304-594C= n.213-551C= n.213-594C= c.10703G= (p.Trp3568=) c.10631G= (p.Trp3544=) c.10493G= (p.Trp3498=) c.8579G= (p.Trp2860=) | dbSNP |