| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2091806G>A | CA119370 | PKD1,PKD1-AS1 | c.11512C>T (p.Gln3838Ter) c.11509C>T (p.Gln3837Ter) n.501C>T c.6074C>T (n.6074C>T) c.173C>T n.208C>T c.8467C>T (p.Gln2823Ter) c.11590C>T (p.Gln3864Ter) c.11587C>T (p.Gln3863Ter) c.11572C>T (p.Gln3858Ter) c.11566C>T (p.Gln3856Ter) c.11563C>T (p.Gln3855Ter) c.11536C>T (p.Gln3846Ter) c.11518C>T (p.Gln3840Ter) c.11464C>T (p.Gln3822Ter) c.11383C>T (p.Gln3795Ter) c.11326C>T (p.Gln3776Ter) c.9412C>T (p.Gln3138Ter) c.8590C>T (p.Gln2864Ter) n.11605C>T n.11352C>T n.89+192G>A n.179+192G>A n.88+198G>A c.11632C>T (p.Gln3878Ter) c.11560C>T (p.Gln3854Ter) c.11422C>T (p.Gln3808Ter) c.9508C>T (p.Gln3170Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2091806G= | CA2202018287 | PKD1,PKD1-AS1 | c.11512C= (p.Gln3838=) c.11509C= (p.Gln3837=) n.501C= c.6074C= (n.6074C=) c.173C= n.208C= c.8467C= (p.Gln2823=) c.11590C= (p.Gln3864=) c.11587C= (p.Gln3863=) c.11572C= (p.Gln3858=) c.11566C= (p.Gln3856=) c.11563C= (p.Gln3855=) c.11536C= (p.Gln3846=) c.11518C= (p.Gln3840=) c.11464C= (p.Gln3822=) c.11383C= (p.Gln3795=) c.11326C= (p.Gln3776=) c.9412C= (p.Gln3138=) c.8590C= (p.Gln2864=) n.11605C= n.11352C= n.89+192G= n.179+192G= n.88+198G= c.11632C= (p.Gln3878=) c.11560C= (p.Gln3854=) c.11422C= (p.Gln3808=) c.9508C= (p.Gln3170=) | dbSNP |