Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.88007878C>T | CA16043404 | PKD2 | c.145C>T (p.Gln49Ter) n.240C>T n.232C>T n.244C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.88007878C= | CA1474562212 | PKD2 | c.145C= (p.Gln49=) n.240C= n.232C= n.244C= | dbSNP |