| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2116564G>A | CA16620111 | PKD1 | c.1687C>T (p.Gln563Ter) c.472+925C>T c.618C>T (n.618C>T) c.1741C>T (p.Gln581Ter) c.1669C>T (p.Gln557Ter) c.1615C>T (p.Gln539Ter) c.1534C>T (p.Gln512Ter) c.1477C>T (p.Gln493Ter) n.1756C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.2116564G>C | CA394391414 | PKD1 | c.1687C>G (p.Gln563Glu) c.472+925C>G c.618C>G (n.618C>G) c.1741C>G (p.Gln581Glu) c.1669C>G (p.Gln557Glu) c.1615C>G (p.Gln539Glu) c.1534C>G (p.Gln512Glu) c.1477C>G (p.Gln493Glu) n.1756C>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.2116564G= | CA2202051120 | PKD1 | c.1687C= (p.Gln563=) c.472+925C= c.618C= (n.618C=) c.1741C= (p.Gln581=) c.1669C= (p.Gln557=) c.1615C= (p.Gln539=) c.1534C= (p.Gln512=) c.1477C= (p.Gln493=) n.1756C= | dbSNP |