| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.88074903C>T | CA3004304 | PKD2 | c.2614C>T (p.Arg872Ter) c.868C>T (p.Arg290Ter) n.866C>T n.1092C>T c.2389C>T (p.Arg797Ter) c.1894C>T (p.Arg632Ter) c.1774C>T (p.Arg592Ter) n.2580C>T n.2592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.88074903C>A | CA440268734 | PKD2 | c.2614C>A (p.Arg872=) c.868C>A (p.Arg290=) n.866C>A n.1092C>A c.2389C>A (p.Arg797=) c.1894C>A (p.Arg632=) c.1774C>A (p.Arg592=) n.2580C>A n.2592C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.88074903C>G | CA3004303 | PKD2 | c.2614C>G (p.Arg872Gly) c.868C>G (p.Arg290Gly) n.866C>G n.1092C>G c.2389C>G (p.Arg797Gly) c.1894C>G (p.Arg632Gly) c.1774C>G (p.Arg592Gly) n.2580C>G n.2592C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |