| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2092181G>A | CA7829208 | PKD1,PKD1-AS1 | c.11277C>T (p.Tyr3759=) c.11274C>T (p.Tyr3758=) n.126C>T c.5839C>T (n.5839C>T) c.390C>T n.440C>T c.8232C>T (p.Tyr2744=) c.11355C>T (p.Tyr3785=) c.11352C>T (p.Tyr3784=) c.11337C>T (p.Tyr3779=) c.11331C>T (p.Tyr3777=) c.11328C>T (p.Tyr3776=) c.11301C>T (p.Tyr3767=) c.11283C>T (p.Tyr3761=) c.11229C>T (p.Tyr3743=) c.11148C>T (p.Tyr3716=) c.11091C>T (p.Tyr3697=) c.9177C>T (p.Tyr3059=) c.8355C>T (p.Tyr2785=) n.11370C>T n.11117C>T n.11230C>T n.89+567G>A n.179+567G>A n.88+573G>A c.11397C>T (p.Tyr3799=) c.11325C>T (p.Tyr3775=) c.11187C>T (p.Tyr3729=) c.9273C>T (p.Tyr3091=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2092181G>C | CA16609452 | PKD1,PKD1-AS1 | c.11277C>G (p.Tyr3759Ter) c.11274C>G (p.Tyr3758Ter) n.126C>G c.5839C>G (n.5839C>G) c.390C>G n.440C>G c.8232C>G (p.Tyr2744Ter) c.11355C>G (p.Tyr3785Ter) c.11352C>G (p.Tyr3784Ter) c.11337C>G (p.Tyr3779Ter) c.11331C>G (p.Tyr3777Ter) c.11328C>G (p.Tyr3776Ter) c.11301C>G (p.Tyr3767Ter) c.11283C>G (p.Tyr3761Ter) c.11229C>G (p.Tyr3743Ter) c.11148C>G (p.Tyr3716Ter) c.11091C>G (p.Tyr3697Ter) c.9177C>G (p.Tyr3059Ter) c.8355C>G (p.Tyr2785Ter) n.11370C>G n.11117C>G n.11230C>G n.89+567G>C n.179+567G>C n.88+573G>C c.11397C>G (p.Tyr3799Ter) c.11325C>G (p.Tyr3775Ter) c.11187C>G (p.Tyr3729Ter) c.9273C>G (p.Tyr3091Ter) | ClinVar dbSNP |