| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72230168A>G | CA6169857 | INPPL1 | c.987A>G (p.Ser329=) c.261A>G (p.Ser87=) c.171A>G (p.Ser57=) c.789A>G (p.Ser263=) c.1053A>G (p.Ser351=) c.1023A>G (p.Ser341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230168A= | CA1981897949 | INPPL1 | c.987A= (p.Ser329=) c.261A= (p.Ser87=) c.171A= (p.Ser57=) c.789A= (p.Ser263=) c.1053A= (p.Ser351=) c.1023A= (p.Ser341=) | dbSNP |