| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72229116C>A | CA130324 | INPPL1 | c.545C>A (p.Ser182Ter) c.-182C>A (n.-182C>A) c.347C>A (p.Ser116Ter) c.611C>A (p.Ser204Ter) c.581C>A (p.Ser194Ter) | ClinVar dbSNP |
| 11 | g.72229116C>G | CA6169706 | INPPL1 | c.545C>G (p.Ser182Trp) c.-182C>G (n.-182C>G) c.347C>G (p.Ser116Trp) c.611C>G (p.Ser204Trp) c.581C>G (p.Ser194Trp) | dbSNP ExAC gnomAD v2 |
| 11 | g.72229116C>T | CA6169707 | INPPL1 | c.545C>T (p.Ser182Leu) c.-182C>T (n.-182C>T) c.347C>T (p.Ser116Leu) c.611C>T (p.Ser204Leu) c.581C>T (p.Ser194Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |