| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72229677del | CA213055 | INPPL1 | c.768del (p.Glu258SerfsTer4) c.42del (p.Glu16SerfsTer4) c.27+119del (n.27+119del) c.570del (p.Glu192SerfsTer4) c.834del (p.Glu280SerfsTer4) c.804del (p.Glu270SerfsTer4) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72229677A= | CA1981897733 | INPPL1 | c.768A= (p.Thr256=) c.42A= (p.Thr14=) c.27+119A= (n.27+119A=) c.570A= (p.Thr190=) c.834A= (p.Thr278=) c.804A= (p.Thr268=) | dbSNP dbSNP |