| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233159830C>T | CA11049377 | INPP5D,PDE12 | c.1137+1411C>T (n.1137+1411C>T) c.1134+1411C>T (n.1134+1411C>T) c.357+1411C>T (n.357+1411C>T) c.-401+1411C>T (n.-401+1411C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233159830C= | CA1335611020 | INPP5D,PDE12 | c.1137+1411C= (n.1137+1411C=) c.1134+1411C= (n.1134+1411C=) c.357+1411C= (n.357+1411C=) c.-401+1411C= (n.-401+1411C=) | dbSNP |