| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233133771C>T | CA1335598705 | INPP5D,PDE12 | c.665+3123C>T (n.665+3123C>T) c.662+3123C>T (n.662+3123C>T) n.778+3123C>T c.-873+3123C>T (n.-873+3123C>T) | dbSNP |
| 2 | g.233133771C>A | CA11101859 | INPP5D,PDE12 | c.665+3123C>A (n.665+3123C>A) c.662+3123C>A (n.662+3123C>A) n.778+3123C>A c.-873+3123C>A (n.-873+3123C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233133771C>G | CA1335598704 | INPP5D,PDE12 | c.665+3123C>G (n.665+3123C>G) c.662+3123C>G (n.662+3123C>G) n.778+3123C>G c.-873+3123C>G (n.-873+3123C>G) | dbSNP |