| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135030510A>G | CA11944370 | PITX1 | c.402+766T>C (n.402+766T>C) c.524+766T>C n.735+766T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135030510A= | CA1584340747 | PITX1 | c.402+766T= (n.402+766T=) c.524+766T= n.735+766T= | dbSNP |