| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.50997951C>G | CA1249862502 | NRXN1 | c.772+29551G>C (n.772+29551G>C) c.329+29551G>C c.871+28420G>C (n.871+28420G>C) c.297+29551G>C c.301+28420G>C (n.301+28420G>C) | dbSNP |
| 2 | g.50997951C>T | CA48050912 | NRXN1 | c.772+29551G>A (n.772+29551G>A) c.329+29551G>A c.871+28420G>A (n.871+28420G>A) c.297+29551G>A c.301+28420G>A (n.301+28420G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.50997951C= | CA1249862501 | NRXN1 | c.772+29551G= (n.772+29551G=) c.329+29551G= c.871+28420G= (n.871+28420G=) c.297+29551G= c.301+28420G= (n.301+28420G=) | dbSNP |