Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51015132A>C | CA1249871740 | NRXN1 | c.772+12370T>G (n.772+12370T>G) c.329+12370T>G n.67-5854T>G c.871+11239T>G (n.871+11239T>G) c.297+12370T>G c.301+11239T>G (n.301+11239T>G) | dbSNP |
2 | g.51015132A>G | CA48053229 | NRXN1 | c.772+12370T>C (n.772+12370T>C) c.329+12370T>C n.67-5854T>C c.871+11239T>C (n.871+11239T>C) c.297+12370T>C c.301+11239T>C (n.301+11239T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51015132A>T | CA1249871741 | NRXN1 | c.772+12370T>A (n.772+12370T>A) c.329+12370T>A n.67-5854T>A c.871+11239T>A (n.871+11239T>A) c.297+12370T>A c.301+11239T>A (n.301+11239T>A) | dbSNP |