| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26479263C>A | CA342564 | OTOF | c.2214+1G>T (n.2214+1G>T) c.2259+1G>T (n.2259+1G>T) | ClinVar dbSNP |
| 2 | g.26479263C= | CA1239831883 | OTOF | c.2214+1G= (n.2214+1G=) c.2259+1G= (n.2259+1G=) | dbSNP |
| 2 | g.26479263C>T | CA346127109 | OTOF | c.2214+1G>A (n.2214+1G>A) c.2259+1G>A (n.2259+1G>A) | ClinVar dbSNP gnomAD v4 |