| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.117329773C>A | CA2066019658 | NOS1 | c.725+572G>T (n.725+572G>T) c.722+572G>T (n.722+572G>T) | dbSNP |
| 12 | g.117329773C>G | CA684164265 | NOS1 | c.725+572G>C (n.725+572G>C) c.722+572G>C (n.722+572G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.117329773C>T | CA13603882 | NOS1 | c.725+572G>A (n.725+572G>A) c.722+572G>A (n.722+572G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |