Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.117323735A>G | CA13697214 | NOS1 | c.725+6610T>C (n.725+6610T>C) c.722+6610T>C (n.722+6610T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117323735A>T | CA607677666 | NOS1 | c.725+6610T>A (n.725+6610T>A) c.722+6610T>A (n.722+6610T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |