Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.117327262G>A | CA13730138 | NOS1 | c.725+3083C>T (n.725+3083C>T) c.722+3083C>T (n.722+3083C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117327262G= | CA2066017107 | NOS1 | c.725+3083C= (n.725+3083C=) c.722+3083C= (n.722+3083C=) | dbSNP |