Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151010400C>T | CA12525508 | NOS3 | c.2685+113C>T (n.2685+113C>T) c.2067+113C>T (n.2067+113C>T) c.566+113C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151010400C>G | CA1752459096 | NOS3 | c.2685+113C>G (n.2685+113C>G) c.2067+113C>G (n.2067+113C>G) c.566+113C>G | dbSNP |
7 | g.151010400C= | CA1752459094 | NOS3 | c.2685+113C= (n.2685+113C=) c.2067+113C= (n.2067+113C=) c.566+113C= | dbSNP |
7 | g.151010400C>A | CA2580576105 | NOS3 | c.2685+113C>A (n.2685+113C>A) c.2067+113C>A (n.2067+113C>A) c.566+113C>A | dbSNP gnomAD v4 |