Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.117309785T>G | CA13778711 | NOS1 | c.852+1681A>C (n.852+1681A>C) c.849+1681A>C (n.849+1681A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.117309785T= | CA2066001486 | NOS1 | c.852+1681A= (n.852+1681A=) c.849+1681A= (n.849+1681A=) | dbSNP |