Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154156369A>G | CA415308307 | OPN1LW | c.820A>G (p.Ile274Val) c.384+25A>G (n.384+25A>G) n.664A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154156369A>C | CA415308304 | OPN1LW | c.820A>C (p.Ile274Leu) c.384+25A>C (n.384+25A>C) n.664A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.154156369A= | CA2466614106 | OPN1LW | c.820A= (p.Ile274=) c.384+25A= (n.384+25A=) n.664A= | dbSNP dbSNP |