Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.171110939G>A | CA257480 | FMO3 | c.769G>A (p.Val257Met) c.580G>A (p.Val194Met) c.709G>A (p.Val237Met) c.80+2718G>A (n.80+2718G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171110939G= | CA1139888262 | FMO3 | c.769G= (p.Val257=) c.580G= (p.Val194=) c.709G= (p.Val237=) c.80+2718G= (n.80+2718G=) | dbSNP |
1 | g.171110939G>C | CA343186535 | FMO3 | c.769G>C (p.Val257Leu) c.580G>C (p.Val194Leu) c.709G>C (p.Val237Leu) c.80+2718G>C (n.80+2718G>C) | dbSNP gnomAD v4 |