Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.132084540A>T | CA414680817 | FRMD7 | c.691T>A (p.Leu231Met) c.331T>A (p.Leu111Met) c.646T>A (p.Leu216Met) c.643T>A (p.Leu215Met) c.436T>A (p.Leu146Met) c.217T>A (p.Leu73Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.132084540A>C | CA259720 | FRMD7 | c.691T>G (p.Leu231Val) c.331T>G (p.Leu111Val) c.646T>G (p.Leu216Val) c.643T>G (p.Leu215Val) c.436T>G (p.Leu146Val) c.217T>G (p.Leu73Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |