Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.109137529G>A | CA10575812 | FRRS1L | c.808C>T (p.Gln270Ter) c.588C>T (n.588C>T) c.961C>T (p.Gln321Ter) c.613C>T (p.Gln205Ter) | ClinVar dbSNP |
9 | g.109137529G>T | CA374422921 | FRRS1L | c.808C>A (p.Gln270Lys) c.588C>A (n.588C>A) c.961C>A (p.Gln321Lys) c.613C>A (p.Gln205Lys) | dbSNP gnomAD v4 |
9 | g.109137529G>C | CA374422919 | FRRS1L | c.808C>G (p.Gln270Glu) c.588C>G (n.588C>G) c.961C>G (p.Gln321Glu) c.613C>G (p.Gln205Glu) | dbSNP gnomAD v4 |
9 | g.109137529G= | CA1871444387 | FRRS1L | c.808C= (p.Gln270=) c.588C= (n.588C=) c.961C= (p.Gln321=) c.613C= (p.Gln205=) | dbSNP |