Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96145173T>A | CA119559 | GDF6 | c.758A>T (p.Gln253Leu) c.707-11A>T (n.707-11A>T) c.359A>T (p.Gln120Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.96145173T>C | CA371751927 | GDF6 | c.758A>G (p.Gln253Arg) c.707-11A>G (n.707-11A>G) c.359A>G (p.Gln120Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |