Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.255869G>A | CA366525091 | FAM20C | c.1093G>A (p.Gly365Ser) n.750G>A n.1240G>A c.1354G>A (p.Gly452Ser) c.1351G>A (p.Gly451Ser) c.391G>A (p.Gly131Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.255869G>C | CA250010 | FAM20C | c.1093G>C (p.Gly365Arg) n.750G>C n.1240G>C c.1354G>C (p.Gly452Arg) c.1351G>C (p.Gly451Arg) c.391G>C (p.Gly131Arg) | ClinVar dbSNP |