Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.70435399C>A | CA209321630 | NODAL | c.778G>T (p.Gly260Ter) c.613G>T (p.Gly205Ter) c.379G>T (p.Gly127Ter) | dbSNP |
10 | g.70435399C>G | CA376945400 | NODAL | c.778G>C (p.Gly260Arg) c.613G>C (p.Gly205Arg) c.379G>C (p.Gly127Arg) | ClinVar dbSNP |
10 | g.70435399C>T | CA281595 | NODAL | c.778G>A (p.Gly260Arg) c.613G>A (p.Gly205Arg) c.379G>A (p.Gly127Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |