| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70435629C>T | CA223516 | NODAL | c.548G>A (p.Arg183Gln) c.383G>A (p.Arg128Gln) c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435629C>G | CA376945980 | NODAL | c.548G>C (p.Arg183Pro) c.383G>C (p.Arg128Pro) c.149G>C (p.Arg50Pro) | dbSNP |
| 10 | g.70435629C= | CA1918249867 | NODAL | c.548G= (p.Arg183=) c.383G= (p.Arg128=) c.149G= (p.Arg50=) | dbSNP |