| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41746162C>A | CA356737854 | PHOX2B | c.590G>T (p.Gly197Val) n.411G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746162C>T | CA117908 | PHOX2B | c.590G>A (p.Gly197Asp) n.411G>A | ClinVar dbSNP |
| 4 | g.41746162C= | CA3111540883 | PHOX2B | c.590G= (p.Gly197=) n.411G= | dbSNP |