| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41747357G>T | CA438978964 | PHOX2B | c.421C>A (p.Arg141=) n.242C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41747357G>C | CA117905 | PHOX2B | c.421C>G (p.Arg141Gly) n.242C>G | ClinVar dbSNP |
| 4 | g.41747357G= | CA3111514640 | PHOX2B | c.421C= (p.Arg141=) n.242C= | dbSNP |