| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.41479019C>T | CA10723096 | EDN2 | c.*390G>A (n.*390G>A) n.918G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.41479019C>G | CA735822730 | EDN2 | c.*390G>C (n.*390G>C) n.918G>C | dbSNP |
| 1 | g.41479019C= | CA1139773023 | EDN2 | c.*390G= (n.*390G=) n.918G= | dbSNP |