| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77918405C>T | CA257561 | EDNRB | c.169G>A (p.Gly57Ser) c.439G>A (p.Gly147Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.77918405C>G | CA388452895 | EDNRB | c.169G>C (p.Gly57Arg) c.439G>C (p.Gly147Arg) | dbSNP |
| 13 | g.77918405C= | CA2018046971 | EDNRB | c.169G= (p.Gly57=) c.439G= (p.Gly147=) | dbSNP |