| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.77901095C>T | CA257563 | EDNRB,EDNRB-AS1 | c.914G>A (p.Ser305Asn) c.392G>A (p.Ser131Asn) c.1184G>A (p.Ser395Asn) n.1695-6597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.77901095C>G | CA388451961 | EDNRB,EDNRB-AS1 | c.914G>C (p.Ser305Thr) c.392G>C (p.Ser131Thr) c.1184G>C (p.Ser395Thr) n.1695-6597C>G | dbSNP gnomAD v4 |
| 13 | g.77901095C= | CA2018007874 | EDNRB,EDNRB-AS1 | c.914G= (p.Ser305=) c.392G= (p.Ser131=) c.1184G= (p.Ser395=) n.1695-6597C= | dbSNP |