| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23367942A>G | CA119968 | SCNN1B | c.863A>G (p.Asn288Ser) c.998A>G (p.Asn333Ser) c.777-3357A>G (n.777-3357A>G) c.160A>G c.782A>G (p.Asn261Ser) c.896A>G (p.Asn299Ser) c.881A>G (p.Asn294Ser) c.920A>G (p.Asn307Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23367942A= | CA2213305710 | SCNN1B | c.863A= (p.Asn288=) c.998A= (p.Asn333=) c.777-3357A= (n.777-3357A=) c.160A= c.782A= (p.Asn261=) c.896A= (p.Asn299=) c.881A= (p.Asn294=) c.920A= (p.Asn307=) | dbSNP |