| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6348981G>T | CA478118149 | SCNN1A | c.1522C>A (p.Arg508=) c.*593C>A (n.*593C>A) c.1699C>A (p.Arg567=) c.1464C>A (p.Arg488=) n.469C>A n.123C>A c.622C>A (p.Arg208=) c.1591C>A (p.Arg531=) n.87+714G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6348981G>C | CA6405802 | SCNN1A | c.1522C>G (p.Arg508Gly) c.*593C>G (n.*593C>G) c.1699C>G (p.Arg567Gly) c.1464C>G (p.Arg488=) n.469C>G n.123C>G c.622C>G (p.Arg208Gly) c.1591C>G (p.Arg531Gly) n.87+714G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6348981G>A | CA120270 | SCNN1A | c.1522C>T (p.Arg508Ter) c.*593C>T (n.*593C>T) c.1699C>T (p.Arg567Ter) c.1464C>T (p.Arg488=) n.469C>T n.123C>T c.622C>T (p.Arg208Ter) c.1591C>T (p.Arg531Ter) n.87+714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |