| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23367879C>T | CA119964 | SCNN1B | c.800C>T (p.Pro267Leu) c.935C>T (p.Pro312Leu) c.777-3420C>T (n.777-3420C>T) c.97C>T c.719C>T (p.Pro240Leu) c.833C>T (p.Pro278Leu) c.818C>T (p.Pro273Leu) c.857C>T (p.Pro286Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23367879C= | CA2213305687 | SCNN1B | c.800C= (p.Pro267=) c.935C= (p.Pro312=) c.777-3420C= (n.777-3420C=) c.97C= c.719C= (p.Pro240=) c.833C= (p.Pro278=) c.818C= (p.Pro273=) c.857C= (p.Pro286=) | dbSNP |