| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590355C>A | CA325617 | CFTR | c.1682C>A (p.Ala561Glu) c.*1396C>A (n.*1396C>A) c.1499C>A (p.Ala500Glu) c.1680-3C>A (n.1680-3C>A) c.*1506C>A (n.*1506C>A) c.1256C>A (p.Ala419Glu) c.1402-12471C>A (n.1402-12471C>A) c.1592C>A (p.Ala531Glu) c.1772C>A (p.Ala591Glu) c.1439C>A (p.Ala480Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590355C>T | CA368977004 | CFTR | c.1682C>T (p.Ala561Val) c.*1396C>T (n.*1396C>T) c.1499C>T (p.Ala500Val) c.1680-3C>T (n.1680-3C>T) c.*1506C>T (n.*1506C>T) c.1256C>T (p.Ala419Val) c.1402-12471C>T (n.1402-12471C>T) c.1592C>T (p.Ala531Val) c.1772C>T (p.Ala591Val) c.1439C>T (p.Ala480Val) | ClinVar dbSNP gnomAD v4 |