| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642484C>A | CA325525 | CFTR | c.3564C>A (p.Ile1188=) c.*3478C>A (n.*3478C>A) c.3581C>A (p.Ser1194Ter) c.3764C>A (p.Ser1255Ter) c.*417C>A (n.*417C>A) c.*425C>A (n.*425C>A) c.*2139C>A (n.*2139C>A) c.3758C>A (p.Ser1253Ter) c.*3588C>A (n.*3588C>A) c.3338C>A (p.Ser1113Ter) c.512C>A (p.Ser171Ter) c.1551C>A (n.1551C>A) c.346C>A c.1214C>A c.3674C>A (p.Ser1225Ter) c.3854C>A (p.Ser1285Ter) c.3521C>A (p.Ser1174Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642484C>T | CA327282 | CFTR | c.3564C>T (p.Ile1188=) c.*3478C>T (n.*3478C>T) c.3581C>T (p.Ser1194Leu) c.3764C>T (p.Ser1255Leu) c.*417C>T (n.*417C>T) c.*425C>T (n.*425C>T) c.*2139C>T (n.*2139C>T) c.3758C>T (p.Ser1253Leu) c.*3588C>T (n.*3588C>T) c.3338C>T (p.Ser1113Leu) c.512C>T (p.Ser171Leu) c.1551C>T (n.1551C>T) c.346C>T c.1214C>T c.3674C>T (p.Ser1225Leu) c.3854C>T (p.Ser1285Leu) c.3521C>T (p.Ser1174Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642484C= | CA1737404755 | CFTR | c.3564C= (p.Ile1188=) c.*3478C= (n.*3478C=) c.3581C= (p.Ser1194=) c.3764C= (p.Ser1255=) c.*417C= (n.*417C=) c.*425C= (n.*425C=) c.*2139C= (n.*2139C=) c.3758C= (p.Ser1253=) c.*3588C= (n.*3588C=) c.3338C= (p.Ser1113=) c.512C= (p.Ser171=) c.1551C= (n.1551C=) c.346C= c.1214C= c.3674C= (p.Ser1225=) c.3854C= (p.Ser1285=) c.3521C= (p.Ser1174=) | dbSNP |