| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652905C>A | CA327357 | CFTR | c.*146C>A (n.*146C>A) c.*3651C>A (n.*3651C>A) c.3754C>A (p.Gln1252Lys) c.*150C>A (n.*150C>A) c.*590C>A (n.*590C>A) c.3937C>A (p.Gln1313Lys) c.*598C>A (n.*598C>A) c.*2312C>A (n.*2312C>A) c.3931C>A (p.Gln1311Lys) c.*3761C>A (n.*3761C>A) c.3511C>A (p.Gln1171Lys) n.2105C>A c.801C>A (n.801C>A) c.1724C>A (n.1724C>A) c.519C>A c.1387C>A c.3847C>A (p.Gln1283Lys) c.63C>A c.4027C>A (p.Gln1343Lys) c.3694C>A (p.Gln1232Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117652905C>T | CA340650 | CFTR | c.*146C>T (n.*146C>T) c.*3651C>T (n.*3651C>T) c.3754C>T (p.Gln1252Ter) c.*150C>T (n.*150C>T) c.*590C>T (n.*590C>T) c.3937C>T (p.Gln1313Ter) c.*598C>T (n.*598C>T) c.*2312C>T (n.*2312C>T) c.3931C>T (p.Gln1311Ter) c.*3761C>T (n.*3761C>T) c.3511C>T (p.Gln1171Ter) n.2105C>T c.801C>T (n.801C>T) c.1724C>T (n.1724C>T) c.519C>T c.1387C>T c.3847C>T (p.Gln1283Ter) c.63C>T c.4027C>T (p.Gln1343Ter) c.3694C>T (p.Gln1232Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117652905C= | CA1737411262 | CFTR | c.*146C= (n.*146C=) c.*3651C= (n.*3651C=) c.3754C= (p.Gln1252=) c.*150C= (n.*150C=) c.*590C= (n.*590C=) c.3937C= (p.Gln1313=) c.*598C= (n.*598C=) c.*2312C= (n.*2312C=) c.3931C= (p.Gln1311=) c.*3761C= (n.*3761C=) c.3511C= (p.Gln1171=) n.2105C= c.801C= (n.801C=) c.1724C= (n.1724C=) c.519C= c.1387C= c.3847C= (p.Gln1283=) c.63C= c.4027C= (p.Gln1343=) c.3694C= (p.Gln1232=) | dbSNP |