Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117667029C>G | CA118642 | CFTR | c.*573C>G (n.*573C>G) c.*4078C>G (n.*4078C>G) c.4181C>G (p.Ser1394Ter) c.*577C>G (n.*577C>G) c.*896-573C>G (n.*896-573C>G) c.*833C>G (n.*833C>G) c.*70C>G (n.*70C>G) c.*904-573C>G (n.*904-573C>G) c.*2739C>G (n.*2739C>G) c.4358C>G (p.Ser1453Ter) c.*4188C>G (n.*4188C>G) c.3938C>G (p.Ser1313Ter) n.3875C>G c.1228C>G (n.1228C>G) c.2030-573C>G (n.2030-573C>G) c.1206C>G c.4364C>G (p.Ser1455Ter) c.1814C>G c.4274C>G (p.Ser1425Ter) c.368+1465C>G c.4454C>G (p.Ser1485Ter) c.4121C>G (p.Ser1374Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117667029C>A | CA368985134 | CFTR | c.*573C>A (n.*573C>A) c.*4078C>A (n.*4078C>A) c.4181C>A (p.Ser1394Ter) c.*577C>A (n.*577C>A) c.*896-573C>A (n.*896-573C>A) c.*833C>A (n.*833C>A) c.*70C>A (n.*70C>A) c.*904-573C>A (n.*904-573C>A) c.*2739C>A (n.*2739C>A) c.4358C>A (p.Ser1453Ter) c.*4188C>A (n.*4188C>A) c.3938C>A (p.Ser1313Ter) n.3875C>A c.1228C>A (n.1228C>A) c.2030-573C>A (n.2030-573C>A) c.1206C>A c.4364C>A (p.Ser1455Ter) c.1814C>A c.4274C>A (p.Ser1425Ter) c.368+1465C>A c.4454C>A (p.Ser1485Ter) c.4121C>A (p.Ser1374Ter) | ClinVar dbSNP |