Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117594941dup | CA326834 | CFTR | c.2502dup (p.Asp835Ter) c.*2216dup (n.*2216dup) c.2319dup (p.Asp774Ter) c.*802dup (n.*802dup) c.*2326dup (n.*2326dup) c.2076dup (p.Asp693Ter) c.93dup (p.Asp32Ter) c.152dup c.1402-7885dup (n.1402-7885dup) c.2412dup (p.Asp805Ter) c.2592dup (p.Asp865Ter) c.2259dup (p.Asp754Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.117594941del | CA326835 | CFTR | c.2502del (p.Phe834LeufsTer10) c.*2216del (n.*2216del) c.2319del (p.Phe773LeufsTer10) c.*802del (n.*802del) c.*2326del (n.*2326del) c.2076del (p.Phe692LeufsTer10) c.93del (p.Phe31LeufsTer10) c.152del c.1402-7885del (n.1402-7885del) c.2412del (p.Phe804LeufsTer10) c.2592del (p.Phe864LeufsTer10) c.2259del (p.Phe753LeufsTer10) | ClinVar dbSNP gnomAD v4 |