| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652876dup | CA327338 | CFTR | c.*117dup (n.*117dup) c.*3622dup (n.*3622dup) c.3725dup (p.Asn1242LysfsTer6) c.*121dup (n.*121dup) c.*561dup (n.*561dup) c.3908dup (p.Asn1303LysfsTer6) c.*569dup (n.*569dup) c.*2283dup (n.*2283dup) c.3902dup (p.Asn1301LysfsTer6) c.*3732dup (n.*3732dup) c.3482dup (p.Asn1161LysfsTer6) n.2076dup c.772dup (n.772dup) c.1695dup (n.1695dup) c.490dup c.1358dup c.3818dup (p.Asn1273LysfsTer6) c.34dup c.3998dup (p.Asn1333LysfsTer6) c.3665dup (p.Asn1222LysfsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117652876del | CA327337 | CFTR | c.*117del (n.*117del) c.*3622del (n.*3622del) c.3725del (p.Asn1242ThrfsTer25) c.*121del (n.*121del) c.*561del (n.*561del) c.3908del (p.Asn1303ThrfsTer25) c.*569del (n.*569del) c.*2283del (n.*2283del) c.3902del (p.Asn1301ThrfsTer25) c.*3732del (n.*3732del) c.3482del (p.Asn1161ThrfsTer25) n.2076del c.772del (n.772del) c.1695del (n.1695del) c.490del c.1358del c.3818del (p.Asn1273ThrfsTer25) c.34del c.3998del (p.Asn1333ThrfsTer25) c.3665del (p.Asn1222ThrfsTer25) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |