| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592218_117592219dup | CA913190194 | CFTR | c.2051_2052dup (p.Gln685AsnfsTer?) c.*1765_*1766dup (n.*1765_*1766dup) c.1868_1869dup (p.Gln624AsnfsTer?) c.*351_*352dup (n.*351_*352dup) c.*1875_*1876dup (n.*1875_*1876dup) c.1625_1626dup (p.Gln543AsnfsTer?) c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup) c.1961_1962dup (p.Gln655AsnfsTer?) c.2141_2142dup (p.Gln715AsnfsTer?) c.1808_1809dup (p.Gln604AsnfsTer?) | ClinVar dbSNP |
| 7 | g.117592219del | CA344706 | CFTR | c.2052del (p.Lys684AsnfsTer?) c.*1766del (n.*1766del) c.1869del (p.Lys623AsnfsTer?) c.*352del (n.*352del) c.*1876del (n.*1876del) c.1626del (p.Lys542AsnfsTer?) c.1402-10607del (n.1402-10607del) c.1962del (p.Lys654AsnfsTer?) c.2142del (p.Lys714AsnfsTer?) c.1809del (p.Lys603AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592218_117592219del | CA326739 | CFTR | c.2051_2052del (p.Lys684ThrfsTer4) c.*1765_*1766del (n.*1765_*1766del) c.1868_1869del (p.Lys623ThrfsTer4) c.*351_*352del (n.*351_*352del) c.*1875_*1876del (n.*1875_*1876del) c.1625_1626del (p.Lys542ThrfsTer4) c.1402-10608_1402-10607del (n.1402-10608_1402-10607del) c.1961_1962del (p.Lys654ThrfsTer4) c.2141_2142del (p.Lys714ThrfsTer4) c.1808_1809del (p.Lys603ThrfsTer4) | ClinVar dbSNP |
| 7 | g.117592216_117592219del | CA2573052803 | CFTR | c.2049_2052del (p.Lys683AsnfsTer?) c.*1763_*1766del (n.*1763_*1766del) c.1866_1869del (p.Lys622AsnfsTer?) c.*349_*352del (n.*349_*352del) c.*1873_*1876del (n.*1873_*1876del) c.1623_1626del (p.Lys541AsnfsTer?) c.1402-10610_1402-10607del (n.1402-10610_1402-10607del) c.1959_1962del (p.Lys653AsnfsTer?) c.2139_2142del (p.Lys713AsnfsTer?) c.1806_1809del (p.Lys602AsnfsTer?) | ClinVar dbSNP |
| 7 | g.117592219dup | CA233699 | CFTR | c.2052dup (p.Gln685ThrfsTer4) c.*1766dup (n.*1766dup) c.1869dup (p.Gln624ThrfsTer4) c.*352dup (n.*352dup) c.*1876dup (n.*1876dup) c.1626dup (p.Gln543ThrfsTer4) c.1402-10607dup (n.1402-10607dup) c.1962dup (p.Gln655ThrfsTer4) c.2142dup (p.Gln715ThrfsTer4) c.1809dup (p.Gln604ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |