| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112837568_112837569del | CA645372778 | APC | c.1639_1640del (n.1639_1640del) c.2028_2029del (p.Asn677GlnfsTer14) c.*1980_*1981del (n.*1980_*1981del) c.1920_1921del (p.Asn641GlnfsTer14) c.1974_1975del (p.Asn659GlnfsTer14) c.327_328del c.663_664del (p.Asn222GlnfsTer14) c.*1296_*1297del (n.*1296_*1297del) c.230+8596_230+8597del c.2004_2005del (p.Asn669GlnfsTer14) c.1899_1900del (p.Asn634GlnfsTer14) c.1890_1891del (p.Asn631GlnfsTer14) c.1851_1852del (p.Asn618GlnfsTer14) c.1797_1798del (p.Asn600GlnfsTer14) c.1701_1702del (p.Asn568GlnfsTer14) c.1671_1672del (p.Asn558GlnfsTer14) c.1596_1597del (p.Asn533GlnfsTer14) c.1494_1495del (p.Asn499GlnfsTer14) c.1125_1126del (p.Asn376GlnfsTer14) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112837566_112837569del | CA279689 | APC | c.1637_1640del (n.1637_1640del) c.2026_2029del (p.Glu676ThrfsTer11) c.*1978_*1981del (n.*1978_*1981del) c.1918_1921del (p.Glu640ThrfsTer11) c.1972_1975del (p.Glu658ThrfsTer11) c.325_328del c.661_664del (p.Glu221ThrfsTer11) c.*1294_*1297del (n.*1294_*1297del) c.230+8594_230+8597del c.2002_2005del (p.Glu668ThrfsTer11) c.1897_1900del (p.Glu633ThrfsTer11) c.1888_1891del (p.Glu630ThrfsTer11) c.1849_1852del (p.Glu617ThrfsTer11) c.1795_1798del (p.Glu599ThrfsTer11) c.1699_1702del (p.Glu567ThrfsTer11) c.1669_1672del (p.Glu557ThrfsTer11) c.1594_1597del (p.Glu532ThrfsTer11) c.1492_1495del (p.Glu498ThrfsTer11) c.1123_1126del (p.Glu375ThrfsTer11) | ClinVar dbSNP |