| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.114663469A>C | CA4446208 | FOXP2 | c.1840A>C (p.Asn614His) c.1780A>C (p.Asn594His) c.1789A>C (p.Asn597His) c.1915A>C (p.Asn639His) c.1234A>C (p.Asn412His) c.686A>C c.*1583A>C (n.*1583A>C) c.1513A>C (p.Asn505His) c.1726A>C (p.Asn576His) c.1864A>C (p.Asn622His) c.*1507A>C (n.*1507A>C) c.*1789A>C (n.*1789A>C) c.1738A>C (p.Asn580His) c.1729A>C (p.Asn577His) n.264A>C c.*1586A>C (n.*1586A>C) c.1792A>C (p.Asn598His) c.1786A>C (p.Asn596His) n.2174A>C n.2221A>C c.1933A>C (p.Asn645His) n.2157A>C n.2403A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.114663469A= | CA1736048465 | FOXP2 | c.1840A= (p.Asn614=) c.1780A= (p.Asn594=) c.1789A= (p.Asn597=) c.1915A= (p.Asn639=) c.1234A= (p.Asn412=) c.686A= c.*1583A= (n.*1583A=) c.1513A= (p.Asn505=) c.1726A= (p.Asn576=) c.1864A= (p.Asn622=) c.*1507A= (n.*1507A=) c.*1789A= (n.*1789A=) c.1738A= (p.Asn580=) c.1729A= (p.Asn577=) n.264A= c.*1586A= (n.*1586A=) c.1792A= (p.Asn598=) c.1786A= (p.Asn596=) n.2174A= n.2221A= c.1933A= (p.Asn645=) n.2157A= n.2403A= | dbSNP |