Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.114662075G>A | CA117244 | FOXP2 | c.1709G>A (p.Arg570His) c.1649G>A (p.Arg550His) c.1658G>A (p.Arg553His) c.1784G>A (p.Arg595His) c.1103G>A (p.Arg368His) c.555G>A c.*1452G>A (n.*1452G>A) c.1382G>A (p.Arg461His) c.1595G>A (p.Arg532His) c.1733G>A (p.Arg578His) c.*1376G>A (n.*1376G>A) c.*1658G>A (n.*1658G>A) c.1607G>A (p.Arg536His) c.1598G>A (p.Arg533His) n.133G>A c.*1455G>A (n.*1455G>A) c.1661G>A (p.Arg554His) c.1655G>A (p.Arg552His) n.2043G>A n.2090G>A c.1802G>A (p.Arg601His) n.2026G>A n.2272G>A | ClinVar dbSNP |
7 | g.114662075G= | CA1736047853 | FOXP2 | c.1709G= (p.Arg570=) c.1649G= (p.Arg550=) c.1658G= (p.Arg553=) c.1784G= (p.Arg595=) c.1103G= (p.Arg368=) c.555G= c.*1452G= (n.*1452G=) c.1382G= (p.Arg461=) c.1595G= (p.Arg532=) c.1733G= (p.Arg578=) c.*1376G= (n.*1376G=) c.*1658G= (n.*1658G=) c.1607G= (p.Arg536=) c.1598G= (p.Arg533=) n.133G= c.*1455G= (n.*1455G=) c.1661G= (p.Arg554=) c.1655G= (p.Arg552=) n.2043G= n.2090G= c.1802G= (p.Arg601=) n.2026G= n.2272G= | dbSNP |