| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46014286C>T | CA225475 | MAPT | c.872C>T (p.Ser291Phe) c.785C>T (p.Ser262Phe) c.959C>T (p.Ser320Phe) n.730C>T n.185C>T n.128C>T c.2135C>T (p.Ser712Phe) c.1844C>T (p.Ser615Phe) c.779C>T (p.Ser260Phe) c.1910C>T (p.Ser637Phe) c.692C>T (p.Ser231Phe) c.1964C>T (p.Ser655Phe) c.866C>T (p.Ser289Phe) n.777-4332C>T n.6151C>T c.2222C>T (p.Ser741Phe) c.2129C>T (p.Ser710Phe) c.2048C>T (p.Ser683Phe) c.2024C>T (p.Ser675Phe) c.1931C>T (p.Ser644Phe) c.1157C>T (p.Ser386Phe) c.1070C>T (p.Ser357Phe) c.983C>T (p.Ser328Phe) c.771+8C>T (n.771+8C>T) n.790C>T | ClinVar dbSNP |
| 17 | g.46014286C= | CA2262102719 | MAPT | c.872C= (p.Ser291=) c.785C= (p.Ser262=) c.959C= (p.Ser320=) n.730C= n.185C= n.128C= c.2135C= (p.Ser712=) c.1844C= (p.Ser615=) c.779C= (p.Ser260=) c.1910C= (p.Ser637=) c.692C= (p.Ser231=) c.1964C= (p.Ser655=) c.866C= (p.Ser289=) n.777-4332C= n.6151C= c.2222C= (p.Ser741=) c.2129C= (p.Ser710=) c.2048C= (p.Ser683=) c.2024C= (p.Ser675=) c.1931C= (p.Ser644=) c.1157C= (p.Ser386=) c.1070C= (p.Ser357=) c.983C= (p.Ser328=) c.771+8C= (n.771+8C=) n.790C= | dbSNP |