| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46010375T>C | CA225434 | MAPT | c.801T>C (p.Asn267=) c.714T>C (p.Asn238=) c.888T>C (p.Asn296=) n.687-3868T>C n.114T>C n.57T>C c.2064T>C (p.Asn688=) c.1801-3868T>C (n.1801-3868T>C) c.736-3868T>C (n.736-3868T>C) c.1839T>C (p.Asn613=) c.649-3868T>C (n.649-3868T>C) c.1893T>C (p.Asn631=) c.823-3868T>C (n.823-3868T>C) n.777-8243T>C n.6108-3868T>C c.2151T>C (p.Asn717=) c.2086-3868T>C (n.2086-3868T>C) c.1977T>C (p.Asn659=) c.1953T>C (p.Asn651=) c.1888-3868T>C (n.1888-3868T>C) c.1086T>C (p.Asn362=) c.999T>C (p.Asn333=) c.912T>C (p.Asn304=) n.747-3868T>C | ClinVar dbSNP |
| 17 | g.46010375T= | CA2262101004 | MAPT | c.801T= (p.Asn267=) c.714T= (p.Asn238=) c.888T= (p.Asn296=) n.687-3868T= n.114T= n.57T= c.2064T= (p.Asn688=) c.1801-3868T= (n.1801-3868T=) c.736-3868T= (n.736-3868T=) c.1839T= (p.Asn613=) c.649-3868T= (n.649-3868T=) c.1893T= (p.Asn631=) c.823-3868T= (n.823-3868T=) n.777-8243T= n.6108-3868T= c.2151T= (p.Asn717=) c.2086-3868T= (n.2086-3868T=) c.1977T= (p.Asn659=) c.1953T= (p.Asn651=) c.1888-3868T= (n.1888-3868T=) c.1086T= (p.Asn362=) c.999T= (p.Asn333=) c.912T= (p.Asn304=) n.747-3868T= | dbSNP |