| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46010324T>G | CA225424 | MAPT | c.750T>G (p.Asn250Lys) c.663T>G (p.Asn221Lys) c.837T>G (p.Asn279Lys) n.687-3919T>G n.63T>G n.6T>G c.2013T>G (p.Asn671Lys) c.1801-3919T>G (n.1801-3919T>G) c.736-3919T>G (n.736-3919T>G) c.1788T>G (p.Asn596Lys) c.649-3919T>G (n.649-3919T>G) c.1842T>G (p.Asn614Lys) c.823-3919T>G (n.823-3919T>G) n.777-8294T>G n.6108-3919T>G c.2100T>G (p.Asn700Lys) c.2086-3919T>G (n.2086-3919T>G) c.1926T>G (p.Asn642Lys) c.1902T>G (p.Asn634Lys) c.1888-3919T>G (n.1888-3919T>G) c.1035T>G (p.Asn345Lys) c.948T>G (p.Asn316Lys) c.861T>G (p.Asn287Lys) n.747-3919T>G | ClinVar dbSNP |
| 17 | g.46010324T= | CA2262100986 | MAPT | c.750T= (p.Asn250=) c.663T= (p.Asn221=) c.837T= (p.Asn279=) n.687-3919T= n.63T= n.6T= c.2013T= (p.Asn671=) c.1801-3919T= (n.1801-3919T=) c.736-3919T= (n.736-3919T=) c.1788T= (p.Asn596=) c.649-3919T= (n.649-3919T=) c.1842T= (p.Asn614=) c.823-3919T= (n.823-3919T=) n.777-8294T= n.6108-3919T= c.2100T= (p.Asn700=) c.2086-3919T= (n.2086-3919T=) c.1926T= (p.Asn642=) c.1902T= (p.Asn634=) c.1888-3919T= (n.1888-3919T=) c.1035T= (p.Asn345=) c.948T= (p.Asn316=) c.861T= (p.Asn287=) n.747-3919T= | dbSNP |