| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018675C>A | CA399983747 | MAPT | c.968C>A (p.Ser323Ter) c.881C>A (p.Ser294Ter) c.1055C>A (p.Ser352Ter) n.826C>A n.281C>A n.239C>A n.473C>A c.2231C>A (p.Ser744Ter) c.1940C>A (p.Ser647Ter) c.875C>A (p.Ser292Ter) c.1004C>A (p.Ser335Ter) c.2006C>A (p.Ser669Ter) c.788C>A (p.Ser263Ter) c.2060C>A (p.Ser687Ter) c.962C>A (p.Ser321Ter) n.834C>A n.6247C>A c.2318C>A (p.Ser773Ter) c.2225C>A (p.Ser742Ter) c.2144C>A (p.Ser715Ter) c.2120C>A (p.Ser707Ter) c.2027C>A (p.Ser676Ter) c.1253C>A (p.Ser418Ter) c.1166C>A (p.Ser389Ter) c.1079C>A (p.Ser360Ter) c.771+4397C>A (n.771+4397C>A) n.886C>A | dbSNP |
| 17 | g.46018675C>T | CA225487 | MAPT | c.968C>T (p.Ser323Leu) c.881C>T (p.Ser294Leu) c.1055C>T (p.Ser352Leu) n.826C>T n.281C>T n.239C>T n.473C>T c.2231C>T (p.Ser744Leu) c.1940C>T (p.Ser647Leu) c.875C>T (p.Ser292Leu) c.1004C>T (p.Ser335Leu) c.2006C>T (p.Ser669Leu) c.788C>T (p.Ser263Leu) c.2060C>T (p.Ser687Leu) c.962C>T (p.Ser321Leu) n.834C>T n.6247C>T c.2318C>T (p.Ser773Leu) c.2225C>T (p.Ser742Leu) c.2144C>T (p.Ser715Leu) c.2120C>T (p.Ser707Leu) c.2027C>T (p.Ser676Leu) c.1253C>T (p.Ser418Leu) c.1166C>T (p.Ser389Leu) c.1079C>T (p.Ser360Leu) c.771+4397C>T (n.771+4397C>T) n.886C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |