| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996612A>C | CA225413 | MAPT | c.683A>C (p.Lys228Thr) c.596A>C (p.Lys199Thr) c.770A>C (p.Lys257Thr) n.634A>C n.2A>C c.1946A>C (p.Lys649Thr) c.1748A>C (p.Lys583Thr) c.1721A>C (p.Lys574Thr) c.1775A>C (p.Lys592Thr) n.724A>C n.6055A>C c.2033A>C (p.Lys678Thr) c.1859A>C (p.Lys620Thr) c.1835A>C (p.Lys612Thr) c.968A>C (p.Lys323Thr) c.881A>C (p.Lys294Thr) c.794A>C (p.Lys265Thr) n.694A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.45996612A= | CA2262095034 | MAPT | c.683A= (p.Lys228=) c.596A= (p.Lys199=) c.770A= (p.Lys257=) n.634A= n.2A= c.1946A= (p.Lys649=) c.1748A= (p.Lys583=) c.1721A= (p.Lys574=) c.1775A= (p.Lys592=) n.724A= n.6055A= c.2033A= (p.Lys678=) c.1859A= (p.Lys620=) c.1835A= (p.Lys612=) c.968A= (p.Lys323=) c.881A= (p.Lys294=) c.794A= (p.Lys265=) n.694A= | dbSNP |