| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018707G>A | CA225490 | MAPT | c.1000G>A (p.Val334Ile) c.913G>A (p.Val305Ile) c.1087G>A (p.Val363Ile) n.313G>A n.271G>A n.505G>A c.2263G>A (p.Val755Ile) c.1972G>A (p.Val658Ile) c.907G>A (p.Val303Ile) c.1036G>A (p.Val346Ile) c.2038G>A (p.Val680Ile) c.820G>A (p.Val274Ile) c.2092G>A (p.Val698Ile) c.994G>A (p.Val332Ile) n.866G>A n.6279G>A c.2350G>A (p.Val784Ile) c.2257G>A (p.Val753Ile) c.2176G>A (p.Val726Ile) c.2152G>A (p.Val718Ile) c.2059G>A (p.Val687Ile) c.1285G>A (p.Val429Ile) c.1198G>A (p.Val400Ile) c.1111G>A (p.Val371Ile) c.771+4429G>A (n.771+4429G>A) n.918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.46018707G= | CA2262104753 | MAPT | c.1000G= (p.Val334=) c.913G= (p.Val305=) c.1087G= (p.Val363=) n.313G= n.271G= n.505G= c.2263G= (p.Val755=) c.1972G= (p.Val658=) c.907G= (p.Val303=) c.1036G= (p.Val346=) c.2038G= (p.Val680=) c.820G= (p.Val274=) c.2092G= (p.Val698=) c.994G= (p.Val332=) n.866G= n.6279G= c.2350G= (p.Val784=) c.2257G= (p.Val753=) c.2176G= (p.Val726=) c.2152G= (p.Val718=) c.2059G= (p.Val687=) c.1285G= (p.Val429=) c.1198G= (p.Val400=) c.1111G= (p.Val371=) c.771+4429G= (n.771+4429G=) n.918G= | dbSNP |