| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.44584057G>A | CA339870 | SPG11 | c.5623C>T (p.Gln1875Ter) n.1851C>T c.5479C>T (p.Gln1827Ter) c.*1880C>T (n.*1880C>T) c.*2115C>T (n.*2115C>T) c.5422C>T (p.Gln1808Ter) c.*2386C>T (n.*2386C>T) n.4669C>T c.*2043C>T (n.*2043C>T) c.5515+108C>T (n.5515+108C>T) c.471C>T c.287+108C>T c.5365C>T (p.Gln1789Ter) c.2500C>T (p.Gln834Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.44584057G= | CA2173694807 | SPG11 | c.5623C= (p.Gln1875=) n.1851C= c.5479C= (p.Gln1827=) c.*1880C= (n.*1880C=) c.*2115C= (n.*2115C=) c.5422C= (p.Gln1808=) c.*2386C= (n.*2386C=) n.4669C= c.*2043C= (n.*2043C=) c.5515+108C= (n.5515+108C=) c.471C= c.287+108C= c.5365C= (p.Gln1789=) c.2500C= (p.Gln834=) | dbSNP |