| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23338751G>A | CA16041633 | SACS | c.2185+15034C>T (n.2185+15034C>T) c.5152C>T (p.Gln1718Ter) c.5116C>T (p.Gln1706Ter) c.2177-9267C>T (n.2177-9267C>T) c.2291+2834C>T (n.2291+2834C>T) c.2318+2834C>T (n.2318+2834C>T) c.2203+8060C>T (n.2203+8060C>T) n.4543-9267C>T c.2220+8060C>T (n.2220+8060C>T) c.5125C>T (p.Gln1709Ter) c.2186-9267C>T (n.2186-9267C>T) c.2431+2694C>T (n.2431+2694C>T) c.2875C>T (p.Gln959Ter) c.1058-9267C>T (n.1058-9267C>T) c.2129+2694C>T c.4684C>T (p.Gln1562Ter) c.5176C>T (p.Gln1726Ter) c.5143C>T (p.Gln1715Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23338751G= | CA2078630119 | SACS | c.2185+15034C= (n.2185+15034C=) c.5152C= (p.Gln1718=) c.5116C= (p.Gln1706=) c.2177-9267C= (n.2177-9267C=) c.2291+2834C= (n.2291+2834C=) c.2318+2834C= (n.2318+2834C=) c.2203+8060C= (n.2203+8060C=) n.4543-9267C= c.2220+8060C= (n.2220+8060C=) c.5125C= (p.Gln1709=) c.2186-9267C= (n.2186-9267C=) c.2431+2694C= (n.2431+2694C=) c.2875C= (p.Gln959=) c.1058-9267C= (n.1058-9267C=) c.2129+2694C= c.4684C= (p.Gln1562=) c.5176C= (p.Gln1726=) c.5143C= (p.Gln1715=) | dbSNP |