| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23341546G>T | CA16041647 | SACS | c.2185+12239C>A (n.2185+12239C>A) c.2357C>A (p.Ser786Ter) c.2321C>A (p.Ser774Ter) c.2177-12062C>A (n.2177-12062C>A) c.2291+39C>A (n.2291+39C>A) c.2318+39C>A (n.2318+39C>A) c.2203+5265C>A (n.2203+5265C>A) n.4543-12062C>A c.2220+5265C>A (n.2220+5265C>A) c.2330C>A (p.Ser777Ter) c.2186-12062C>A (n.2186-12062C>A) c.80C>A (p.Ser27Ter) c.1058-12062C>A (n.1058-12062C>A) c.2028C>A c.1889C>A (p.Ser630Ter) c.2381C>A (p.Ser794Ter) c.2348C>A (p.Ser783Ter) | ClinVar dbSNP |
| 13 | g.23341546G= | CA2078644732 | SACS | c.2185+12239C= (n.2185+12239C=) c.2357C= (p.Ser786=) c.2321C= (p.Ser774=) c.2177-12062C= (n.2177-12062C=) c.2291+39C= (n.2291+39C=) c.2318+39C= (n.2318+39C=) c.2203+5265C= (n.2203+5265C=) n.4543-12062C= c.2220+5265C= (n.2220+5265C=) c.2330C= (p.Ser777=) c.2186-12062C= (n.2186-12062C=) c.80C= (p.Ser27=) c.1058-12062C= (n.1058-12062C=) c.2028C= c.1889C= (p.Ser630=) c.2381C= (p.Ser794=) c.2348C= (p.Ser783=) | dbSNP |