| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70951942G>T | CA254679 | SMN1 | c.836G>T (p.Gly279Val) c.740G>T (p.Gly247Val) c.835-497G>T (n.835-497G>T) c.*59-497G>T (n.*59-497G>T) n.90G>T c.635G>T (p.Gly212Val) c.539G>T (p.Gly180Val) c.739-497G>T (n.739-497G>T) | ClinVar dbSNP |
| 5 | g.70951942G>A | CA360098107 | SMN1 | c.836G>A (p.Gly279Asp) c.740G>A (p.Gly247Asp) c.835-497G>A (n.835-497G>A) c.*59-497G>A (n.*59-497G>A) n.90G>A c.635G>A (p.Gly212Asp) c.539G>A (p.Gly180Asp) c.739-497G>A (n.739-497G>A) | ClinVar dbSNP |