Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.70951941G>A | CA360098095 | SMN1 | c.835G>A (p.Gly279Ser) c.739G>A (p.Gly247Ser) c.835-498G>A (n.835-498G>A) c.*59-498G>A (n.*59-498G>A) n.89G>A c.634G>A (p.Gly212Ser) c.538G>A (p.Gly180Ser) c.739-498G>A (n.739-498G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.70951941G>T | CA120725348 | SMN1 | c.835G>T (p.Gly279Cys) c.739G>T (p.Gly247Cys) c.835-498G>T (n.835-498G>T) c.*59-498G>T (n.*59-498G>T) n.89G>T c.634G>T (p.Gly212Cys) c.538G>T (p.Gly180Cys) c.739-498G>T (n.739-498G>T) | dbSNP gnomAD v2 gnomAD v4 |