| 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 |
| 5 | g.70951941G>C | CA360098099 | SMN1 | c.835G>C (p.Gly279Arg) c.739G>C (p.Gly247Arg) c.835-498G>C (n.835-498G>C) c.*59-498G>C (n.*59-498G>C) n.89G>C c.634G>C (p.Gly212Arg) c.538G>C (p.Gly180Arg) c.739-498G>C (n.739-498G>C) | ClinVar dbSNP |
| 5 | g.70951941G= | CA1554174114 | SMN1 | c.835G= (p.Gly279=) c.739G= (p.Gly247=) c.835-498G= (n.835-498G=) c.*59-498G= (n.*59-498G=) n.89G= c.634G= (p.Gly212=) c.538G= (p.Gly180=) c.739-498G= (n.739-498G=) | dbSNP |