| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32348491G>C | CA273304 | DMD | c.209C>G (p.Ser70Ter) c.5363C>G (p.Ser1788Ter) c.1331C>G (p.Ser444Ter) c.5351C>G (p.Ser1784Ter) n.336-131428C>G c.20C>G (p.Ser7Ter) c.5339C>G (p.Ser1780Ter) c.4994C>G (p.Ser1665Ter) c.1340C>G (p.Ser447Ter) c.5234C>G (p.Ser1745Ter) c.5326-2411C>G (n.5326-2411C>G) | ClinVar dbSNP |
| X | g.32348491G>A | CA327985188 | DMD | c.209C>T (p.Ser70Leu) c.5363C>T (p.Ser1788Leu) c.1331C>T (p.Ser444Leu) c.5351C>T (p.Ser1784Leu) n.336-131428C>T c.20C>T (p.Ser7Leu) c.5339C>T (p.Ser1780Leu) c.4994C>T (p.Ser1665Leu) c.1340C>T (p.Ser447Leu) c.5234C>T (p.Ser1745Leu) c.5326-2411C>T (n.5326-2411C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32348491G>T | CA412667998 | DMD | c.209C>A (p.Ser70Ter) c.5363C>A (p.Ser1788Ter) c.1331C>A (p.Ser444Ter) c.5351C>A (p.Ser1784Ter) n.336-131428C>A c.20C>A (p.Ser7Ter) c.5339C>A (p.Ser1780Ter) c.4994C>A (p.Ser1665Ter) c.1340C>A (p.Ser447Ter) c.5234C>A (p.Ser1745Ter) c.5326-2411C>A (n.5326-2411C>A) | ClinVar dbSNP |