| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32491344C>T | CA16621364 | DMD | n.2762G>A c.2555G>A (p.Trp852Ter) c.2543G>A (p.Trp848Ter) c.94-126145G>A (n.94-126145G>A) c.94-126634G>A (n.94-126634G>A) n.336-274281G>A c.2531G>A (p.Trp844Ter) c.2186G>A (p.Trp729Ter) c.2426G>A (p.Trp809Ter) | ClinVar dbSNP |
| X | g.32491344C>A | CA412672074 | DMD | n.2762G>T c.2555G>T (p.Trp852Leu) c.2543G>T (p.Trp848Leu) c.94-126145G>T (n.94-126145G>T) c.94-126634G>T (n.94-126634G>T) n.336-274281G>T c.2531G>T (p.Trp844Leu) c.2186G>T (p.Trp729Leu) c.2426G>T (p.Trp809Leu) | dbSNP gnomAD v2 gnomAD v4 |