| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32438312C>A | CA347462 | DMD | c.4000G>T (p.Gly1334Ter) c.3988G>T (p.Gly1330Ter) c.94-73113G>T (n.94-73113G>T) c.94-73602G>T (n.94-73602G>T) n.336-221249G>T c.3976G>T (p.Gly1326Ter) c.3631G>T (p.Gly1211Ter) c.3871G>T (p.Gly1291Ter) | ClinVar dbSNP |
| X | g.32438312C>T | CA10379134 | DMD | c.4000G>A (p.Gly1334Arg) c.3988G>A (p.Gly1330Arg) c.94-73113G>A (n.94-73113G>A) c.94-73602G>A (n.94-73602G>A) n.336-221249G>A c.3976G>A (p.Gly1326Arg) c.3631G>A (p.Gly1211Arg) c.3871G>A (p.Gly1291Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |