| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32699219G>A | CA341043 | DMD | c.355C>T (p.Gln119Ter) n.909C>T n.931C>T c.724C>T (p.Gln242Ter) c.700C>T (p.Gln234Ter) c.712C>T (p.Gln238Ter) c.93+320920C>T (n.93+320920C>T) c.246+124076C>T (n.246+124076C>T) n.86+117249C>T n.335+320920C>T | ClinVar dbSNP |
| X | g.32699219G>C | CA412669023 | DMD | c.355C>G (p.Gln119Glu) n.909C>G n.931C>G c.724C>G (p.Gln242Glu) c.700C>G (p.Gln234Glu) c.712C>G (p.Gln238Glu) c.93+320920C>G (n.93+320920C>G) c.246+124076C>G (n.246+124076C>G) n.86+117249C>G n.335+320920C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |