Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32411772G>A | CA341064 | DMD | c.4213C>T (p.Gln1405Ter) c.181C>T (p.Gln61Ter) c.4201C>T (p.Gln1401Ter) c.94-46573C>T (n.94-46573C>T) c.94-47062C>T (n.94-47062C>T) n.336-194709C>T c.4189C>T (p.Gln1397Ter) c.3844C>T (p.Gln1282Ter) c.190C>T (p.Gln64Ter) c.4084C>T (p.Gln1362Ter) | ClinVar dbSNP |
X | g.32411772G>C | CA412666066 | DMD | c.4213C>G (p.Gln1405Glu) c.181C>G (p.Gln61Glu) c.4201C>G (p.Gln1401Glu) c.94-46573C>G (n.94-46573C>G) c.94-47062C>G (n.94-47062C>G) n.336-194709C>G c.4189C>G (p.Gln1397Glu) c.3844C>G (p.Gln1282Glu) c.190C>G (p.Gln64Glu) c.4084C>G (p.Gln1362Glu) | dbSNP gnomAD v4 |