Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32484925G>A | CA347495 | DMD | n.3004C>T c.2797C>T (p.Gln933Ter) c.2785C>T (p.Gln929Ter) c.94-119726C>T (n.94-119726C>T) c.94-120215C>T (n.94-120215C>T) n.336-267862C>T c.2773C>T (p.Gln925Ter) c.2428C>T (p.Gln810Ter) c.2668C>T (p.Gln890Ter) | ClinVar dbSNP |
X | g.32484925G>T | CA10379440 | DMD | n.3004C>A c.2797C>A (p.Gln933Lys) c.2785C>A (p.Gln929Lys) c.94-119726C>A (n.94-119726C>A) c.94-120215C>A (n.94-120215C>A) n.336-267862C>A c.2773C>A (p.Gln925Lys) c.2428C>A (p.Gln810Lys) c.2668C>A (p.Gln890Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.32484925G>C | CA412670646 | DMD | n.3004C>G c.2797C>G (p.Gln933Glu) c.2785C>G (p.Gln929Glu) c.94-119726C>G (n.94-119726C>G) c.94-120215C>G (n.94-120215C>G) n.336-267862C>G c.2773C>G (p.Gln925Glu) c.2428C>G (p.Gln810Glu) c.2668C>G (p.Gln890Glu) | dbSNP |