| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32485057G>A | CA16616505 | DMD | n.2872C>T c.2665C>T (p.Arg889Ter) c.2653C>T (p.Arg885Ter) c.94-119858C>T (n.94-119858C>T) c.94-120347C>T (n.94-120347C>T) n.336-267994C>T c.2641C>T (p.Arg881Ter) c.2296C>T (p.Arg766Ter) c.2536C>T (p.Arg846Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.32485057G>C | CA412671008 | DMD | n.2872C>G c.2665C>G (p.Arg889Gly) c.2653C>G (p.Arg885Gly) c.94-119858C>G (n.94-119858C>G) c.94-120347C>G (n.94-120347C>G) n.336-267994C>G c.2641C>G (p.Arg881Gly) c.2296C>G (p.Arg766Gly) c.2536C>G (p.Arg846Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32485057G>T | CA515718541 | DMD | n.2872C>A c.2665C>A (p.Arg889=) c.2653C>A (p.Arg885=) c.94-119858C>A (n.94-119858C>A) c.94-120347C>A (n.94-120347C>A) n.336-267994C>A c.2641C>A (p.Arg881=) c.2296C>A (p.Arg766=) c.2536C>A (p.Arg846=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |