| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32485077T>G | CA412671094 | DMD | n.2852A>C c.2645A>C (p.Asp882Ala) c.2633A>C (p.Asp878Ala) c.94-119878A>C (n.94-119878A>C) c.94-120367A>C (n.94-120367A>C) n.336-268014A>C c.2621A>C (p.Asp874Ala) c.2516A>C (p.Asp839Ala) | dbSNP |
| X | g.32485077T>A | CA412671092 | DMD | n.2852A>T c.2645A>T (p.Asp882Val) c.2633A>T (p.Asp878Val) c.94-119878A>T (n.94-119878A>T) c.94-120367A>T (n.94-120367A>T) n.336-268014A>T c.2621A>T (p.Asp874Val) c.2516A>T (p.Asp839Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32485077T>C | CA179863 | DMD | n.2852A>G c.2645A>G (p.Asp882Gly) c.2633A>G (p.Asp878Gly) c.94-119878A>G (n.94-119878A>G) c.94-120367A>G (n.94-120367A>G) n.336-268014A>G c.2621A>G (p.Asp874Gly) c.2516A>G (p.Asp839Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32485077T= | CA290637 | DMD | n.2852A= c.2645A= (p.Asp882=) c.2633A= (p.Asp878=) c.94-119878A= (n.94-119878A=) c.94-120367A= (n.94-120367A=) n.336-268014A= c.2621A= (p.Asp874=) c.2516A= (p.Asp839=) | dbSNP |