| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32491415A>T | CA412672516 | DMD | n.2691T>A c.2484T>A (p.Tyr828Ter) c.2472T>A (p.Tyr824Ter) c.94-126216T>A (n.94-126216T>A) c.94-126705T>A (n.94-126705T>A) n.336-274352T>A c.2460T>A (p.Tyr820Ter) c.2115T>A (p.Tyr705Ter) c.2355T>A (p.Tyr785Ter) | dbSNP |
| X | g.32491415A>G | CA515720033 | DMD | n.2691T>C c.2484T>C (p.Tyr828=) c.2472T>C (p.Tyr824=) c.94-126216T>C (n.94-126216T>C) c.94-126705T>C (n.94-126705T>C) n.336-274352T>C c.2460T>C (p.Tyr820=) c.2115T>C (p.Tyr705=) c.2355T>C (p.Tyr785=) | ClinVar dbSNP COSMIC COSMIC |
| X | g.32491415A>C | CA273316 | DMD | n.2691T>G c.2484T>G (p.Tyr828Ter) c.2472T>G (p.Tyr824Ter) c.94-126216T>G (n.94-126216T>G) c.94-126705T>G (n.94-126705T>G) n.336-274352T>G c.2460T>G (p.Tyr820Ter) c.2115T>G (p.Tyr705Ter) c.2355T>G (p.Tyr785Ter) | ClinVar dbSNP |
| X | g.32491415A= | CA2422828591 | DMD | n.2691T= c.2484T= (p.Tyr828=) c.2472T= (p.Tyr824=) c.94-126216T= (n.94-126216T=) c.94-126705T= (n.94-126705T=) n.336-274352T= c.2460T= (p.Tyr820=) c.2115T= (p.Tyr705=) c.2355T= (p.Tyr785=) | dbSNP |