| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32348504C>T | CA10378709 | DMD | c.196G>A (p.Glu66Lys) c.5350G>A (p.Glu1784Lys) c.1318G>A (p.Glu440Lys) c.5338G>A (p.Glu1780Lys) n.336-131441G>A c.7G>A (p.Glu3Lys) c.5326G>A (p.Glu1776Lys) c.4981G>A (p.Glu1661Lys) c.1327G>A (p.Glu443Lys) c.5221G>A (p.Glu1741Lys) c.5326-2424G>A (n.5326-2424G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32348504C>G | CA412668066 | DMD | c.196G>C (p.Glu66Gln) c.5350G>C (p.Glu1784Gln) c.1318G>C (p.Glu440Gln) c.5338G>C (p.Glu1780Gln) n.336-131441G>C c.7G>C (p.Glu3Gln) c.5326G>C (p.Glu1776Gln) c.4981G>C (p.Glu1661Gln) c.1327G>C (p.Glu443Gln) c.5221G>C (p.Glu1741Gln) c.5326-2424G>C (n.5326-2424G>C) | dbSNP gnomAD v4 |
| X | g.32348504C>A | CA347488 | DMD | c.196G>T (p.Glu66Ter) c.5350G>T (p.Glu1784Ter) c.1318G>T (p.Glu440Ter) c.5338G>T (p.Glu1780Ter) n.336-131441G>T c.7G>T (p.Glu3Ter) c.5326G>T (p.Glu1776Ter) c.4981G>T (p.Glu1661Ter) c.1327G>T (p.Glu443Ter) c.5221G>T (p.Glu1741Ter) c.5326-2424G>T (n.5326-2424G>T) | ClinVar dbSNP |
| X | g.32348504C= | CA2422762996 | DMD | c.196G= (p.Glu66=) c.5350G= (p.Glu1784=) c.1318G= (p.Glu440=) c.5338G= (p.Glu1780=) n.336-131441G= c.7G= (p.Glu3=) c.5326G= (p.Glu1776=) c.4981G= (p.Glu1661=) c.1327G= (p.Glu443=) c.5221G= (p.Glu1741=) c.5326-2424G= (n.5326-2424G=) | dbSNP |