| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32343226T>A | CA16616669 | DMD | c.493A>T (p.Lys165Ter) c.5647A>T (p.Lys1883Ter) c.1615A>T (p.Lys539Ter) c.5635A>T (p.Lys1879Ter) n.336-126163A>T c.304A>T (p.Lys102Ter) c.5623A>T (p.Lys1875Ter) c.5278A>T (p.Lys1760Ter) c.1624A>T (p.Lys542Ter) c.5518A>T (p.Lys1840Ter) c.5509A>T (p.Lys1837Ter) c.5524A>T (p.Lys1842Ter) | ClinVar dbSNP |
| X | g.32343226T= | CA2422760818 | DMD | c.493A= (p.Lys165=) c.5647A= (p.Lys1883=) c.1615A= (p.Lys539=) c.5635A= (p.Lys1879=) n.336-126163A= c.304A= (p.Lys102=) c.5623A= (p.Lys1875=) c.5278A= (p.Lys1760=) c.1624A= (p.Lys542=) c.5518A= (p.Lys1840=) c.5509A= (p.Lys1837=) c.5524A= (p.Lys1842=) | dbSNP |
| X | g.32343226T>G | CA412666076 | DMD | c.493A>C (p.Lys165Gln) c.5647A>C (p.Lys1883Gln) c.1615A>C (p.Lys539Gln) c.5635A>C (p.Lys1879Gln) n.336-126163A>C c.304A>C (p.Lys102Gln) c.5623A>C (p.Lys1875Gln) c.5278A>C (p.Lys1760Gln) c.1624A>C (p.Lys542Gln) c.5518A>C (p.Lys1840Gln) c.5509A>C (p.Lys1837Gln) c.5524A>C (p.Lys1842Gln) | dbSNP |
| X | g.32343226T>C | CA412666073 | DMD | c.493A>G (p.Lys165Glu) c.5647A>G (p.Lys1883Glu) c.1615A>G (p.Lys539Glu) c.5635A>G (p.Lys1879Glu) n.336-126163A>G c.304A>G (p.Lys102Glu) c.5623A>G (p.Lys1875Glu) c.5278A>G (p.Lys1760Glu) c.1624A>G (p.Lys542Glu) c.5518A>G (p.Lys1840Glu) c.5509A>G (p.Lys1837Glu) c.5524A>G (p.Lys1842Glu) | dbSNP gnomAD v4 |