Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32484967T>A | CA273313 | DMD | n.2962A>T c.2755A>T (p.Lys919Ter) c.2743A>T (p.Lys915Ter) c.94-119768A>T (n.94-119768A>T) c.94-120257A>T (n.94-120257A>T) n.336-267904A>T c.2731A>T (p.Lys911Ter) c.2386A>T (p.Lys796Ter) c.2626A>T (p.Lys876Ter) | ClinVar dbSNP |
X | g.32484967T= | CA2422825748 | DMD | n.2962A= c.2755A= (p.Lys919=) c.2743A= (p.Lys915=) c.94-119768A= (n.94-119768A=) c.94-120257A= (n.94-120257A=) n.336-267904A= c.2731A= (p.Lys911=) c.2386A= (p.Lys796=) c.2626A= (p.Lys876=) | dbSNP |