| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55021121T>A | CA121085 | ALAS2 | c.353A>T (p.Asp118Val) c.242A>T (p.Asp81Val) c.305-617A>T (n.305-617A>T) c.569A>T (p.Asp190Val) c.458A>T (p.Asp153Val) c.530A>T (p.Asp177Val) c.424A>T n.356-617A>T n.313A>T n.509A>T c.641A>T (p.Asp214Val) c.-223-617A>T (n.-223-617A>T) | ClinVar dbSNP |
| X | g.55021121T= | CA2430392622 | ALAS2 | c.353A= (p.Asp118=) c.242A= (p.Asp81=) c.305-617A= (n.305-617A=) c.569A= (p.Asp190=) c.458A= (p.Asp153=) c.530A= (p.Asp177=) c.424A= n.356-617A= n.313A= n.509A= c.641A= (p.Asp214=) c.-223-617A= (n.-223-617A=) | dbSNP |