| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.74361886C>T | CA116686 | GDAP1 | c.487C>T (p.Gln163Ter) c.355C>T (p.Gln119Ter) n.598C>T n.343C>T c.*159C>T (n.*159C>T) c.165+10565C>T (n.165+10565C>T) c.166-1053C>T (n.166-1053C>T) c.160C>T (p.Gln54Ter) c.283C>T (p.Gln95Ter) c.*175C>T (n.*175C>T) c.181C>T (p.Gln61Ter) c.*152C>T (n.*152C>T) c.168C>T (p.Ala56=) c.120C>T (p.Ala40=) n.304C>T n.554C>T c.313C>T (p.Gln105Ter) c.*389C>T (n.*389C>T) c.439C>T (p.Gln147Ter) n.252C>T n.293C>T n.331C>T n.421C>T c.781C>T (p.Gln261Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.74361886C= | CA1794116612 | GDAP1 | c.487C= (p.Gln163=) c.355C= (p.Gln119=) n.598C= n.343C= c.*159C= (n.*159C=) c.165+10565C= (n.165+10565C=) c.166-1053C= (n.166-1053C=) c.160C= (p.Gln54=) c.283C= (p.Gln95=) c.*175C= (n.*175C=) c.181C= (p.Gln61=) c.*152C= (n.*152C=) c.168C= (p.Ala56=) c.120C= (p.Ala40=) n.304C= n.554C= c.313C= (p.Gln105=) c.*389C= (n.*389C=) c.439C= (p.Gln147=) n.252C= n.293C= n.331C= n.421C= c.781C= (p.Gln261=) | dbSNP |
| 8 | g.74361886C>A | CA371548981 | GDAP1 | c.487C>A (p.Gln163Lys) c.355C>A (p.Gln119Lys) n.598C>A n.343C>A c.*159C>A (n.*159C>A) c.165+10565C>A (n.165+10565C>A) c.166-1053C>A (n.166-1053C>A) c.160C>A (p.Gln54Lys) c.283C>A (p.Gln95Lys) c.*175C>A (n.*175C>A) c.181C>A (p.Gln61Lys) c.*152C>A (n.*152C>A) c.168C>A (p.Ala56=) c.120C>A (p.Ala40=) n.304C>A n.554C>A c.313C>A (p.Gln105Lys) c.*389C>A (n.*389C>A) c.439C>A (p.Gln147Lys) n.252C>A n.293C>A n.331C>A n.421C>A c.781C>A (p.Gln261Lys) | dbSNP gnomAD v4 |