Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.31659782G>A | CA257337 | SOD1 | c.13G>A (p.Ala5Thr) n.74G>A n.90G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.31659782G>T | CA410035885 | SOD1 | c.13G>T (p.Ala5Ser) n.74G>T n.90G>T | ClinVar dbSNP |
21 | g.31659782G= | CA2385876559 | SOD1 | c.13G= (p.Ala5=) n.74G= n.90G= | dbSNP |