| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.31667290A>T | CA410037439 | SOD1 | c.272A>T (p.Asp91Val) c.215A>T (p.Asp72Val) n.1200A>T n.535A>T | ClinVar dbSNP |
| 21 | g.31667290A>C | CA124296 | SOD1 | c.272A>C (p.Asp91Ala) c.215A>C (p.Asp72Ala) n.1200A>C n.535A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.31667290A= | CA2385880417 | SOD1 | c.272A= (p.Asp91=) c.215A= (p.Asp72=) n.1200A= n.535A= | dbSNP |