| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.159692840A>G | CA124294 | SOD2 | c.47T>C (p.Val16Ala) c.-92T>C (n.-92T>C) c.116T>C (p.Val39Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.159692840A= | CA1630834632 | SOD2 | c.47T= (p.Val16=) c.-92T= (n.-92T=) c.116T= (p.Val39=) | dbSNP |
| 6 | g.159692840A>T | CA366296623 | SOD2 | c.47T>A (p.Val16Asp) c.-92T>A (n.-92T>A) c.116T>A (p.Val39Asp) | dbSNP gnomAD v4 |
| 6 | g.159692840A>C | CA366296620 | SOD2 | c.47T>G (p.Val16Gly) c.-92T>G (n.-92T>G) c.116T>G (p.Val39Gly) | dbSNP gnomAD v3 gnomAD v4 |