Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508981C>G | CA827807 | MMACHC | c.615C>G (p.Tyr205Ter) c.444C>G (p.Tyr148Ter) c.420C>G (p.Tyr140Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508981C>A | CA340133688 | MMACHC | c.615C>A (p.Tyr205Ter) c.444C>A (p.Tyr148Ter) c.420C>A (p.Tyr140Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508981C>T | CA827808 | MMACHC | c.615C>T (p.Tyr205=) c.444C>T (p.Tyr148=) c.420C>T (p.Tyr140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |