Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.136822785C>T | CA148640688 | PEX7 | c.120C>T (p.Tyr40=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136822785C>A | CA365855441 | PEX7 | c.120C>A (p.Tyr40Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136822785C>G | CA119075 | PEX7 | c.120C>G (p.Tyr40Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |