Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.78984965C>G | CA360196403 | ARSB | c.284G>C (p.Arg95Pro) n.355G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.78984965C>T | CA114608 | ARSB | c.284G>A (p.Arg95Gln) n.355G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.78984965C>A | CA360196401 | ARSB | c.284G>T (p.Arg95Leu) n.355G>T | ClinVar dbSNP gnomAD v4 |