Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.33401862C>G | CA405224796 | PEPD | c.826G>C (p.Asp276His) c.781G>C (p.Asp261His) c.877G>C (p.Asp293His) n.889G>C c.505G>C (p.Asp169His) c.868G>C (p.Asp290His) n.709G>C c.1076G>C c.563G>C (n.563G>C) c.635G>C n.288G>C n.313G>C c.514G>C (p.Asp172His) c.815G>C n.501G>C c.822G>C c.703G>C (p.Asp235His) c.634G>C (p.Asp212His) c.317G>C n.461G>C n.991G>C c.259G>C (p.Asp87His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401862C>T | CA214908 | PEPD | c.826G>A (p.Asp276Asn) c.781G>A (p.Asp261Asn) c.877G>A (p.Asp293Asn) n.889G>A c.505G>A (p.Asp169Asn) c.868G>A (p.Asp290Asn) n.709G>A c.1076G>A c.563G>A (n.563G>A) c.635G>A n.288G>A n.313G>A c.514G>A (p.Asp172Asn) c.815G>A n.501G>A c.822G>A c.703G>A (p.Asp235Asn) c.634G>A (p.Asp212Asn) c.317G>A n.461G>A n.991G>A c.259G>A (p.Asp87Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |