Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.210640045G>T | CA2086804 | CPS1 | c.2945G>T (p.Gly982Val) c.2963G>T (p.Gly988Val) c.1592G>T (p.Gly531Val) c.1425G>T n.2090G>T n.317G>T c.2978G>T (p.Gly993Val) n.3854G>T n.2101G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.210640045G>C | CA350432633 | CPS1 | c.2945G>C (p.Gly982Ala) c.2963G>C (p.Gly988Ala) c.1592G>C (p.Gly531Ala) c.1425G>C n.2090G>C n.317G>C c.2978G>C (p.Gly993Ala) n.3854G>C n.2101G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.210640045G>A | CA115537 | CPS1 | c.2945G>A (p.Gly982Asp) c.2963G>A (p.Gly988Asp) c.1592G>A (p.Gly531Asp) c.1425G>A n.2090G>A n.317G>A c.2978G>A (p.Gly993Asp) n.3854G>A n.2101G>A | ClinVar dbSNP gnomAD v4 |