Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.38403699G>A | CA224716 | OTC | c.622G>A (p.Ala208Thr) c.*372G>A (n.*372G>A) c.172-262422G>A (n.172-262422G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.38403699G>T | CA10385897 | OTC | c.622G>T (p.Ala208Ser) c.*372G>T (n.*372G>T) c.172-262422G>T (n.172-262422G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |