Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22262231T>C | CA232785 | ANO5 | c.1283T>C (p.Phe428Ser) c.1691T>C (p.Phe564Ser) n.2727T>C c.1688T>C (p.Phe563Ser) c.1733T>C (p.Phe578Ser) n.2068T>C c.1730T>C (p.Phe577Ser) c.1655T>C (p.Phe552Ser) c.1652T>C (p.Phe551Ser) c.1640T>C (p.Phe547Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262231T= | CA1957419848 | ANO5 | c.1283T= (p.Phe428=) c.1691T= (p.Phe564=) n.2727T= c.1688T= (p.Phe563=) c.1733T= (p.Phe578=) n.2068T= c.1730T= (p.Phe577=) c.1655T= (p.Phe552=) c.1652T= (p.Phe551=) c.1640T= (p.Phe547=) | dbSNP |