| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22255403C>T | CA5923181 | ANO5 | n.533C>T c.763C>T (p.Gln255Ter) c.1171C>T (p.Gln391Ter) c.*1145C>T (n.*1145C>T) n.2207C>T n.1413C>T c.1168C>T (p.Gln390Ter) c.1213C>T (p.Gln405Ter) n.1548C>T c.1210C>T (p.Gln404Ter) c.1135C>T (p.Gln379Ter) c.1132C>T (p.Gln378Ter) c.1120C>T (p.Gln374Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22255403C= | CA1957416918 | ANO5 | n.533C= c.763C= (p.Gln255=) c.1171C= (p.Gln391=) c.*1145C= (n.*1145C=) n.2207C= n.1413C= c.1168C= (p.Gln390=) c.1213C= (p.Gln405=) n.1548C= c.1210C= (p.Gln404=) c.1135C= (p.Gln379=) c.1132C= (p.Gln378=) c.1120C= (p.Gln374=) | dbSNP |