| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262207C>T | CA5923325 | ANO5 | c.1259C>T (p.Ser420Leu) c.1667C>T (p.Ser556Leu) n.2703C>T c.1664C>T (p.Ser555Leu) c.1709C>T (p.Ser570Leu) n.2044C>T c.1706C>T (p.Ser569Leu) c.1631C>T (p.Ser544Leu) c.1628C>T (p.Ser543Leu) c.1616C>T (p.Ser539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262207C>G | CA201303 | ANO5 | c.1259C>G (p.Ser420Ter) c.1667C>G (p.Ser556Ter) n.2703C>G c.1664C>G (p.Ser555Ter) c.1709C>G (p.Ser570Ter) n.2044C>G c.1706C>G (p.Ser569Ter) c.1631C>G (p.Ser544Ter) c.1628C>G (p.Ser543Ter) c.1616C>G (p.Ser539Ter) | ClinVar dbSNP |