| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262137C>A | CA473407214 | ANO5 | c.1189C>A (p.Arg397=) c.1597C>A (p.Arg533=) n.2633C>A c.1594C>A (p.Arg532=) c.1639C>A (p.Arg547=) n.1974C>A c.1636C>A (p.Arg546=) c.1561C>A (p.Arg521=) c.1558C>A (p.Arg520=) c.1546C>A (p.Arg516=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22262137C>T | CA5923315 | ANO5 | c.1189C>T (p.Arg397Ter) c.1597C>T (p.Arg533Ter) n.2633C>T c.1594C>T (p.Arg532Ter) c.1639C>T (p.Arg547Ter) n.1974C>T c.1636C>T (p.Arg546Ter) c.1561C>T (p.Arg521Ter) c.1558C>T (p.Arg520Ter) c.1546C>T (p.Arg516Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.22262137C>G | CA379922485 | ANO5 | c.1189C>G (p.Arg397Gly) c.1597C>G (p.Arg533Gly) n.2633C>G c.1594C>G (p.Arg532Gly) c.1639C>G (p.Arg547Gly) n.1974C>G c.1636C>G (p.Arg546Gly) c.1561C>G (p.Arg521Gly) c.1558C>G (p.Arg520Gly) c.1546C>G (p.Arg516Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |