Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3229430G>A | CA250439 | SLC4A11 | c.1765C>T (p.Arg589Ter) c.1696C>T (p.Arg566Ter) c.1636C>T (p.Arg546Ter) c.1651C>T (p.Arg551Ter) c.1813C>T (p.Arg605Ter) c.1894C>T (p.Arg632Ter) c.1638C>T (p.Cys546=) n.276C>T c.2134C>T (p.Arg712Ter) c.1708C>T (p.Arg570Ter) c.1732C>T (p.Arg578Ter) c.2178C>T (p.Cys726=) n.1863C>T n.2358C>T n.2288C>T c.1780C>T (p.Arg594Ter) n.2338C>T n.2323C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3229430G>C | CA408087748 | SLC4A11 | c.1765C>G (p.Arg589Gly) c.1696C>G (p.Arg566Gly) c.1636C>G (p.Arg546Gly) c.1651C>G (p.Arg551Gly) c.1813C>G (p.Arg605Gly) c.1894C>G (p.Arg632Gly) c.1638C>G (p.Cys546Trp) n.276C>G c.2134C>G (p.Arg712Gly) c.1708C>G (p.Arg570Gly) c.1732C>G (p.Arg578Gly) c.2178C>G (p.Cys726Trp) n.1863C>G n.2358C>G n.2288C>G c.1780C>G (p.Arg594Gly) n.2338C>G n.2323C>G | dbSNP |