Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980515del | CA16040993 | SLC26A2 | c.922del (p.Ser308AlafsTer?) c.372+2164del (n.372+2164del) | ClinVar dbSNP |
5 | g.149980515A= | CA3124061283 | SLC26A2 | c.922A= (p.Ser308=) c.372+2164A= (n.372+2164A=) | dbSNP |