Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490804C>A | CA117126 | AIP | c.1111C>A c.615C>A (p.Tyr205Ter) n.1646C>A c.469-193C>A (n.469-193C>A) c.435C>A (p.Tyr145Ter) c.804C>A (p.Tyr268Ter) c.796C>A (p.Leu266Ile) c.627C>A (p.Tyr209Ter) c.793C>A (p.Leu265Ile) c.624C>A (p.Tyr208Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.67490804C>T | CA475509423 | AIP | c.1111C>T c.615C>T (p.Tyr205=) n.1646C>T c.469-193C>T (n.469-193C>T) c.435C>T (p.Tyr145=) c.804C>T (p.Tyr268=) c.796C>T (p.Leu266Phe) c.627C>T (p.Tyr209=) c.793C>T (p.Leu265Phe) c.624C>T (p.Tyr208=) | ClinVar dbSNP |