Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101786014T>C | CA6746858 | GNPTAB | c.569A>G (p.Asp190Gly) n.363A>G c.203A>G (p.Asp68Gly) c.488A>G (p.Asp163Gly) c.353A>G (p.Asp118Gly) c.-782A>G (n.-782A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101786014T>A | CA343083 | GNPTAB | c.569A>T (p.Asp190Val) n.363A>T c.203A>T (p.Asp68Val) c.488A>T (p.Asp163Val) c.353A>T (p.Asp118Val) c.-782A>T (n.-782A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |