Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37206423G>C | CA117082726 | CPLANE1 | c.2654-969C>G c.2923C>G (p.Gln975Glu) n.2993C>G n.2998C>G c.65-127C>G (n.65-127C>G) c.67C>G (p.Gln23Glu) c.2921-127C>G (n.2921-127C>G) c.2605C>G (p.Gln869Glu) c.2251C>G (p.Gln751Glu) c.148C>G (p.Gln50Glu) n.3098C>G c.2734C>G (p.Gln912Glu) c.1930C>G (p.Gln644Glu) c.1735C>G (p.Gln579Glu) c.-582C>G (n.-582C>G) n.3147C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.37206423G>A | CA279485 | CPLANE1 | c.2654-969C>T c.2923C>T (p.Gln975Ter) n.2993C>T n.2998C>T c.65-127C>T (n.65-127C>T) c.67C>T (p.Gln23Ter) c.2921-127C>T (n.2921-127C>T) c.2605C>T (p.Gln869Ter) c.2251C>T (p.Gln751Ter) c.148C>T (p.Gln50Ter) n.3098C>T c.2734C>T (p.Gln912Ter) c.1930C>T (p.Gln644Ter) c.1735C>T (p.Gln579Ter) c.-582C>T (n.-582C>T) n.3147C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |