| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32625774G>T | CA251669 | FGD4 | c.1756G>T (p.Gly586Ter) c.2011G>T (p.Gly671Ter) c.1477G>T (p.Gly493Ter) c.568G>T (p.Gly190Ter) n.1263G>T n.554G>T c.2167G>T (p.Gly723Ter) c.*1148G>T (n.*1148G>T) c.*1167G>T (n.*1167G>T) c.1438G>T c.2092G>T (p.Gly698Ter) c.*1125G>T (n.*1125G>T) c.1012G>T (p.Gly338Ter) c.724G>T (p.Gly242Ter) c.2248G>T (p.Gly750Ter) c.2050G>T (p.Gly684Ter) c.1204G>T (p.Gly402Ter) c.1159G>T (p.Gly387Ter) c.991G>T (p.Gly331Ter) c.865G>T (p.Gly289Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.32625774G= | CA2026244070 | FGD4 | c.1756G= (p.Gly586=) c.2011G= (p.Gly671=) c.1477G= (p.Gly493=) c.568G= (p.Gly190=) n.1263G= n.554G= c.2167G= (p.Gly723=) c.*1148G= (n.*1148G=) c.*1167G= (n.*1167G=) c.1438G= c.2092G= (p.Gly698=) c.*1125G= (n.*1125G=) c.1012G= (p.Gly338=) c.724G= (p.Gly242=) c.2248G= (p.Gly750=) c.2050G= (p.Gly684=) c.1204G= (p.Gly402=) c.1159G= (p.Gly387=) c.991G= (p.Gly331=) c.865G= (p.Gly289=) | dbSNP |