| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728081C>G | CA4917445 | FAM83H | c.1380G>C (p.Trp460Cys) c.1983G>C (p.Trp661Cys) c.560G>C c.1437G>C (p.Trp479Cys) c.1398G>C (p.Trp466Cys) c.1701G>C (p.Trp567Cys) c.1548G>C (p.Trp516Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728081C>T | CA114499 | FAM83H | c.1380G>A (p.Trp460Ter) c.1983G>A (p.Trp661Ter) c.560G>A c.1437G>A (p.Trp479Ter) c.1398G>A (p.Trp466Ter) c.1701G>A (p.Trp567Ter) c.1548G>A (p.Trp516Ter) | ClinVar dbSNP gnomAD v4 |