| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.208909G>T | CA152235913 | FAM20C | c.796G>T (p.Gly266Trp) n.277G>T n.1010+13177G>T c.1057G>T (p.Gly353Trp) c.1054G>T (p.Gly352Trp) c.94G>T (p.Gly32Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.208909G>A | CA250059 | FAM20C | c.796G>A (p.Gly266Arg) n.277G>A n.1010+13177G>A c.1057G>A (p.Gly353Arg) c.1054G>A (p.Gly352Arg) c.94G>A (p.Gly32Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |