| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232791426A>C | CA351013627 | GIGYF2 | c.1262A>C (p.Lys421Thr) c.608A>C (p.Lys203Thr) c.743A>C (p.Lys248Thr) c.518A>C (p.Lys173Thr) c.755A>C (p.Lys252Thr) c.1244A>C (p.Lys415Thr) c.1325A>C (p.Lys442Thr) c.1328A>C (p.Lys443Thr) c.1091A>C (p.Lys364Thr) c.*255A>C (n.*255A>C) n.1375A>C | dbSNP gnomAD v4 |
| 2 | g.232791426A>G | CA251597 | GIGYF2 | c.1262A>G (p.Lys421Arg) c.608A>G (p.Lys203Arg) c.743A>G (p.Lys248Arg) c.518A>G (p.Lys173Arg) c.755A>G (p.Lys252Arg) c.1244A>G (p.Lys415Arg) c.1325A>G (p.Lys442Arg) c.1328A>G (p.Lys443Arg) c.1091A>G (p.Lys364Arg) c.*255A>G (n.*255A>G) n.1375A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |