| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018399C>A | CA252249 | HJV | c.959G>T (p.Gly320Val) c.281G>T (p.Gly94Val) c.620G>T (p.Gly207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018399C>T | CA342135102 | HJV | c.959G>A (p.Gly320Glu) c.281G>A (p.Gly94Glu) c.620G>A (p.Gly207Glu) | dbSNP gnomAD v4 |
| 1 | g.146018399C>G | CA342135108 | HJV | c.959G>C (p.Gly320Ala) c.281G>C (p.Gly94Ala) c.620G>C (p.Gly207Ala) | dbSNP gnomAD v4 |
| 1 | g.146018399C= | CA1140886749 | HJV | c.959G= (p.Gly320=) c.281G= (p.Gly94=) c.620G= (p.Gly207=) | dbSNP |