| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128723233G>A | CA4472358 | GARIN1B | c.724G>A (p.Glu242Lys) c.292G>A (p.Glu98Lys) n.583G>A c.295G>A (p.Glu99Lys) c.427G>A (p.Glu143Lys) n.680G>A n.824G>A n.713G>A n.775G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128723233G>C | CA369196642 | GARIN1B | c.724G>C (p.Glu242Gln) c.292G>C (p.Glu98Gln) n.583G>C c.295G>C (p.Glu99Gln) c.427G>C (p.Glu143Gln) n.680G>C n.824G>C n.713G>C n.775G>C | dbSNP gnomAD v4 |
| 7 | g.128723233G= | CA1742494521 | GARIN1B | c.724G= (p.Glu242=) c.292G= (p.Glu98=) n.583G= c.295G= (p.Glu99=) c.427G= (p.Glu143=) n.680G= n.824G= n.713G= n.775G= | dbSNP |