| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186182258A>G | CA1295535 | HMCN1 | c.16385A>G (p.Gln5462Arg) c.410A>G (p.Gln137Arg) c.16100A>G (p.Gln5367Arg) c.16034A>G (p.Gln5345Arg) c.14408A>G (p.Gln4803Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186182258A= | CA1140594459 | HMCN1 | c.16385A= (p.Gln5462=) c.410A= (p.Gln137=) c.16100A= (p.Gln5367=) c.16034A= (p.Gln5345=) c.14408A= (p.Gln4803=) | dbSNP |