| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150558996G>A | CA1078787 | ADAMTSL4 | c.2594G>A (p.Arg865His) c.2663G>A (p.Arg888His) c.2477G>A (p.Arg826His) n.431G>A c.1208G>A (p.Arg403His) c.2762G>A (p.Arg921His) c.2693G>A (p.Arg898His) c.1271G>A (p.Arg424His) n.3163G>A c.1007G>A (p.Arg336His) n.3136G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150558996G= | CA2479211603 | ADAMTSL4 | c.2594G= (p.Arg865=) c.2663G= (p.Arg888=) c.2477G= (p.Arg826=) n.431G= c.1208G= (p.Arg403=) c.2762G= (p.Arg921=) c.2693G= (p.Arg898=) c.1271G= (p.Arg424=) n.3163G= c.1007G= (p.Arg336=) n.3136G= | dbSNP |