| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.92486738A>T | CA163397 | SLC24A4 | c.1495A>T (p.Ser499Cys) c.1303A>T (p.Ser435Cys) c.1091A>T n.1749A>T c.1438A>T (p.Ser480Cys) n.948A>T c.1636A>T (p.Ser546Cys) c.1579A>T (p.Ser527Cys) c.745A>T (p.Ser249Cys) c.577A>T (p.Ser193Cys) | ClinVar dbSNP gnomAD v4 |
| 14 | g.92486738A= | CA3206786715 | SLC24A4 | c.1495A= (p.Ser499=) c.1303A= (p.Ser435=) c.1091A= n.1749A= c.1438A= (p.Ser480=) n.948A= c.1636A= (p.Ser546=) c.1579A= (p.Ser527=) c.745A= (p.Ser249=) c.577A= (p.Ser193=) | dbSNP |