| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.149784224C>T | CA124369 | FCGR1A,H2BC18 | c.274C>T (p.Arg92Ter) n.76-964G>A c.31+1450C>T (n.31+1450C>T) c.378-964G>A (n.378-964G>A) c.277C>T (p.Arg93Ter) c.377+27723G>A (n.377+27723G>A) c.253C>T (p.Arg85Ter) c.205C>T (p.Arg69Ter) c.52+1034C>T (n.52+1034C>T) n.324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149784224C= | CA1140886768 | FCGR1A,H2BC18 | c.274C= (p.Arg92=) n.76-964G= c.31+1450C= (n.31+1450C=) c.378-964G= (n.378-964G=) c.277C= (p.Arg93=) c.377+27723G= (n.377+27723G=) c.253C= (p.Arg85=) c.205C= (p.Arg69=) c.52+1034C= (n.52+1034C=) n.324C= | dbSNP |