| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426181G>A | CA55348396 | PROC | c.632G>A (p.Arg211Gln) c.121-2176G>A c.734G>A (p.Arg245Gln) n.218G>A c.815G>A (p.Arg272Gln) c.797G>A (p.Arg266Gln) c.695G>A (p.Arg232Gln) c.875G>A (p.Arg292Gln) c.977G>A (p.Arg326Gln) c.917G>A (p.Arg306Gln) n.4404C>T c.800G>A (p.Arg267Gln) c.818G>A (p.Arg273Gln) c.575G>A (p.Arg192Gln) c.608G>A (p.Arg203Gln) c.626G>A (p.Arg209Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.127426181G>T | CA348401495 | PROC | c.632G>T (p.Arg211Leu) c.121-2176G>T c.734G>T (p.Arg245Leu) n.218G>T c.815G>T (p.Arg272Leu) c.797G>T (p.Arg266Leu) c.695G>T (p.Arg232Leu) c.875G>T (p.Arg292Leu) c.977G>T (p.Arg326Leu) c.917G>T (p.Arg306Leu) n.4404C>A c.800G>T (p.Arg267Leu) c.818G>T (p.Arg273Leu) c.575G>T (p.Arg192Leu) c.608G>T (p.Arg203Leu) c.626G>T (p.Arg209Leu) | ClinVar dbSNP |