| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426208G>A | CA114412 | PROC | c.659G>A (p.Arg220Gln) c.121-2149G>A c.761G>A (p.Arg254Gln) n.245G>A c.842G>A (p.Arg281Gln) c.824G>A (p.Arg275Gln) c.722G>A (p.Arg241Gln) c.902G>A (p.Arg301Gln) c.1004G>A (p.Arg335Gln) c.944G>A (p.Arg315Gln) n.4377C>T c.827G>A (p.Arg276Gln) c.845G>A (p.Arg282Gln) c.602G>A (p.Arg201Gln) c.635G>A (p.Arg212Gln) c.653G>A (p.Arg218Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426208G>T | CA1859404 | PROC | c.659G>T (p.Arg220Leu) c.121-2149G>T c.761G>T (p.Arg254Leu) n.245G>T c.842G>T (p.Arg281Leu) c.824G>T (p.Arg275Leu) c.722G>T (p.Arg241Leu) c.902G>T (p.Arg301Leu) c.1004G>T (p.Arg335Leu) c.944G>T (p.Arg315Leu) n.4377C>A c.827G>T (p.Arg276Leu) c.845G>T (p.Arg282Leu) c.602G>T (p.Arg201Leu) c.635G>T (p.Arg212Leu) c.653G>T (p.Arg218Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127426208G>C | CA348401661 | PROC | c.659G>C (p.Arg220Pro) c.121-2149G>C c.761G>C (p.Arg254Pro) n.245G>C c.842G>C (p.Arg281Pro) c.824G>C (p.Arg275Pro) c.722G>C (p.Arg241Pro) c.902G>C (p.Arg301Pro) c.1004G>C (p.Arg335Pro) c.944G>C (p.Arg315Pro) n.4377C>G c.827G>C (p.Arg276Pro) c.845G>C (p.Arg282Pro) c.602G>C (p.Arg201Pro) c.635G>C (p.Arg212Pro) c.653G>C (p.Arg218Pro) | ClinVar dbSNP |