| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426090T>C | CA348400954 | PROC | c.541T>C (p.Phe181Leu) c.121-2267T>C c.643T>C (p.Phe215Leu) c.484T>C (p.Phe162Leu) n.127T>C c.724T>C (p.Phe242Leu) c.706T>C (p.Phe236Leu) c.604T>C (p.Phe202Leu) c.784T>C (p.Phe262Leu) c.886T>C (p.Phe296Leu) c.826T>C (p.Phe276Leu) n.4495A>G c.709T>C (p.Phe237Leu) c.727T>C (p.Phe243Leu) c.517T>C (p.Phe173Leu) c.535T>C (p.Phe179Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127426090T>G | CA1859385 | PROC | c.541T>G (p.Phe181Val) c.121-2267T>G c.643T>G (p.Phe215Val) c.484T>G (p.Phe162Val) n.127T>G c.724T>G (p.Phe242Val) c.706T>G (p.Phe236Val) c.604T>G (p.Phe202Val) c.784T>G (p.Phe262Val) c.886T>G (p.Phe296Val) c.826T>G (p.Phe276Val) n.4495A>C c.709T>G (p.Phe237Val) c.727T>G (p.Phe243Val) c.517T>G (p.Phe173Val) c.535T>G (p.Phe179Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |