| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171588461A>G | CA1243927 | PRRC2C | c.8155A>G (p.Thr2719Ala) c.2325A>G c.2730A>G c.8149A>G (p.Thr2717Ala) n.173A>G c.3597A>G n.336A>G c.8170A>G (p.Thr2724Ala) c.8164A>G (p.Thr2722Ala) c.8068A>G (p.Thr2690Ala) c.8066A>G (p.His2689Arg) c.8051A>G (p.His2684Arg) c.8005A>G (p.Thr2669Ala) n.8363A>G n.8348A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171588461A= | CA1139934767 | PRRC2C | c.8155A= (p.Thr2719=) c.2325A= c.2730A= c.8149A= (p.Thr2717=) n.173A= c.3597A= n.336A= c.8170A= (p.Thr2724=) c.8164A= (p.Thr2722=) c.8068A= (p.Thr2690=) c.8066A= (p.His2689=) c.8051A= (p.His2684=) c.8005A= (p.Thr2669=) n.8363A= n.8348A= | dbSNP |