| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6364517A>C | CA143976 | CLPP | c.433A>C (p.Thr145Pro) c.151-1741A>C c.244A>C n.334A>C n.948A>C c.172A>C (p.Thr58Pro) c.107-1741A>C (n.107-1741A>C) c.244A>C (p.Thr82Pro) | ClinVar dbSNP |
| 19 | g.6364517A>G | CA403589588 | CLPP | c.433A>G (p.Thr145Ala) c.151-1741A>G c.244A>G n.334A>G n.948A>G c.172A>G (p.Thr58Ala) c.107-1741A>G (n.107-1741A>G) c.244A>G (p.Thr82Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6364517A= | CA2320389826 | CLPP | c.433A= (p.Thr145=) c.151-1741A= c.244A= n.334A= n.948A= c.172A= (p.Thr58=) c.107-1741A= (n.107-1741A=) c.244A= (p.Thr82=) | dbSNP |