| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.13014469A>G | CA144837 | ELAC2 | c.460T>C (p.Phe154Leu) c.403T>C (p.Phe135Leu) n.722T>C c.433-1194T>C (n.433-1194T>C) c.178T>C (p.Phe60Leu) n.257T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.13014469A= | CA2248403147 | ELAC2 | c.460T= (p.Phe154=) c.403T= (p.Phe135=) n.722T= c.433-1194T= (n.433-1194T=) c.178T= (p.Phe60=) n.257T= | dbSNP |