| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136845620T>G | CA119072 | PEX7 | c.345T>G (p.Tyr115Ter) c.214+19151T>G c.231T>G (p.Tyr77Ter) c.350T>G (n.350T>G) c.225T>G (p.Tyr75Ter) c.339+19151T>G (n.339+19151T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136845620T= | CA3134742737 | PEX7 | c.345T= (p.Tyr115=) c.214+19151T= c.231T= (p.Tyr77=) c.350T= (n.350T=) c.225T= (p.Tyr75=) c.339+19151T= (n.339+19151T=) | dbSNP |