| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92499808G>T | CA4341073 | PEX1 | c.2614C>A (p.Arg872=) c.2443C>A (p.Arg815=) c.1648C>A (p.Arg550=) n.2653C>A n.2506C>A c.1990C>A (p.Arg664=) c.865C>A (p.Arg289=) n.2710C>A n.1641C>A n.2661C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.92499808G>A | CA4341072 | PEX1 | c.2614C>T (p.Arg872Ter) c.2443C>T (p.Arg815Ter) c.1648C>T (p.Arg550Ter) n.2653C>T n.2506C>T c.1990C>T (p.Arg664Ter) c.865C>T (p.Arg289Ter) n.2710C>T n.1641C>T n.2661C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92499808G>C | CA4341071 | PEX1 | c.2614C>G (p.Arg872Gly) c.2443C>G (p.Arg815Gly) c.1648C>G (p.Arg550Gly) n.2653C>G n.2506C>G c.1990C>G (p.Arg664Gly) c.865C>G (p.Arg289Gly) n.2710C>G n.1641C>G n.2661C>G | dbSNP ExAC |