| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534348T>C | CA10566206 | G6PD | c.634A>G (p.Met212Val) c.637A>G (p.Met213Val) c.497A>G c.500A>G c.514A>G (p.Met172Val) c.*476A>G (n.*476A>G) c.724A>G (p.Met242Val) c.727A>G (p.Met243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534348T>G | CA415237066 | G6PD | c.634A>C (p.Met212Leu) c.637A>C (p.Met213Leu) c.497A>C c.500A>C c.514A>C (p.Met172Leu) c.*476A>C (n.*476A>C) c.724A>C (p.Met242Leu) c.727A>C (p.Met243Leu) | dbSNP gnomAD v4 |