| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534345C>A | CA120984 | G6PD | c.637G>T (p.Val213Leu) c.640G>T (p.Val214Leu) c.500G>T c.503G>T c.517G>T (p.Val173Leu) c.*479G>T (n.*479G>T) c.727G>T (p.Val243Leu) c.730G>T (p.Val244Leu) | ClinVar dbSNP |
| X | g.154534345C>G | CA10566205 | G6PD | c.637G>C (p.Val213Leu) c.640G>C (p.Val214Leu) c.500G>C c.503G>C c.517G>C (p.Val173Leu) c.*479G>C (n.*479G>C) c.727G>C (p.Val243Leu) c.730G>C (p.Val244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534345C= | CA2466724129 | G6PD | c.637G= (p.Val213=) c.640G= (p.Val214=) c.500G= c.503G= c.517G= (p.Val173=) c.*479G= (n.*479G=) c.727G= (p.Val243=) c.730G= (p.Val244=) | dbSNP |