| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.23798160T>C | CA252856 | GALE | c.308A>G (p.Asp103Gly) c.116A>G (p.Asp39Gly) n.426A>G n.768A>G n.253A>G n.712A>G n.409A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.23798160T>A | CA339013651 | GALE | c.308A>T (p.Asp103Val) c.116A>T (p.Asp39Val) n.426A>T n.768A>T n.253A>T n.712A>T n.409A>T | dbSNP |
| 1 | g.23798160T= | CA1140495535 | GALE | c.308A= (p.Asp103=) c.116A= (p.Asp39=) n.426A= n.768A= n.253A= n.712A= n.409A= | dbSNP |