| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184100628G>A | CA2725893 | EIF2B5-DT,HTR3E,HTR3E-AS1 | c.256G>A (p.Ala86Thr) c.211G>A (p.Ala71Thr) c.-3G>A (n.-3G>A) n.282+3532C>T n.671-26541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184100628G>C | CA2725894 | EIF2B5-DT,HTR3E,HTR3E-AS1 | c.256G>C (p.Ala86Pro) c.211G>C (p.Ala71Pro) c.-3G>C (n.-3G>C) n.282+3532C>G n.671-26541C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |