| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.75483619G>A | CA11118650 | EVA1A | n.411-14249C>T n.521-14249C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.75483619G>T | CA1261907768 | EVA1A | n.411-14249C>A n.521-14249C>A | dbSNP |
| 2 | g.75483619G= | CA1261907767 | EVA1A | n.411-14249C= n.521-14249C= | dbSNP |